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

Gene ID: 254065, updated on 2-Nov-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
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Genomic context

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See BRWD3 in Genome Data Viewer
Location:
Xq21.1
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (80669503..80809877, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (79103281..79243651, complement)
RS_2024_09 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

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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
  2. 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
  3. 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
  4. MRX93 syndrome (BRWD3 gene): five new patients with novel mutations. Tenorio J, et al. Clin Genet, 2019 Jun. PMID 30628072
  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 (34) 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
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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_2024_08

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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