TRPV5 (transient receptor potential cation channel subfamily V member 5) - Rat Genome Database

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Gene: TRPV5 (transient receptor potential cation channel subfamily V member 5) Homo sapiens
Analyze
Symbol: TRPV5
Name: transient receptor potential cation channel subfamily V member 5
RGD ID: 1350143
HGNC Page HGNC
Description: Exhibits calcium channel activity. Involved in calcium ion import across plasma membrane. Localizes to integral component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calcium transport protein 2; calcium transporter 2; CAT2; ECaC; ECAC1; epithelial calcium channel 1; osm-9-like TRP channel 3; OTRPC3; transient receptor potential cation channel, subfamily V, member 5
RGD Orthologs
Mouse
Rat
Dog
Squirrel
Pig
Green Monkey
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
GRCh38.p13 Ensembl7142,908,101 - 142,933,746 (-)EnsemblGRCh38hg38GRCh38
GRCh387142,908,101 - 142,933,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377142,605,267 - 142,630,843 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,315,770 - 142,340,942 (-)NCBINCBI36hg18NCBI36
Build 347142,122,103 - 142,147,742NCBI
Celera7137,442,506 - 137,467,678 (-)NCBI
Cytogenetic Map7q34NCBI
HuRef7136,943,932 - 136,969,107 (-)NCBIHuRef
CHM1_17142,542,073 - 142,567,695 (-)NCBICHM1_1
CRA_TCAGchr7v27142,007,517 - 142,032,689 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10944439   PMID:10945469   PMID:11549322   PMID:11719848   PMID:11765215   PMID:11846401   PMID:12077606   PMID:12093812   PMID:12198212   PMID:12390878   PMID:12477932   PMID:12660155  
PMID:12690205   PMID:12765698   PMID:15489237   PMID:15665527   PMID:16044309   PMID:16189514   PMID:16239475   PMID:16291808   PMID:16382100   PMID:16564089   PMID:16763551   PMID:17018846  
PMID:17217059   PMID:17233615   PMID:18077461   PMID:18305097   PMID:18596722   PMID:18703016   PMID:18768590   PMID:19131347   PMID:19140341   PMID:19157541   PMID:19261737   PMID:19295174  
PMID:19423690   PMID:19453261   PMID:20178461   PMID:20405023   PMID:20547482   PMID:20686800   PMID:21035851   PMID:21063097   PMID:21187068   PMID:21576356   PMID:21873635   PMID:21952826  
PMID:22354706   PMID:23024298   PMID:23469151   PMID:23968883   PMID:23970553   PMID:24592736   PMID:24761864   PMID:25139832   PMID:25164318   PMID:25378396   PMID:26089600   PMID:26186194  
PMID:26837804   PMID:27291418   PMID:28514442   PMID:28847730   PMID:29323279   PMID:30666830   PMID:31428848   PMID:31471161   PMID:31586073  


Genomics

Comparative Map Data
TRPV5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7142,908,101 - 142,933,746 (-)EnsemblGRCh38hg38GRCh38
GRCh387142,908,101 - 142,933,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377142,605,267 - 142,630,843 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,315,770 - 142,340,942 (-)NCBINCBI36hg18NCBI36
Build 347142,122,103 - 142,147,742NCBI
Celera7137,442,506 - 137,467,678 (-)NCBI
Cytogenetic Map7q34NCBI
HuRef7136,943,932 - 136,969,107 (-)NCBIHuRef
CHM1_17142,542,073 - 142,567,695 (-)NCBICHM1_1
CRA_TCAGchr7v27142,007,517 - 142,032,689 (-)NCBI
Trpv5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39641,628,595 - 41,658,158 (-)NCBIGRCm39mm39
GRCm39 Ensembl641,629,107 - 41,657,703 (-)Ensembl
GRCm38641,651,661 - 41,681,224 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl641,652,173 - 41,680,769 (-)EnsemblGRCm38mm10GRCm38
MGSCv37641,602,769 - 41,630,722 (-)NCBIGRCm37mm9NCBIm37
MGSCv36641,582,737 - 41,610,262 (-)NCBImm8
Celera641,605,358 - 41,633,307 (-)NCBICelera
Cytogenetic Map6B2.1NCBI
Trpv5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2470,536,432 - 70,562,743 (-)NCBI
Rnor_6.0 Ensembl470,947,717 - 70,974,006 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0470,947,615 - 70,974,004 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04135,734,774 - 135,761,069 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4469,361,051 - 69,387,346 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1469,637,182 - 69,663,476 (-)NCBI
Celera465,501,468 - 65,527,672 (-)NCBICelera
Cytogenetic Map4q23NCBI
TRPV5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1166,647,070 - 6,678,080 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl166,650,574 - 6,676,963 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha167,560,511 - 7,591,662 (+)NCBI
ROS_Cfam_1.0166,557,909 - 6,589,144 (+)NCBI
UMICH_Zoey_3.1166,511,319 - 6,542,465 (+)NCBI
UNSW_CanFamBas_1.0166,362,763 - 6,393,915 (+)NCBI
UU_Cfam_GSD_1.0166,421,480 - 6,452,686 (+)NCBI
Trpv5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511812,503,983 - 12,529,339 (+)NCBI
SpeTri2.0NW_004936527375,922 - 399,446 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPV5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl187,043,646 - 7,348,381 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1187,285,186 - 7,341,965 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2187,540,598 - 7,549,310 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRPV5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121111,787,214 - 111,816,893 (-)NCBI
ChlSab1.1 Ensembl21111,787,694 - 111,811,847 (-)Ensembl

Position Markers
SHGC-142460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,619,858 - 142,620,207UniSTSGRCh37
Build 367142,329,980 - 142,330,329RGDNCBI36
Celera7137,456,716 - 137,457,065RGD
Cytogenetic Map7q35UniSTS
HuRef7136,958,146 - 136,958,495UniSTS
CRA_TCAGchr7v27142,021,727 - 142,022,076UniSTS
TNG Radiation Hybrid Map764436.0UniSTS
TRPV5__5145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,605,182 - 142,605,923UniSTSGRCh37
Build 367142,315,304 - 142,316,045RGDNCBI36
Celera7137,442,040 - 137,442,781RGD
HuRef7136,943,466 - 136,944,207UniSTS
CRA_TCAGchr7v27142,007,051 - 142,007,792UniSTS
SHGC-33735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,611,887 - 142,612,016UniSTSGRCh37
Build 367142,322,009 - 142,322,138RGDNCBI36
Celera7137,448,745 - 137,448,874RGD
Cytogenetic Map7q35UniSTS
HuRef7136,950,175 - 136,950,304UniSTS
CRA_TCAGchr7v27142,013,756 - 142,013,885UniSTS
TNG Radiation Hybrid Map764246.0UniSTS
GeneMap99-GB4 RH Map7653.5UniSTS
Whitehead-RH Map7628.6UniSTS
RH18225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,611,821 - 142,611,959UniSTSGRCh37
Build 367142,321,943 - 142,322,081RGDNCBI36
Celera7137,448,679 - 137,448,817RGD
Cytogenetic Map7q35UniSTS
HuRef7136,950,109 - 136,950,247UniSTS
CRA_TCAGchr7v27142,013,690 - 142,013,828UniSTS
GeneMap99-GB4 RH Map7653.5UniSTS
NCBI RH Map71412.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:829
Count of miRNA genes:589
Interacting mature miRNAs:659
Transcripts:ENST00000265310, ENST00000439304, ENST00000442623
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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 11
Low 6 115 1 7 131 1 17 1 528 121 360 3 6 14
Below cutoff 1765 2021 1089 300 1156 156 3097 1624 2970 91 765 1142 148 915 2066 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000265310   ⟹   ENSP00000265310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7142,908,101 - 142,933,746 (-)Ensembl
RefSeq Acc Id: ENST00000439304   ⟹   ENSP00000406361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7142,908,514 - 142,933,441 (-)Ensembl
RefSeq Acc Id: ENST00000442623   ⟹   ENSP00000406572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7142,924,795 - 142,933,723 (-)Ensembl
RefSeq Acc Id: NM_019841   ⟹   NP_062815
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387142,908,101 - 142,933,746 (-)NCBI
GRCh377142,605,648 - 142,630,820 (-)ENTREZGENE
Build 367142,315,770 - 142,340,942 (-)NCBI Archive
HuRef7136,943,932 - 136,969,107 (-)ENTREZGENE
CHM1_17142,542,073 - 142,567,695 (-)NCBI
CRA_TCAGchr7v27142,007,517 - 142,032,689 (-)ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_062815   ⟸   NM_019841
- UniProtKB: Q9NQA5 (UniProtKB/Swiss-Prot),   A0A0A6YY98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000406361   ⟸   ENST00000439304
RefSeq Acc Id: ENSP00000406572   ⟸   ENST00000442623
RefSeq Acc Id: ENSP00000265310   ⟸   ENST00000265310
Protein Domains
ANK_REP_REGION

Promoters
RGD ID:7212147
Promoter ID:EPDNEW_H11819
Type:initiation region
Name:TRPV5_1
Description:transient receptor potential cation channel subfamily V member5
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
GRCh387142,933,746 - 142,933,806EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 copy number loss See cases [RCV000050639] Chr7:142578948..144254897 [GRCh38]
Chr7:142528609..143951990 [GRCh37]
Chr7:141967554..143582923 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35
pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
NM_019841.6(TRPV5):c.1969G>A (p.Glu657Lys) single nucleotide variant Malignant melanoma [RCV000067708] Chr7:142908735 [GRCh38]
Chr7:142605901 [GRCh37]
Chr7:142316023 [NCBI36]
Chr7:7q34
not provided
NM_019841.6(TRPV5):c.1612C>T (p.Leu538Phe) single nucleotide variant Malignant melanoma [RCV000067709] Chr7:142912658 [GRCh38]
Chr7:142609824 [GRCh37]
Chr7:142319946 [NCBI36]
Chr7:7q34
not provided
NM_019841.6(TRPV5):c.1203C>T (p.Leu401=) single nucleotide variant Malignant melanoma [RCV000067710] Chr7:142915488 [GRCh38]
Chr7:142612658 [GRCh37]
Chr7:142322780 [NCBI36]
Chr7:7q34
not provided
NM_019841.6(TRPV5):c.572C>T (p.Ala191Val) single nucleotide variant Malignant melanoma [RCV000061576] Chr7:142929036 [GRCh38]
Chr7:142626131 [GRCh37]
Chr7:142336253 [NCBI36]
Chr7:7q34
not provided
NM_019841.7(TRPV5):c.1035G>A (p.Thr345=) single nucleotide variant not provided [RCV000054755] Chr7:142925616 [GRCh38]
Chr7:142622711 [GRCh37]
Chr7:7q34
uncertain significance
NM_019841.7(TRPV5):c.1829G>A (p.Arg610His) single nucleotide variant not provided [RCV000054756] Chr7:142909556 [GRCh38]
Chr7:142606722 [GRCh37]
Chr7:7q34
uncertain significance
NM_019841.7(TRPV5):c.1968G>A (p.Lys656=) single nucleotide variant not provided [RCV000054757] Chr7:142908736 [GRCh38]
Chr7:142605902 [GRCh37]
Chr7:7q34
uncertain significance
NM_019841.7(TRPV5):c.33C>T (p.Pro11=) single nucleotide variant not provided [RCV000054758] Chr7:142933427 [GRCh38]
Chr7:142630524 [GRCh37]
Chr7:7q34
uncertain significance
NM_019841.7(TRPV5):c.470G>A (p.Arg157His) single nucleotide variant not provided [RCV000054759] Chr7:142929445 [GRCh38]
Chr7:142626540 [GRCh37]
Chr7:7q34
uncertain significance
NM_019841.7(TRPV5):c.535G>A (p.Val179Met) single nucleotide variant not provided [RCV000054760] Chr7:142929073 [GRCh38]
Chr7:142626168 [GRCh37]
Chr7:7q34
uncertain significance
NM_019841.7(TRPV5):c.966C>T (p.Asn322=) single nucleotide variant not provided [RCV000054761] Chr7:142925685 [GRCh38]
Chr7:142622780 [GRCh37]
Chr7:7q34
uncertain significance
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35
uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35
benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_019841.7(TRPV5):c.787C>T (p.Arg263Trp) single nucleotide variant not provided [RCV000965766] Chr7:142928210 [GRCh38]
Chr7:142625305 [GRCh37]
Chr7:7q34
benign
NM_019841.7(TRPV5):c.1032T>C (p.Thr344=) single nucleotide variant not provided [RCV000947079] Chr7:142925619 [GRCh38]
Chr7:142622714 [GRCh37]
Chr7:7q34
benign
NM_019841.7(TRPV5):c.666T>C (p.Tyr222=) single nucleotide variant not provided [RCV000947081] Chr7:142928787 [GRCh38]
Chr7:142625882 [GRCh37]
Chr7:7q34
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_019841.7(TRPV5):c.1687A>G (p.Thr563Ala) single nucleotide variant not provided [RCV000948181] Chr7:142912583 [GRCh38]
Chr7:142609749 [GRCh37]
Chr7:7q34
benign
NM_019841.7(TRPV5):c.843G>A (p.Thr281=) single nucleotide variant not provided [RCV000947080] Chr7:142928154 [GRCh38]
Chr7:142625249 [GRCh37]
Chr7:7q34
benign
NM_019841.7(TRPV5):c.461A>G (p.His154Arg) single nucleotide variant not provided [RCV000947082] Chr7:142929454 [GRCh38]
Chr7:142626549 [GRCh37]
Chr7:7q34
benign
GRCh37/hg19 7q34(chr7:142565890-142706787)x3 copy number gain not provided [RCV000849722] Chr7:142565890..142706787 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34(chr7:142568958-142706787)x3 copy number gain not provided [RCV000848853] Chr7:142568958..142706787 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
NM_019841.7(TRPV5):c.68T>C (p.Leu23Pro) single nucleotide variant not provided [RCV000887133] Chr7:142933392 [GRCh38]
Chr7:142630489 [GRCh37]
Chr7:7q34
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3145 AgrOrtholog
COSMIC TRPV5 COSMIC
Ensembl Genes ENSG00000127412 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000274348 UniProtKB/TrEMBL
Ensembl Protein ENSP00000265310 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000406361 UniProtKB/TrEMBL
  ENSP00000406572 UniProtKB/Swiss-Prot
  ENSP00000483049 UniProtKB/TrEMBL
  ENSP00000488246 UniProtKB/TrEMBL
  ENSP00000488418 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265310 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000439304 UniProtKB/TrEMBL
  ENST00000442623 UniProtKB/Swiss-Prot
  ENST00000621710 UniProtKB/TrEMBL
  ENST00000633067 UniProtKB/TrEMBL
  ENST00000633909 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000127412 GTEx
  ENSG00000274348 GTEx
HGNC ID HGNC:3145 ENTREZGENE
Human Proteome Map TRPV5 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV5/TRPV6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56302 ENTREZGENE
OMIM 606679 OMIM
PANTHER PTHR10582 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35045 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ECACCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ECACCHANNEL2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A6YY98 ENTREZGENE, UniProtKB/TrEMBL
  A0A0J9YXI7_HUMAN UniProtKB/TrEMBL
  H7C2J6_HUMAN UniProtKB/TrEMBL
  Q9NQA5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A4D2H7 UniProtKB/Swiss-Prot
  E9PBZ6 UniProtKB/Swiss-Prot
  Q8N4C1 UniProtKB/Swiss-Prot
  Q8NDW5 UniProtKB/Swiss-Prot
  Q8NDX7 UniProtKB/Swiss-Prot
  Q8NDX8 UniProtKB/Swiss-Prot
  Q96PM6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPV5  transient receptor potential cation channel subfamily V member 5  TRPV5  transient receptor potential cation channel, subfamily V, member 5  Symbol and/or name change 5135510 APPROVED