BCAS3 Chromosome 17
BCAS3 microtubule associated cell migration factor
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What This Gene Does
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]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
17q23.2
Ensembl
ENSG00000141376
Associated Conditions (2)
Global developmental delay
Hengel-Maroofian-Schols syndrome
Key Variants
RS2143487816
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS2143538802
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS2144260660
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS2144887794
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS2145247321
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS2544663258
Likely pathogenic
Hengel-Maroofian-Schols syndrome, Hengel-Maroofian-Schols syndrome
Health Risk
RS761069193
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS769939544
Pathogenic
Hengel-Maroofian-Schols syndrome, Hengel-Maroofian-Schols syndrome
Health Risk
RS2143782841
Pathogenic/Likely pathogenic
Global developmental delay, Hengel-Maroofian-Schols syndrome, Global developmental delay
Health Risk
RS2145000036
Pathogenic/Likely pathogenic
Global developmental delay, Hengel-Maroofian-Schols syndrome, Global developmental delay
Health Risk
RS2145432917
Pathogenic/Likely pathogenic
Global developmental delay, Hengel-Maroofian-Schols syndrome, Global developmental delay
Health Risk
RS754857276
Pathogenic/Likely pathogenic
Global developmental delay, Hengel-Maroofian-Schols syndrome, Global developmental delay
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143487816 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2143538802 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2144260660 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2144887794 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2145247321 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2544663258 | Health Risk | Likely pathogenic | Hengel-Maroofian-Schols syndrome, Hengel-Maroofian-Schols syndrome |
| RS761069193 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS769939544 | Health Risk | Pathogenic | Hengel-Maroofian-Schols syndrome, Hengel-Maroofian-Schols syndrome |
| RS2143782841 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Hengel-Maroofian-Schols syndrome, Global developmental delay |
| RS2145000036 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Hengel-Maroofian-Schols syndrome, Global developmental delay |
| RS2145432917 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Hengel-Maroofian-Schols syndrome, Global developmental delay |
| RS754857276 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Hengel-Maroofian-Schols syndrome, Global developmental delay |
| RS772813265 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Hengel-Maroofian-Schols syndrome, Global developmental delay |