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

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55503
Gene name Gene Name - the full gene name approved by the HGNC.
Transient receptor potential cation channel subfamily V member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRPV6
Synonyms (NCBI Gene) Gene synonyms aliases
ABP/ZF, CAT1, CATL, ECAC2, HRPTTN, HSA277909, LP6728, ZFAB
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HRPTTN
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q34
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
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.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
VDR Unknown 17293108;20227497;22563729
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Ion channel activity IBA 21873635
GO:0005262 Function Calcium channel activity IBA 21873635
GO:0005262 Function Calcium channel activity IDA 11097838, 15184369, 23612980
GO:0005515 Function Protein binding IPI 15894168, 17197020, 25559186
GO:0005516 Function Calmodulin binding IDA 11278579
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606680 14006 ENSG00000165125
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Hyperparathyroidism HYPERPARATHYROIDISM, NEONATAL SEVERE, Neonatal severe primary hyperparathyroidism rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709
View all (14 more)		 29861107
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Intestinal Hypomagnesemia intestinal hypomagnesemia 1 GenCC
Pancreatitis pancreatitis GenCC
Neuroticism Neuroticism GWAS
Anxiety Disorder Anxiety Disorder GWAS
Show/Hide Text Mining Associations (33)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 19857260
Adenocarcinoma of Lung Associate 34111567
Atrial Fibrillation Associate 28839241
Breast Neoplasms Associate 18245667, 19996302, 32895467
Carcinogenesis Associate 34111567
Carcinoma Hepatocellular Associate 35181592
Carcinoma Non Small Cell Lung Associate 24761864
Carcinoma Renal Cell Inhibit 35558077
Colitis Ulcerative Associate 32455137
Colonic Neoplasms Associate 32186440