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GATAD1 - GATA zinc finger domain containing 1 Gene

Also Known as ODAG; CMD2B; RG083M05.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57798

About 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.

Summary

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 Products (1)

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

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Références	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	20850016	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in nucleus	IDA IDA: Inferred from direct assay	21965549	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

GATAD1 Protein Structure

GATA

0
100
200
269 a.a.

Protein Preferred Names	Protein Names
GATA zinc finger domain-containing protein 1	ocular development-associated gene protein

Related Diseases

Diseases	Alias
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

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 (2)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-P10326	Z-ATAD-FMK	Inhibitor	/	Unkown
HY-RS05295	GATAD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	GATAD1	NCBI