KCNK3 (potassium two pore domain channel subfamily K member 3) - Rat Genome Database

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Gene: KCNK3 (potassium two pore domain channel subfamily K member 3) Homo sapiens
Analyze
Symbol: KCNK3
Name: potassium two pore domain channel subfamily K member 3
RGD ID: 1345497
HGNC Page HGNC:6278
Description: Enables S100 protein binding activity and potassium ion leak channel activity. Involved in monoatomic ion transmembrane transport. Located in plasma membrane. Implicated in primary pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acid-sensitive potassium channel protein TASK; acid-sensitive potassium channel protein TASK-1; cardiac potassium channel; K2p3.1; OAT1; potassium channel subfamily K member 3; potassium channel, two pore domain subfamily K, member 3; potassium inwardly-rectifying channel, subfamily K, member 3; PPH4; TASK; TASK-1; TASK1; TBAK1; TWIK-related acid-sensitive K(+) channel 1; TWIK-related acid-sensitive K+ 1; TWIK-related acid-sensitive K+ channel; two P domain potassium channel; two pore K(+) channel KT3.1; two pore potassium channel KT3.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38226,692,722 - 26,733,420 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl226,692,722 - 26,733,420 (+)EnsemblGRCh38hg38GRCh38
GRCh37226,915,590 - 26,956,288 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36226,769,123 - 26,806,222 (+)NCBINCBI36Build 36hg18NCBI36
Build 34226,827,269 - 26,864,354NCBI
Celera226,759,188 - 26,800,097 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef226,654,995 - 26,695,894 (+)NCBIHuRef
CHM1_1226,845,436 - 26,883,789 (+)NCBICHM1_1
T2T-CHM13v2.0226,731,837 - 26,774,979 (+)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
References

References - curated
# Reference Title Reference Citation
1. Deafness associated changes in two-pore domain potassium channels in the rat inferior colliculus. Cui YL, etal., Neuroscience. 2007 Oct 26;149(2):421-33. Epub 2007 Jul 17.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Region-specific alterations in astroglial TWIK-related acid-sensitive K+-1 channel immunoreactivity in the rat hippocampal complex following pilocarpine-induced status epilepticus. Kim JE, etal., J Comp Neurol. 2008 Oct 10;510(5):463-74.
4. Characterization of Kcnk3-Mutated Rat, a Novel Model of Pulmonary Hypertension. Lambert M, etal., Circ Res. 2019 Sep 13;125(7):678-695. doi: 10.1161/CIRCRESAHA.119.314793. Epub 2019 Jul 26.
5. Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease. Manaud G, etal., Am J Respir Cell Mol Biol. 2020 Jul;63(1):118-131. doi: 10.1165/rcmb.2019-0015OC.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9312005   PMID:9721223   PMID:10321245   PMID:10575216   PMID:10748056   PMID:11256078   PMID:11680614   PMID:11803450   PMID:11886861   PMID:11907168   PMID:12003807   PMID:12198146  
PMID:12433946   PMID:12437930   PMID:12477932   PMID:12837685   PMID:15099514   PMID:15099524   PMID:15197476   PMID:15695101   PMID:16382106   PMID:16420525   PMID:16574908   PMID:17945357  
PMID:18375952   PMID:18678320   PMID:18824070   PMID:19188660   PMID:19657056   PMID:20012522   PMID:20049674   PMID:20301658   PMID:20931182   PMID:21357689   PMID:21362619   PMID:21540350  
PMID:21710317   PMID:21838752   PMID:21873635   PMID:22020285   PMID:22178873   PMID:22893713   PMID:23164059   PMID:23229553   PMID:23305490   PMID:23772394   PMID:23807092   PMID:23831603  
PMID:23883380   PMID:24015703   PMID:24035804   PMID:24374141   PMID:24743596   PMID:24932805   PMID:25420509   PMID:25655935   PMID:25951834   PMID:26743085   PMID:26794006   PMID:26912814  
PMID:27294516   PMID:27296998   PMID:27453251   PMID:27649371   PMID:27838333   PMID:28162765   PMID:28330616   PMID:28388887   PMID:28582316   PMID:28648645   PMID:28889099   PMID:29016681  
PMID:29122916   PMID:29257242   PMID:29360952   PMID:30021884   PMID:30365877   PMID:30623969   PMID:30803485   PMID:31001961   PMID:31423744   PMID:31436597   PMID:32131935   PMID:32499642  
PMID:32726132   PMID:34038243   PMID:34065088   PMID:34571371   PMID:35011589   PMID:35301863   PMID:36016502   PMID:36195757  


Genomics

Comparative Map Data
KCNK3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38226,692,722 - 26,733,420 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl226,692,722 - 26,733,420 (+)EnsemblGRCh38hg38GRCh38
GRCh37226,915,590 - 26,956,288 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36226,769,123 - 26,806,222 (+)NCBINCBI36Build 36hg18NCBI36
Build 34226,827,269 - 26,864,354NCBI
Celera226,759,188 - 26,800,097 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef226,654,995 - 26,695,894 (+)NCBIHuRef
CHM1_1226,845,436 - 26,883,789 (+)NCBICHM1_1
T2T-CHM13v2.0226,731,837 - 26,774,979 (+)NCBIT2T-CHM13v2.0
Kcnk3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39530,745,514 - 30,782,614 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl530,745,514 - 30,782,615 (+)EnsemblGRCm39 Ensembl
GRCm38530,588,170 - 30,625,270 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl530,588,170 - 30,625,271 (+)EnsemblGRCm38mm10GRCm38
MGSCv37530,890,543 - 30,927,643 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36530,864,751 - 30,901,851 (+)NCBIMGSCv36mm8
Celera528,066,527 - 28,103,716 (+)NCBICelera
Cytogenetic Map5B1NCBI
cM Map516.68NCBI
Kcnk3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2625,761,487 - 25,799,153 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl625,763,228 - 25,799,153 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx626,055,862 - 26,091,832 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0626,371,748 - 26,407,719 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0625,851,418 - 25,887,323 (-)NCBIRnor_WKY
Rnor_6.0627,154,274 - 27,190,209 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl627,151,612 - 27,190,132 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0636,969,843 - 37,005,778 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4625,745,923 - 25,782,144 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1625,748,881 - 25,785,097 (-)NCBI
Celera625,246,393 - 25,282,199 (-)NCBICelera
Cytogenetic Map6q14NCBI
Kcnk3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554698,709,999 - 8,747,467 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554698,710,749 - 8,744,423 (+)NCBIChiLan1.0ChiLan1.0
KCNK3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A26,780,475 - 26,819,123 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A26,780,475 - 26,819,123 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A26,688,938 - 26,729,860 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
KCNK3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11720,732,779 - 20,771,104 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1720,732,819 - 20,768,730 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1720,626,715 - 20,665,014 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01721,054,044 - 21,092,326 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1721,054,082 - 21,089,962 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11720,740,930 - 20,779,204 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01720,752,294 - 20,790,552 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01720,798,295 - 20,836,548 (+)NCBIUU_Cfam_GSD_1.0
Kcnk3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629265,067,699 - 65,071,786 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364935,770,103 - 5,772,326 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049364935,767,779 - 5,772,043 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNK3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3112,322,446 - 112,359,212 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13112,322,446 - 112,359,212 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23119,337,496 - 119,340,759 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNK3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11480,905,168 - 80,945,972 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1480,906,608 - 80,945,806 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604531,201,565 - 31,245,180 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnk3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247388,813,644 - 8,848,783 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247388,813,683 - 8,850,744 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNK3
140 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002246.3(KCNK3):c.423C>A (p.His141Gln) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000553101] Chr2:26727806 [GRCh38]
Chr2:26950674 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.654G>T (p.Pro218=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001000044]|not provided [RCV001706672] Chr2:26728037 [GRCh38]
Chr2:26950905 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_002246.3(KCNK3):c.172G>A (p.Gly58Ser) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000552033] Chr2:26693047 [GRCh38]
Chr2:26915915 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3 copy number gain See cases [RCV000052629] Chr2:25759602..27297636 [GRCh38]
Chr2:25982471..27520504 [GRCh37]
Chr2:25835975..27374008 [NCBI36]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000248489]|Pulmonary hypertension, primary, 4 [RCV000054385] Chr2:26727991 [GRCh38]
Chr2:26950859 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_002246.3(KCNK3):c.289G>A (p.Gly97Arg) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000054386] Chr2:26727672 [GRCh38]
Chr2:26950540 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_002246.3(KCNK3):c.661G>C (p.Val221Leu) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000054387] Chr2:26728044 [GRCh38]
Chr2:26950912 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000054388] Chr2:26727927 [GRCh38]
Chr2:26950795 [GRCh37]
Chr2:2p23.3		 pathogenic|uncertain significance
NM_002246.3(KCNK3):c.575A>G (p.Tyr192Cys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000054389] Chr2:26727958 [GRCh38]
Chr2:26950826 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_002246.2(KCNK3):c.561C>T (p.Phe187=) single nucleotide variant Malignant melanoma [RCV000065520] Chr2:26727944 [GRCh38]
Chr2:26950812 [GRCh37]
Chr2:26804316 [NCBI36]
Chr2:2p23.3		 not provided
NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000660625] Chr2:26727748 [GRCh38]
Chr2:26950616 [GRCh37]
Chr2:2p23.3		 likely pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1 copy number loss See cases [RCV000137065] Chr2:25064306..27154398 [GRCh38]
Chr2:25287175..27377266 [GRCh37]
Chr2:25140679..27230770 [NCBI36]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2		 pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
NM_002246.3(KCNK3):c.23C>A (p.Thr8Lys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000488684] Chr2:26692898 [GRCh38]
Chr2:26915766 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_002246.3(KCNK3):c.952C>T (p.Arg318Cys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001294647]|not provided [RCV000757420] Chr2:26728335 [GRCh38]
Chr2:26951203 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.366C>T (p.Leu122=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000545089] Chr2:26727749 [GRCh38]
Chr2:26950617 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.100G>A (p.Glu34Lys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000527110] Chr2:26692975 [GRCh38]
Chr2:26915843 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002246.3(KCNK3):c.17T>C (p.Val6Ala) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000532754] Chr2:26692892 [GRCh38]
Chr2:26915760 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1180G>A (p.Val394Met) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000539710] Chr2:26728563 [GRCh38]
Chr2:26951431 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.844A>G (p.Thr282Ala) single nucleotide variant Inborn genetic diseases [RCV002533507]|Pulmonary hypertension, primary, 4 [RCV000697978] Chr2:26728227 [GRCh38]
Chr2:26951095 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.250_267dup (p.Phe84_Thr89dup) duplication Pulmonary hypertension, primary, 4 [RCV000723305] Chr2:26693122..26693123 [GRCh38]
Chr2:26915990..26915991 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:26592685-27262646)x3 copy number gain See cases [RCV000448086] Chr2:26592685..27262646 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002246.3(KCNK3):c.*13G>A single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001730687]|not provided [RCV001537155]|not specified [RCV000456061] Chr2:26728581 [GRCh38]
Chr2:26951449 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002246.3(KCNK3):c.832A>T (p.Ser278Cys) single nucleotide variant Inborn genetic diseases [RCV002531980]|Pulmonary hypertension, primary, 4 [RCV000651584]|not provided [RCV000786148] Chr2:26728215 [GRCh38]
Chr2:26951083 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1014G>A (p.Thr338=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000651585] Chr2:26728397 [GRCh38]
Chr2:26951265 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.547C>T (p.His183Tyr) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000702082] Chr2:26727930 [GRCh38]
Chr2:26950798 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.953G>A (p.Arg318His) single nucleotide variant Inborn genetic diseases [RCV002544861]|Pulmonary hypertension, primary, 4 [RCV000690070] Chr2:26728336 [GRCh38]
Chr2:26951204 [GRCh37]
Chr2:2p23.3		 benign|likely benign|uncertain significance
NM_002246.3(KCNK3):c.834C>A (p.Ser278Arg) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000703912] Chr2:26728217 [GRCh38]
Chr2:26951085 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.646_651dup (p.Thr216_Gln217dup) duplication Pulmonary hypertension, primary, 4 [RCV000704568] Chr2:26728024..26728025 [GRCh38]
Chr2:26950892..26950893 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1169G>A (p.Arg390His) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000698618] Chr2:26728552 [GRCh38]
Chr2:26951420 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
NM_002246.3(KCNK3):c.456C>T (p.Ala152=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000874002] Chr2:26727839 [GRCh38]
Chr2:26950707 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.618G>A (p.Val206=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000802769] Chr2:26728001 [GRCh38]
Chr2:26950869 [GRCh37]
Chr2:2p23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002246.3(KCNK3):c.903G>A (p.Ala301=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000810606] Chr2:26728286 [GRCh38]
Chr2:26951154 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.283+6G>T single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000814751] Chr2:26693164 [GRCh38]
Chr2:26916032 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_002246.3(KCNK3):c.785C>T (p.Ala262Val) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000809035] Chr2:26728168 [GRCh38]
Chr2:26951036 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1128G>A (p.Thr376=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000799437] Chr2:26728511 [GRCh38]
Chr2:26951379 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.120G>A (p.Arg40=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000977966] Chr2:26692995 [GRCh38]
Chr2:26915863 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1140C>G (p.Ser380Arg) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV000874982] Chr2:26728523 [GRCh38]
Chr2:26951391 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1097C>T (p.Ala366Val) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001001929] Chr2:26728480 [GRCh38]
Chr2:26951348 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.827G>A (p.Gly276Asp) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001224170] Chr2:26728210 [GRCh38]
Chr2:26951078 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.872C>T (p.Ala291Val) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001219463] Chr2:26728255 [GRCh38]
Chr2:26951123 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.802G>T (p.Gly268Trp) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV003104777] Chr2:26728185 [GRCh38]
Chr2:26951053 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.460G>A (p.Val154Met) single nucleotide variant Autism spectrum disorder [RCV003127288] Chr2:26727843 [GRCh38]
Chr2:26950711 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.632A>G (p.Asp211Gly) single nucleotide variant Autism spectrum disorder [RCV003127289] Chr2:26728015 [GRCh38]
Chr2:26950883 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.398A>G (p.Asn133Ser) single nucleotide variant not provided [RCV001570699] Chr2:26727781 [GRCh38]
Chr2:26950649 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
NM_002246.3(KCNK3):c.147G>A (p.Arg49=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001455184]|not provided [RCV000928200] Chr2:26693022 [GRCh38]
Chr2:26915890 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.746T>C (p.Met249Thr) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001214400] Chr2:26728129 [GRCh38]
Chr2:26950997 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.501C>T (p.Cys167=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001396199]|not provided [RCV000891141] Chr2:26727884 [GRCh38]
Chr2:26950752 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.438G>T (p.Gly146=) single nucleotide variant not provided [RCV000933717] Chr2:26727821 [GRCh38]
Chr2:26950689 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.275C>T (p.Thr92Ile) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001002151] Chr2:26693150 [GRCh38]
Chr2:26916018 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_002246.3(KCNK3):c.544G>C (p.Glu182Gln) single nucleotide variant Pulmonary arterial hypertension [RCV001004022] Chr2:26727927 [GRCh38]
Chr2:26950795 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_002246.3(KCNK3):c.283+114C>G single nucleotide variant not provided [RCV001695493] Chr2:26693272 [GRCh38]
Chr2:26916140 [GRCh37]
Chr2:2p23.3		 benign
NM_002246.3(KCNK3):c.202C>T (p.Arg68Cys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001236674] Chr2:26693077 [GRCh38]
Chr2:26915945 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1067C>A (p.Thr356Lys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001071308] Chr2:26728450 [GRCh38]
Chr2:26951318 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.781C>A (p.Arg261Ser) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001215234] Chr2:26728164 [GRCh38]
Chr2:26951032 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.967T>A (p.Tyr323Asn) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001069691] Chr2:26728350 [GRCh38]
Chr2:26951218 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.853G>A (p.Ala285Thr) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001203872] Chr2:26728236 [GRCh38]
Chr2:26951104 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002246.3(KCNK3):c.991C>T (p.Arg331Trp) single nucleotide variant Inborn genetic diseases [RCV002543598]|Pulmonary hypertension, primary, 4 [RCV001312452] Chr2:26728374 [GRCh38]
Chr2:26951242 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.946A>G (p.Lys316Glu) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001299354] Chr2:26728329 [GRCh38]
Chr2:26951197 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1094G>A (p.Gly365Glu) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001303551] Chr2:26728477 [GRCh38]
Chr2:26951345 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.99C>G (p.Pro33=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001422985] Chr2:26692974 [GRCh38]
Chr2:26915842 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.579C>T (p.Cys193=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001433329] Chr2:26727962 [GRCh38]
Chr2:26950830 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.459C>T (p.Asp153=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001433785] Chr2:26727842 [GRCh38]
Chr2:26950710 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1162A>G (p.Met388Val) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001323580] Chr2:26728545 [GRCh38]
Chr2:26951413 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.28G>A (p.Ala10Thr) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001318185] Chr2:26692903 [GRCh38]
Chr2:26915771 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.279C>A (p.Thr93=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001465072] Chr2:26693154 [GRCh38]
Chr2:26916022 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1053C>T (p.Gly351=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001520895] Chr2:26728436 [GRCh38]
Chr2:26951304 [GRCh37]
Chr2:2p23.3		 benign
NM_002246.3(KCNK3):c.510G>A (p.Thr170=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001402904] Chr2:26727893 [GRCh38]
Chr2:26950761 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.636G>A (p.Gln212=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001459724] Chr2:26728019 [GRCh38]
Chr2:26950887 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.750C>T (p.Asn250=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001416148] Chr2:26728133 [GRCh38]
Chr2:26951001 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.864G>C (p.Thr288=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001505384] Chr2:26728247 [GRCh38]
Chr2:26951115 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1107C>T (p.Ser369=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001405975] Chr2:26728490 [GRCh38]
Chr2:26951358 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.621G>A (p.Ala207=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001444930] Chr2:26728004 [GRCh38]
Chr2:26950872 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.294C>T (p.His98=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001443094] Chr2:26727677 [GRCh38]
Chr2:26950545 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.714C>T (p.Phe238=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001457429] Chr2:26728097 [GRCh38]
Chr2:26950965 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.483C>G (p.Leu161=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001476422] Chr2:26727866 [GRCh38]
Chr2:26950734 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.284-9T>A single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001480572] Chr2:26727658 [GRCh38]
Chr2:26950526 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.774C>T (p.Ala258=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001463029] Chr2:26728157 [GRCh38]
Chr2:26951025 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.-120G>T single nucleotide variant not provided [RCV001617820] Chr2:26692756 [GRCh38]
Chr2:26915624 [GRCh37]
Chr2:2p23.3		 benign
NM_002246.3(KCNK3):c.1041G>A (p.Pro347=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001504718] Chr2:26728424 [GRCh38]
Chr2:26951292 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.531C>G (p.Ala177=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001484889] Chr2:26727914 [GRCh38]
Chr2:26950782 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.486C>T (p.Ile162=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001401878] Chr2:26727869 [GRCh38]
Chr2:26950737 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.822A>C (p.Gly274=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001483460] Chr2:26728205 [GRCh38]
Chr2:26951073 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1131T>C (p.Gly377=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001471988] Chr2:26728514 [GRCh38]
Chr2:26951382 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.414C>T (p.Tyr138=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001518224] Chr2:26727797 [GRCh38]
Chr2:26950665 [GRCh37]
Chr2:2p23.3		 benign
NM_002246.3(KCNK3):c.759C>T (p.Asp253=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001501329] Chr2:26728142 [GRCh38]
Chr2:26951010 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.706G>C (p.Gly236Arg) single nucleotide variant not provided [RCV001773246] Chr2:26728089 [GRCh38]
Chr2:26950957 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.716T>C (p.Leu239Pro) single nucleotide variant not provided [RCV001774358] Chr2:26728099 [GRCh38]
Chr2:26950967 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.386G>A (p.Gly129Asp) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001761641] Chr2:26727769 [GRCh38]
Chr2:26950637 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.721C>T (p.Leu241Phe) single nucleotide variant not provided [RCV001763310] Chr2:26728104 [GRCh38]
Chr2:26950972 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:26860458-27346266)x1 copy number loss Ritscher-Schinzel syndrome 4 [RCV001801216] Chr2:26860458..27346266 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.425G>A (p.Arg142His) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002007834] Chr2:26727808 [GRCh38]
Chr2:26950676 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.877G>A (p.Gly293Ser) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001969660] Chr2:26728260 [GRCh38]
Chr2:26951128 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1093G>A (p.Gly365Arg) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001927244] Chr2:26728476 [GRCh38]
Chr2:26951344 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.824G>A (p.Gly275Glu) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001969902] Chr2:26728207 [GRCh38]
Chr2:26951075 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.802G>C (p.Gly268Arg) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001928570] Chr2:26728185 [GRCh38]
Chr2:26951053 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.488G>A (p.Gly163Asp) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001945998] Chr2:26727871 [GRCh38]
Chr2:26950739 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:26592685-27262646) copy number gain not specified [RCV002053078] Chr2:26592685..27262646 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1147A>G (p.Thr383Ala) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001890784] Chr2:26728530 [GRCh38]
Chr2:26951398 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.254A>G (p.Tyr85Cys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002043823] Chr2:26693129 [GRCh38]
Chr2:26915997 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_26915734)_(26916036_?)dup duplication Pulmonary hypertension, primary, 4 [RCV002020615] Chr2:26915734..26916036 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(27746306_?)dup duplication Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911738] Chr2:24443763..27746306 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.973A>G (p.Ile325Val) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001885888] Chr2:26728356 [GRCh38]
Chr2:26951224 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.167A>T (p.Gln56Leu) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001906142] Chr2:26693042 [GRCh38]
Chr2:26915910 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.976C>T (p.Pro326Ser) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002001192] Chr2:26728359 [GRCh38]
Chr2:26951227 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.826G>A (p.Gly276Ser) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001866412] Chr2:26728209 [GRCh38]
Chr2:26951077 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.809C>G (p.Ala270Gly) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002033929] Chr2:26728192 [GRCh38]
Chr2:26951060 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.894C>A (p.Asn298Lys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV001901643] Chr2:26728277 [GRCh38]
Chr2:26951145 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.925A>G (p.Met309Val) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002046734] Chr2:26728308 [GRCh38]
Chr2:26951176 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.7del (p.Arg3fs) deletion Pulmonary hypertension, primary, 4 [RCV002049193] Chr2:26692882 [GRCh38]
Chr2:26915750 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1067C>G (p.Thr356Arg) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002035041] Chr2:26728450 [GRCh38]
Chr2:26951318 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1071C>T (p.Pro357=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002190957] Chr2:26728454 [GRCh38]
Chr2:26951322 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.309G>T (p.Thr103=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002192444] Chr2:26727692 [GRCh38]
Chr2:26950560 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.249C>T (p.Ser83=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002108468] Chr2:26693124 [GRCh38]
Chr2:26915992 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.885C>G (p.Gly295=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002205588] Chr2:26728268 [GRCh38]
Chr2:26951136 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1125C>T (p.Ser375=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002209900] Chr2:26728508 [GRCh38]
Chr2:26951376 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.480G>T (p.Val160=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002145425] Chr2:26727863 [GRCh38]
Chr2:26950731 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1032C>T (p.His344=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002213675] Chr2:26728415 [GRCh38]
Chr2:26951283 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.937C>T (p.Leu313=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002077442] Chr2:26728320 [GRCh38]
Chr2:26951188 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.795G>A (p.Thr265=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002212036] Chr2:26728178 [GRCh38]
Chr2:26951046 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.324G>T (p.Val108=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002212436] Chr2:26727707 [GRCh38]
Chr2:26950575 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.39G>A (p.Val13=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002221124] Chr2:26692914 [GRCh38]
Chr2:26915782 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.309G>A (p.Thr103=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002120307] Chr2:26727692 [GRCh38]
Chr2:26950560 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.363G>A (p.Thr121=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002220511] Chr2:26727746 [GRCh38]
Chr2:26950614 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.978C>G (p.Pro326=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002099139] Chr2:26728361 [GRCh38]
Chr2:26951229 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.439C>T (p.Leu147=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002124035] Chr2:26727822 [GRCh38]
Chr2:26950690 [GRCh37]
Chr2:2p23.3		 likely benign
NC_000002.11:g.(?_24443763)_(29022169_?)dup duplication Tall stature-intellectual disability-facial dysmorphism syndrome [RCV003113871]|not provided [RCV003113870] Chr2:24443763..29022169 [GRCh37]
Chr2:2p23.3-23.2		 uncertain significance
NC_000002.11:g.(?_24443763)_(30143525_?)dup duplication not provided [RCV003113441] Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1		 uncertain significance
NM_002246.3(KCNK3):c.244G>A (p.Gly82Ser) single nucleotide variant not provided [RCV002269739] Chr2:26693119 [GRCh38]
Chr2:26915987 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1021G>A (p.Glu341Lys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002290340] Chr2:26728404 [GRCh38]
Chr2:26951272 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
Single allele microsatellite not provided [RCV002293911] Chr2:26692489..26692490 [GRCh38]
Chr2:26915357..26915358 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.571_573delinsCAA (p.Tyr191Gln) indel Pulmonary arterial hypertension [RCV002285238] Chr2:26727954..26727956 [GRCh38]
Chr2:26950822..26950824 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_002246.3(KCNK3):c.102G>T (p.Glu34Asp) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002295711] Chr2:26692977 [GRCh38]
Chr2:26915845 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1113C>T (p.Ile371_Ser372=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV003074755] Chr2:26728496 [GRCh38]
Chr2:26951364 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.948G>C (p.Lys316Asn) single nucleotide variant Inborn genetic diseases [RCV002884063] Chr2:26728331 [GRCh38]
Chr2:26951199 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1068G>A (p.Thr356_Pro357=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002881217] Chr2:26728451 [GRCh38]
Chr2:26951319 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.955G>A (p.Glu319Lys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002882087] Chr2:26728338 [GRCh38]
Chr2:26951206 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.880G>A (p.Gly294Ser) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002996228] Chr2:26728263 [GRCh38]
Chr2:26951131 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.83C>T (p.Ala28Val) single nucleotide variant Inborn genetic diseases [RCV002840303] Chr2:26692958 [GRCh38]
Chr2:26915826 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.610G>A (p.Asp204Asn) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002994770] Chr2:26727993 [GRCh38]
Chr2:26950861 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1149C>T (p.Thr383_Phe384=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV003077438] Chr2:26728532 [GRCh38]
Chr2:26951400 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.997C>G (p.Leu333Val) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002949064] Chr2:26728380 [GRCh38]
Chr2:26951248 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.283+18G>C single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002912932] Chr2:26693176 [GRCh38]
Chr2:26916044 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1048G>A (p.Gly350Ser) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002795707] Chr2:26728431 [GRCh38]
Chr2:26951299 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1002C>A (p.Ser334_Thr335=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002636851] Chr2:26728385 [GRCh38]
Chr2:26951253 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.93G>C (p.Ser31_Glu32=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002639858] Chr2:26692968 [GRCh38]
Chr2:26915836 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.997C>T (p.Leu333Phe) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002885478] Chr2:26728380 [GRCh38]
Chr2:26951248 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1176C>T (p.Ser392_Ser393=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV003083436] Chr2:26728559 [GRCh38]
Chr2:26951427 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.283+20G>A single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002929059] Chr2:26693178 [GRCh38]
Chr2:26916046 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.640C>T (p.Leu214_Gln215=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002701031] Chr2:26728023 [GRCh38]
Chr2:26950891 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.809C>T (p.Ala270Val) single nucleotide variant Inborn genetic diseases [RCV002827084] Chr2:26728192 [GRCh38]
Chr2:26951060 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.826G>T (p.Gly276Cys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV003041577] Chr2:26728209 [GRCh38]
Chr2:26951077 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.448C>A (p.Arg150_Arg151=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV003090052] Chr2:26727831 [GRCh38]
Chr2:26950699 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.178G>C (p.Glu60Gln) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002966559] Chr2:26693053 [GRCh38]
Chr2:26915921 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1046G>A (p.Gly349Glu) single nucleotide variant Inborn genetic diseases [RCV002808364] Chr2:26728429 [GRCh38]
Chr2:26951297 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.1054C>T (p.Arg352Cys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002577252] Chr2:26728437 [GRCh38]
Chr2:26951305 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.824G>C (p.Gly275Ala) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002895231] Chr2:26728207 [GRCh38]
Chr2:26951075 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.323T>G (p.Val108Gly) single nucleotide variant Inborn genetic diseases [RCV002718993] Chr2:26727706 [GRCh38]
Chr2:26950574 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.284-8del deletion Pulmonary hypertension, primary, 4 [RCV002876920] Chr2:26727657 [GRCh38]
Chr2:26950525 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.972C>T (p.Ser324_Ile325=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002770379] Chr2:26728355 [GRCh38]
Chr2:26951223 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.744C>T (p.Thr248_Met249=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002671827] Chr2:26728127 [GRCh38]
Chr2:26950995 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.1159C>T (p.Leu387Phe) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002933997] Chr2:26728542 [GRCh38]
Chr2:26951410 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.220G>T (p.Ala74Ser) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002650247] Chr2:26693095 [GRCh38]
Chr2:26915963 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.567C>T (p.Ala189_Tyr190=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002725980] Chr2:26727950 [GRCh38]
Chr2:26950818 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.753C>T (p.Ala251_Glu252=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002604470] Chr2:26728136 [GRCh38]
Chr2:26951004 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.342G>A (p.Ala114_Leu115=) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002583214] Chr2:26727725 [GRCh38]
Chr2:26950593 [GRCh37]
Chr2:2p23.3		 likely benign
NM_002246.3(KCNK3):c.29C>A (p.Ala10Glu) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002658420] Chr2:26692904 [GRCh38]
Chr2:26915772 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_002246.3(KCNK3):c.877G>T (p.Gly293Cys) single nucleotide variant Pulmonary hypertension, primary, 4 [RCV002585821] Chr2:26728260 [GRCh38]
Chr2:26951128 [GRCh37]
Chr2:2p23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2538
Count of miRNA genes:1056
Interacting mature miRNAs:1311
Transcripts:ENST00000302909
Prediction methods:Miranda
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.

Markers in Region
DXS8011  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map2p23UniSTS
Marshfield Genetic MapX98.2UniSTS
Marshfield Genetic MapX98.2RGD
Genethon Genetic MapX190.4UniSTS
Whitehead-YAC Contig MapX UniSTS
RH102127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,953,706 - 26,953,888UniSTSGRCh37
Build 36226,807,210 - 26,807,392RGDNCBI36
Celera226,799,737 - 26,799,919RGD
Cytogenetic Map2p23UniSTS
HuRef226,695,534 - 26,695,716UniSTS
GeneMap99-GB4 RH Map292.02UniSTS
PMC16288P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,950,907 - 26,951,224UniSTSGRCh37
Build 36226,804,411 - 26,804,728RGDNCBI36
Celera226,796,937 - 26,797,254RGD
Cytogenetic Map2p23UniSTS
HuRef226,692,733 - 26,693,050UniSTS
KCNK3_888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,951,971 - 26,952,868UniSTSGRCh37
Build 36226,805,475 - 26,806,372RGDNCBI36
Celera226,798,001 - 26,798,899RGD
HuRef226,693,797 - 26,694,696UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 669 1011 551 1 26 549 330 843 108 233 764 1 150 470 1
Low 1593 1009 774 147 411 69 2573 1130 2632 242 1073 732 86 1 1032 1666 3
Below cutoff 149 841 355 429 894 351 1216 727 259 56 145 103 87 22 651 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000302909   ⟹   ENSP00000306275
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,692,722 - 26,733,420 (+)Ensembl
RefSeq Acc Id: ENST00000620977   ⟹   ENSP00000483136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl226,692,690 - 26,729,255 (+)Ensembl
RefSeq Acc Id: NM_002246   ⟹   NP_002237
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,692,722 - 26,733,420 (+)NCBI
GRCh37226,915,581 - 26,954,066 (+)ENTREZGENE
GRCh37226,915,581 - 26,954,066 (+)NCBI
Build 36226,769,123 - 26,806,222 (+)NCBI Archive
HuRef226,654,995 - 26,695,894 (+)ENTREZGENE
CHM1_1226,845,436 - 26,883,789 (+)NCBI
T2T-CHM13v2.0226,731,837 - 26,774,979 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264293   ⟹   XP_005264350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,721,109 - 26,733,420 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002237   ⟸   NM_002246
- UniProtKB: Q53SU2 (UniProtKB/Swiss-Prot),   O14649 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264350   ⟸   XM_005264293
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000483136   ⟸   ENST00000620977
RefSeq Acc Id: ENSP00000306275   ⟸   ENST00000302909
Protein Domains
Potassium channel

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14649-F1-model_v2 AlphaFold O14649 1-394 view protein structure

Promoters
RGD ID:6859848
Promoter ID:EPDNEW_H3089
Type:initiation region
Name:KCNK3_2
Description:potassium two pore domain channel subfamily K member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3090  EPDNEW_H3091  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,692,731 - 26,692,791EPDNEW
RGD ID:6859850
Promoter ID:EPDNEW_H3090
Type:initiation region
Name:KCNK3_1
Description:potassium two pore domain channel subfamily K member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3089  EPDNEW_H3091  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,692,833 - 26,692,893EPDNEW
RGD ID:6859888
Promoter ID:EPDNEW_H3091
Type:multiple initiation site
Name:KCNK3_3
Description:potassium two pore domain channel subfamily K member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3089  EPDNEW_H3090  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,707,331 - 26,707,391EPDNEW
RGD ID:6811897
Promoter ID:HG_ACW:43454
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:KCNK3.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36226,800,236 - 26,800,736 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6278 AgrOrtholog
COSMIC KCNK3 COSMIC
Ensembl Genes ENSG00000171303 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000306275 ENTREZGENE
  ENSP00000306275.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302909 ENTREZGENE
  ENST00000302909.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171303 GTEx
HGNC ID HGNC:6278 ENTREZGENE
Human Proteome Map KCNK3 Human Proteome Map
InterPro 2pore_dom_K_chnl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2pore_dom_K_chnl_TASK UniProtKB/Swiss-Prot
  K_chnl_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCNK3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3777 UniProtKB/Swiss-Prot
NCBI Gene 3777 ENTREZGENE
OMIM 603220 OMIM
PANTHER PTHR11003 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11003:SF138 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ion_trans_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNK3 RGD, PharmGKB
PIRSF K_channel_subfamily_K_type UniProtKB/Swiss-Prot
PRINTS 2POREKCHANEL UniProtKB/Swiss-Prot
  TASK1CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TASKCHANNEL UniProtKB/Swiss-Prot
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9EIJ4_HUMAN UniProtKB/TrEMBL
  KCNK3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53SU2 ENTREZGENE
UniProt Secondary Q53SU2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNK3  potassium two pore domain channel subfamily K member 3    potassium channel, two pore domain subfamily K, member 3  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNK3  potassium channel, two pore domain subfamily K, member 3    potassium channel, subfamily K, member 3  Symbol and/or name change 5135510 APPROVED
2011-08-16 KCNK3  potassium channel, subfamily K, member 3  KCNK3  potassium channel, subfamily K, member 3  Symbol and/or name change 5135510 APPROVED