• Gene id: 55503

Gene Summary

• Gene Symbol: TRPV6   Gene   UCSC   Ensembl
• Aliases: ABP/ZF, CAT1, CATL, ECAC2, HRPTTN, HSA277909, LP6728, ZFAB
• Gene name: transient receptor potential cation channel subfamily V member 6
• Alternate names: transient receptor potential cation channel subfamily V member 6, Alu-binding protein with zinc finger domain, calcium transport protein 1, calcium transporter-like protein, epithelial apical membrane calcium transporter/channel CaT1, epithelial calcium channe,
• Gene location: 7q34 (142885744: 142871207)     Exons: 15     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 608314

Protein Summary

• Protein general information: Q9H1D0  
  • 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)
  • Length: 765  
  • Mass: 87286
  • 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:

  MGPLQGDGGPALGGADVAPRLSPVRVWPRPQAPKEPALHPMGLSLPKEKGLILCLWSKFCRWFQRRESWAQSRDE
  QNLLQQKRIWESPLLLAAKDNDVQALNKLLKYEDCKVHQRGAMGETALHIAALYDNLEAAMVLMEAAPELVFEPM
  TSELYEGQTALHIAVVNQNMNLVRALLARRASVSARATGTAFRRSPCNLIYFGEHPLSFAACVNSEEIVRLLIEH
  GADIRAQDSLGNTVLHILILQPNKTFACQMYNLLLSYDRHGDHLQPLDLVPNHQGLTPFKLAGVEGNTVMFQHLM
  QKRKHTQWTYGPLTSTLYDLTEIDSSGDEQSLLELIITTKKREARQILDQTPVKELVSLKWKRYGRPYFCMLGAI
  YLLYIICFTMCCIYRPLKPRTNNRTSPRDNTLLQQKLLQEAYMTPKDDIRLVGELVTVIGAIIILLVEVPDIFRM
  GVTRFFGQTILGGPFHVLIITYAFMVLVTMVMRLISASGEVVPMSFALVLGWCNVMYFARGFQMLGPFTIMIQKM
  IFGDLMRFCWLMAVVILGFASAFYIIFQTEDPEELGHFYDYPMALFSTFELFLTIIDGPANYNVDLPFMYSITYA
  AFAIIATLLMLNLLIAMMGDTHWRVAHERDELWRAQIVATTVMLERKLPRCLWPRSGICGREYGLGDRWFLRVED
  RQDLNRQRIQRYAQAFHTRGSEDLDKDSVEKLELGCPFSPHLSLPMPSVSRSTSRSSANWERLRQGTLRRDLRGI
  INRGLEDGESWEYQI

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR005821  IPR024862   IPR008344  IPR008345  
  • Prosite: PS50297 PS50088
  • PDB: 6BO8 6BO9 6BOA 6D7S 6D7T 6E2F
  • PDBsum: 6BO8 6BO9 6BOA 6D7S 6D7T 6E2F
  • STRING: ENSP00000352358
• Other Databases: GeneCards:  TRPV6  Malacards:  TRPV6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005262	calcium channel activity	IBA	molecular function
GO:0098703	calcium ion import across plasma membrane	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005216	ion channel activity	IBA	molecular function
GO:0005262	calcium channel activity	IDA	molecular function
GO:0006816	calcium ion transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005262	calcium channel activity	IDA	molecular function
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0098703	calcium ion import across plasma membrane	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0055074	calcium ion homeostasis	ISS	biological process
GO:0051592	response to calcium ion	ISS	biological process
GO:0006816	calcium ion transport	IMP	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0098703	calcium ion import across plasma membrane	ISS	biological process
GO:0098703	calcium ion import across plasma membrane	ISS	biological process
GO:0098703	calcium ion import across plasma membrane	IMP	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005516	calmodulin binding	IDA	molecular function
GO:0005262	calcium channel activity	IDA	molecular function
GO:0017158	regulation of calcium ion-dependent exocytosis	NAS	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006816	calcium ion transport	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04970	Salivary secretion
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray