BCAS3 Gene

HGNC Family	WD repeat domain containing (WDR)
Name	breast carcinoma amplified sequence 3
Description	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, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n BCAS3 is a multifunctional gene originally identified as amplified in breast cancer and now emerging as a pivotal regulator in diverse biological contexts. In tumor cells, BCAS3 functions as a transcriptional coactivator that enhances estrogen receptor–mediated gene expression. Mechanistically, it is recruited by coregulators such as MTA1 and PELP1, promoting transcriptional activation through direct interactions with histone modifiers and contributing to oncogenic processes including increased cell proliferation, reduced apoptosis, and chemoresistance—partly by facilitating p53 degradation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its role in cancer, BCAS3 is highly conserved evolutionarily—as illustrated by its murine homolog rudhira—which is robustly expressed in embryonic stem cells and during the differentiation of vascular and erythroid lineages, implicating it in angiogenesis and early developmental processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Aberrant expression of BCAS3 in various tumor types, including malignant brain lesions, further underscores its broad involvement in tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, BCAS3 may have roles outside the canonical cancer pathways. Genetic studies have implicated BCAS3 in kidney function, potentially by influencing solute production and secretion"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ", and epigenetic analyses have linked differential methylation at the BCAS3 locus to obesity risk in carriers of the FTO risk allele."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Furthermore, associations between BCAS3 variants and gout susceptibility have been documented."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings indicate that BCAS3 is a critical modulator of transcriptional activity with significant impacts on cellular growth, differentiation, and metabolism under both physiological and pathological conditions.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Anupama E Gururaj, Rajesh R Singh, Suresh K Rayala, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MTA1, a transcriptional activator of breast cancer amplified sequence 3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0601989103"}], "href": "https://doi.org/10.1073/pnas.0601989103"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16617102"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16617102"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Maarit Bärlund, Outi Monni, J Donald Weaver, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Chromosomes Cancer (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/gcc.10121"}], "href": "https://doi.org/10.1002/gcc.10121"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12378525"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12378525"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Anupama E Gururaj, Shaohua Peng, Ratna K Vadlamudi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Estrogen induces expression of BCAS3, a novel estrogen receptor-alpha coactivator, through proline-, glutamic acid-, and leucine-rich protein-1 (PELP1)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Endocrinol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/me.2006-0514"}], "href": "https://doi.org/10.1210/me.2006-0514"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17505058"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17505058"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Zhe Zhou, Rongfang Qiu, Wei Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BCAS3 exhibits oncogenic properties by promoting CRL4A-mediated ubiquitination of p53 in breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Prolif (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cpr.13088"}], "href": "https://doi.org/10.1111/cpr.13088"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34240781"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34240781"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kavitha Siva, Maneesha S Inamdar "}, {"type": "b", "children": [{"type": "t", "text": "Rudhira is a cytoplasmic WD40 protein expressed in mouse embryonic stem cells and during embryonic erythropoiesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene Expr Patterns (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.modgep.2005.06.002"}], "href": "https://doi.org/10.1016/j.modgep.2005.06.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16099728"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16099728"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Kavitha Siva, Parvathy Venu, Anita Mahadevan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human BCAS3 expression in embryonic stem cells and vascular precursors suggests a role in human embryogenesis and tumor angiogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0001202"}], "href": "https://doi.org/10.1371/journal.pone.0001202"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18030336"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18030336"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Anna Köttgen, Cristian Pattaro, Carsten A Böger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "New loci associated with kidney function and chronic kidney disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.568"}], "href": "https://doi.org/10.1038/ng.568"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20383146"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20383146"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Markus Sällman Almén, Josefin A Jacobsson, George Moschonis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome wide analysis reveals association of a FTO gene variant with epigenetic changes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ygeno.2011.12.007"}], "href": "https://doi.org/10.1016/j.ygeno.2011.12.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22234326"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22234326"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Masayuki Sakiyama, Hirotaka Matsuo, Hirofumi Nakaoka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12881-018-0583-z"}], "href": "https://doi.org/10.1186/s12881-018-0583-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29879923"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29879923"}]}]}]}
Synonyms	MAAB, GAOB1
Proteins	BCAS3_HUMAN
NCBI Gene ID	54828
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

BCAS3 has 9,498 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 119 datasets.

Click the + buttons to view associations for BCAS3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

BCAS3 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BCAS3 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of BCAS3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of BCAS3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of BCAS3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of BCAS3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BCAS3 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of BCAS3 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BCAS3 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BCAS3 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of BCAS3 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of BCAS3 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of BCAS3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with BCAS3 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with BCAS3 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BCAS3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of BCAS3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of BCAS3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing BCAS3 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of BCAS3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing BCAS3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing BCAS3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with BCAS3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with BCAS3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of BCAS3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with BCAS3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with BCAS3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with BCAS3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with BCAS3 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of BCAS3 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by BCAS3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving BCAS3 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving BCAS3 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with BCAS3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with BCAS3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with BCAS3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with BCAS3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with BCAS3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with BCAS3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at BCAS3 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BCAS3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.