Entity Details

Primary name BRWD3
Entity type gene
Source Source Link

Details

PrimaryID254065
RefseqGeneNG_021349
SymbolBRWD3
Namebromodomain and WD repeat domain containing 3
ChromosomeX
LocationXq21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-07-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsBRWD3_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007010 cytoskeleton organization
GO:0008360 regulation of cell shape

Diseases

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Disease IDSourceNameDescription
300659 OMIMMental retardation, X-linked 93 (MRX93)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX93 is associated with macrocephaly. The disease is caused by variants affecting the gene represented in this entry.