GATAD2B - GATA zinc finger domain containing 2B Gene

中文名称：含 GATA 锌指结构域 2B

种属: Homo sapiens

同用名: p68; GANDS; MRD18; P66beta

基因 ID: 57459 | 基因类型: protein coding

关于 GATAD2B

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,804,725-153,922,972 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 226 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 8.8), spleen (RPKM 5.8) and 25 other tissues.

功能概要

该基因编码锌指蛋白转录抑制因子。编码的蛋白质是甲基-CpG-结合蛋白-1 复合物的一部分，它通过去乙酰化甲基化核小体来抑制基因表达。该基因的突变与智力障碍和与认知障碍相关的畸形特征有关。[RefSeq 提供，2016 年 6 月]

This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]

GATAD2B 基因产物(1)

mRNA	Protein	Name
NM_020699.4	NP_065750.1	transcriptional repressor p66-beta

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	24722188	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in chromatin remodeling	IDA IDA: 通过直接分析推断	9790534	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of NuRD complex	IDA IDA: 通过直接分析推断	33283408	GOA
located in chromosome, telomeric region	IDA IDA: 通过直接分析推断	25150861	GOA
located in nucleus	IDA IDA: 通过直接分析推断	27732854	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

GATAD2B 蛋白结构

GATA

0
100
200
300
400
500
593 a.a.

蛋白主名

其他名称

transcriptional repressor p66-beta

GATA zinc finger domain-containing protein 2B

GATAD2B 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	GATAD2B	Q8WXI9	NGB	Homo sapiens	Q9NPG2	Validated Y2H	32296183
Intra	GATAD2B	Q8WXI9	PRKAB2	Homo sapiens	O43741	Y2H Array	25416956
Intra	GATAD2B	Q8WXI9	MBD3	Homo sapiens	O95983	Anti Tag CoIP	33961781
Intra	GATAD2B	Q8WXI9	MBD3	Homo sapiens	O95983	Y2H Array	25416956
Intra	GATAD2B	Q8WXI9	ZBTB7A	Homo sapiens	O95365	Anti Bait CoIP	26816381
Intra	GATAD2B	Q8WXI9	GPSM3	Homo sapiens	Q9Y4H4	Validated Y2H	32296183
Intra	GATAD2B	Q8WXI9	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	25416956
Intra	GATAD2B	Q8WXI9	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	25416956
Intra	GATAD2B	Q8WXI9	TRIM27	Homo sapiens	P14373	Validated Y2H	25416956
Intra	GATAD2B	Q8WXI9	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	25416956
Intra	GATAD2B	Q8WXI9	CEP70	Homo sapiens	Q8NHQ1	Validated Y2H	25416956
Intra	GATAD2B	Q8WXI9	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	25416956
Intra	GATAD2B	Q8WXI9	USHBP1	Homo sapiens	Q8N6Y0	Y2H Array	25416956
Intra	GATAD2B	Q8WXI9	TEX11	Homo sapiens	Q8IYF3	Y2H Prey Pooling	25416956
Intra	GATAD2B	Q8WXI9	TEX11	Homo sapiens	Q8IYF3	Y2H Array	25416956
Intra	GATAD2B	Q8WXI9	NME7	Homo sapiens	Q9Y5B8	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Gand Syndrome

Mrd18	GAND
Mental Retardation, Autosomal Dominant 18	Autosomal Dominant Non-Syndromic Intellectual Disability 18
Autosomal Dominant Intellectual Developmental Disorder 18	Autosomal Dominant Mental Retardation 18

Gatad2b-Associated Neurodevelopmental Disorder

Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 43

MRD43	Autosomal Dominant Non-Syndromic Intellectual Disability 43
Autosomal Dominant Intellectual Developmental Disorder 43	Autosomal Dominant Mental Retardation 43

Macular Dystrophy, Patterned, 2

Patterned Macular Dystrophy 2	MDPT2
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	Butterfly-Shaped Pigmentary Maculary Dystrophy 2

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-P10326	Z-ATAD-FMK	Inhibitor	/	否
HY-RS05297	GATAD2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	GATAD2B	VGNC	VGNC:62478
Macaca mulatta	GATAD2B	VGNC	VGNC:72812
Bos taurus	GATAD2B	VGNC	VGNC:29272
Canis familiaris	GATAD2B	VGNC	VGNC:41127
Mus musculus	GATAD2B	MGD	MGI:2443225
Rattus norvegicus	GATAD2B	RGD	RGD:1308533

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