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Aliases for BRWD3 Gene

Aliases for BRWD3 Gene

  • Bromodomain And WD Repeat Domain Containing 3 2 3 5
  • Bromo Domain-Containing Protein Disrupted In Leukemia 3
  • Bromodomain And WD Repeat-Containing Protein 3 3
  • Novel WD Repeat Domain Protein 3
  • BRODL 3
  • MRX93 3

External Ids for BRWD3 Gene

Previous GeneCards Identifiers for BRWD3 Gene

  • GC0XM079738
  • GC0XM079926
  • GC0XM073504

Summaries for BRWD3 Gene

Entrez Gene Summary for BRWD3 Gene

  • The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]

GeneCards Summary for BRWD3 Gene

BRWD3 (Bromodomain And WD Repeat Domain Containing 3) is a Protein Coding gene. Diseases associated with BRWD3 include Chronic Lymphocytic Leukemia and X-Linked Nonsyndromic Deafness. An important paralog of this gene is BRWD1.

UniProtKB/Swiss-Prot for BRWD3 Gene

  • Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

Gene Wiki entry for BRWD3 Gene

Additional gene information for BRWD3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRWD3 Gene

Genomics for BRWD3 Gene

Regulatory Elements for BRWD3 Gene

Enhancers for BRWD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH080806 1 ENCODE 21.6 +0.8 796 4.2 PKNOX1 SIN3A BRCA1 YY1 GLIS2 ELK1 ZNF143 FOS RUNX3 SP3 BRWD3 LOC100422286 GC0XP080710
GH0XH081200 0.8 ENCODE 12.9 -392.7 -392705 3 TBP TBL1XR1 TAL1 SIN3A ZNF384 BRCA1 YY1 RFX5 TCF12 NCOR1 BRWD3 HMGN5 GC0XP081328
GH0XH080709 0.3 FANTOM5 2 +99.8 99798 0.2 BRWD3 GC0XP080710
GH0XH080812 0.5 ENCODE 0.7 -2.6 -2643 0.2 CTCF RUNX3 SPI1 VDAC1P1 BRWD3 LOC105373283
GH0XH080764 0.6 ENCODE 0.3 +44.3 44339 1.6 JUND JUN USF2 CEBPB FOS EP300 BRCA1 BRWD3 GC0XP080710
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BRWD3 on UCSC Golden Path with GeneCards custom track

Promoters for BRWD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247400 534 3600 PKNOX1 SIN3A BRCA1 YY1 ELK1 ZNF143 RUNX3 SP3 NFYC NCOA1

Genomic Locations for BRWD3 Gene

Genomic Locations for BRWD3 Gene
140,247 bases
Minus strand

Genomic View for BRWD3 Gene

Genes around BRWD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRWD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRWD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRWD3 Gene

Proteins for BRWD3 Gene

  • Protein details for BRWD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Bromodomain and WD repeat-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • C9IZ39
    • C9J3F3
    • Q2T9J6
    • Q5JRN1
    • Q6RI37
    • Q6RI42
    • Q6RI44
    • Q8N916

    Protein attributes for BRWD3 Gene

    1802 amino acids
    Molecular mass:
    203598 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC04641.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for BRWD3 Gene


neXtProt entry for BRWD3 Gene

Post-translational modifications for BRWD3 Gene

  • Ubiquitination at Lys987
  • Modification sites at PhosphoSitePlus

Other Protein References for BRWD3 Gene

No data available for DME Specific Peptides for BRWD3 Gene

Domains & Families for BRWD3 Gene

Gene Families for BRWD3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BRWD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BRWD3: view

No data available for UniProtKB/Swiss-Prot for BRWD3 Gene

Function for BRWD3 Gene

Molecular function for BRWD3 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

Phenotypes From GWAS Catalog for BRWD3 Gene

Phenotypes for BRWD3 Gene

genes like me logo Genes that share phenotypes with BRWD3: view

Human Phenotype Ontology for BRWD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for BRWD3 Gene

Localization for BRWD3 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRWD3 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRWD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with BRWD3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BRWD3 Gene

Pathways & Interactions for BRWD3 Gene

SuperPathways for BRWD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BRWD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0007010 cytoskeleton organization IMP 21834987
GO:0008360 regulation of cell shape IMP 21834987
genes like me logo Genes that share ontologies with BRWD3: view

No data available for Pathways by source and SIGNOR curated interactions for BRWD3 Gene

Drugs & Compounds for BRWD3 Gene

No Compound Related Data Available

Transcripts for BRWD3 Gene

Unigene Clusters for BRWD3 Gene

Bromodomain and WD repeat domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BRWD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - -
SP9: - - - - - - -
SP10: - - - - - - -
SP11: - - -
SP12: - - -
SP13: - - - -
SP14: - - - - - -

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44

Relevant External Links for BRWD3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BRWD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BRWD3 Gene

Protein differential expression in normal tissues from HIPED for BRWD3 Gene

This gene is overexpressed in Breast (45.6) and Plasma (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRWD3 Gene

Protein tissue co-expression partners for BRWD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BRWD3 Gene:


SOURCE GeneReport for Unigene cluster for BRWD3 Gene:


mRNA Expression by UniProt/SwissProt for BRWD3 Gene:

Tissue specificity: Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.

Phenotype-based relationships between genes and organs from Gene ORGANizer for BRWD3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
  • testicle
  • foot
  • lower limb
genes like me logo Genes that share expression patterns with BRWD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Evidence on tissue expression from TISSUES for BRWD3 Gene

Orthologs for BRWD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for BRWD3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BRWD3 33 34
  • 97.95 (n)
(Canis familiaris)
Mammalia BRWD3 33 34
  • 94.85 (n)
(Bos Taurus)
Mammalia BRWD3 33 34
  • 94.02 (n)
(Mus musculus)
Mammalia Brwd3 33 16 34
  • 90.99 (n)
(Rattus norvegicus)
Mammalia Brwd3 33
  • 90.95 (n)
(Monodelphis domestica)
Mammalia BRWD3 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia BRWD3 34
  • 49 (a)
(Gallus gallus)
Aves BRWD3 33 34
  • 80.03 (n)
(Anolis carolinensis)
Reptilia BRWD3 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia brwd3 33
  • 70.77 (n)
(Danio rerio)
Actinopterygii brwd3 34
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta BRWD3 34
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
Species where no ortholog for BRWD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BRWD3 Gene

Gene Tree for BRWD3 (if available)
Gene Tree for BRWD3 (if available)

Paralogs for BRWD3 Gene

Paralogs for BRWD3 Gene

(4) SIMAP similar genes for BRWD3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BRWD3: view

Variants for BRWD3 Gene

Sequence variations from dbSNP and Humsavar for BRWD3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs137853272 Pathogenic, Mental retardation, X-linked 93 (MRX93) [MIM:300659] 80,677,232(-) AAACA(A/C/G)AAGAG downstream-variant-500B, reference, missense
rs1057518202 Pathogenic 80,704,797(-) TAAAT(-/AAAT)TTACA nc-transcript-variant, reference, utr-variant-3-prime, frameshift-variant
rs1057518650 Pathogenic 80,745,592(-) TTGAC(C/T)GAAGC nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs730882185 Pathogenic 80,692,088(-) AGGAA(G/T)TAAAT splice-donor-variant
rs730882186 Pathogenic 80,735,165(-) ATCCA(-/A)GACCT nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for BRWD3 Gene

Variant ID Type Subtype PubMed ID
nsv528109 CNV gain 19592680
nsv524776 CNV gain 19592680
nsv1115271 CNV deletion 24896259
esv7232 CNV loss 19470904
esv3576949 CNV gain 25503493
esv3574117 CNV loss 25503493
esv33127 CNV loss 17666407
esv2740256 CNV deletion 23290073
esv2659332 CNV deletion 23128226
dgv4259n106 CNV tandem duplication 24896259
dgv2322e212 CNV gain 25503493

Variation tolerance for BRWD3 Gene

Residual Variation Intolerance Score: 1.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRWD3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRWD3 Gene

Disorders for BRWD3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BRWD3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chronic lymphocytic leukemia
  • b-cell chronic lymphocytic leukemia
x-linked nonsyndromic deafness
  • x-linked deafness
west syndrome
  • epileptic encephalopathy, early infantile, 1
- elite association - COSMIC cancer census association via MalaCards
Search BRWD3 in MalaCards View complete list of genes associated with diseases


  • Mental retardation, X-linked 93 (MRX93) [MIM:300659]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX93 is associated with macrocephaly. {ECO:0000269 PubMed:17668385}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes.

Relevant External Links for BRWD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BRWD3: view

No data available for Genatlas for BRWD3 Gene

Publications for BRWD3 Gene

  1. Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes. (PMID: 15543602) Kalla C … Lichter P (Genes, chromosomes & cancer 2005) 2 3 4 60
  2. Identification of JAK/STAT signalling components by genome-wide RNA interference. (PMID: 16094372) Müller P … Boutros M (Nature 2005) 2 3 22 60
  3. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. (PMID: 21834987) Bai SW … Ridley AJ (BMC biology 2011) 3 4 60
  4. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. (PMID: 17668385) Field M … Raymond FL (American journal of human genetics 2007) 3 4 60
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 60

Products for BRWD3 Gene

Sources for BRWD3 Gene

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