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

Summary

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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
potential serological biomarker of breast cancer
Title: Comparative profiling of plasma proteome from breast cancer patients reveals thrombospondin-1 and BRWD3 as serological biomarkers.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BRODL__4276 (e-PCR)
- UniSTS:468307

SHGC-152486 (e-PCR)
- UniSTS:177529

RH38736 (e-PCR)
- UniSTS:88705

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

NG_021349.2 RefSeqGene

Range

5000..145374

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

80669503..80809877 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060947.1 Alternate T2T-CHM13v2.0

Range

79103281..79243651 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326752.1 → XP_054182727.1 bromodomain and WD repeat-containing protein 3 isoform X1
XM_054326753.1 → XP_054182728.1 bromodomain and WD repeat-containing protein 3 isoform X2
XM_054326754.1 → XP_054182729.1 bromodomain and WD repeat-containing protein 3 isoform X3
XM_054326755.1 → XP_054182730.1 bromodomain and WD repeat-containing protein 3 isoform X4