KCNC2 (potassium voltage-gated channel subfamily C member 2) - Rat Genome Database

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Gene: KCNC2 (potassium voltage-gated channel subfamily C member 2) Homo sapiens
Analyze
Symbol: KCNC2
Name: potassium voltage-gated channel subfamily C member 2
RGD ID: 736950
HGNC Page HGNC:6234
Description: Enables voltage-gated potassium channel activity. Involved in potassium ion transport. Predicted to be located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and perikaryon. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in several cellular components, including dendrite membrane; neuronal cell body membrane; and synaptic membrane. Implicated in developmental and epileptic encephalopathy 103. Biomarker of glioblastoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE103; KV3.2; MGC138196; potassium channel, voltage gated Shaw related subfamily C, member 2; potassium voltage-gated channel, Shaw-related subfamily, member 2; shaw-like potassium channel; voltage-gated potassium channel KCNC2; voltage-gated potassium channel Kv3.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381275,040,078 - 75,209,839 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1275,040,077 - 75,209,839 (-)EnsemblGRCh38hg38GRCh38
GRCh371275,433,858 - 75,603,619 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361273,720,163 - 73,889,778 (-)NCBINCBI36Build 36hg18NCBI36
Build 341273,720,162 - 73,889,778NCBI
Celera1275,101,336 - 75,270,876 (-)NCBICelera
Cytogenetic Map12q21.1NCBI
HuRef1272,483,472 - 72,653,079 (-)NCBIHuRef
CHM1_11275,399,235 - 75,568,820 (-)NCBICHM1_1
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal involuntary eye movements  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of coordination  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Aphasia  (IAGP)
Arachnoid cyst  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brain atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Continuous spike and waves during slow sleep  (IAGP)
Decreased fetal movement  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Dyskinesia  (IAGP)
EEG with burst suppression  (IAGP)
EEG with multifocal slow activity  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Eyelid myoclonus  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Focal impaired awareness seizure  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hyperactivity  (IAGP)
Hypodontia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Involuntary movements  (IAGP)
Limb hypertonia  (IAGP)
Macrocephaly  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonus  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Opisthotonus  (IAGP)
Optic atrophy  (IAGP)
Poor head control  (IAGP)
Ptosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short stature  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Tonic seizure  (IAGP)
Tonic status epilepticus  (IAGP)
Tremor  (IAGP)
Trismus  (IAGP)
Unsteady gait  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays. Cheung HC, etal., BMC Genomics. 2008 May 12;9:216. doi: 10.1186/1471-2164-9-216.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Impaired fast-spiking, suppressed cortical inhibition, and increased susceptibility to seizures in mice lacking Kv3.2 K+ channel proteins. Lau D, etal., J Neurosci. 2000 Dec 15;20(24):9071-85.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8111118   PMID:12477932   PMID:12805291   PMID:14702039   PMID:15709110   PMID:16344560   PMID:16382104   PMID:19332619   PMID:21873635   PMID:21912965   PMID:23475819   PMID:23628987  
PMID:27623749   PMID:31732108   PMID:32392612   PMID:34448338   PMID:35314505   PMID:36087422   PMID:36090251  


Genomics

Comparative Map Data
KCNC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381275,040,078 - 75,209,839 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1275,040,077 - 75,209,839 (-)EnsemblGRCh38hg38GRCh38
GRCh371275,433,858 - 75,603,619 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361273,720,163 - 73,889,778 (-)NCBINCBI36Build 36hg18NCBI36
Build 341273,720,162 - 73,889,778NCBI
Celera1275,101,336 - 75,270,876 (-)NCBICelera
Cytogenetic Map12q21.1NCBI
HuRef1272,483,472 - 72,653,079 (-)NCBIHuRef
CHM1_11275,399,235 - 75,568,820 (-)NCBICHM1_1
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBIT2T-CHM13v2.0
Kcnc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910112,105,803 - 112,302,209 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10112,107,026 - 112,302,929 (+)EnsemblGRCm39 Ensembl
GRCm3810112,269,898 - 112,466,304 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10112,271,121 - 112,467,024 (+)EnsemblGRCm38mm10GRCm38
MGSCv3710111,708,179 - 111,903,360 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610111,675,233 - 111,870,414 (+)NCBIMGSCv36mm8
Celera10114,210,354 - 114,400,944 (+)NCBICelera
Cytogenetic Map10D2NCBI
cM Map1060.3NCBI
Kcnc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8749,586,274 - 49,770,212 (+)NCBIGRCr8
mRatBN7.2747,700,035 - 47,883,979 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl747,700,288 - 47,883,968 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx749,609,550 - 49,792,283 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0751,812,632 - 51,995,385 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0751,590,463 - 51,773,199 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0754,978,453 - 55,159,362 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl754,980,120 - 55,159,351 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0754,998,077 - 55,177,456 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4751,326,602 - 51,487,958 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1751,347,043 - 51,508,400 (+)NCBI
Celera744,495,328 - 44,675,986 (+)NCBICelera
Cytogenetic Map7q22NCBI
Kcnc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540514,422,396 - 14,600,341 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540514,420,447 - 14,599,780 (-)NCBIChiLan1.0ChiLan1.0
KCNC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21083,082,905 - 83,251,756 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11283,079,301 - 83,248,152 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01272,566,924 - 72,736,270 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11275,419,465 - 75,588,535 (-)NCBIpanpan1.1PanPan1.1panPan2
KCNC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11015,599,428 - 15,822,579 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1015,643,962 - 15,818,097 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1015,541,357 - 15,767,201 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01015,785,996 - 16,011,988 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1015,789,212 - 16,007,557 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11015,595,746 - 15,821,564 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01015,848,484 - 16,075,795 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01015,974,622 - 16,200,463 (-)NCBIUU_Cfam_GSD_1.0
Kcnc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494542,033,763 - 42,220,108 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365683,511,244 - 3,694,781 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365683,508,212 - 3,694,459 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl538,326,414 - 38,533,110 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1538,326,408 - 38,535,826 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2541,759,389 - 41,781,754 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11170,603,034 - 70,770,625 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1170,603,003 - 70,768,859 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037174,772,549 - 174,940,514 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475022,807,370 - 22,996,753 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475022,807,234 - 22,996,614 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNC2
83 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_139137.4(KCNC2):c.439G>A (p.Asp147Asn) single nucleotide variant not provided [RCV003321331] Chr12:75207545 [GRCh38]
Chr12:75601325 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1405G>T (p.Val469Leu) single nucleotide variant KCNC2-related disorder [RCV001526457] Chr12:75050600 [GRCh38]
Chr12:75444380 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 copy number loss See cases [RCV000051313] Chr12:70337484..81761145 [GRCh38]
Chr12:70731264..82154924 [GRCh37]
Chr12:69017531..80679055 [NCBI36]
Chr12:12q15-21.31		 pathogenic
GRCh38/hg38 12q15-21.2(chr12:70390897-79214318)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|See cases [RCV000051314] Chr12:70390897..79214318 [GRCh38]
Chr12:70784677..79608098 [GRCh37]
Chr12:69070944..78132229 [NCBI36]
Chr12:12q15-21.2		 pathogenic
NM_139136.3(KCNC2):c.1676C>T (p.Pro559Leu) single nucleotide variant Malignant melanoma [RCV000070201] Chr12:75048257 [GRCh38]
Chr12:75442037 [GRCh37]
Chr12:73728304 [NCBI36]
Chr12:12q21.1		 not provided
NM_139136.3(KCNC2):c.893T>C (p.Leu298Ser) single nucleotide variant Malignant melanoma [RCV000070202] Chr12:75051112 [GRCh38]
Chr12:75444892 [GRCh37]
Chr12:73731159 [NCBI36]
Chr12:12q21.1		 not provided
NM_001260497.1(KCNC2):c.688-19743C>A single nucleotide variant Lung cancer [RCV000111291] Chr12:75071060 [GRCh38]
Chr12:75464840 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_001260497.1(KCNC2):c.687+31570C>A single nucleotide variant Lung cancer [RCV000111292] Chr12:75175727 [GRCh38]
Chr12:75569507 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.239G>T (p.Gly80Val) single nucleotide variant not provided [RCV003159309] Chr12:75207745 [GRCh38]
Chr12:75601525 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh38/hg38 12q21.1-21.2(chr12:75021678-75683757)x3 copy number gain See cases [RCV000134001] Chr12:75021678..75683757 [GRCh38]
Chr12:75415458..76077537 [GRCh37]
Chr12:73701725..74363804 [NCBI36]
Chr12:12q21.1-21.2		 uncertain significance
GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1 copy number loss See cases [RCV000135587] Chr12:68011417..75383054 [GRCh38]
Chr12:68405197..75776834 [GRCh37]
Chr12:66691464..74063101 [NCBI36]
Chr12:12q15-21.2		 likely pathogenic|uncertain significance
GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1 copy number loss See cases [RCV000136267] Chr12:69769737..76964217 [GRCh38]
Chr12:70163517..77357997 [GRCh37]
Chr12:68449784..75882128 [NCBI36]
Chr12:12q15-21.2		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.1-21.2(chr12:75019031-75720674)x3 copy number gain See cases [RCV000141889] Chr12:75019031..75720674 [GRCh38]
Chr12:75412811..76114454 [GRCh37]
Chr12:73699078..74400721 [NCBI36]
Chr12:12q21.1-21.2		 uncertain significance
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_139137.4(KCNC2):c.*764C>T single nucleotide variant Inborn genetic diseases [RCV003240781] Chr12:75042341 [GRCh38]
Chr12:75436121 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh37/hg19 12q21.1-21.2(chr12:75417919-76110508)x3 copy number gain not provided [RCV000683446] Chr12:75417919..76110508 [GRCh37]
Chr12:12q21.1-21.2		 uncertain significance
GRCh37/hg19 12q21.1(chr12:75593940-75654740)x1 copy number loss not provided [RCV000683381] Chr12:75593940..75654740 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33		 pathogenic
GRCh37/hg19 12q21.1-21.2(chr12:75421038-76110751)x3 copy number gain not provided [RCV000737952] Chr12:75421038..76110751 [GRCh37]
Chr12:12q21.1-21.2		 uncertain significance
GRCh37/hg19 12q21.1(chr12:75458483-75468250)x0 copy number loss not provided [RCV000737953] Chr12:75458483..75468250 [GRCh37]
Chr12:12q21.1		 benign
NM_139137.4(KCNC2):c.1146T>C (p.Phe382=) single nucleotide variant not provided [RCV000954966] Chr12:75050859 [GRCh38]
Chr12:75444639 [GRCh37]
Chr12:12q21.1		 benign|likely benign
NM_139137.4(KCNC2):c.1598T>A (p.Leu533Gln) single nucleotide variant Inborn genetic diseases [RCV003267721] Chr12:75050407 [GRCh38]
Chr12:75444187 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.265G>A (p.Gly89Ser) single nucleotide variant Inborn genetic diseases [RCV003248492] Chr12:75207719 [GRCh38]
Chr12:75601499 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1675C>T (p.Pro559Ser) single nucleotide variant not provided [RCV004812622] Chr12:75048258 [GRCh38]
Chr12:75442038 [GRCh37]		 uncertain significance
NM_139137.4(KCNC2):c.572G>A (p.Gly191Asp) single nucleotide variant Inborn genetic diseases [RCV003290705] Chr12:75207412 [GRCh38]
Chr12:75601192 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1408C>T (p.Pro470Ser) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV002464384]|not provided [RCV001093321] Chr12:75050597 [GRCh38]
Chr12:75444377 [GRCh37]
Chr12:12q21.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_139137.4(KCNC2):c.1145T>G (p.Phe382Cys) single nucleotide variant not provided [RCV001171891] Chr12:75050860 [GRCh38]
Chr12:75444640 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh37/hg19 12q21.1(chr12:75068633-75504887) copy number gain not specified [RCV002052998] Chr12:75068633..75504887 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508) copy number gain not specified [RCV002052999] Chr12:75412811..76110508 [GRCh37]
Chr12:12q21.1-21.2		 uncertain significance
GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1 copy number loss not provided [RCV001834178] Chr12:70084476..77065764 [GRCh37]
Chr12:12q15-21.2		 pathogenic
GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508)x3 copy number gain not provided [RCV001834517] Chr12:75412811..76110508 [GRCh37]
Chr12:12q21.1-21.2		 uncertain significance
NM_139137.4(KCNC2):c.1052G>A (p.Arg351Lys) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV002269377]|not provided [RCV001923015] Chr12:75050953 [GRCh38]
Chr12:75444733 [GRCh37]
Chr12:12q21.1		 pathogenic|uncertain significance
NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV003110132] Chr12:75050842 [GRCh38]
Chr12:75444622 [GRCh37]
Chr12:12q21.1		 pathogenic|likely pathogenic
NM_139137.4(KCNC2):c.914C>A (p.Pro305His) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV004789830] Chr12:75051091 [GRCh38]
Chr12:75444871 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.637C>T (p.Pro213Ser) single nucleotide variant not provided [RCV003149371] Chr12:75207347 [GRCh38]
Chr12:75601127 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.361G>T (p.Gly121Cys) single nucleotide variant not provided [RCV003156429] Chr12:75207623 [GRCh38]
Chr12:75601403 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.322C>T (p.Pro108Ser) single nucleotide variant not provided [RCV003233155] Chr12:75207662 [GRCh38]
Chr12:75601442 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1213A>G (p.Arg405Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002266114] Chr12:75050792 [GRCh38]
Chr12:75444572 [GRCh37]
Chr12:12q21.1		 likely pathogenic
NM_139137.4(KCNC2):c.499G>T (p.Asp167Tyr) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV002260880] Chr12:75207485 [GRCh38]
Chr12:75601265 [GRCh37]
Chr12:12q21.1		 pathogenic
NM_139137.4(KCNC2):c.1418T>A (p.Val473Asp) single nucleotide variant Neurodevelopmental delay [RCV002274413] Chr12:75050587 [GRCh38]
Chr12:75444367 [GRCh37]
Chr12:12q21.1		 likely pathogenic
NM_139137.4(KCNC2):c.1403C>T (p.Pro468Leu) single nucleotide variant not specified [RCV002287872] Chr12:75050602 [GRCh38]
Chr12:75444382 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.375C>G (p.Cys125Trp) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV002260881] Chr12:75207609 [GRCh38]
Chr12:75601389 [GRCh37]
Chr12:12q21.1		 pathogenic
NM_139137.4(KCNC2):c.404A>G (p.Glu135Gly) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV002260882] Chr12:75207580 [GRCh38]
Chr12:75601360 [GRCh37]
Chr12:12q21.1		 pathogenic
NM_139137.4(KCNC2):c.1309A>G (p.Thr437Ala) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV002260884] Chr12:75050696 [GRCh38]
Chr12:75444476 [GRCh37]
Chr12:12q21.1		 pathogenic
NM_139137.4(KCNC2):c.1411G>C (p.Val471Leu) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV002260879] Chr12:75050594 [GRCh38]
Chr12:75444374 [GRCh37]
Chr12:12q21.1		 pathogenic
NM_139137.4(KCNC2):c.299G>T (p.Arg100Leu) single nucleotide variant not provided [RCV003231821] Chr12:75207685 [GRCh38]
Chr12:75601465 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1001G>A (p.Gly334Glu) single nucleotide variant not provided [RCV002281509] Chr12:75051004 [GRCh38]
Chr12:75444784 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.439G>C (p.Asp147His) single nucleotide variant not provided [RCV003236091] Chr12:75207545 [GRCh38]
Chr12:75601325 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh37/hg19 12q21.1-21.2(chr12:75417920-76110508)x3 copy number gain not provided [RCV002474598] Chr12:75417920..76110508 [GRCh37]
Chr12:12q21.1-21.2		 uncertain significance
NM_139137.4(KCNC2):c.1904del (p.Pro635fs) deletion not provided [RCV002511740] Chr12:75043118 [GRCh38]
Chr12:75436898 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.283C>A (p.His95Asn) single nucleotide variant Inborn genetic diseases [RCV002946055] Chr12:75207701 [GRCh38]
Chr12:75601481 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.722T>C (p.Val241Ala) single nucleotide variant Inborn genetic diseases [RCV002793910] Chr12:75051283 [GRCh38]
Chr12:75445063 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1567G>C (p.Asp523His) single nucleotide variant Inborn genetic diseases [RCV002687190] Chr12:75050438 [GRCh38]
Chr12:75444218 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1635T>G (p.Ser545Arg) single nucleotide variant Inborn genetic diseases [RCV002845327] Chr12:75048298 [GRCh38]
Chr12:75442078 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1635T>A (p.Ser545Arg) single nucleotide variant Inborn genetic diseases [RCV002804374] Chr12:75048298 [GRCh38]
Chr12:75442078 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1592G>A (p.Arg531Gln) single nucleotide variant Inborn genetic diseases [RCV002854052] Chr12:75050413 [GRCh38]
Chr12:75444193 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.586G>A (p.Ala196Thr) single nucleotide variant Inborn genetic diseases [RCV002674914] Chr12:75207398 [GRCh38]
Chr12:75601178 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.247G>A (p.Gly83Ser) single nucleotide variant Inborn genetic diseases [RCV002854756] Chr12:75207737 [GRCh38]
Chr12:75601517 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.779A>G (p.Lys260Arg) single nucleotide variant Inborn genetic diseases [RCV002673392] Chr12:75051226 [GRCh38]
Chr12:75445006 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.*731A>T single nucleotide variant Inborn genetic diseases [RCV002809754] Chr12:75042374 [GRCh38]
Chr12:75436154 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.347A>G (p.Asn116Ser) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV004788462] Chr12:75207637 [GRCh38]
Chr12:75601417 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1241C>T (p.Ser414Leu) single nucleotide variant not provided [RCV004778310] Chr12:75050764 [GRCh38]
Chr12:75444544 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1685G>T (p.Arg562Leu) single nucleotide variant Inborn genetic diseases [RCV003214526] Chr12:75048248 [GRCh38]
Chr12:75442028 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971) copy number gain Anomalous pulmonary venous return [RCV003223575] Chr12:75027258..75716971 [GRCh38]
Chr12:12q21.1-21.2		 uncertain significance
NM_139137.4(KCNC2):c.1408C>A (p.Pro470Thr) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV003142495] Chr12:75050597 [GRCh38]
Chr12:75444377 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.170C>T (p.Ser57Leu) single nucleotide variant Inborn genetic diseases [RCV003265996] Chr12:75207814 [GRCh38]
Chr12:75601594 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.24G>C (p.Glu8Asp) single nucleotide variant Inborn genetic diseases [RCV003369357] Chr12:75207960 [GRCh38]
Chr12:75601740 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1526G>T (p.Cys509Phe) single nucleotide variant Inborn genetic diseases [RCV003362580]|KCNC2-related disorder [RCV004529630] Chr12:75050479 [GRCh38]
Chr12:75444259 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1769G>C (p.Gly590Ala) single nucleotide variant Inborn genetic diseases [RCV003354130] Chr12:75048164 [GRCh38]
Chr12:75441944 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.524T>C (p.Ile175Thr) single nucleotide variant Inborn genetic diseases [RCV003364146] Chr12:75207460 [GRCh38]
Chr12:75601240 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1424A>C (p.Asn475Thr) single nucleotide variant not provided [RCV003443794] Chr12:75050581 [GRCh38]
Chr12:75444361 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.262C>A (p.Arg88Ser) single nucleotide variant not provided [RCV004776848] Chr12:75207722 [GRCh38]
Chr12:75601502 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh37/hg19 12q21.1(chr12:74931615-75445097)x1 copy number loss not provided [RCV003398323] Chr12:74931615..75445097 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1292C>T (p.Ala431Val) single nucleotide variant KCNC2-related disorder [RCV004528668] Chr12:75050713 [GRCh38]
Chr12:75444493 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.709T>C (p.Phe237Leu) single nucleotide variant not provided [RCV003398192] Chr12:75051296 [GRCh38]
Chr12:75445076 [GRCh37]
Chr12:12q21.1		 likely benign
NM_139137.4(KCNC2):c.1418T>C (p.Val473Ala) single nucleotide variant not provided [RCV003443989] Chr12:75050587 [GRCh38]
Chr12:75444367 [GRCh37]
Chr12:12q21.1		 likely pathogenic
NM_139137.4(KCNC2):c.99C>T (p.Arg33=) single nucleotide variant not provided [RCV003410931] Chr12:75207885 [GRCh38]
Chr12:75601665 [GRCh37]
Chr12:12q21.1		 benign
GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1 copy number loss not specified [RCV003986972] Chr12:74887087..90469800 [GRCh37]
Chr12:12q21.1-21.33		 pathogenic
GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1 copy number loss not specified [RCV003986983] Chr12:73466055..82398026 [GRCh37]
Chr12:12q21.1-21.31		 uncertain significance
NM_139137.4(KCNC2):c.516C>G (p.Pro172=) single nucleotide variant not provided [RCV003885202] Chr12:75207468 [GRCh38]
Chr12:75601248 [GRCh37]
Chr12:12q21.1		 likely benign
NM_139137.4(KCNC2):c.487G>A (p.Glu163Lys) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV003983783] Chr12:75207497 [GRCh38]
Chr12:75601277 [GRCh37]
Chr12:12q21.1		 likely pathogenic
NM_139137.4(KCNC2):c.1210G>A (p.Glu404Lys) single nucleotide variant Developmental and epileptic encephalopathy 103 [RCV004545913] Chr12:75050795 [GRCh38]
Chr12:75444575 [GRCh37]
Chr12:12q21.1		 likely pathogenic
NM_139137.4(KCNC2):c.224G>T (p.Gly75Val) single nucleotide variant not provided [RCV003886013] Chr12:75207760 [GRCh38]
Chr12:75601540 [GRCh37]
Chr12:12q21.1		 benign
NM_139137.4(KCNC2):c.430G>A (p.Asp144Asn) single nucleotide variant Inborn genetic diseases [RCV004405999] Chr12:75207554 [GRCh38]
Chr12:75601334 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1580G>T (p.Gly527Val) single nucleotide variant Inborn genetic diseases [RCV004405996] Chr12:75050425 [GRCh38]
Chr12:75444205 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1117C>G (p.His373Asp) single nucleotide variant not provided [RCV004593475] Chr12:75050888 [GRCh38]
Chr12:75444668 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1546G>T (p.Ala516Ser) single nucleotide variant Inborn genetic diseases [RCV004636051] Chr12:75050459 [GRCh38]
Chr12:75444239 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.596G>C (p.Gly199Ala) single nucleotide variant Inborn genetic diseases [RCV004636047] Chr12:75207388 [GRCh38]
Chr12:75601168 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.635A>G (p.Gln212Arg) single nucleotide variant Inborn genetic diseases [RCV004636049] Chr12:75207349 [GRCh38]
Chr12:75601129 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1747T>G (p.Tyr583Asp) single nucleotide variant Inborn genetic diseases [RCV004636052] Chr12:75048186 [GRCh38]
Chr12:75441966 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.833C>T (p.Thr278Met) single nucleotide variant Inborn genetic diseases [RCV004636048] Chr12:75051172 [GRCh38]
Chr12:75444952 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.299G>A (p.Arg100His) single nucleotide variant Inborn genetic diseases [RCV004636050] Chr12:75207685 [GRCh38]
Chr12:75601465 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1130C>G (p.Ala377Gly) single nucleotide variant not specified [RCV004702833] Chr12:75050875 [GRCh38]
Chr12:75444655 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.557C>T (p.Ala186Val) single nucleotide variant KCNC2-related disorder [RCV004728131] Chr12:75207427 [GRCh38]
Chr12:75601207 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.375C>T (p.Cys125=) single nucleotide variant KCNC2-related disorder [RCV004736795] Chr12:75207609 [GRCh38]
Chr12:75601389 [GRCh37]
Chr12:12q21.1		 benign
NM_139137.4(KCNC2):c.*6A>G single nucleotide variant KCNC2-related disorder [RCV004737773] Chr12:75043099 [GRCh38]
Chr12:75436879 [GRCh37]
Chr12:12q21.1		 likely benign
NM_139137.4(KCNC2):c.132C>G (p.Gly44=) single nucleotide variant KCNC2-related disorder [RCV004736948] Chr12:75207852 [GRCh38]
Chr12:75601632 [GRCh37]
Chr12:12q21.1		 benign
NM_139137.4(KCNC2):c.1067T>C (p.Leu356Pro) single nucleotide variant not provided [RCV004761571]   uncertain significance
NM_139137.4(KCNC2):c.1046T>C (p.Val349Ala) single nucleotide variant not provided [RCV004769573] Chr12:75050959 [GRCh38]
Chr12:75444739 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1167G>A (p.Leu389=) single nucleotide variant KCNC2-related disorder [RCV004736936] Chr12:75050838 [GRCh38]
Chr12:75444618 [GRCh37]
Chr12:12q21.1		 likely benign
NM_139137.4(KCNC2):c.343C>A (p.Leu115Ile) single nucleotide variant not provided [RCV004774015] Chr12:75207641 [GRCh38]
Chr12:75601421 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1310C>A (p.Thr437Asn) single nucleotide variant not provided [RCV004729613] Chr12:75050695 [GRCh38]
Chr12:75444475 [GRCh37]
Chr12:12q21.1		 pathogenic
NM_139137.4(KCNC2):c.1254C>A (p.His418Gln) single nucleotide variant not provided [RCV004775939] Chr12:75050751 [GRCh38]
Chr12:75444531 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.1573T>G (p.Cys525Gly) single nucleotide variant not provided [RCV004771180] Chr12:75050432 [GRCh38]
Chr12:75444212 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_139137.4(KCNC2):c.317G>A (p.Arg106Gln) single nucleotide variant not provided [RCV004773860] Chr12:75207667 [GRCh38]
Chr12:75601447 [GRCh37]
Chr12:12q21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3721
Count of miRNA genes:919
Interacting mature miRNAs:1102
Transcripts:ENST00000298972, ENST00000341669, ENST00000350228, ENST00000393288, ENST00000540018, ENST00000546456, ENST00000548243, ENST00000548513, ENST00000549446, ENST00000550433
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407162773GWAS811749_HFEV/FVC ratio, response to bronchodilator QTL GWAS811749 (human)0.000001FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)127518054375180544Human
406950610GWAS599586_Hneuroticism measurement QTL GWAS599586 (human)0.000002neuroticism measurement127510268375102684Human
407003054GWAS652030_Hintelligence QTL GWAS652030 (human)0.0000006intelligence127511999275119993Human
407306153GWAS955129_Hadolescent idiopathic scoliosis QTL GWAS955129 (human)4e-08adolescent idiopathic scoliosis127504198975041990Human

Markers in Region
A004A47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371275,582,031 - 75,582,157UniSTSGRCh37
Build 361273,868,298 - 73,868,424RGDNCBI36
Celera1275,249,415 - 75,249,541RGD
Cytogenetic Map12q14.1UniSTS
HuRef1272,631,583 - 72,631,709UniSTS
GeneMap99-GB4 RH Map12311.2UniSTS
SHGC-82234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371275,555,238 - 75,555,526UniSTSGRCh37
Build 361273,841,505 - 73,841,793RGDNCBI36
Celera1275,222,624 - 75,222,912RGD
Cytogenetic Map12q14.1UniSTS
HuRef1272,604,793 - 72,605,081UniSTS
D12S1231E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371275,581,935 - 75,582,035UniSTSGRCh37
Build 361273,868,202 - 73,868,302RGDNCBI36
Celera1275,249,319 - 75,249,419RGD
Cytogenetic Map12q14.1UniSTS
HuRef1272,631,487 - 72,631,587UniSTS
KCNC2_2525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371275,433,911 - 75,434,550UniSTSGRCh37
Build 361273,720,178 - 73,720,817RGDNCBI36
Celera1275,101,351 - 75,101,990RGD
HuRef1272,483,525 - 72,484,164UniSTS
SGC30445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371275,580,548 - 75,580,673UniSTSGRCh37
Build 361273,866,815 - 73,866,940RGDNCBI36
Celera1275,247,932 - 75,248,057RGD
Cytogenetic Map12q14.1UniSTS
HuRef1272,630,100 - 72,630,225UniSTS
GeneMap99-GB4 RH Map12310.58UniSTS
Whitehead-RH Map12412.0UniSTS
HSC2JH102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371275,433,876 - 75,434,050UniSTSGRCh37
Build 361273,720,143 - 73,720,317RGDNCBI36
Celera1275,101,316 - 75,101,490RGD
Cytogenetic Map12q14.1UniSTS
HuRef1272,483,490 - 72,483,664UniSTS
GeneMap99-GB4 RH Map12311.88UniSTS
Whitehead-RH Map12413.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
361 1574 1799 674 4172 886 1115 2 349 553 273 1243 3089 2197 27 3623 387 1164 587 82 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001260497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001260498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001260499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF268896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF268897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY118169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA218546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC323864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000298972   ⟹   ENSP00000298972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,040,080 - 75,209,748 (-)Ensembl
Ensembl Acc Id: ENST00000350228   ⟹   ENSP00000319877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,040,117 - 75,209,731 (-)Ensembl
Ensembl Acc Id: ENST00000393288   ⟹   ENSP00000376966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,043,357 - 75,209,435 (-)Ensembl
Ensembl Acc Id: ENST00000540018   ⟹   ENSP00000438423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,042,961 - 75,209,459 (-)Ensembl
Ensembl Acc Id: ENST00000546456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,051,067 - 75,140,196 (-)Ensembl
Ensembl Acc Id: ENST00000548243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,048,229 - 75,050,927 (-)Ensembl
Ensembl Acc Id: ENST00000548513   ⟹   ENSP00000449941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,040,077 - 75,208,004 (-)Ensembl
Ensembl Acc Id: ENST00000549446   ⟹   ENSP00000449253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,040,078 - 75,209,839 (-)Ensembl
Ensembl Acc Id: ENST00000550433   ⟹   ENSP00000448301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,040,077 - 75,208,004 (-)Ensembl
Ensembl Acc Id: ENST00000647764   ⟹   ENSP00000497415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1275,040,109 - 75,209,824 (-)Ensembl
RefSeq Acc Id: NM_001260497   ⟹   NP_001247426
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
GRCh371275,433,858 - 75,603,584 (-)NCBI
HuRef1272,483,472 - 72,653,079 (-)NCBI
CHM1_11275,399,235 - 75,568,820 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001260498   ⟹   NP_001247427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
HuRef1272,483,472 - 72,653,079 (-)NCBI
CHM1_11275,399,235 - 75,568,820 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001260499   ⟹   NP_001247428
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
HuRef1272,483,472 - 72,653,079 (-)NCBI
CHM1_11275,399,235 - 75,568,820 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001414192   ⟹   NP_001401121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,182,645 (-)NCBI
RefSeq Acc Id: NM_001414193   ⟹   NP_001401122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
RefSeq Acc Id: NM_001414194   ⟹   NP_001401123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
RefSeq Acc Id: NM_001414195   ⟹   NP_001401124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,182,645 (-)NCBI
RefSeq Acc Id: NM_001414196   ⟹   NP_001401125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,182,645 (-)NCBI
RefSeq Acc Id: NM_001414197   ⟹   NP_001401126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
RefSeq Acc Id: NM_001414198   ⟹   NP_001401127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
RefSeq Acc Id: NM_001414199   ⟹   NP_001401128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
RefSeq Acc Id: NM_001414202   ⟹   NP_001401131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
RefSeq Acc Id: NM_001414206   ⟹   NP_001401135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
RefSeq Acc Id: NM_001414213   ⟹   NP_001401142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,182,645 (-)NCBI
RefSeq Acc Id: NM_139136   ⟹   NP_631874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
GRCh371275,433,858 - 75,603,584 (-)NCBI
Build 361273,720,163 - 73,889,778 (-)NCBI Archive
Celera1275,101,336 - 75,270,876 (-)RGD
HuRef1272,483,472 - 72,653,079 (-)NCBI
CHM1_11275,399,235 - 75,568,820 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
Sequence:
RefSeq Acc Id: NM_139137   ⟹   NP_631875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
GRCh371275,433,858 - 75,603,584 (-)NCBI
Build 361273,723,145 - 73,889,778 (-)NCBI Archive
Celera1275,101,336 - 75,270,876 (-)RGD
HuRef1272,483,472 - 72,653,079 (-)NCBI
CHM1_11275,399,235 - 75,568,820 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153748   ⟹   NP_715624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
GRCh371275,433,858 - 75,603,584 (-)NCBI
Build 361273,720,163 - 73,889,778 (-)NCBI Archive
Celera1275,101,336 - 75,270,876 (-)RGD
HuRef1272,483,472 - 72,653,079 (-)NCBI
CHM1_11275,399,235 - 75,568,820 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
Sequence:
RefSeq Acc Id: NR_182257
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
RefSeq Acc Id: NR_182259
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,209,839 (-)NCBI
T2T-CHM13v2.01275,014,738 - 75,184,480 (-)NCBI
RefSeq Acc Id: XM_006719383   ⟹   XP_006719446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006719390   ⟹   XP_006719453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,191,882 - 75,208,004 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428810   ⟹   XP_047284766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
RefSeq Acc Id: XM_047428811   ⟹   XP_047284767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
RefSeq Acc Id: XM_047428812   ⟹   XP_047284768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
RefSeq Acc Id: XM_047428813   ⟹   XP_047284769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
RefSeq Acc Id: XM_047428816   ⟹   XP_047284772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
RefSeq Acc Id: XM_047428817   ⟹   XP_047284773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
RefSeq Acc Id: XM_047428818   ⟹   XP_047284774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,040,078 - 75,208,004 (-)NCBI
RefSeq Acc Id: XM_054372001   ⟹   XP_054227976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01275,014,738 - 75,182,643 (-)NCBI
RefSeq Acc Id: XM_054372002   ⟹   XP_054227977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01275,014,738 - 75,182,643 (-)NCBI
RefSeq Acc Id: XM_054372003   ⟹   XP_054227978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01275,014,738 - 75,182,643 (-)NCBI
RefSeq Acc Id: XM_054372004   ⟹   XP_054227979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01275,014,738 - 75,182,643 (-)NCBI
RefSeq Acc Id: XM_054372005   ⟹   XP_054227980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01275,166,522 - 75,182,643 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001247426 (Get FASTA)   NCBI Sequence Viewer  
  NP_001247427 (Get FASTA)   NCBI Sequence Viewer  
  NP_001247428 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401121 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401122 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401123 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401124 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401125 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401126 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401127 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401128 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401131 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401135 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401142 (Get FASTA)   NCBI Sequence Viewer  
  NP_631874 (Get FASTA)   NCBI Sequence Viewer  
  NP_631875 (Get FASTA)   NCBI Sequence Viewer  
  NP_715624 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719446 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719453 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284766 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284767 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284768 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284769 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284772 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284773 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284774 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227976 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227977 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227978 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227979 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227980 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH93635 (Get FASTA)   NCBI Sequence Viewer  
  AAI11992 (Get FASTA)   NCBI Sequence Viewer  
  AAL27272 (Get FASTA)   NCBI Sequence Viewer  
  AAL27273 (Get FASTA)   NCBI Sequence Viewer  
  AAM81577 (Get FASTA)   NCBI Sequence Viewer  
  AAO89503 (Get FASTA)   NCBI Sequence Viewer  
  BAC04407 (Get FASTA)   NCBI Sequence Viewer  
  BAE06076 (Get FASTA)   NCBI Sequence Viewer  
  BAH11717 (Get FASTA)   NCBI Sequence Viewer  
  EAW97287 (Get FASTA)   NCBI Sequence Viewer  
  EAW97288 (Get FASTA)   NCBI Sequence Viewer  
  EAW97289 (Get FASTA)   NCBI Sequence Viewer  
  EAW97290 (Get FASTA)   NCBI Sequence Viewer  
  EAW97291 (Get FASTA)   NCBI Sequence Viewer  
  EAW97292 (Get FASTA)   NCBI Sequence Viewer  
  EAW97293 (Get FASTA)   NCBI Sequence Viewer  
  EAW97294 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000298972
  ENSP00000298972.1
  ENSP00000319877
  ENSP00000319877.2
  ENSP00000376966
  ENSP00000376966.2
  ENSP00000438423
  ENSP00000438423.1
  ENSP00000448301
  ENSP00000448301.1
  ENSP00000449253
  ENSP00000449253.2
  ENSP00000449941
  ENSP00000449941.1
  ENSP00000497415
  ENSP00000497415.1
GenBank Protein Q96PR1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_631874   ⟸   NM_139136
- Peptide Label: isoform KV3.2a
- Sequence:
RefSeq Acc Id: NP_715624   ⟸   NM_153748
- Peptide Label: isoform KV3.2c
- UniProtKB: Q96PR1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_631875   ⟸   NM_139137
- Peptide Label: isoform KV3.2b
- UniProtKB: Q8N1V9 (UniProtKB/Swiss-Prot),   Q86W09 (UniProtKB/Swiss-Prot),   Q4LE77 (UniProtKB/Swiss-Prot),   J3KPP5 (UniProtKB/Swiss-Prot),   F5H030 (UniProtKB/Swiss-Prot),   B7Z231 (UniProtKB/Swiss-Prot),   Q96PR0 (UniProtKB/Swiss-Prot),   Q96PR1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001247428   ⟸   NM_001260499
- Peptide Label: isoform 6
- UniProtKB: Q96PR1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001247427   ⟸   NM_001260498
- Peptide Label: isoform KV3.2d
- Sequence:
RefSeq Acc Id: NP_001247426   ⟸   NM_001260497
- Peptide Label: isoform 4
- UniProtKB: Q96PR1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719446   ⟸   XM_006719383
- Peptide Label: isoform X4
- UniProtKB: A0A3B3ISR9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006719453   ⟸   XM_006719390
- Peptide Label: isoform X7
- Sequence:
Ensembl Acc Id: ENSP00000449941   ⟸   ENST00000548513
Ensembl Acc Id: ENSP00000298972   ⟸   ENST00000298972
Ensembl Acc Id: ENSP00000449253   ⟸   ENST00000549446
Ensembl Acc Id: ENSP00000319877   ⟸   ENST00000350228
Ensembl Acc Id: ENSP00000376966   ⟸   ENST00000393288
Ensembl Acc Id: ENSP00000448301   ⟸   ENST00000550433
Ensembl Acc Id: ENSP00000438423   ⟸   ENST00000540018
Ensembl Acc Id: ENSP00000497415   ⟸   ENST00000647764
RefSeq Acc Id: XP_047284774   ⟸   XM_047428818
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047284773   ⟸   XM_047428817
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047284766   ⟸   XM_047428810
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284768   ⟸   XM_047428812
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284767   ⟸   XM_047428811
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047284772   ⟸   XM_047428816
- Peptide Label: isoform X4
- UniProtKB: A0A3B3ISR9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284769   ⟸   XM_047428813
- Peptide Label: isoform X4
- UniProtKB: A0A3B3ISR9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001401128   ⟸   NM_001414199
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001401123   ⟸   NM_001414194
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001401127   ⟸   NM_001414198
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001401122   ⟸   NM_001414193
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001401131   ⟸   NM_001414202
- Peptide Label: isoform 9
- UniProtKB: A0A3B3ISR9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001401135   ⟸   NM_001414206
- Peptide Label: isoform 9
- UniProtKB: A0A3B3ISR9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001401126   ⟸   NM_001414197
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001401125   ⟸   NM_001414196
- Peptide Label: isoform KV3.2a
RefSeq Acc Id: NP_001401124   ⟸   NM_001414195
- Peptide Label: isoform KV3.2a
RefSeq Acc Id: NP_001401121   ⟸   NM_001414192
- Peptide Label: isoform KV3.2b
- UniProtKB: Q96PR1 (UniProtKB/Swiss-Prot),   Q8N1V9 (UniProtKB/Swiss-Prot),   Q86W09 (UniProtKB/Swiss-Prot),   Q4LE77 (UniProtKB/Swiss-Prot),   J3KPP5 (UniProtKB/Swiss-Prot),   F5H030 (UniProtKB/Swiss-Prot),   B7Z231 (UniProtKB/Swiss-Prot),   Q96PR0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001401142   ⟸   NM_001414213
- Peptide Label: isoform 9
- UniProtKB: A0A3B3ISR9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227979   ⟸   XM_054372004
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054227976   ⟸   XM_054372001
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054227978   ⟸   XM_054372003
- Peptide Label: isoform X4
- UniProtKB: A0A3B3ISR9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227977   ⟸   XM_054372002
- Peptide Label: isoform X4
- UniProtKB: A0A3B3ISR9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227980   ⟸   XM_054372005
- Peptide Label: isoform X7
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96PR1-F1-model_v2 AlphaFold Q96PR1 1-638 view protein structure

Promoters
RGD ID:7224849
Promoter ID:EPDNEW_H18170
Type:initiation region
Name:KCNC2_2
Description:potassium voltage-gated channel subfamily C member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18171  EPDNEW_H18172  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,208,004 - 75,208,064EPDNEW
RGD ID:7224851
Promoter ID:EPDNEW_H18171
Type:initiation region
Name:KCNC2_1
Description:potassium voltage-gated channel subfamily C member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18170  EPDNEW_H18172  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,209,437 - 75,209,497EPDNEW
RGD ID:7224855
Promoter ID:EPDNEW_H18172
Type:initiation region
Name:KCNC2_3
Description:potassium voltage-gated channel subfamily C member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18170  EPDNEW_H18171  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381275,209,748 - 75,209,808EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6234 AgrOrtholog
COSMIC KCNC2 COSMIC
Ensembl Genes ENSG00000166006 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000298972 ENTREZGENE
  ENST00000298972.5 UniProtKB/Swiss-Prot
  ENST00000350228 ENTREZGENE
  ENST00000350228.6 UniProtKB/Swiss-Prot
  ENST00000393288 ENTREZGENE
  ENST00000393288.2 UniProtKB/Swiss-Prot
  ENST00000540018 ENTREZGENE
  ENST00000540018.5 UniProtKB/Swiss-Prot
  ENST00000548513 ENTREZGENE
  ENST00000548513.5 UniProtKB/Swiss-Prot
  ENST00000549446 ENTREZGENE
  ENST00000549446.6 UniProtKB/Swiss-Prot
  ENST00000550433 ENTREZGENE
  ENST00000550433.5 UniProtKB/Swiss-Prot
  ENST00000647764 ENTREZGENE
  ENST00000647764.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166006 GTEx
HGNC ID HGNC:6234 ENTREZGENE
Human Proteome Map KCNC2 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T1-type_BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VG_K_chnl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3747 UniProtKB/Swiss-Prot
NCBI Gene 3747 ENTREZGENE
OMIM 176256 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY C MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35490 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHAWCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ISR9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z231 ENTREZGENE
  F5H030 ENTREZGENE
  J3KPP5 ENTREZGENE
  KCNC2_HUMAN UniProtKB/Swiss-Prot
  Q4LE77 ENTREZGENE
  Q86W09 ENTREZGENE
  Q8N1V9 ENTREZGENE
  Q96PR0 ENTREZGENE
  Q96PR1 ENTREZGENE
UniProt Secondary B7Z231 UniProtKB/Swiss-Prot
  F5H030 UniProtKB/Swiss-Prot
  J3KPP5 UniProtKB/Swiss-Prot
  Q4LE77 UniProtKB/Swiss-Prot
  Q86W09 UniProtKB/Swiss-Prot
  Q8N1V9 UniProtKB/Swiss-Prot
  Q96PR0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNC2  potassium voltage-gated channel subfamily C member 2    potassium channel, voltage gated Shaw related subfamily C, member 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNC2  potassium channel, voltage gated Shaw related subfamily C, member 2    potassium voltage-gated channel, Shaw-related subfamily, member 2  Symbol and/or name change 5135510 APPROVED