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BRWD3
Identifiers
Aliases	BRWD3, BRODL, MRX93, bromodomain and WD repeat domain containing 3, XLID93
External IDs	OMIM: 300553; MGI: 3029414; HomoloGene: 18736; GeneCards: BRWD3; OMA:BRWD3 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq21.1 Start 80,669,503 bp End 80,809,877 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X D Start 107,780,622 bp End 107,877,978 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii pancreatic epithelial cell Achilles tendon epithelium of colon sural nerve bone marrow cells internal globus pallidus pancreatic ductal cell buccal mucosa cell sperm Top expressed in tail of embryo genital tubercle utricle Epithelium of choroid plexus secondary oocyte zygote umbilical cord pineal gland left lung lobe primary oocyte More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 254065 382236 Ensembl ENSG00000165288 ENSMUSG00000063663 UniProt Q6RI45 A2AHJ4 RefSeq (mRNA) NM_153252 NM_001081477 RefSeq (protein) NP_694984 NP_001074946 Location (UCSC) Chr X: 80.67 – 80.81 Mb Chr X: 107.78 – 107.88 Mb PubMed search
Wikidata
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Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.

Function

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.

Clinical significance

Mutations in this gene can cause mental retardation or permanent paralysis 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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000165288 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000063663 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dohner H, Stilgenbauer S, Lichter P (Dec 2004). "Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes". Genes Chromosomes Cancer. 42 (2): 128–43. doi:10.1002/gcc.20131. PMID 15543602. S2CID 29497580.
6. Muller P, Kuttenkeuler D, Gesellchen V, Zeidler MP, Boutros M (Aug 2005). "Identification of JAK/STAT signalling components by genome-wide RNA interference". Nature. 436 (7052): 871–5. Bibcode:2005Natur.436..871M. doi:10.1038/nature03869. hdl:11858/00-001M-0000-0012-E868-C. PMID 16094372. S2CID 4429398.
7. ^ "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3".

External links

• Human BRWD3 genome location and BRWD3 gene details page in the UCSC Genome Browser.

Further reading

• Field M, Tarpey PS, Smith R, et al. (2007). "Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly". Am. J. Hum. Genet. 81 (2): 367–74. doi:10.1086/520677. PMC 1950797. PMID 17668385.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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