GATA6 (GATA binding protein 6)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2627
Gene name Gene Name - the full gene name approved by the HGNC.
GATA binding protein 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GATA6
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601656 4174 ENSG00000141448
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Atrioventricular septal defect atrioventricular septal defect 5 rs1598737972, rs1598737976, rs2033057699 N/A
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome pancreatic hypoplasia-diabetes-congenital heart disease syndrome rs587776936, rs587777710, rs1555628863, rs797045593, rs1598737976, rs387906817, rs587776872, rs387906818, rs387906819, rs387906813 N/A
persistent truncus arteriosus Persistent truncus arteriosus rs1598737972, rs387906813 N/A
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation familial atrial fibrillation N/A N/A GenCC
Atrial Septal Defect atrial septal defect 9 N/A N/A ClinVar
Conotruncal heart defect conotruncal heart malformations N/A N/A GenCC
Diabetes Triglyceride levels in non-type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (119)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 37700164
Acne Vulgaris Inhibit 33082341
Adenocarcinoma Associate 22375031, 26383589, 27586588, 28052061, 28102292, 30962179, 33300112
Adenocarcinoma Inhibit 23707782
Adenocarcinoma of Lung Inhibit 23707782
Adenocarcinoma of Lung Associate 27496649, 33992085
Adrenocortical Carcinoma Associate 23866946
Amyloidosis Associate 28938416
Aneuploidy Associate 19581290
Atrial myxoma familial Associate 31301121