TPCN2 (two pore segment channel 2) - Rat Genome Database

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Gene: TPCN2 (two pore segment channel 2) Homo sapiens
Analyze
Symbol: TPCN2
Name: two pore segment channel 2
RGD ID: 1323411
HGNC Page HGNC:20820
Description: Enables several functions, including identical protein binding activity; ligand-gated monoatomic cation channel activity; and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including endocytosis involved in viral entry into host cell; intracellular monoatomic cation homeostasis; and sodium ion transmembrane transport. Located in endolysosome membrane and melanosome membrane. Implicated in pigmentation disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ41094; SHEP10; TPC2; two pore calcium channel protein 2; two pore channel protein 2; two-pore calcium channel protein 2; voltage-dependent calcium channel protein TPC2
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
GRCh381169,048,932 - 69,090,597 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1169,048,932 - 69,136,316 (+)EnsemblGRCh38hg38GRCh38
GRCh371168,816,400 - 68,858,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361168,572,926 - 68,614,648 (+)NCBINCBI36Build 36hg18NCBI36
Build 341168,572,940 - 68,612,568NCBI
Celera1166,156,085 - 66,198,158 (+)NCBICelera
Cytogenetic Map11q13.3NCBI
HuRef1165,155,518 - 65,197,367 (+)NCBIHuRef
CHM1_11168,700,007 - 68,741,850 (+)NCBICHM1_1
T2T-CHM13v2.01169,059,173 - 69,101,661 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Identification of new therapeutic targets by genome-wide analysis of gene expression in the ipsilateral cortex of aged rats after stroke. Buga AM, etal., PLoS One. 2012;7(12):e50985. doi: 10.1371/journal.pone.0050985. Epub 2012 Dec 12.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Calcium signaling via two-pore channels: local or global, that is the question. Zhu MX, etal., Am J Physiol Cell Physiol. 2010 Mar;298(3):C430-41. doi: 10.1152/ajpcell.00475.2009. Epub 2009 Dec 16.
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15203218   PMID:15342556   PMID:15489334   PMID:16382101   PMID:16554811   PMID:18488028   PMID:19387438   PMID:19620632   PMID:20495006   PMID:20585627  
PMID:20720007   PMID:20880839   PMID:21873635   PMID:21903581   PMID:22012985   PMID:23063126   PMID:23077736   PMID:23394946   PMID:24188827   PMID:24378760   PMID:24502975   PMID:24776928  
PMID:25157141   PMID:25236446   PMID:25331892   PMID:25416817   PMID:25451935   PMID:25722412   PMID:26152696   PMID:26202466   PMID:26468524   PMID:26838264   PMID:26918892   PMID:27140606  
PMID:27353380   PMID:27941820   PMID:28096396   PMID:28298427   PMID:28514442   PMID:28611215   PMID:28923947   PMID:28986522   PMID:29117863   PMID:29563152   PMID:29705952   PMID:29990474  
PMID:30860481   PMID:32167471   PMID:32221306   PMID:33144569   PMID:33465068   PMID:33875769   PMID:33961781  


Genomics

Comparative Map Data
TPCN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381169,048,932 - 69,090,597 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1169,048,932 - 69,136,316 (+)EnsemblGRCh38hg38GRCh38
GRCh371168,816,400 - 68,858,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361168,572,926 - 68,614,648 (+)NCBINCBI36Build 36hg18NCBI36
Build 341168,572,940 - 68,612,568NCBI
Celera1166,156,085 - 66,198,158 (+)NCBICelera
Cytogenetic Map11q13.3NCBI
HuRef1165,155,518 - 65,197,367 (+)NCBIHuRef
CHM1_11168,700,007 - 68,741,850 (+)NCBICHM1_1
T2T-CHM13v2.01169,059,173 - 69,101,661 (+)NCBIT2T-CHM13v2.0
Tpcn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397144,735,370 - 144,837,743 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7144,740,261 - 144,837,748 (-)EnsemblGRCm39 Ensembl
GRCm387145,181,633 - 145,284,011 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7145,186,524 - 145,284,011 (-)EnsemblGRCm38mm10GRCm38
MGSCv377152,439,828 - 152,469,832 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367145,063,313 - 145,093,317 (-)NCBIMGSCv36mm8
Celera7145,021,844 - 145,051,957 (-)NCBICelera
Cytogenetic Map7F5NCBI
Tpcn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81209,845,827 - 209,875,561 (-)NCBIGRCr8
mRatBN7.21200,416,538 - 200,446,252 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1200,416,540 - 200,446,236 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1208,792,040 - 208,821,577 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01215,878,483 - 215,908,119 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01208,552,709 - 208,582,341 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01218,419,182 - 218,448,902 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1218,419,184 - 218,448,877 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01225,286,480 - 225,316,685 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41205,702,971 - 205,732,664 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11205,857,086 - 205,886,037 (-)NCBI
Celera1197,971,266 - 198,000,753 (-)NCBICelera
Cytogenetic Map1q42NCBI
Tpcn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542216,900,239 - 16,923,978 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542216,899,730 - 16,923,962 (-)NCBIChiLan1.0ChiLan1.0
TPCN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2970,008,866 - 70,097,396 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11171,051,894 - 71,140,237 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01164,139,512 - 64,227,913 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11167,438,635 - 67,478,106 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1167,438,635 - 67,478,106 (+)Ensemblpanpan1.1panPan2
TPCN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11848,956,833 - 48,984,499 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1848,957,249 - 48,984,564 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1847,525,455 - 47,591,712 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01849,592,807 - 49,659,116 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1849,627,141 - 49,659,100 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11849,039,802 - 49,105,897 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01848,625,233 - 48,691,444 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01849,371,799 - 49,438,088 (-)NCBIUU_Cfam_GSD_1.0
Tpcn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049474,875,313 - 4,900,723 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365991,318,169 - 1,343,106 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365991,301,937 - 1,343,046 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TPCN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl24,069,280 - 4,105,042 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.124,069,267 - 4,105,065 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.222,709,001 - 2,726,449 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TPCN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.115,491,476 - 5,529,015 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl15,490,910 - 5,528,718 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038102,770,203 - 102,810,947 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tpcn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476717,918,080 - 17,944,653 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476717,877,791 - 17,944,190 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TPCN2
63 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_139075.4(TPCN2):c.1450A>T (p.Met484Leu) single nucleotide variant Skin/hair/eye pigmentation, variation in, 10 [RCV000000763] Chr11:69078931 [GRCh38]
Chr11:69078931..69078932 [GRCh38]
Chr11:68846399 [GRCh37]
Chr11:68846399..68846400 [GRCh37]
Chr11:11q13.3		 pathogenic|association
NM_139075.4(TPCN2):c.2201G>A (p.Gly734Glu) single nucleotide variant Skin/hair/eye pigmentation, variation in, 10 [RCV000000764] Chr11:69087895 [GRCh38]
Chr11:69087895..69087896 [GRCh38]
Chr11:68855363 [GRCh37]
Chr11:68855363..68855364 [GRCh37]
Chr11:11q13.3		 pathogenic|association
NM_139075.3(TPCN2):c.2126C>T (p.Pro709Leu) single nucleotide variant Malignant melanoma [RCV000069649] Chr11:69087152 [GRCh38]
Chr11:68854620 [GRCh37]
Chr11:68611196 [NCBI36]
Chr11:11q13.3		 not provided
NM_139075.3(TPCN2):c.2127C>T (p.Pro709=) single nucleotide variant Malignant melanoma [RCV000069650] Chr11:69087153 [GRCh38]
Chr11:68854621 [GRCh37]
Chr11:68611197 [NCBI36]
Chr11:11q13.3		 not provided
GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 copy number loss See cases [RCV000135609] Chr11:67217264..69448598 [GRCh38]
Chr11:66984735..69263366 [GRCh37]
Chr11:66741311..68972547 [NCBI36]
Chr11:11q13.2-13.3		 likely pathogenic
GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3 copy number gain See cases [RCV000137992] Chr11:68205963..69580475 [GRCh38]
Chr11:67973430..69395243 [GRCh37]
Chr11:67730006..69104424 [NCBI36]
Chr11:11q13.2-13.3		 likely benign
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 copy number loss See cases [RCV000142138] Chr11:68031693..71593495 [GRCh38]
Chr11:67799160..71304541 [GRCh37]
Chr11:67555736..70982189 [NCBI36]
Chr11:11q13.2-13.4		 likely pathogenic
GRCh37/hg19 11q13.3(chr11:68686958-69803426)x3 copy number gain See cases [RCV000448627] Chr11:68686958..69803426 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1 copy number loss See cases [RCV000510219] Chr11:67799160..70701268 [GRCh37]
Chr11:11q13.2-13.4		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_139075.4(TPCN2):c.1669C>T (p.Arg557Cys) single nucleotide variant not specified [RCV004293001] Chr11:69081479 [GRCh38]
Chr11:68848947 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1305C>G (p.Asp435Glu) single nucleotide variant not specified [RCV004314381] Chr11:69078556 [GRCh38]
Chr11:68846024 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1172T>C (p.Leu391Pro) single nucleotide variant not specified [RCV004302917] Chr11:69072943 [GRCh38]
Chr11:68840411 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.635C>T (p.Ser212Leu) single nucleotide variant not specified [RCV004292860] Chr11:69062972 [GRCh38]
Chr11:68830440 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1742C>T (p.Ala581Val) single nucleotide variant not specified [RCV004307380] Chr11:69083997 [GRCh38]
Chr11:68851465 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q13.3(chr11:68815523-68846399)x1 copy number loss not provided [RCV000737575] Chr11:68815523..68846399 [GRCh37]
Chr11:11q13.3		 benign
GRCh37/hg19 11q13.3(chr11:68818936-68846399)x1 copy number loss not provided [RCV000737576] Chr11:68818936..68846399 [GRCh37]
Chr11:11q13.3		 benign
GRCh37/hg19 11q13.3(chr11:68819011-68844747)x1 copy number loss not provided [RCV000737577] Chr11:68819011..68844747 [GRCh37]
Chr11:11q13.3		 benign
GRCh37/hg19 11q13.3(chr11:68835840-68846399)x1 copy number loss not provided [RCV000737578] Chr11:68835840..68846399 [GRCh37]
Chr11:11q13.3		 benign
GRCh37/hg19 11q13.3(chr11:68840397-68844693)x1 copy number loss not provided [RCV000737579] Chr11:68840397..68844693 [GRCh37]
Chr11:11q13.3		 benign
GRCh37/hg19 11q13.3(chr11:68840397-68844747)x1 copy number loss not provided [RCV000737580] Chr11:68840397..68844747 [GRCh37]
Chr11:11q13.3		 benign
GRCh37/hg19 11q13.3(chr11:68840397-68846399)x1 copy number loss not provided [RCV000737581] Chr11:68840397..68846399 [GRCh37]
Chr11:11q13.3		 benign
GRCh37/hg19 11q13.3(chr11:68844147-68846399)x1 copy number loss not provided [RCV000737582] Chr11:68844147..68846399 [GRCh37]
Chr11:11q13.3		 benign
GRCh37/hg19 11q13.3(chr11:68844198-68846399)x1 copy number loss not provided [RCV000737583] Chr11:68844198..68846399 [GRCh37]
Chr11:11q13.3		 benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_139075.4(TPCN2):c.1921-4G>A single nucleotide variant not provided [RCV000918671] Chr11:69085844 [GRCh38]
Chr11:68853312 [GRCh37]
Chr11:11q13.3		 likely benign
NM_139075.4(TPCN2):c.1653C>T (p.Ile551=) single nucleotide variant not provided [RCV000879346] Chr11:69081463 [GRCh38]
Chr11:68848931 [GRCh37]
Chr11:11q13.3		 benign
NM_139075.4(TPCN2):c.241G>A (p.Val81Ile) single nucleotide variant not provided [RCV000965192] Chr11:69054787 [GRCh38]
Chr11:68822255 [GRCh37]
Chr11:11q13.3		 benign
NM_139075.4(TPCN2):c.2042C>T (p.Ser681Leu) single nucleotide variant not provided [RCV000953658] Chr11:69086561 [GRCh38]
Chr11:68854029 [GRCh37]
Chr11:11q13.3		 benign
NM_139075.4(TPCN2):c.1213A>G (p.Arg405Gly) single nucleotide variant not specified [RCV004306907] Chr11:69072984 [GRCh38]
Chr11:68840452 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1259C>T (p.Pro420Leu) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850448]|not specified [RCV004029259] Chr11:69078510 [GRCh38]
Chr11:68845978 [GRCh37]
Chr11:11q13.3		 uncertain significance
NC_000011.9:g.(?_64973914)_(70052579_?)dup duplication Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] Chr11:64973914..70052579 [GRCh37]
Chr11:11q13.1-13.3		 uncertain significance
NM_139075.4(TPCN2):c.655G>A (p.Val219Ile) single nucleotide variant not provided [RCV001660777] Chr11:69063896 [GRCh38]
Chr11:69063896..69063897 [GRCh38]
Chr11:68831364 [GRCh37]
Chr11:68831364..68831365 [GRCh37]
Chr11:11q13.3		 benign
NM_139075.4(TPCN2):c.250C>T (p.Arg84Trp) single nucleotide variant not provided [RCV000879345] Chr11:69054796 [GRCh38]
Chr11:68822264 [GRCh37]
Chr11:11q13.3		 benign
NM_139075.4(TPCN2):c.546+4G>C single nucleotide variant not provided [RCV000954722] Chr11:69057698 [GRCh38]
Chr11:68825166 [GRCh37]
Chr11:11q13.3		 likely benign
NM_139075.4(TPCN2):c.1296C>T (p.Tyr432=) single nucleotide variant not provided [RCV000956975] Chr11:69078547 [GRCh38]
Chr11:68846015 [GRCh37]
Chr11:11q13.3		 benign
NM_139075.4(TPCN2):c.267C>T (p.Thr89=) single nucleotide variant not provided [RCV000956973] Chr11:69055190 [GRCh38]
Chr11:68822658 [GRCh37]
Chr11:11q13.3		 benign
NM_139075.4(TPCN2):c.711G>A (p.Leu237=) single nucleotide variant not provided [RCV000956974] Chr11:69063952 [GRCh38]
Chr11:68831420 [GRCh37]
Chr11:11q13.3		 benign
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_139075.4(TPCN2):c.1661G>A (p.Arg554His) single nucleotide variant not specified [RCV004205672] Chr11:69081471 [GRCh38]
Chr11:68848939 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.580T>C (p.Phe194Leu) single nucleotide variant Skin/hair/eye pigmentation, variation in, 10 [RCV001805756] Chr11:69062917 [GRCh38]
Chr11:68830385 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1738C>T (p.Arg580Cys) single nucleotide variant not specified [RCV004325439] Chr11:69083993 [GRCh38]
Chr11:68851461 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_139075.4(TPCN2):c.863A>G (p.Tyr288Cys) single nucleotide variant not specified [RCV004138824] Chr11:69070463 [GRCh38]
Chr11:68837931 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.649G>T (p.Ala217Ser) single nucleotide variant not specified [RCV004092595] Chr11:69062986 [GRCh38]
Chr11:68830454 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.27G>T (p.Glu9Asp) single nucleotide variant not specified [RCV004104519] Chr11:69049024 [GRCh38]
Chr11:68816492 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1151G>A (p.Arg384His) single nucleotide variant not specified [RCV004189819] Chr11:69072922 [GRCh38]
Chr11:68840390 [GRCh37]
Chr11:11q13.3		 likely benign
NM_139075.4(TPCN2):c.209C>T (p.Ser70Leu) single nucleotide variant not specified [RCV004235110] Chr11:69054755 [GRCh38]
Chr11:68822223 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.842C>T (p.Ala281Val) single nucleotide variant not specified [RCV004236553] Chr11:69070442 [GRCh38]
Chr11:68837910 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.2200G>A (p.Gly734Arg) single nucleotide variant not specified [RCV004216162] Chr11:69087894 [GRCh38]
Chr11:68855362 [GRCh37]
Chr11:11q13.3		 likely benign
NM_139075.4(TPCN2):c.1253A>G (p.Gln418Arg) single nucleotide variant not specified [RCV004115551] Chr11:69078504 [GRCh38]
Chr11:68845972 [GRCh37]
Chr11:11q13.3		 likely benign
NM_139075.4(TPCN2):c.313C>G (p.Leu105Val) single nucleotide variant not specified [RCV004133959] Chr11:69055236 [GRCh38]
Chr11:68822704 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.950G>T (p.Gly317Val) single nucleotide variant not specified [RCV004209323] Chr11:69071410 [GRCh38]
Chr11:68838878 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.115G>T (p.Ala39Ser) single nucleotide variant not specified [RCV004087451] Chr11:69054038 [GRCh38]
Chr11:68821506 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.2023G>C (p.Val675Leu) single nucleotide variant not specified [RCV004128324] Chr11:69086542 [GRCh38]
Chr11:68854010 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.946C>T (p.Arg316Trp) single nucleotide variant not specified [RCV004209435] Chr11:69071406 [GRCh38]
Chr11:68838874 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.326C>T (p.Ala109Val) single nucleotide variant not specified [RCV004196816] Chr11:69055249 [GRCh38]
Chr11:68822717 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.68C>T (p.Pro23Leu) single nucleotide variant not specified [RCV004208307] Chr11:69049065 [GRCh38]
Chr11:68816533 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.572G>A (p.Arg191His) single nucleotide variant not specified [RCV004138445] Chr11:69062909 [GRCh38]
Chr11:68830377 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1619T>C (p.Leu540Pro) single nucleotide variant not specified [RCV004078196] Chr11:69081429 [GRCh38]
Chr11:68848897 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1423G>A (p.Val475Ile) single nucleotide variant not specified [RCV004219599] Chr11:69078904 [GRCh38]
Chr11:68846372 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.479G>A (p.Gly160Asp) single nucleotide variant not specified [RCV004089919] Chr11:69057627 [GRCh38]
Chr11:68825095 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1733A>G (p.Asn578Ser) single nucleotide variant not specified [RCV004262527] Chr11:69083988 [GRCh38]
Chr11:68851456 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.779A>G (p.Glu260Gly) single nucleotide variant not specified [RCV004250035] Chr11:69067555 [GRCh38]
Chr11:68835023 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1273G>A (p.Ala425Thr) single nucleotide variant not specified [RCV004297773] Chr11:69078524 [GRCh38]
Chr11:68845992 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.728A>G (p.Gln243Arg) single nucleotide variant not specified [RCV004329853] Chr11:69067504 [GRCh38]
Chr11:68834972 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1810G>A (p.Val604Ile) single nucleotide variant not specified [RCV004341815] Chr11:69085258 [GRCh38]
Chr11:68852726 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.311C>T (p.Ser104Leu) single nucleotide variant not specified [RCV004346944] Chr11:69055234 [GRCh38]
Chr11:68822702 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1528G>A (p.Val510Ile) single nucleotide variant not specified [RCV004339050] Chr11:69079009 [GRCh38]
Chr11:68846477 [GRCh37]
Chr11:11q13.3		 likely benign
NM_139075.4(TPCN2):c.1847C>T (p.Pro616Leu) single nucleotide variant not specified [RCV004343187] Chr11:69085679 [GRCh38]
Chr11:68853147 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_139075.4(TPCN2):c.159C>T (p.Ile53=) single nucleotide variant not provided [RCV003409324] Chr11:69054082 [GRCh38]
Chr11:68821550 [GRCh37]
Chr11:11q13.3		 likely benign
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
NM_139075.4(TPCN2):c.1396G>A (p.Asp466Asn) single nucleotide variant not specified [RCV004470842] Chr11:69078779 [GRCh38]
Chr11:68846247 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1507G>A (p.Val503Met) single nucleotide variant not specified [RCV004470843] Chr11:69078988 [GRCh38]
Chr11:68846456 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.596C>T (p.Ser199Phe) single nucleotide variant not specified [RCV004470854] Chr11:69062933 [GRCh38]
Chr11:68830401 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.773T>C (p.Leu258Pro) single nucleotide variant not specified [RCV004470856] Chr11:69067549 [GRCh38]
Chr11:68835017 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1630A>G (p.Thr544Ala) single nucleotide variant not specified [RCV004470845] Chr11:69081440 [GRCh38]
Chr11:68848908 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.194G>A (p.Arg65Gln) single nucleotide variant not specified [RCV004470849] Chr11:69054740 [GRCh38]
Chr11:68822208 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.379A>T (p.Ser127Cys) single nucleotide variant not specified [RCV004470851] Chr11:69055302 [GRCh38]
Chr11:68822770 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.670G>T (p.Ala224Ser) single nucleotide variant not specified [RCV004470855] Chr11:69063911 [GRCh38]
Chr11:68831379 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1324G>A (p.Ala442Thr) single nucleotide variant not specified [RCV004470840] Chr11:69078575 [GRCh38]
Chr11:68846043 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.17C>T (p.Ala6Val) single nucleotide variant not specified [RCV004470847] Chr11:69049014 [GRCh38]
Chr11:68816482 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.442G>A (p.Gly148Arg) single nucleotide variant not specified [RCV004470852] Chr11:69057590 [GRCh38]
Chr11:68825058 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1883A>G (p.Gln628Arg) single nucleotide variant not specified [RCV004470848] Chr11:69085715 [GRCh38]
Chr11:68853183 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.2164G>A (p.Val722Met) single nucleotide variant not specified [RCV004470850] Chr11:69087190 [GRCh38]
Chr11:68854658 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1246G>A (p.Glu416Lys) single nucleotide variant not specified [RCV004470839] Chr11:69078497 [GRCh38]
Chr11:68845965 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1391G>A (p.Arg464His) single nucleotide variant not specified [RCV004470841] Chr11:69078774 [GRCh38]
Chr11:68846242 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.16G>A (p.Ala6Thr) single nucleotide variant not specified [RCV004470846] Chr11:69049013 [GRCh38]
Chr11:68816481 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.535G>A (p.Val179Met) single nucleotide variant not specified [RCV004470853] Chr11:69057683 [GRCh38]
Chr11:68825151 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.889G>A (p.Val297Met) single nucleotide variant not specified [RCV004470857] Chr11:69070489 [GRCh38]
Chr11:68837957 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.991C>T (p.Arg331Trp) single nucleotide variant not specified [RCV004470859] Chr11:69071953 [GRCh38]
Chr11:68839421 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.953A>G (p.Tyr318Cys) single nucleotide variant not specified [RCV004677284] Chr11:69071413 [GRCh38]
Chr11:68838881 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.1298A>G (p.Tyr433Cys) single nucleotide variant not specified [RCV004677282] Chr11:69078549 [GRCh38]
Chr11:68846017 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_139075.4(TPCN2):c.352T>C (p.Trp118Arg) single nucleotide variant not specified [RCV004677283] Chr11:69055275 [GRCh38]
Chr11:68822743 [GRCh37]
Chr11:11q13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1400
Count of miRNA genes:738
Interacting mature miRNAs:851
Transcripts:ENST00000294309, ENST00000442692, ENST00000534832, ENST00000535009, ENST00000542467
Prediction methods: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
407117126GWAS766102_Hduodenal ulcer QTL GWAS766102 (human)5e-09duodenal ulcer116905868769058688Human
407148999GWAS797975_Hheel bone mineral density QTL GWAS797975 (human)8e-62heel bone mineral densitybone mineral density (CMO:0001226)116908789569087896Human
407127360GWAS776336_Hbone fracture QTL GWAS776336 (human)1e-10bone fracture116905970769059708Human
407282882GWAS931858_Hbody height QTL GWAS931858 (human)6e-181body height (VT:0001253)body height (CMO:0000106)116906217069062171Human
407191360GWAS840336_Hhair colour measurement QTL GWAS840336 (human)2e-10hair colour measurementcoat/hair color measurement (CMO:0001808)116905253869052539Human
407316288GWAS965264_Hnervonoylcarnitine (C24:1) measurement QTL GWAS965264 (human)5e-22nervonoylcarnitine (C24:1) measurement116907569669075697Human
407248076GWAS897052_Htype 2 diabetes mellitus QTL GWAS897052 (human)0.0000005type 2 diabetes mellitus116906389669063897Human
407118027GWAS767003_Hduodenal ulcer QTL GWAS767003 (human)1e-09duodenal ulcer116905868769058688Human
407118933GWAS767909_Hhair colour measurement QTL GWAS767909 (human)1e-300hair colour measurementcoat/hair color measurement (CMO:0001808)116904997369049974Human
407285335GWAS934311_Hcreatinine measurement QTL GWAS934311 (human)2e-11creatinine measurementblood creatinine measurement (CMO:0000767)116907624769076248Human
407180759GWAS829735_Hhair color QTL GWAS829735 (human)8e-59hair color116908144869081449Human
407305054GWAS954030_Htype 2 diabetes mellitus QTL GWAS954030 (human)2e-08type 2 diabetes mellitus116906389669063897Human
407249626GWAS898602_Htype 2 diabetes mellitus QTL GWAS898602 (human)5e-10type 2 diabetes mellitus116906771469067715Human
407357275GWAS1006251_HBMI-adjusted hip circumference QTL GWAS1006251 (human)4e-15BMI-adjusted hip circumferencehip circumference (CMO:0000014)116908812769088128Human
407357274GWAS1006250_HBMI-adjusted hip circumference QTL GWAS1006250 (human)2e-14BMI-adjusted hip circumferencehip circumference (CMO:0000014)116907100369071004Human
407357273GWAS1006249_HBMI-adjusted hip circumference QTL GWAS1006249 (human)3e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)116905418069054181Human
407151204GWAS800180_Hheel bone mineral density QTL GWAS800180 (human)3e-63heel bone mineral densitybone mineral density (CMO:0001226)116908789569087896Human
407191652GWAS840628_Hhair colour measurement QTL GWAS840628 (human)2e-51hair colour measurementcoat/hair color measurement (CMO:0001808)116908144869081449Human
407143782GWAS792758_Hheel bone mineral density QTL GWAS792758 (human)5e-21heel bone mineral densitybone mineral density (CMO:0001226)116908789569087896Human
407120365GWAS769341_Hsunburn QTL GWAS769341 (human)8e-17sunburn116905042969050430Human
406894697GWAS543673_Hbody surface area QTL GWAS543673 (human)8e-10body surface area116905884969058850Human
407312494GWAS961470_Hlignoceroylcarnitine (C24) measurement QTL GWAS961470 (human)5e-27lignoceroylcarnitine (C24) measurement116907569669075697Human
407213420GWAS862396_Hheel bone mineral density QTL GWAS862396 (human)9e-51heel bone mineral densitybone mineral density (CMO:0001226)116908789569087896Human
407288556GWAS937532_Hcystatin C measurement QTL GWAS937532 (human)1e-13cystatin C measurementblood cystatin C level (CMO:0002777)116907624769076248Human
407194601GWAS843577_Hhair colour measurement QTL GWAS843577 (human)3e-09hair colour measurementcoat/hair color measurement (CMO:0001808)116905447969054480Human
407312490GWAS961466_Harachidoylcarnitine (C20) measurement QTL GWAS961466 (human)6e-12arachidoylcarnitine (C20) measurement116907569669075697Human
407194602GWAS843578_Hhair colour measurement QTL GWAS843578 (human)2e-28hair colour measurementcoat/hair color measurement (CMO:0001808)116908144869081449Human
407244147GWAS893123_Hretinal vasculature measurement QTL GWAS893123 (human)0.0000008retina blood vessel morphology trait (VT:0002792)116904958269049583Human
407319793GWAS968769_Hbody height QTL GWAS968769 (human)5e-34body height (VT:0001253)body height (CMO:0000106)116908812769088128Human
407292028GWAS941004_Hglomerular filtration rate QTL GWAS941004 (human)3e-11glomerular filtration rateglomerular filtration rate (CMO:0000490)116907624769076248Human
407093507GWAS742483_Hhair color QTL GWAS742483 (human)2e-308hair color116904997369049974Human
407298821GWAS947797_Htype 2 diabetes mellitus QTL GWAS947797 (human)0.000002type 2 diabetes mellitus116907893169078932Human
406937477GWAS586453_Hsuntan QTL GWAS586453 (human)1e-29suntan116904997369049974Human
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
407277718GWAS926694_Hhair color QTL GWAS926694 (human)1e-32hair color116908812769088128Human
407125789GWAS774765_Hhair color QTL GWAS774765 (human)4e-30hair color116907893169078932Human
407163549GWAS812525_Hheel bone mineral density QTL GWAS812525 (human)6e-13heel bone mineral densitybone mineral density (CMO:0001226)116908789569087896Human
407282588GWAS931564_Hbody height QTL GWAS931564 (human)2e-23body height (VT:0001253)body height (CMO:0000106)116908394669083947Human
407026585GWAS675561_Hhair color QTL GWAS675561 (human)0.0000003hair color116907269269072693Human
407282589GWAS931565_Hbody height QTL GWAS931565 (human)8e-205body height (VT:0001253)body height (CMO:0000106)116908812769088128Human
407179297GWAS828273_Hhair color QTL GWAS828273 (human)5e-188hair color116908789569087896Human
407019940GWAS668916_Hbody height QTL GWAS668916 (human)4e-14body height (VT:0001253)body height (CMO:0000106)116908789569087896Human
407094315GWAS743291_Hhair color QTL GWAS743291 (human)6e-48hair color116906389669063897Human
407340207GWAS989183_HBMI-adjusted hip circumference QTL GWAS989183 (human)4e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)116908812769088128Human
407340206GWAS989182_HBMI-adjusted hip circumference QTL GWAS989182 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)116907100369071004Human
407009193GWAS658169_Hhair colour measurement QTL GWAS658169 (human)1e-100hair colour measurementcoat/hair color measurement (CMO:0001808)116904997369049974Human
407162154GWAS811130_Hheel bone mineral density QTL GWAS811130 (human)2e-09heel bone mineral densitybone mineral density (CMO:0001226)116908789569087896Human
407222827GWAS871803_HBMI-adjusted hip circumference QTL GWAS871803 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)116908789569087896Human
407019693GWAS668669_Hbody height QTL GWAS668669 (human)2e-21body height (VT:0001253)body height (CMO:0000106)116908812769088128Human
407037502GWAS686478_Hheel bone mineral density QTL GWAS686478 (human)6e-23heel bone mineral densitybone mineral density (CMO:0001226)116906958969069590Human

Markers in Region
SHGC-146387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,847,132 - 68,847,335UniSTSGRCh37
Build 361168,603,708 - 68,603,911RGDNCBI36
Celera1166,187,218 - 66,187,421RGD
Cytogenetic Map11q13.3UniSTS
HuRef1165,186,360 - 65,186,563UniSTS
TNG Radiation Hybrid Map1131061.0UniSTS
G65699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,856,423 - 68,856,637UniSTSGRCh37
Build 361168,612,999 - 68,613,213RGDNCBI36
Celera1166,196,509 - 66,196,723RGD
Cytogenetic Map11q13.3UniSTS
HuRef1165,195,759 - 65,195,973UniSTS
SGC31049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,856,629 - 68,856,784UniSTSGRCh37
Build 361168,613,205 - 68,613,360RGDNCBI36
Celera1166,196,715 - 66,196,870RGD
Cytogenetic Map11q13.3UniSTS
HuRef1165,195,965 - 65,196,114UniSTS
TNG Radiation Hybrid Map1131083.0UniSTS
GeneMap99-GB4 RH Map11259.92UniSTS
Whitehead-RH Map11359.1UniSTS
NCBI RH Map11589.5UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS


Sequence


Ensembl Acc Id: ENST00000294309   ⟹   ENSP00000294309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,048,932 - 69,090,597 (+)Ensembl
Ensembl Acc Id: ENST00000442692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,055,162 - 69,090,604 (+)Ensembl
Ensembl Acc Id: ENST00000534832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,049,030 - 69,054,390 (+)Ensembl
Ensembl Acc Id: ENST00000535009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,048,934 - 69,079,847 (+)Ensembl
Ensembl Acc Id: ENST00000542467   ⟹   ENSP00000445551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,048,961 - 69,088,203 (+)Ensembl
Ensembl Acc Id: ENST00000635811   ⟹   ENSP00000490341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,048,934 - 69,136,296 (+)Ensembl
Ensembl Acc Id: ENST00000637342   ⟹   ENSP00000490171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,048,975 - 69,136,264 (+)Ensembl
Ensembl Acc Id: ENST00000637504   ⟹   ENSP00000489759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1169,048,932 - 69,136,316 (+)Ensembl
RefSeq Acc Id: NM_139075   ⟹   NP_620714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381169,048,932 - 69,090,597 (+)NCBI
GRCh371168,816,350 - 68,858,072 (+)RGD
Build 361168,572,926 - 68,614,648 (+)NCBI Archive
Celera1166,156,085 - 66,198,158 (+)RGD
HuRef1165,155,518 - 65,197,367 (+)ENTREZGENE
CHM1_11168,700,007 - 68,741,850 (+)NCBI
T2T-CHM13v2.01169,059,173 - 69,101,661 (+)NCBI
Sequence:
RefSeq Acc Id: NP_620714   ⟸   NM_139075
- UniProtKB: Q9NT82 (UniProtKB/Swiss-Prot),   Q8NHX9 (UniProtKB/Swiss-Prot),   A0A1B0GUM5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000445551   ⟸   ENST00000542467
Ensembl Acc Id: ENSP00000490341   ⟸   ENST00000635811
Ensembl Acc Id: ENSP00000294309   ⟸   ENST00000294309
Ensembl Acc Id: ENSP00000489759   ⟸   ENST00000637504
Ensembl Acc Id: ENSP00000490171   ⟸   ENST00000637342
Protein Domains
Ion transport

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NHX9-F1-model_v2 AlphaFold Q8NHX9 1-752 view protein structure

Promoters
RGD ID:6789488
Promoter ID:HG_KWN:13534
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356782,   NM_139075,   UC001OOR.2,   UC009YSK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361168,572,746 - 68,573,246 (+)MPROMDB
RGD ID:7221345
Promoter ID:EPDNEW_H16418
Type:initiation region
Name:TPCN2_1
Description:two pore segment channel 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381169,048,947 - 69,049,007EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20820 AgrOrtholog
COSMIC TPCN2 COSMIC
Ensembl Genes ENSG00000162341 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000294309 ENTREZGENE
  ENST00000294309.8 UniProtKB/Swiss-Prot
  ENST00000542467.1 UniProtKB/TrEMBL
  ENST00000635811.1 UniProtKB/TrEMBL
  ENST00000637342.1 UniProtKB/TrEMBL
  ENST00000637504.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162341 GTEx
HGNC ID HGNC:20820 ENTREZGENE
Human Proteome Map TPCN2 Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPC2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:219931 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 219931 ENTREZGENE
OMIM 612163 OMIM
PANTHER PTHR46768 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TWO PORE CALCIUM CHANNEL PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134937857 PharmGKB
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GTM1_HUMAN UniProtKB/TrEMBL
  A0A1B0GUM5 ENTREZGENE, UniProtKB/TrEMBL
  E7ETX0_HUMAN UniProtKB/TrEMBL
  Q59G56_HUMAN UniProtKB/TrEMBL
  Q8NHX9 ENTREZGENE
  Q9NT82 ENTREZGENE
  TPC2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q9NT82 UniProtKB/Swiss-Prot