Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	140628
Gene name	GATA binding protein 5
Gene symbol	GATA5
Synonyms (NCBI Gene)	CHTD5GATASbB379O24.1
Chromosome	20
Chromosome location	20q13.33
Summary	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

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs782051102	A>G	Pathogenic	Missense variant, coding sequence variant
rs782773387	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555896778	A>C	Pathogenic	Coding sequence variant, missense variant
rs1555896779	G>C	Pathogenic	Coding sequence variant, missense variant
rs1555897088	A>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018574	hsa-miR-335-5p	Microarray	18185580
MIRT1012726	hsa-miR-1293	CLIP-seq
MIRT1012727	hsa-miR-3607-5p	CLIP-seq
MIRT1012728	hsa-miR-3622a-5p	CLIP-seq
MIRT1012729	hsa-miR-3689d	CLIP-seq
MIRT1012730	hsa-miR-4436a	CLIP-seq
MIRT1012731	hsa-miR-4483	CLIP-seq
MIRT1012732	hsa-miR-4501	CLIP-seq
MIRT1012733	hsa-miR-4755-3p	CLIP-seq
MIRT1012734	hsa-miR-564	CLIP-seq
MIRT1999950	hsa-miR-339-5p	CLIP-seq
MIRT1999951	hsa-miR-4446-5p	CLIP-seq
MIRT1999952	hsa-miR-4474-3p	CLIP-seq
MIRT1999953	hsa-miR-4755-5p	CLIP-seq
MIRT1999954	hsa-miR-579	CLIP-seq
MIRT1999955	hsa-miR-670	CLIP-seq
MIRT2233392	hsa-miR-198	CLIP-seq
MIRT2233393	hsa-miR-221	CLIP-seq
MIRT2233394	hsa-miR-222	CLIP-seq
MIRT2233395	hsa-miR-30a	CLIP-seq
MIRT2233396	hsa-miR-30b	CLIP-seq
MIRT2233397	hsa-miR-30c	CLIP-seq
MIRT2233398	hsa-miR-30d	CLIP-seq
MIRT2233399	hsa-miR-30e	CLIP-seq
MIRT2233400	hsa-miR-4267	CLIP-seq
MIRT2233401	hsa-miR-452	CLIP-seq
MIRT2233402	hsa-miR-4676-3p	CLIP-seq
MIRT2233403	hsa-miR-548v	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
USF1	Activation	22625849

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	ISS
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	9566909
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0003129	Process	Heart induction	IEA
GO:0003129	Process	Heart induction	ISS
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	IMP	22641149, 24638895
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003274	Process	Endocardial cushion fusion	IEA
GO:0003274	Process	Endocardial cushion fusion	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	14986113
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9566909
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009888	Process	Tissue development	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IBA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	14986113
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048738	Process	Cardiac muscle tissue development	IBA
GO:0060575	Process	Intestinal epithelial cell differentiation	IDA	9566909
GO:0062000	Process	Positive regulation of cardiac endothelial to mesenchymal transition	IEA
GO:0062000	Process	Positive regulation of cardiac endothelial to mesenchymal transition	ISS
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0071732	Process	Cellular response to nitric oxide	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:1902512	Process	Positive regulation of apoptotic DNA fragmentation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
611496	15802	ENSG00000130700

Q9BWX5

Protein name

Transcription factor GATA-5 (GATA-binding factor 5)

Protein function

Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 n

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05349	GATA-N	1 → 176	GATA-type transcription activator, N-terminal	Family
PF00320	GATA	189 → 223	GATA zinc finger	Domain
PF00320	GATA	243 → 277	GATA zinc finger	Domain

Sequence

MYQSLALAASPRQAAYADSGSFLHAPGAGSPMFVPPARVPSMLSYLSGCEPSPQPPELAA
RPGWAQTATADSSAFGPGSPHPPAAHPPGATAFPFAHSPSGPGSGGSAGGRDGSAYQGAL
LPREQFAAPLGRPVGTSYSATYPAYVSPDVAQSWTAGPFDGSVLHGLPGRRPTFVSDFLE
EFPGEGRECVNCGALSTPLWRRDGTGHYLCNACGLYHKMNGVNRPLVRPQKRLSSSRRAG
LCCTNCHTTNTTLWRRNSEGEPVCNACGLYMKLHGVPRPLAMKKESIQTRKRKPKTIAKA
RGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPSMAPQASGQEDDSLAPGHL
EFKFEPEDFAFPSTAPSPQAGLRGALRQEAWCALALA

Sequence length

397

Interactions

View interactions

	Reactome
			Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital heart defects, multiple types, 5	Pathogenic	rs782051102, rs1555896779, rs1555896778, rs1555897088	RCV000590860 RCV000590866 RCV000590855 RCV000590859

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aortic valve disease 1	Uncertain significance	rs145205240	RCV000157241
Arterial dissection	Uncertain significance	rs730880111	RCV000157240
Congenital heart defects, multiple types	Uncertain significance	rs376516182, rs116503780	RCV004785452 RCV004785455
Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance; Benign; Likely benign	rs145205240, rs113068438, rs781802523, rs869025434	RCV000157241 RCV000157239 RCV000208492 RCV000208303
GATA5-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs150649875, rs539125153, rs113823160, rs572247741, rs6142775, rs73303279, rs782042308, rs376516182, rs373652316, rs113068438, rs782198035, rs1332121694, rs144082730, rs1555896032, rs1989835264 View all (9 more)	RCV003948579 RCV003956253 RCV003394146 RCV003948607 RCV003980712 RCV003975880 RCV004746513 RCV003408079 RCV003903343 RCV003917539 RCV003971302 RCV004725321 RCV003898549 RCV003410385 RCV003412227 RCV003408784 RCV004747314 RCV004747393 RCV003949589 RCV003921982 RCV003917336 RCV003955712 RCV003930399 RCV003936267

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	22028801
Adenocarcinoma of Lung	Inhibit	35040754
Adenoma	Associate	21154739, 25759530
Aortic Coarctation	Associate	24796370
Atrial Fibrillation	Associate	23295592
Atrioventricular Septal Defect	Associate	23040494
Bicuspid Aortic Valve Disease	Associate	24796370, 25260786, 34461831
Carcinogenesis	Associate	17912029, 20222162, 23736679
Carcinoma Hepatocellular	Inhibit	30672133
Carcinoma Renal Cell	Associate	24533449, 24549248, 36961416
Cardiomyopathy Dilated	Associate	34461831
Cardiomyopathy Hypertrophic	Associate	33757590
Central Serous Chorioretinopathy	Associate	31872073, 37079300
Colorectal Neoplasms	Associate	14612389, 17167178, 24980446, 25538088, 25759530
Disease	Associate	24549248, 31872073
Down Syndrome	Associate	23040494
Endometrial Neoplasms	Associate	23736679
Endometriosis	Associate	23656391
Gastroesophageal Reflux	Associate	22028801
Gastrointestinal Neoplasms	Associate	14612389
Heart Defects Congenital	Associate	24796370, 40076735
Lung Neoplasms	Associate	32138766
Lymphatic Metastasis	Associate	25759530, 36961416
Lymphoma Non Hodgkin	Associate	24998186
Neoplasm Metastasis	Associate	24549248
Neoplasm Metastasis	Inhibit	30672133
Neoplasms	Inhibit	21710491, 24533449, 30672133
Neoplasms	Associate	23736679, 24549248, 24998186, 29581595, 30984543
Ovarian Diseases	Associate	23656391
Ovarian Neoplasms	Associate	23438850
Pancreatic Neoplasms	Associate	17912029
Prostatic Neoplasms	Associate	35358005
Pulmonary Valve Stenosis	Associate	40076735
Retinal Dysplasia	Associate	20222162, 21154739
Retinoblastoma	Associate	22278416
Stomach Diseases	Associate	27225266
Stomach Neoplasms	Associate	14612389, 20222162, 22028801, 27225266
Tetralogy of Fallot	Associate	23289003, 40076735

GATA5 (GATA binding protein 5)