• Gene id: 57798

Gene Summary

• Gene Symbol: GATAD1   Gene   UCSC   Ensembl
• Aliases: CMD2B, ODAG, RG083M05.2
• Gene name: GATA zinc finger domain containing 1
• Alternate names: GATA zinc finger domain-containing protein 1, ocular development-associated gene protein,
• Gene location: 7q21.2 (92447447: 92494630)     Exons: 11     NC_000007.14
• Gene summary(Entrez): 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. A
• OMIM: 614518

Protein Summary

• Protein general information: Q8WUU5  
  • Name: GATA zinc finger domain containing protein 1 (Ocular development associated gene protein)
  • Length: 269  
  • Mass: 28690
  • Tissue specificity: Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes. {ECO
• Sequence:

  MPLGLKPTCSVCKTTSSSMWKKGAQGEILCHHCTGRGGAGSGGAGSGAAGGTGGSGGGGFGAATFASTSATPPQS
  NGGGGGKQSKQEIHRRSARLRNTKYKSAPAAEKKVSTKGKGRRHIFKLKNPIKAPESVSTIITAESIFYKGVYYQ
  IGDVVSVIDEQDGKPYYAQIRGFIQDQYCEKSAALTWLIPTLSSPRDQFDPASYIIGPEEDLPRKMEYLEFVCHA
  PSEYFKSRSSPFPTVPTRPEKGYIWTHVGPTPAITIKESVANHL

• Structural information:
  • Interpro: IPR039050  IPR000679  IPR013088  
  • Prosite: PS50114
  • STRING: ENSP00000287957
• Other Databases: GeneCards:  GATAD1  Malacards:  GATAD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006325	chromatin organization	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006338	chromatin remodeling	IDA	biological process

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Dilated cardiomyopathy	KEGG:H00294
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq