Bromodomain and WD repeat-containing protein 3

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)
End	80,809,877 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	107,877,978 bp
RNA expression pattern
	Top expressed in
	tendon of biceps brachii; ; pancreatic epithelial cell; ; Achilles tendon; ; epithelium of colon; ; sural nerve; ; bone marrow cell; ; 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
	; ; ; ;
	More reference expression data
Orthologs
	254065
	382236
	ENSG00000165288
	ENSMUSG00000063663
	Q6RI45
	A2AHJ4
	NM_153252
	NM_001081477
	NP_694984
	NP_001074946
	Wikidata
View/Edit Human	View/Edit Mouse

Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.⁵⁶⁷

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.⁷

Clinical significance

Mutations in this gene can cause intellectual disability or permanent paralysis X-linked type 93, which is also referred to as intellectual disability X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia.⁷

References

GRCh38: Ensembl release 89: ENSG00000165288 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000063663 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"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.

Function

Clinical significance

References

External links

Further reading