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    BRWD3 bromodomain and WD repeat domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 254065, updated on 5-Mar-2024

    Summary

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    Official Symbol
    BRWD3provided by HGNC
    Official Full Name
    bromodomain and WD repeat domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:17342
    See related
    Ensembl:ENSG00000165288 MIM:300553; AllianceGenome:HGNC:17342
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRODL; MRX93; XLID93
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq21.1
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (80669503..80809877, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (79103281..79243651, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (79925002..80065376, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene WBP11 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:79845911-79846864 Neighboring gene hexokinase 2 pseudogene 1 Neighboring gene PSMA1 pseudogene 1 Neighboring gene uncharacterized LOC124905202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29790 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:80071275-80072023 Neighboring gene small nucleolar RNA ACA64 Neighboring gene RNA, U6 small nuclear 493, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability. Tian MQ, et al. CNS Neurosci Ther, 2023 Feb. PMID 36514184, Free PMC Article
    2. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway. Delanne J, et al. Eur J Med Genet, 2023 Jan. PMID 36414205
    3. MRX93 syndrome (BRWD3 gene): five new patients with novel mutations. Tenorio J, et al. Clin Genet, 2019 Jun. PMID 30628072
    4. Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly. Grotto S, et al. Eur J Med Genet, 2014 Apr. PMID 24462886
    5. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Field M, et al. Am J Hum Genet, 2007 Aug. PMID 17668385, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability.
      Title: Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability.
    2. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
      Title: Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
    3. BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases. These genes are all involved in translocations in B-cell malignancies. Moreover, we detected a significant difference in mutation frequency of TP53 and IRF4 with frequencies higher among CA cases. Our study provides rationale for interrogating diverse tumor cohorts to best understand tumor genomics across populations.
      Title: Comprehensive molecular profiling of 718 Multiple Myelomas reveals significant differences in mutation frequencies between African and European descent cases.
    4. A nonsense mutation in BRWD3 in a family with X-linked intellectual disability associated with macrocephaly.
      Title: Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
    5. potential serological biomarker of breast cancer
      Title: Comparative profiling of plasma proteome from breast cancer patients reveals thrombospondin-1 and BRWD3 as serological biomarkers.
    6. Includes the identification of truncating mutations in this gene that segregated with mental retardation in the families tested.
      Title: A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
    7. BRWD3 is therefore a new gene implicated in the etiology of XLMR associated with macrocephaly and may cause disease by altering intracellular signaling pathways affecting cellular proliferation.
      Title: Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual disability, X-linked 93
    MedGen: C1970841 OMIM: 300659 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-08-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-08-24)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33254, FLJ38568

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    bromodomain and WD repeat-containing protein 3
    Names
    bromo domain-containing protein disrupted in leukemia
    novel WD repeat domain protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021349.2 RefSeqGene

      Range
      5000..145374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_153252.5 → NP_694984.5  bromodomain and WD repeat-containing protein 3

      Status: REVIEWED

      Source sequence(s)
      AL512504, AL590031, AL669934
      Consensus CDS
      CCDS14447.1
      UniProtKB/Swiss-Prot
      C9IZ39, C9J3F3, Q2T9J6, Q5JRN1, Q6RI37, Q6RI42, Q6RI44, Q6RI45, Q8N916
      Related
      ENSP00000362372.4, ENST00000373275.5
      Conserved Domains (4) summary
      cd05529
      Location:1130 → 1242
      Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      cd00200
      Location:172 → 494
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:183 → 220
      7WD40; WD40 repeat [structural motif]
      cl02556
      Location:1301 → 1442
      Bromodomain; Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      80669503..80809877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262113.4 → XP_005262170.1  bromodomain and WD repeat-containing protein 3 isoform X1

      Conserved Domains (5) summary
      cd05529
      Location:1080 → 1192
      Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      COG2319
      Location:175 → 540
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:172 → 494
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:183 → 220
      7WD40; WD40 repeat [structural motif]
      cl02556
      Location:1251 → 1392
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.

    2. XM_017029384.2 → XP_016884873.1  bromodomain and WD repeat-containing protein 3 isoform X2

      UniProtKB/Swiss-Prot
      Q6RI45
      Conserved Domains (5) summary
      cd05529
      Location:726 → 838
      Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      COG2319
      Location:22 → 136
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:23 → 58
      7WD40; WD40 repeat [structural motif]
      cl02556
      Location:897 → 1038
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
      cl02567
      Location:22 → 133
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_047441957.1 → XP_047297913.1  bromodomain and WD repeat-containing protein 3 isoform X3

    4. XM_017029385.3 → XP_016884874.1  bromodomain and WD repeat-containing protein 3 isoform X4

      Conserved Domains (2) summary
      cd00200
      Location:172 → 494
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:183 → 220
      7WD40; WD40 repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      79103281..79243651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326752.1 → XP_054182727.1  bromodomain and WD repeat-containing protein 3 isoform X1

    2. XM_054326753.1 → XP_054182728.1  bromodomain and WD repeat-containing protein 3 isoform X2

    3. XM_054326754.1 → XP_054182729.1  bromodomain and WD repeat-containing protein 3 isoform X3

    4. XM_054326755.1 → XP_054182730.1  bromodomain and WD repeat-containing protein 3 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6RI45.2 GenPept UniProtKB/Swiss-Prot:Q6RI45

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