TMEM184B

Chr 22

transmembrane protein 184B

Also known as: C22orf5, FM08, HS5O6A, HSPC256, SLC51C2

NCBI Gene: 25829 ENSG00000198792 UniProt: Q9Y519

This gene encodes a predicted transmembrane transporter that may activate MAP kinase signaling pathways. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.514), but no definitive human disease associations have been established. Clinical significance of variants in TMEM184B remains uncertain pending further research.

ResearchSummary from RefSeq, UniProt

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.51

LOEUF

LOF*

Mechanism· G2P

Some data sources returned errors (1)

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