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TMEM163

Chr 2q21.3

transmembrane protein 163

Aliases:
DKFZP566N034, SV31, SLC30A11
MANE:
ENST00000281924.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • leukodystrophy, hypomyelinating, 25

    0.55
  • primary biliary cholangitis

    0.43
  • Parkinson disease

    0.43
  • hair color

    0.42
  • mathematical ability

    0.38
  • placenta praevia

    0.29
  • COVID-19

    0.29
  • spermatogenic failure

    0.29
  • attention deficit-hyperactivity disorder

    0.29
  • substance abuse

    0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transmembrane protein 163

Zinc ion transporter that mediates zinc efflux and plays a crucial role in intracellular zinc homeostasis (PubMed:25130899, PubMed:31697912, PubMed:36204728). Binds the divalent cations Zn(2+), Ni(2+), and to a minor extent Cu(2+) (By similarity). Is a functional modulator of P2X purinoceptors, including P2RX1, P2RX3, P2RX4 and P2RX7 (PubMed:32492420). Plays a role in central nervous system development and is required for myelination, and survival and proliferation of oligodendrocytes (PubMed:35455965)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.