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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
  • 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 cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010]

GeneCards Summary for BRWD3 Gene

BRWD3 (Bromodomain And WD Repeat Domain Containing 3) is a Protein Coding gene. Diseases associated with BRWD3 include tenorio syndrome and chronic lymphocytic leukemia. An important paralog of this gene is PHIP.

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

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

Genomics for BRWD3 Gene

Regulatory Elements for BRWD3 Gene

Promoters for BRWD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BRWD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for BRWD3 Gene

Chromosome:
X
Start:
80,669,488 bp from pter
End:
80,809,734 bp from pter
Size:
140,247 bases
Orientation:
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:
    Q6RI45-BRWD3_HUMAN
    Recommended name:
    Bromodomain and WD repeat-containing protein 3
    Protein Accession:
    Q6RI45
    Secondary Accessions:
    • C9IZ39
    • C9J3F3
    • Q2T9J6
    • Q5JRN1
    • Q6RI37
    • Q6RI42
    • Q6RI44
    • Q8N916

    Protein attributes for BRWD3 Gene

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

    Alternative splice isoforms for BRWD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRWD3 Gene

Proteomics data for BRWD3 Gene at MOPED

Post-translational modifications for BRWD3 Gene

  • Ubiquitination at Lys 987
  • Modification sites at PhosphoSitePlus

Other Protein References for BRWD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BRWD3 Gene

Domains & Families for BRWD3 Gene

Protein Domains for BRWD3 Gene

Suggested Antigen Peptide Sequences for BRWD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6RI45

UniProtKB/Swiss-Prot:

BRWD3_HUMAN :
  • Contains 2 bromo domains.
  • Contains 9 WD repeats.
Domain:
  • Contains 2 bromo domains.
Similarity:
  • Contains 9 WD repeats.
genes like me logo Genes that share domains with BRWD3: view

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 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

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

COMPARTMENTS
Jensen Localization Image for BRWD3 Gene COMPARTMENTS Subcellular localization image for BRWD3 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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: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:

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
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for BRWD3 Gene

GeneLoc Exon Structure for
BRWD3
ECgene alternative splicing isoforms for
BRWD3

Expression for BRWD3 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for BRWD3 Gene



SOURCE GeneReport for Unigene cluster for BRWD3 Gene Hs.147027

mRNA Expression by UniProt/SwissProt for BRWD3 Gene

Q6RI45-BRWD3_HUMAN
Tissue specificity: Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.
genes like me logo Genes that share expression patterns with BRWD3: view

Protein tissue co-expression partners for BRWD3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal 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
chimpanzee
(Pan troglodytes)
Mammalia BRWD3 35
  • 97.95 (n)
  • 97.2 (a)
BRWD3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BRWD3 36
  • 96 (a)
OneToOne
BRWD3 35
  • 94.02 (n)
  • 96.17 (a)
dog
(Canis familiaris)
Mammalia BRWD3 35
  • 94.85 (n)
  • 96.89 (a)
BRWD3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brwd3 16
Brwd3 35
  • 90.99 (n)
  • 94.83 (a)
Brwd3 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BRWD3 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRWD3 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brwd3 35
  • 90.95 (n)
  • 94.54 (a)
chicken
(Gallus gallus)
Aves BRWD3 35
  • 80.03 (n)
  • 82.87 (a)
BRWD3 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRWD3 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brwd3 35
  • 70.77 (n)
  • 73.55 (a)
zebrafish
(Danio rerio)
Actinopterygii brwd3 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BRWD3 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for BRWD3:
  • 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

ENSEMBL:
Gene Tree for BRWD3 (if available)
TreeFam:
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
rs3122407 - 80,688,070(+) TCACC(C/T)TTCTT nc-transcript-variant, reference, missense
VAR_036940 Mental retardation, X-linked 93 (MRX93)
rs2089956 -- 80,694,675(+) tgccc(C/T)gctgg intron-variant
rs2137444 -- 80,734,682(-) AGAAC(C/T)TAAAA intron-variant
rs3132159 -- 80,800,465(+) AGCCC(A/G)GGAGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv524776 CNV Gain 19592680
esv2740256 CNV Deletion 23290073
esv7232 CNV Loss 19470904
esv33127 CNV Loss 17666407
nsv528109 CNV Gain 19592680
esv2659332 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
BRWD3
Human Gene Mutation Database (HGMD)
BRWD3

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

Disorders for BRWD3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for BRWD3 Gene - From: GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
tenorio syndrome
  • overgrowth, macrocephaly, and intellectual disability syndrome
chronic lymphocytic leukemia
  • cll
x-linked nonsyndromic deafness
  • x-linked deafness
mental retardation, autosomal recessive 48
  • mrt48
hereditary persistence of alpha-fetoprotein
  • alpha-fetoprotein, hereditary persistence
- elite association - COSMIC cancer census association via MalaCards
Search BRWD3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BRWD3_HUMAN
  • 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.
  • 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.

Relevant External Links for BRWD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRWD3
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 67
  2. Identification of JAK/STAT signalling components by genome-wide RNA interference. (PMID: 16094372) MA1ller P. … Boutros M. (Nature 2005) 2 3 23
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly. (PMID: 24462886) Grotto S. … Saugier-Veber P. (Eur J Med Genet 2014) 3
  5. Comparative profiling of plasma proteome from breast cancer patients reveals thrombospondin-1 and BRWD3 as serological biomarkers. (PMID: 22024541) Suh E.J. … Lee C. (Exp. Mol. Med. 2012) 3

Products for BRWD3 Gene

Sources for BRWD3 Gene

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