2. Gene
  3. BRWD3 - bromodomain and WD repeat domain containing 3 Gene

BRWD3 - bromodomain and WD repeat domain containing 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含溴结构域和 WD 重复结构域 3

种属: Homo sapiens

同用名: BRODL; MRX93; XLID93

基因 ID: 254065 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质包含一个溴结构域和几个 WD 重复序列。它被认为具有染色质修饰功能，因此可能在转录中发挥作用。该基因的突变与一系列认知障碍和 X 连锁巨头畸形有关。该基因还与 B 细胞慢性淋巴细胞白血病患者的易位有关。[RefSeq 提供，2017 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_153252.5 NP_694984.5 bromodomain and WD repeat-containing protein 3
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cytoskeleton organization IMP
IMP: 通过突变表型推断
21834987 GOA
involved in regulation of cell shape IMP
IMP: 通过突变表型推断
21834987 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BRWD3 蛋白结构

WD40

WD40: WD domain, G-beta repeat (176 - 207)

WD40

WD40: WD domain, G-beta repeat (213 - 249)

WD40

WD40: WD domain, G-beta repeat (256 - 295)

WD40

WD40: WD domain, G-beta repeat (354 - 391)

WD40

WD40: WD domain, G-beta repeat (455 - 494)

Bromodomain

Bromodomain: Bromodomain (1154 - 1232)

Bromodomain

Bromodomain: Bromodomain (1359 - 1415)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1802 a.a.
蛋白主名 其他名称

bromodomain and WD repeat-containing protein 3

bromo domain-containing protein disrupted in leukemia

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01640 BRWD3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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