CD164

Chr 6

CD164 molecule

Also known as: DFNA66, MGC-24, MGC-24v, MUC-24, endolyn

NCBI Gene: 8763 ENSG00000135535 UniProt: Q04900

The protein is a transmembrane sialomucin that regulates hematopoietic progenitor cell proliferation, adhesion and migration, and also promotes myoblast migration and fusion during muscle development. Mutations cause autosomal dominant deafness (DFNA66), though the association remains uncertain based on current evidence. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.613).

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal dominant, 66

Clinical highlights

Gene-disease validity (ClinGen)

autosomal dominant nonsyndromic hearing loss · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.61

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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