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BRWD3 - bromodomain and WD repeat domain containing 3 Gene

Also Known as BRODL; MRX93; XLID93

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 254065

About BRWD3

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:80,669,503-80,809,877 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 3.3) and 25 other tissues.

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]

BRWD3 Products (1)

mRNA	Protein	Name
NM_153252.5	NP_694984.5	bromodomain and WD repeat-containing protein 3

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	21834987	GOA
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	21834987	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BRWD3 Protein Structure

WD40

Bromodomain

0
300
600
900
1200
1500
1802 a.a.

Protein Preferred Names	Protein Names
bromodomain and WD repeat-containing protein 3	bromo domain-containing protein disrupted in leukemia

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked 93	XLID93 Mrx93 Mental Retardation, X-Linked, With Macrocephaly Mental Retardation, X-Linked 93
Non-Syndromic X-Linked Intellectual Disability 93	Mrx93 X-Linked Mental Retardation With Macrocephaly
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Non-Syndromic X-Linked Intellectual Disability 90	Mrx90
Simpson-Golabi-Behmel Syndrome, Type 1	Simpson-Golabi-Behmel Syndrome Type 1 Simpson-Golabi-Behmel Syndrome SGBS1 Golabi-Rosen Syndrome Simpson Dysmorphia Syndrome Sgbs Bulldog Syndrome Dgsx Sdys Dysplasia Gigantism Syndrome, X-Linked X-Linked Dysplasia Gigantism Syndrome Dgsx Golabi-Rosen Syndrome Sara Angers Syndrome Sgb Syndrome Mental Retardation-Overgrowth Syndrome Simpson Dysplasia Syndrome Simpson Syndrome Simpson-Golabi-Behmel Syndrome 1 Dysplasia Gigantism Syndrome X-Linked
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	Atr-X Syndrome Atr, Nondeletion Type Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Atrx Syndrome Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome Xlmr Hypotonic Face Syndrome Alpha Thalassemia X-Linked Intellectual Disability Syndrome Alpha Thalassemia X-Linked Mental Retardation Syndrome Alpha Thalassemia/Mental Retardation, X-Linked Alpha-Thalassemia X-Linked Mental Retardation Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type X-Linked Alpha-Thalassemia/Mental Retardation Syndrome Xlmr-Hypotonic Face Syndrome Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
Opitz-Kaveggia Syndrome	Fg Syndrome Fgs1 Fgs Keller Syndrome OKS Fg Syndrome 1 Fg Syndrome Type 1 Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
X-Linked Nonsyndromic Deafness	X-Linked Deafness Deafness, X-Linked
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01640	BRWD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BRWD3	VGNC	VGNC:26576
Mus musculus	BRWD3	MGD	MGI:3029414
Rattus norvegicus	BRWD3	RGD	RGD:1559445
Macaca mulatta	BRWD3	VGNC	VGNC:70337
Canis familiaris	BRWD3	VGNC	VGNC:38537
Felis catus	BRWD3	VGNC	VGNC:60186
Others	BRWD3	NCBI