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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 nameGene Name - the full gene name approved by the HGNC.
Transient receptor potential cation channel subfamily V member 6
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TRPV6
SynonymsGene synonyms aliases
ABP/ZF, CAT1, CATL, ECAC2, HRPTTN, HSA277909, LP6728, ZFAB
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q34
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
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 IDsOther 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
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
Sequence 
MGPLQGDGGPALGGADVAPRLSPVRVWPRPQAPKEPALHPMGLSLPKEKGLILCLWSKFC
RWFQRRESWAQSRDEQNLLQQKRIWESPLLLAAKDNDVQALNKLLKYEDCKVHQRGAMGE
TALHIAALYDNLEAAMVLMEAAPELVFEPMTSELYEGQTALHIAVVNQNMNLVRALLARR
ASVSARATGTAFRRSPCNLIYFGEHPLSFAACVNSEEIVRLLIEHGADIRAQDSLGNTVL
HILILQPNKTFACQMYNLLLSYDRHGDHLQPLDLVPNHQGLTPFKLAGVEGNTVMFQHLM
QKRKHTQWTYGPLTSTLYDLTEIDSSGDEQSLLELIITTKKREARQILDQTPVKELVSLK
WKRYGRPYFCMLGAIYLLYIICFTMCCIYRPLKPRTNNRTSPRDNTLLQQKLLQEAYMTP
KDDIRLVGELVTVIGAIIILLVEVPDIFRMGVTRFFGQTILGGPFHVLIITYAFMVLVTM
VMRLISASGEVVPMSFALVLGWCNVMYFARGFQMLGPFTIMIQKMIFGDLMRFCWLMAVV
ILGFASAFYIIFQTEDPEELGHFYDYPMALFSTFELFLTIIDGPANYNVDLPFMYSITYA
AFAIIATLLMLNLLIAMMGDTHWRVAHERDELWRAQIVATTVMLERKLPRCLWPRSGICG
REYGLGDRWFLRVEDRQDLNRQRIQRYAQAFHTRGSEDLDKDSVEKLELGCPFSPHLSLP
MPSVSRSTSRSSANWERLRQGTLRRDLRGIINRGLEDGESWEYQI
Sequence length 765
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Salivary secretion
Mineral absorption 		  TRP channels
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term 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, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170 29861107
Unknown
Disease name Disease term dbSNP ID References
Malignant neoplasm Malignant Neoplasms 29299148
Motor delay Clumsiness - motor delay
Osteopenia Osteopenia
Sclerocystic ovaries Sclerocystic Ovaries 21411543

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