GATAD1 - GATA zinc finger domain containing 1 Gene

中文名称：含 GATA 锌指结构域 1

种属: Homo sapiens

同用名: ODAG; CMD2B; RG083M05.2

基因 ID: 57798 | 基因类型: protein coding

关于 GATAD1

Cytogenetic location: 7q21.2 Genomic coordinates (GRCh38): 7:92,447,482-92,495,769 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 8.0), endometrium (RPKM 6.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质在 N 末端包含一个锌指，并被认为与调节基因表达的组蛋白修饰位点结合。该基因的突变与常染色体隐性遗传扩张型心肌病有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 6 月]

The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

GATAD1 基因产物(1)

mRNA	Protein	Name
NM_021167.5	NP_066990.3	GATA zinc finger domain-containing protein 1

基因本体论

生物过程
细胞组分

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	20850016	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	21965549	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

GATAD1 蛋白结构

GATA

0
100
200
269 a.a.

蛋白主名

其他名称

GATA zinc finger domain-containing protein 1

ocular development-associated gene protein

关联疾病

疾病名称

别名

Cardiomyopathy, Dilated, 2b

CMD2B	Dilated Cardiomyopathy 2b
Cardiomyopathy, Dilated 2b	Cardiomyopathy, Dilated, Type 2b

Refsum Disease, Infantile Form

Infantile Refsum Disease	Ird
Infantile Form Of Phytanic Acid Storage Disease

Heimler Syndrome 1

Deafness Enamel Hypoplasia Nail Defects	Heimler Syndrome
HMLR1	Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
Peroxisome Biogenesis Disorder 1c	Pbd1c
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities
Peroxisomal Biogenesis Disorder 1c	Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects
Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome	Heimler, Syndrome
Heimler Syndrome, Type 1

Peroxisome Biogenesis Disorder 1a

PBD1A	Zs
Zws	Cerebrohepatorenal Syndrome
Chr	Zellweger Syndrome
Cerebro-Hepato-Renal Syndrome	Chr Syndrome
Zellweger'S Syndrome	Peroxisome Biogenesis Disorder Complementation Group 1
PBD-CG1	Cg1
Pbd-Cge	Peroxisome Biogenesis Disorder Complementation Group E
Peroxisome Biogenesis Disorder, Complementation Group 1	Cerebrohepatorenal Syndrome, Variant Types
Peroxisome Biogenesis Disorder Type 1a	Peroxisome Biogenesis Disorder, Type 1a

Zellweger Spectrum Disorder

Zsd	Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Zellweger Spectrum	Cerebrohepatorenal Syndrome
Pbd, Zss	Pbd-Zsd
Zellweger Syndrome Spectrum	Zellweger Syndrome

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Ohdo Syndrome

Young Simpson Syndrome	Ohdo Blepharophimosis Syndrome
Blepharophimosis Syndrome Ohdo Type	Blepharophimosis Intellectual Disability Syndromes
Bmrs	Blepharophimosis-Intellectual Disability Syndrome
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth	Sbbys Syndrome
Say Barber Biesecker Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Bmrs, Ohdo Type	Blepharophimosis Syndrome, Ohdo Type
Ohdo-Madokoro-Sonoda Syndrome	Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
Blepharophimosis - Intellectual Disability Syndrome

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-RS05295	GATAD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	GATAD1	VGNC	VGNC:62476
Canis familiaris	GATAD1	VGNC	VGNC:41125
Mus musculus	GATAD1	MGD	MGI:1914460
Macaca mulatta	GATAD1	VGNC	VGNC:72809
Bos taurus	GATAD1	VGNC	VGNC:29270
Rattus norvegicus	GATAD1	RGD	RGD:1562004

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