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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BCAS3
BCAS3 microtubule associated cell migration factor
Chromosome 17 Β· 17q23.2
NCBI Gene: 54828Ensembl: ENSG00000141376.24HGNC: HGNC:14347UniProt: Q05D99
67PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIcellular response to estrogen stimuluscytoplasmphagophore assembly siteHengel-Maroofian-Schols syndromegoutGlobal developmental delayhypertension
✦AI Summary

BCAS3 (BCAS3 microtubule associated cell migration factor) is a multifunctional protein with roles in cell migration, transcriptional regulation, and autophagy. Primary function: BCAS3 regulates endothelial cell migration and angiogenesis by mediating CDC42 activation and actin cytoskeleton reorganization at the cell leading edge 1. Mechanism: BCAS3 functions as a transcriptional coactivator of estrogen receptor-responsive genes with histone acetyltransferase activity [UniProt]. Critically, BCAS3 associates with the phagophore assembly site during autophagy through its WD40 repeat domain, which directly binds phosphatidylinositol-3-phosphate, and forms a complex with C16orf70 to regulate autophagosome formation 2. BCAS3 is required for autophagy as a scaffold protein that recruits core autophagy machinery 3. Disease relevance: Mutations in BCAS3 cause neurodevelopmental deficits including microcephaly, developmental delay, and motor dysfunction, with increased neuronal apoptosis as a pathological mechanism 4. BCAS3 is amplified in breast cancer at 17q23 5 and overexpressed in glioblastoma, where it restrains p53/GADD45Ξ± signaling to promote tumorigenesis 6. Rare coding variants in BCAS3 are associated with cognitive function variation in adults 7. Clinical significance: BCAS3 serves as both a potential therapeutic target and biomarker in malignancies and neurodevelopmental disorders.

Sources cited
1
BCAS3 associates with phagophore assembly site and binds phosphatidylinositol-3-phosphate through WD40 domain to regulate autophagy
PMID: 33499712
2
bcas3 knockout causes neurodevelopmental defects, microcephaly, developmental delay, motor dysfunction, and increased apoptosis in zebrafish
PMID: 40481608
3
BCAS3 acts as autophagy scaffold binding WIPI2 to recruit and assemble conjugation system at phagophore
PMID: 38869949
4
BCAS3 rare coding variants are associated with adult cognitive function
PMID: 37231097
5
BCAS3 is expressed in embryonic stem cells, vascular precursors, and aberrantly expressed in brain tumors
PMID: 18030336
6
BCAS3 is upregulated in glioblastoma and promotes tumorigenesis by restraining p53/GADD45Ξ± signaling
PMID: 35659972
7
BCAS3 at 17q23 undergoes amplification, overexpression, and fusion in breast cancer
PMID: 12378525
Disease Associationsβ“˜21
Hengel-Maroofian-Schols syndromeOpen Targets
0.71Strong
goutOpen Targets
0.46Moderate
Global developmental delayOpen Targets
0.41Moderate
hypertensionOpen Targets
0.40Moderate
coronary artery diseaseOpen Targets
0.40Weak
anemiaOpen Targets
0.39Weak
glaucomaOpen Targets
0.38Weak
open-angle glaucomaOpen Targets
0.38Weak
cystic kidney diseaseOpen Targets
0.38Weak
nephrolithiasisOpen Targets
0.35Weak
multinodular goiterOpen Targets
0.35Weak
Abnormality of the urinary systemOpen Targets
0.35Weak
essential hypertensionOpen Targets
0.34Weak
urolithiasisOpen Targets
0.34Weak
Toxic Nodular GoiterOpen Targets
0.33Weak
bladder calculusOpen Targets
0.32Weak
ureterolithiasisOpen Targets
0.31Weak
facial morphologyOpen Targets
0.30Weak
disease of genitourinary systemOpen Targets
0.30Weak
response to xenobiotic stimulusOpen Targets
0.29Weak
Hengel-Maroofian-Schols syndromeUniProt
Pathogenic Variants15
NM_017679.5(BCAS3):c.2425G>T (p.Gly809Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 809
NM_017679.5(BCAS3):c.1630C>T (p.Arg544Ter)Likely pathogenic
Hengel-Maroofian-Schols syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 544
NM_017679.5(BCAS3):c.1906C>T (p.Arg636Ter)Pathogenic
Hengel-Maroofian-Schols syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 636
NM_017679.5(BCAS3):c.386T>A (p.Leu129Ter)Likely pathogenic
Hengel-Maroofian-Schols syndrome
β˜…β˜†β˜†β˜†β†’ Residue 129
NM_017679.5(BCAS3):c.73C>T (p.Gln25Ter)Pathogenic
Global developmental delay|Hengel-Maroofian-Schols syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 25
NM_017679.5(BCAS3):c.726T>G (p.Tyr242Ter)Pathogenic
Global developmental delay|Hengel-Maroofian-Schols syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 242
NM_017679.5(BCAS3):c.1457C>G (p.Ser486Ter)Pathogenic
Global developmental delay|Hengel-Maroofian-Schols syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 486
NM_017679.5(BCAS3):c.1655C>T (p.Pro552Leu)Pathogenic
Global developmental delay|Hengel-Maroofian-Schols syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 552
NM_017679.5(BCAS3):c.1684G>A (p.Gly562Arg)Pathogenic
Global developmental delay|Hengel-Maroofian-Schols syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 562
NM_017679.5(BCAS3):c.530del (p.Met177fs)Likely pathogenic
Global developmental delay
β˜†β˜†β˜†β˜†2021β†’ Residue 177
NM_017679.5(BCAS3):c.337C>T (p.Gln113Ter)Likely pathogenic
Global developmental delay
β˜†β˜†β˜†β˜†2021β†’ Residue 113
NM_017679.5(BCAS3):c.576C>A (p.Cys192Ter)Likely pathogenic
Global developmental delay
β˜†β˜†β˜†β˜†2021β†’ Residue 192
NM_017679.5(BCAS3):c.2182C>T (p.Gln728Ter)Likely pathogenic
Global developmental delay
β˜†β˜†β˜†β˜†2021β†’ Residue 728
NM_017679.5(BCAS3):c.1133del (p.Val378fs)Likely pathogenic
Global developmental delay
β˜†β˜†β˜†β˜†2021β†’ Residue 378
NM_017679.5(BCAS3):c.2425G>C (p.Gly809Arg)Likely pathogenic
Global developmental delay
β˜†β˜†β˜†β˜†2021β†’ Residue 809
View on ClinVar β†—
Related Genes
BCAS4Protein interaction98%WIPI2Protein interaction88%MTA1Protein interaction70%TBC1D5Shared pathway17%WBP2Shared pathway15%NCOA4Shared pathway13%
Tissue Expression6 tissues
Brain
100%
Lung
54%
Heart
41%
Liver
39%
Ovary
34%
Bone Marrow
27%
Gene Interaction Network
Click a node to explore
BCAS3BCAS4WIPI2MTA1TBC1D5WBP2NCOA4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q05D99
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.58Moderately Constrained
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.44 [0.34–0.58]
RankingsWhere BCAS3 stands among ~20K protein-coding genes
  • #6,965of 20,598
    Most Researched67
  • #2,457of 5,498
    Most Pathogenic Variants15
  • #3,871of 17,882
    Most Constrained (LOEUF)0.58 Β· top quartile
Genes detectedBCAS3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals.
PMID: 38869949
J Clin Invest Β· 2024
1.00
2
The impact of rare protein coding genetic variation on adult cognitive function.
PMID: 37231097
Nat Genet Β· 2023
0.90
3
Knockout of bcas3 gene causes neurodevelopment defects in zebrafish.
PMID: 40481608
Biol Res Β· 2025
0.80
4
Exploring the Expression of BCAS3 in Head and Neck Squamous Cell Carcinoma and Its Association With Prognosis.
PMID: 38259392
Cureus Β· 2023
0.70
5
Human BCAS3 expression in embryonic stem cells and vascular precursors suggests a role in human embryogenesis and tumor angiogenesis.
PMID: 18030336
PLoS One Β· 2007
0.60