GATA6 (GATA binding protein 6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2627
Gene name GATA binding protein 6
Gene symbol GATA6
Synonyms (NCBI Gene)
-
Chromosome 18
Chromosome location 18q11.2
Summary This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and l
SNPs SNP information provided by dbSNP.
18
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
SNP ID Visualize variation Clinical significance Consequence
rs387906813 A>C,G Pathogenic Missense variant, coding sequence variant
rs387906814 C>G Likely-benign, pathogenic Missense variant, coding sequence variant
rs387906815 C>T Likely-benign, pathogenic Missense variant, coding sequence variant
rs387906816 G>A Benign, likely-benign, pathogenic-likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs387906817 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
2141
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2141)
miRTarBase ID miRNA Experiments Reference
MIRT000244 hsa-miR-181a-5p Luciferase reporter assay 19585654
MIRT000239 hsa-miR-181b-5p Luciferase reporter assay 19585654
MIRT000234 hsa-miR-181c-5p Luciferase reporter assay 19585654
MIRT004006 hsa-miR-200a-3p Microarray 17875710
MIRT005905 hsa-miR-1-3p qRT-PCR 21169019
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
HEY1 Repression 16199874
HEY2 Repression 16199874
NANOG Repression 15983365
POU5F1 Repression 14990861;17068183
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
98
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (98)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 18177748
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 9566909, 18177748, 19666519, 20206639
GO:0000976 Function Transcription cis-regulatory region binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601656 4174 ENSG00000141448
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92908
Protein name Transcription factor GATA-6 (GATA-binding factor 6)
Protein function Transcriptional activator (PubMed:19666519, PubMed:22750565, PubMed:22824924, PubMed:27756709). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate gene
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05349 GATA-N 147 → 378 GATA-type transcription activator, N-terminal Family
PF00320 GATA 390 → 424 GATA zinc finger Domain
PF00320 GATA 444 → 478 GATA zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, gut and gut-derived tissues. Expressed in skin upper pilosebaceous unit. Expression is decreased or lost in acne lesions (PubMed:33082341). {ECO:0000269|PubMed:33082341}.
Sequence 
MALTDGGWCLPKRFGAAGADASDSRAFPAREPSTPPSPISSSSSSCSRGGERGPGGASNC
GTPQLDTEAAAGPPARSLLLSSYASHPFGAPHGPSAPGVAGPGGNLSSWEDLLLFTDLDQ
AATASKLLWSSRGAKLSPFAPEQPEEMYQTLAALSSQGPAAYDGAPGGFVHSAAAAAAAA
AAASSPVYVPTTRVGSMLPGLPYHLQGSGSGPANHAGGAGAHPGWPQASADSPPYGSGGG
AAGGGAAGPGGAGSAAAHVSARFPYSPSPPMANGAAREPGGYAAAGSGGAGGVSGGGSSL
AAMGGREPQYSSLSAARPLNGTYHHHHHHHHHHPSPYSPYVGAPLTPAWPAGPFETPVLH
SLQSRAGAPLPVPRGPSADLLEDLSESRECVNCGSIQTPLWRRDGTGHYLCNACGLYSKM
NGLSRPLIKPQKRVPSSRRLGLSCANCHTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRP
LAMKKEGIQTRKRKPKNINKSKTCSGNSNNSIPMTPTSTSSNSDDCSKNTSPTTQPTASG
AGAPVMTGAGESTNPENSELKYSGQDGLYIGVSLASPAEVTSSVRPDSWCALALA
Sequence length 595
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Surfactant metabolism
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
44
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (10)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal cardiovascular system morphology Pathogenic rs587777710, rs1555628863, rs387906818 RCV000191916
RCV000191917
RCV000191918
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrioventricular septal defect 5 Pathogenic rs2143300954, rs2143300665, rs1277769195, rs2510626008, rs1598737972, rs387906818, rs1598737976, rs2033057699 RCV001897585
RCV001916279
RCV002890446
RCV003643604
RCV001852013
View all (3 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical coarctation of aorta Likely pathogenic rs1598738032 RCV000845200
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital diaphragmatic hernia Pathogenic rs587777710, rs1555628863, rs387906818 RCV000191916
RCV000191917
RCV000191918
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (34)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Atrial septal defect 9 Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR SEPTAL DEFECT — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (284)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15833844, 21407225, 24317510, 28052061, 29434936
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 22375031
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 29434936
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23707782, 29469192
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 20553613
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15666845, 15767045, 24952462, 29434936
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 15767045
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 15666845, 15767045
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 23866946 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 23866946
★★★★★
★☆☆☆☆
Found in Text Mining only