BCAS3

Chr 17

BCAS3 microtubule associated cell migration factor

Also known as: GAOB1, HEMARS, MAAB, PHAF2

NCBI Gene: 54828 ENSG00000141376 UniProt: Q9H6U6

BCAS3 encodes a protein that regulates cell polarity and directional migration through CDC42 activation and actin cytoskeleton reorganization, functions as a transcriptional coactivator for estrogen-responsive genes, and plays a regulatory role in autophagy. Mutations cause Hengel-Maroofian-Schols syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.467), indicating that complete loss of protein function is likely detrimental.

ResearchSummary from RefSeq, UniProt

Enables several functions, including acetyltransferase activator activity; beta-tubulin binding activity; and histone acetyltransferase binding activity. Involved in cellular response to estrogen stimulus; positive regulation of catalytic activity; and positive regulation of transcription by RNA polymerase II. Located in euchromatin; nucleus; and phagophore assembly site. Implicated in Hengel-Maroofian-Schols syndrome. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHengel-Maroofian-Schols syndrome

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

0.47

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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