Seroatlas · Human Serome Atlas

TRPV6

Transient receptor potential cation channel subfamily V member 6

Also known as: CaT1, ECAC2, TRPV6_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H1D0
Gene: TRPV6
Ensembl: ENSG00000165125
Chromosome: 7
Canonical length: 765 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Quaternary structure: Homotetramer

OverviewNCBI 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 protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]

Canonical amino-acid sequenceUniProt

765 residues, UniProt reviewed canonical sequence.

>Q9H1D0|TRPV6
     1  MGPLQGDGGP ALGGADVAPR LSPVRVWPRP QAPKEPALHP MGLSLPKEKG LILCLWSKFC
    61  RWFQRRESWA QSRDEQNLLQ QKRIWESPLL LAAKDNDVQA LNKLLKYEDC KVHQRGAMGE
   121  TALHIAALYD NLEAAMVLME AAPELVFEPM TSELYEGQTA LHIAVVNQNM NLVRALLARR
   181  ASVSARATGT AFRRSPCNLI YFGEHPLSFA ACVNSEEIVR LLIEHGADIR AQDSLGNTVL
   241  HILILQPNKT FACQMYNLLL SYDRHGDHLQ PLDLVPNHQG LTPFKLAGVE GNTVMFQHLM
   301  QKRKHTQWTY GPLTSTLYDL TEIDSSGDEQ SLLELIITTK KREARQILDQ TPVKELVSLK
   361  WKRYGRPYFC MLGAIYLLYI ICFTMCCIYR PLKPRTNNRT SPRDNTLLQQ KLLQEAYMTP
   421  KDDIRLVGEL VTVIGAIIIL LVEVPDIFRM GVTRFFGQTI LGGPFHVLII TYAFMVLVTM
   481  VMRLISASGE VVPMSFALVL GWCNVMYFAR GFQMLGPFTI MIQKMIFGDL MRFCWLMAVV
   541  ILGFASAFYI IFQTEDPEEL GHFYDYPMAL FSTFELFLTI IDGPANYNVD LPFMYSITYA
   601  AFAIIATLLM LNLLIAMMGD THWRVAHERD ELWRAQIVAT TVMLERKLPR CLWPRSGICG
   661  REYGLGDRWF LRVEDRQDLN RQRIQRYAQA FHTRGSEDLD KDSVEKLELG CPFSPHLSLP
   721  MPSVSRSTSR SSANWERLRQ GTLRRDLRGI INRGLEDGES WEYQI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRPV6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 6
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 65 nTPM

Expression across tissuesHPA

Tissue

salivary gland: 65 nTPM
pancreas: 36 nTPM
prostate: 22 nTPM
placenta: 11 nTPM
gallbladder: 7.7 nTPM
duodenum: 7.6 nTPM

Single-cell type

renal connecting tubule cells: 34 nCPM
renal collecting duct principal cells: 28 nCPM
papillary tip epithelial cells: 20 nCPM
prostatic glandular cells: 18 nCPM
pancreatic duct cells: 18 nCPM
late spermatids: 16 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

pons: 0.5 nTPM
cerebral cortex: 0.2 nTPM
choroid plexus: 0.2 nTPM
medulla oblongata: 0.2 nTPM
white matter: 0.2 nTPM
basal ganglia: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRPV6.

Disease | AllUniProt

Conditions TRPV6 is implicated in, by any mechanism.

Hyperparathyroidism, transient neonatal (HRPTTN) MIM:618188

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 402 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hyperparathyroidism, transient neonatal
Slender long bone
Hyperparathyroidism
Embryonic calcium dysregulation
Metaphyseal fractures

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.67
gnomAD pLI: 0
gnomAD missense Z: 1.38
DepMap mean gene effect: 0
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Ankyrin repeat
Ion transport domain
Transient receptor potential cation channel subfamily V member 5/6
Transient receptor potential cation channel subfamily V
Ankyrin repeat-containing domain superfamily
Ankyrin repeat
Ion transport protein
Ankyrin repeats (3 copies)
Transient receptor potential cation channel subfamily V member 6

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TRPV6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TRPV6 as an antibody target. Whether an autoantibody or antibody against TRPV6 could matter depends on whether native TRPV6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TRPV6 is annotated at the cell surface, where native TRPV6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TRPV6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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