GATA6
Transcription factor GATA-6
Also known as: GATA6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92908
- Gene
- GATA6
- Ensembl
- ENSG00000141448
- Chromosome
- 18
- Canonical length
- 595 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI 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 localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
595 residues, UniProt reviewed canonical sequence.
>Q92908|GATA6
1 MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG ERGPGGASNC
61 GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA GPGGNLSSWE DLLLFTDLDQ
121 AATASKLLWS SRGAKLSPFA PEQPEEMYQT LAALSSQGPA AYDGAPGGFV HSAAAAAAAA
181 AAASSPVYVP TTRVGSMLPG LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG
241 AAGGGAAGPG GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL
301 AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP AGPFETPVLH
361 SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL WRRDGTGHYL CNACGLYSKM
421 NGLSRPLIKP QKRVPSSRRL GLSCANCHTT TTTLWRRNAE GEPVCNACGL YMKLHGVPRP
481 LAMKKEGIQT RKRKPKNINK SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG
541 AGAPVMTGAG ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALALocalizationUniProt · AlphaFold · HPA
Whether an antibody against GATA6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.69
- Highest tissue expression
- 70 nTPM
Expression across tissuesHPA
Tissue
- ovary: 70 nTPM
- adrenal gland: 57 nTPM
- stomach: 47 nTPM
- heart muscle: 43 nTPM
- blood vessel: 32 nTPM
- fallopian tube: 27 nTPM
Single-cell type
- adrenal cortex cells: 380 nCPM
- parietal cells: 297 nCPM
- mucous neck cells: 285 nCPM
- mesothelial cells: 210 nCPM
- alveolar cells type 2: 202 nCPM
- foveolar cells: 184 nCPM
Immune cell
- basophil: 4 nTPM
- gdT-cell: 0.1 nTPM
- MAIT T-cell: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- choroid plexus: 5.9 nTPM
- cerebral cortex: 0.8 nTPM
- spinal cord: 0.5 nTPM
- basal ganglia: 0.4 nTPM
- hippocampal formation: 0.3 nTPM
- medulla oblongata: 0.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GATA6.
Disease | AllUniProt
Conditions GATA6 is implicated in, by any mechanism.
- Conotruncal heart malformations (CTHM) MIM:217095
- Atrial septal defect 9 (ASD9) MIM:614475
- Tetralogy of Fallot (TOF) MIM:187500
- Atrioventricular septal defect 5 (AVSD5) MIM:614474
- Pancreatic agenesis and congenital heart defects (PACHD) MIM:600001
Disease | GeneticClinVar
51 pathogenic / likely-pathogenic of 760 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- Atrioventricular septal defect 5
- Tetralogy of Fallot
- Congenital diaphragmatic hernia
- Conotruncal heart malformations
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.17
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.28
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ formation
- atrioventricular canal development
- atrioventricular node development
- cardiac muscle cell differentiation
- cardiac muscle cell proliferation
- cardiac muscle hypertrophy in response to stress
- cardiac vascular smooth muscle cell differentiation
- cell fate commitment
- cellular response to BMP stimulus
- cellular response to gonadotropin stimulus
- cellular response to hypoxia
- club cell differentiation
- endodermal cell fate determination
- epithelial cell differentiation
- G1 to G0 transition involved in cell differentiation
- gene expression
- heart contraction
- in utero embryonic development
- intestinal epithelial cell differentiation
- liver development
- lung saccule development
- male gonad development
- negative regulation of apoptotic process
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- negative regulation of transforming growth factor beta1 production
- outflow tract septum morphogenesis
- pancreatic A cell differentiation
- phospholipid metabolic process
- positive regulation of angiogenesis
- positive regulation of cardiac muscle cell proliferation
- positive regulation of cardiac muscle myoblast proliferation
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- regulation of antimicrobial humoral response
- response to estrogen
- response to growth factor
- response to retinoic acid
- response to xenobiotic stimulus
- sebaceous gland cell differentiation
- sinoatrial node development
- skin epidermis development
- smooth muscle cell differentiation
- stem cell differentiation
- type B pancreatic cell differentiation
- type II pneumocyte differentiation
- negative regulation of sebum secreting cell proliferation
- negative regulation of transforming growth factor beta2 production
- tube morphogenesis
Molecular functions
- chromatin binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription factor binding
- NFAT protein binding
- protein kinase binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
- transcription coactivator binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GATA6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GATA6 as an antibody target. Whether an autoantibody or antibody against GATA6 could matter depends on whether native GATA6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GATA6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GATA6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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