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CD164

Chr 6q21

CD164 molecule

Aliases:
MUC-24, MGC-24, DFNA66, MGC-24v
MANE:
ENST00000310786.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Monogenic hearing loss

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • clonal hematopoiesis

    0.45
  • autosomal dominant nonsyndromic hearing loss

    0.42
  • Abnormal central motor function

    0.37
  • Alzheimer disease

    0.28
  • intelligence

    0.25
  • schizophrenia

    0.25
  • Abnormality of the skeletal system

    0.20
  • atrial fibrillation

    0.18
  • lung carcinoma

    0.15
  • aging

    0.14

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

Protein function (UniProt)

Sialomucin core protein 24

Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (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.