• Gene id: 140628

Gene Summary

• Gene Symbol: GATA5   Gene   UCSC   Ensembl
• Aliases: CHTD5, GATAS, bB379O24.1
• Gene name: GATA binding protein 5
• Alternate names: transcription factor GATA-5, GATA binding factor-5,
• Gene location: 20q13.33 (62475994: 62463496)     Exons: 8     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the
• OMIM: 611496

Protein Summary

• Protein general information: Q9BWX5  
  • Name: Transcription factor GATA 5 (GATA binding factor 5)
  • Length: 397  
  • Mass: 41299
• Sequence:

  MYQSLALAASPRQAAYADSGSFLHAPGAGSPMFVPPARVPSMLSYLSGCEPSPQPPELAARPGWAQTATADSSAF
  GPGSPHPPAAHPPGATAFPFAHSPSGPGSGGSAGGRDGSAYQGALLPREQFAAPLGRPVGTSYSATYPAYVSPDV
  AQSWTAGPFDGSVLHGLPGRRPTFVSDFLEEFPGEGRECVNCGALSTPLWRRDGTGHYLCNACGLYHKMNGVNRP
  LVRPQKRLSSSRRAGLCCTNCHTTNTTLWRRNSEGEPVCNACGLYMKLHGVPRPLAMKKESIQTRKRKPKTIAKA
  RGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPSMAPQASGQEDDSLAPGHLEFKFEPEDFAFPSTA
  PSPQAGLRGALRQEAWCALALA

• Structural information:
  • Interpro: IPR008013  IPR016375  IPR039355  IPR000679  IPR013088  
  • Prosite: PS00344 PS50114
  • CDD: cd00202
  • STRING: ENSP00000252997
• Other Databases: GeneCards:  GATA5  Malacards:  GATA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045165	cell fate commitment	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0048738	cardiac muscle tissue development	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0060575	intestinal epithelial cell differentiation	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901228	positive regulation of transcription from RNA polymerase II promoter involved in heart development	IEA	biological process
GO:0062000	positive regulation of cardiac endothelial to mesenchymal transition	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0010614	negative regulation of cardiac muscle hypertrophy	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003180	aortic valve morphogenesis	IEA	biological process
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0071773	cellular response to BMP stimulus	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0035481	positive regulation of Notch signaling pathway involved in heart induction	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0003274	endocardial cushion fusion	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0035481	positive regulation of Notch signaling pathway involved in heart induction	ISS	biological process
GO:0003180	aortic valve morphogenesis	ISS	biological process
GO:0062000	positive regulation of cardiac endothelial to mesenchymal transition	ISS	biological process
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0003274	endocardial cushion fusion	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:1901228	positive regulation of transcription from RNA polymerase II promoter involved in heart development	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process

Diseases

Associated diseases	References
Congenital heart defects, multiple type	KEGG:H02199
Congenital heart defects, multiple type	KEGG:H02199
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