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TMC6

Chr 17q25.3

transmembrane channel like 6

Aliases:
LAK-4P, EVIN1
MANE:
ENST00000590602.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Epidermodysplasia verruciformis

    BIALLELIC, autosomal or pseudoautosomal
  • Pigmentary skin disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Multiple monogenic benign skin tumours

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • epidermodysplasia verruciformis

    0.75
  • hereditary disease

    0.19
  • response to xenobiotic stimulus

    0.15
  • hypertensive disorder

    0.15
  • Abnormality of the skeletal system

    0.09
  • type 2 diabetes mellitus

    0.08
  • diabetes mellitus

    0.08
  • homozygous familial hypercholesterolemia

    0.05
  • infection

    0.05
  • Hyperlipoproteinemia type 5

    0.05

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

Protein function (UniProt)

Transmembrane channel-like protein 6

Acts as a regulatory protein involved in the regulation of numerous cellular processes (PubMed:18158319, PubMed:30068544, PubMed:32917726). Together with its homolog TMC8/EVER2, forms a complex with CIB1 in lymphocytes and keratynocytes where TMC6 and TMC8 stabilize CIB1 and reciprocally (PubMed:30068544, PubMed:32917726). Together with TMC8, also forms a complex with and activates zinc transporter ZNT1 at the ER membrane of keratynocytes, thereby facilitating zinc uptake into the ER (PubMed:18158319). Down-regulates the activity of transcription factors induced by zinc and cytokines (PubMed:18158319). Also plays a role in thermal sensation by inhibiting the M-channel (KCNQ2-KCNQ3 channel) current in primary sensory neurons (By similarity)

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.