TRPV6 (transient receptor potential cation channel subfamily V member 6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55503
Gene name Transient receptor potential cation channel subfamily V member 6
Gene symbol TRPV6
Synonyms (NCBI Gene)
ABP/ZFCAT1CATLECAC2HRPTTNHSA277909LP6728ZFAB
Chromosome 7
Chromosome location 7q34
Summary This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this prot
SNPs SNP information provided by dbSNP.
10
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs529924080 A>C,G Likely-pathogenic Missense variant, coding sequence variant
rs755916513 G>A Likely-pathogenic Coding sequence variant, missense variant
rs759393722 C>T Likely-pathogenic Coding sequence variant, missense variant
rs766719790 ->AGCA Pathogenic Coding sequence variant, frameshift variant
rs780306040 C>G,T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
13
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT029133 hsa-miR-26b-5p Microarray 19088304
MIRT1457883 hsa-miR-1254 CLIP-seq
MIRT1457884 hsa-miR-146b-3p CLIP-seq
MIRT1457885 hsa-miR-3116 CLIP-seq
MIRT1457886 hsa-miR-3130-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
VDR Unknown 17293108;20227497;22563729
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005262 Function Calcium channel activity IBA
GO:0005262 Function Calcium channel activity IDA 11097838, 15184369, 23612980
GO:0005262 Function Calcium channel activity IEA
GO:0005262 Function Calcium channel activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606680 14006 ENSG00000165125
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H1D0
Protein name Transient receptor potential cation channel subfamily V member 6 (TrpV6) (CaT-like) (CaT-L) (Calcium transport protein 1) (CaT1) (Epithelial calcium channel 2) (ECaC2)
Protein function Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine (PubMed:11097838, PubMed:11248124, PubMed:11278579, PubMed:15184369, PubMed:23612980, PubMed:29258289). Important for normal Ca(2+) ion home
PDB 6BO8 , 6BO9 , 6BOA , 6D7S , 6D7T , 6E2F , 7K4A , 7K4B , 7K4C , 7K4D , 7K4E , 7K4F , 7S88 , 7S89 , 7S8B , 7S8C , 8FOA , 8FOB , 8SP8 , 9CUH , 9CUI , 9CUJ , 9CUK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 89 → 187 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 144 → 233 Ankyrin repeats (3 copies) Repeat
PF00520 Ion_trans 368 → 630 Ion transport protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in the gastrointestinal tract, including esophagus, stomach, duodenum, jejunum, ileum and colon, and in pancreas, placenta, prostate and salivary gland. Expressed at moderate levels in liver, kidney and testis.
Sequence 
MGPLQGDGGPALGGADVAPRLSPVRVWPRPQAPKEPALHPMGLSLPKEKGLILCLWSKFC
RWFQRRESWAQSRDEQNLLQQKRIWESPLLLAAKDNDVQALNKLLKYEDCKVHQRGAMGE
TALHIAALYDNLEAAMVLMEAAPELVFEPMTSELYEGQTALHIAVVNQNMNLVRALLARR
ASVSARATGTAFRRSPCNLIYFGEHPLSFAACVNSEEIVRLLIEHGADIRAQDSLGNTVL
HILILQPNKTFACQMYNLLLSYDRHGDHLQPLDLVPNHQGLTPFKLAGVEGNTVMFQHLM
QKRKHTQWTYGPLTSTLYDLTEIDSSGDEQSLLELIITTKKREARQILDQTPVKELVSLK
WKRYGRPYFCMLGAIYLLYIICFTMCCIYRPLKPRTNNRTSPRDNTLLQQKLLQEAYMTP
KDDIRLVGELVTVIGAIIILLVEVPDIFRMGVTRFFGQTILGGPFHVLIITYAFMVLVTM
VMRLISASGEVVPMSFALVLGWCNVMYFARGFQMLGPFTIMIQKMIFGDLMRFCWLMAVV
ILGFASAFYIIFQTEDPEELGHFYDYPMALFSTFELFLTIIDGPANYNVDLPFMYSITYA
AFAIIATLLMLNLLIAMMGDTHWRVAHERDELWRAQIVATTVMLERKLPRCLWPRSGICG
REYGLGDRWFLRVEDRQDLNRQRIQRYAQAFHTRGSEDLDKDSVEKLELGCPFSPHLSLP
MPSVSRSTSRSSANWERLRQGTLRRDLRGIINRGLEDGESWEYQI
Sequence length 765
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Salivary secretion
Mineral absorption 		  TRP channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Embryonic calcium dysregulation Likely pathogenic rs780306040 RCV001009621
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperparathyroidism Likely pathogenic rs780306040 RCV001009621
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperparathyroidism, transient neonatal Likely pathogenic; Pathogenic rs1266068657, rs2486212016, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs750624044 RCV003314503
RCV003494601
RCV000721913
RCV000721915
RCV000721916
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metaphyseal fractures Likely pathogenic rs780306040 RCV001009621
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL DOMINANT HEREDITARY CHRONIC PANCREATITIS — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (81)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 18245667
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 19857260
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 28839241 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 11278579, 11401523, 14586412, 19857260
★★★★★
★☆☆☆☆
Found in Text Mining only
Bicuspid aortic valve Bicuspid aortic valve BEFREE 29147966
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder LHGDN 14604453
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma BEFREE 18245667
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 1728611, 18245667, 19996302, 21308737, 22807578, 30199553, 30210643
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18245667, 19996302, 32895467 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bronchitis, Chronic Gastric Cancer BEFREE 29942122
★★★★★
★☆☆☆☆
Found in Text Mining only