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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,... See more...
Aliases for GATA6 Gene
Aliases for GATA6 Gene
External Ids for GATA6 Gene
- HGNC: 4174
- NCBI Entrez Gene: 2627
- Ensembl: ENSG00000141448
- OMIM®: 601656
- UniProtKB/Swiss-Prot: Q92908
Previous GeneCards Identifiers for GATA6 Gene
- GC18P019625
- GC18P019481
- GC18P018003
- GC18P018001
- GC18P019749
- GC18P016596
Summaries for GATA6 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]
GeneCards Summary for GATA6 Gene
GATA6 (GATA Binding Protein 6) is a Protein Coding gene. Diseases associated with GATA6 include Heart Defects, Congenital, And Other Congenital Anomalies and Atrioventricular Septal Defect 5. Among its related pathways are Notch-mediated HES/HEY network and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is GATA4.
UniProtKB/Swiss-Prot Summary for GATA6 Gene
-
Transcriptional activator (PubMed:19666519, PubMed:27756709, PubMed:22750565, PubMed:22824924). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). In human skin, controls several physiological processes contributing to homeostasis of the upper pilosebaceous unit. Triggers ductal and sebaceous differentiation as well as limits cell proliferation and lipid production to prevent hyperseborrhoea. Mediates the effects of retinoic acid on sebocyte proliferation, differentiation and lipid production. Also contributes to immune regulation of sebocytes and antimicrobial responses by modulating the expression of anti-inflammatory genes such as IL10 and pro-inflammatory genes such as IL6, TLR2, TLR4, and IFNG. Activates TGFB1 signaling which controls the interfollicular epidermis fate (PubMed:33082341).
Additional gene information for GATA6 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GATA6 Gene
Genomics for GATA6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GATA6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GATA6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GATA6
- Top Transcription factor binding sites by QIAGEN in the GATA6 gene promoter:
-
- AREB6
- C/EBPalpha
- Nkx2-5
Genomic Locations for GATA6 Gene
Latest Assembly
- chr18:22,169,589-22,202,528
- (GRCh38/hg38)
- Size:
- 32,940 bases
- Orientation:
- Plus strand
Previous Assembly
- chr18:19,749,550-19,782,491
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 32,942 bases
- Orientation:
- Plus strand
Genomic View for GATA6 Gene
Genes around GATA6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q11.2 by HGNC
- 18q11.2 by Entrez Gene
- 18q11.2 by Ensembl
GATA6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GATA6 Gene
Proteins for GATA6 Gene
-
Protein details for GATA6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92908-GATA6_HUMAN
- Recommended name:
- Transcription factor GATA-6
- Protein Accession:
- Q92908
- B0YJ17
- P78327
Protein attributes for GATA6 Gene
- Size:
- 595 amino acids
- Molecular mass:
- 60033 Da
- Quaternary structure:
-
- Interacts with LMCD1.
- Miscellaneous:
-
- [Isoform 2]: Produced by alternative initiation at Met-147 of isoform 1.
Protein Expression for GATA6 Gene
Post-translational modifications for GATA6 Gene
Other Protein References for GATA6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences GATA6 Antibody
- Novus Biologicals Antibodies for GATA6
-
Abcam antibodies for GATA6
- Invitrogen Antibodies for GATA6 (AFLGC-GATA6)
-
Custom Antibody ServicesProSci Antibodies for GATA6
-
Santa Cruz Biotechnology (SCBT) Antibodies for GATA6
Protein products for research
-
OriGene Purified Proteins for GATA6
- Search Origene for MassSpec and Protein Over-expression Lysates for GATA6
- Origene Custom Protein Services for GATA6
- antibodies-online: Show 8 available GATA6 Proteins ranked by validation data
- Compare Top GATA6 Proteins
-
Quality Products:
-
Abcam proteins for GATA6
Assay products for research
- antibodies-online: Show 4 available GATA6 Elisa Kits ranked by validation data
- Compare Top GATA6 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for GATA6
No data available for DME Specific Peptides for GATA6 Gene
Domains & Families for GATA6 Gene
Gene Families for GATA6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for GATA6 Gene
- InterPro:
- Blocks:
-
- Zn-finger, GATA type
- GATA-type transcription activator, N-terminal
Suggested Antigen Peptide Sequences for GATA6 Gene
- GenScript: Design optimal peptide antigens:
-
- GATA-binding factor 6 (GATA6_HUMAN)
- GATA6 protein (Q05CA6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q92908- Domain:
-
- The GATA-type zinc fingers mediate interaction with LMCD1.
Function for GATA6 Gene
Molecular function for GATA6 Gene
- UniProtKB/Swiss-Prot Function:
- Transcriptional activator (PubMed:19666519, PubMed:27756709, PubMed:22750565, PubMed:22824924). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). In human skin, controls several physiological processes contributing to homeostasis of the upper pilosebaceous unit. Triggers ductal and sebaceous differentiation as well as limits cell proliferation and lipid production to prevent hyperseborrhoea. Mediates the effects of retinoic acid on sebocyte proliferation, differentiation and lipid production. Also contributes to immune regulation of sebocytes and antimicrobial responses by modulating the expression of anti-inflammatory genes such as IL10 and pro-inflammatory genes such as IL6, TLR2, TLR4, and IFNG. Activates TGFB1 signaling which controls the interfollicular epidermis fate (PubMed:33082341).
- UniProtKB/Swiss-Prot Induction:
- In sebocytes, expression is up-regulated by Cutibacterium acnes.
- GENATLAS Biochemistry:
- regulatory transcriptional factor,GATA binding protein expressed in the developing heart,lung,gastrointestinal and gut derived tissues,not in the testis
Phenotypes From GWAS Catalog for GATA6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 9566909 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IMP,ISA | -- |
| GO:0001103 | RNA polymerase II repressing transcription factor binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for GATA6 Gene
- MGI mutant phenotypes for GATA6:
-
inferred from 11 alleles
- normal phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for GATA6:
-
- shRNA abundance <= 25%
- no effect
- Decreased viability
- Synthetic lethal with Ras
- Decreased transferrin (TF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in colon lineage
- Increased Salmonella proliferation
Animal Models for GATA6 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GATA6 - Starting at $85 >
- * GATA6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GATA6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GATA6
-
Santa Cruz Biotechnology (SCBT) CRISPR for GATA6
miRNA for GATA6 Gene
- miRTarBase miRNAs that target GATA6
-
- hsa-miR-181c-5p (MIRT000234)
- hsa-miR-181b-5p (MIRT000239)
- hsa-miR-181a-5p (MIRT000244)
- dre-miR-145-5p (MIRT003188)
- hsa-miR-200a-3p (MIRT004006)
- hsa-miR-1-3p (MIRT005905)
- mmu-miR-181a-5p (MIRT007334)
- mmu-miR-124-3p (MIRT015659)
- hsa-miR-375 (MIRT019691)
- hsa-miR-128-3p (MIRT021891)
- hsa-miR-124-3p (MIRT022233)
- hsa-miR-98-5p (MIRT027415)
- hsa-miR-92b-3p (MIRT040623)
- hsa-miR-140-5p (MIRT045826)
- hsa-miR-183-5p (MIRT047056)
- hsa-miR-20a-5p (MIRT050560)
- hsa-let-7b-5p (MIRT051882)
- hsa-miR-7111-5p (MIRT484349)
- hsa-miR-6870-5p (MIRT484350)
- hsa-miR-5698 (MIRT484351)
- hsa-miR-4723-5p (MIRT484352)
- hsa-miR-3175 (MIRT484353)
- hsa-miR-6883-5p (MIRT484354)
- hsa-miR-6785-5p (MIRT484355)
- hsa-miR-4728-5p (MIRT484356)
- hsa-miR-149-3p (MIRT484357)
- hsa-miR-8085 (MIRT484358)
- hsa-miR-6731-5p (MIRT484359)
- hsa-miR-6797-5p (MIRT484360)
- hsa-miR-1249-5p (MIRT484361)
- hsa-miR-4306 (MIRT484362)
- hsa-miR-4644 (MIRT484363)
- hsa-miR-185-5p (MIRT484364)
- hsa-miR-6133 (MIRT484365)
- hsa-miR-6130 (MIRT484366)
- hsa-miR-6129 (MIRT484367)
- hsa-miR-6127 (MIRT484368)
- hsa-miR-4419a (MIRT484369)
- hsa-miR-4510 (MIRT484370)
- hsa-miR-6794-5p (MIRT484371)
- hsa-miR-4756-5p (MIRT484372)
- hsa-miR-4716-3p (MIRT484373)
- hsa-miR-4739 (MIRT484374)
- hsa-miR-1321 (MIRT484375)
- hsa-miR-6760-5p (MIRT484376)
- hsa-miR-6873-5p (MIRT484377)
- hsa-miR-6856-5p (MIRT484378)
- hsa-miR-6758-5p (MIRT484379)
- hsa-miR-765 (MIRT493788)
- hsa-miR-4516 (MIRT493789)
- hsa-miR-5703 (MIRT493790)
- hsa-miR-4434 (MIRT493791)
- hsa-miR-4784 (MIRT493792)
- hsa-miR-3150b-3p (MIRT493793)
- hsa-miR-6770-5p (MIRT493794)
- hsa-miR-3185 (MIRT493795)
- hsa-miR-6891-5p (MIRT493796)
- hsa-miR-3173-3p (MIRT493797)
- hsa-miR-1229-3p (MIRT497842)
- hsa-miR-4720-3p (MIRT497843)
- hsa-miR-6862-3p (MIRT497844)
- hsa-miR-6784-3p (MIRT497845)
- hsa-miR-6511b-3p (MIRT497846)
- hsa-miR-6511a-3p (MIRT497847)
- hsa-miR-3620-3p (MIRT497848)
- hsa-miR-6865-3p (MIRT497849)
- hsa-miR-135b-5p (MIRT497850)
- hsa-miR-135a-5p (MIRT497851)
- hsa-miR-889-5p (MIRT497852)
- hsa-miR-154-5p (MIRT497853)
- hsa-miR-6509-5p (MIRT502392)
- hsa-miR-744-3p (MIRT502393)
- hsa-miR-106a-3p (MIRT502394)
- hsa-miR-331-5p (MIRT502395)
- hsa-miR-4684-3p (MIRT502396)
- hsa-miR-4800-3p (MIRT502397)
- hsa-miR-6831-5p (MIRT502398)
- hsa-miR-3927-3p (MIRT502399)
- hsa-miR-4796-3p (MIRT502400)
- hsa-miR-93-5p (MIRT502401)
- hsa-miR-526b-3p (MIRT502402)
- hsa-miR-519d-3p (MIRT502403)
- hsa-miR-20b-5p (MIRT502404)
- hsa-miR-17-5p (MIRT502405)
- hsa-miR-106b-5p (MIRT502406)
- hsa-miR-106a-5p (MIRT502407)
- hsa-miR-548ah-5p (MIRT502408)
- hsa-miR-3609 (MIRT502409)
- hsa-miR-196a-5p (MIRT502410)
- hsa-miR-196b-5p (MIRT502411)
- hsa-miR-3180-5p (MIRT507153)
- hsa-miR-6720-5p (MIRT507154)
- hsa-miR-6512-3p (MIRT507155)
- hsa-miR-4530 (MIRT507156)
- hsa-miR-338-3p (MIRT507157)
- hsa-miR-891b (MIRT537223)
- hsa-miR-4772-3p (MIRT537224)
- hsa-miR-568 (MIRT548114)
- hsa-miR-4325 (MIRT548115)
- hsa-miR-7703 (MIRT548116)
- hsa-miR-5701 (MIRT548117)
- hsa-miR-891a-5p (MIRT548118)
- hsa-miR-942-3p (MIRT548119)
- hsa-miR-4802-3p (MIRT548120)
- hsa-miR-944 (MIRT548121)
- hsa-miR-141-3p (MIRT548122)
- hsa-miR-32-5p (MIRT548123)
- hsa-miR-363-3p (MIRT548124)
- hsa-miR-25-3p (MIRT548125)
- hsa-miR-92a-3p (MIRT548126)
- hsa-miR-367-3p (MIRT548127)
- hsa-miR-2054 (MIRT557639)
- hsa-miR-943 (MIRT557640)
- hsa-miR-6076 (MIRT557641)
- hsa-miR-6797-3p (MIRT557642)
- hsa-miR-548ax (MIRT557643)
- hsa-miR-548ao-5p (MIRT557644)
- hsa-miR-1183 (MIRT557645)
- hsa-miR-429 (MIRT557646)
- hsa-miR-200c-3p (MIRT557647)
- hsa-miR-200b-3p (MIRT557648)
- hsa-miR-520e (MIRT557649)
- hsa-miR-520d-3p (MIRT557650)
- hsa-miR-520c-3p (MIRT557651)
- hsa-miR-520b (MIRT557652)
- hsa-miR-520a-3p (MIRT557653)
- hsa-miR-373-3p (MIRT557654)
- hsa-miR-372-3p (MIRT557655)
- hsa-miR-302e (MIRT557656)
- hsa-miR-302d-3p (MIRT557657)
- hsa-miR-302c-3p (MIRT557658)
- hsa-miR-302b-3p (MIRT557659)
- hsa-miR-302a-3p (MIRT557660)
- hsa-miR-519c-3p (MIRT557661)
- hsa-miR-519b-3p (MIRT557662)
- hsa-miR-519a-3p (MIRT557663)
- hsa-miR-6739-3p (MIRT557664)
- hsa-miR-7152-5p (MIRT557665)
- hsa-miR-3074-5p (MIRT557666)
- hsa-miR-7156-5p (MIRT557667)
- hsa-miR-4273 (MIRT557668)
- hsa-miR-526b-5p (MIRT557669)
- hsa-miR-1200 (MIRT557670)
- hsa-miR-378a-5p (MIRT557671)
- hsa-miR-1253 (MIRT557672)
- hsa-miR-4699-5p (MIRT557673)
- hsa-miR-302d-5p (MIRT557674)
- hsa-miR-302b-5p (MIRT557675)
- hsa-miR-6761-5p (MIRT557676)
- hsa-miR-544b (MIRT557677)
- hsa-miR-4324 (MIRT557678)
- hsa-miR-203a-3p (MIRT557679)
- hsa-miR-6077 (MIRT557680)
- hsa-miR-7-5p (MIRT557681)
- hsa-miR-7850-5p (MIRT557682)
- hsa-miR-4529-3p (MIRT557683)
- hsa-miR-4520-2-3p (MIRT557684)
- hsa-miR-4520-3p (MIRT557685)
- hsa-miR-548aw (MIRT557686)
- hsa-miR-5589-3p (MIRT557687)
- hsa-miR-1468-3p (MIRT557688)
- hsa-miR-548x-5p (MIRT557689)
- hsa-miR-548g-5p (MIRT557690)
- hsa-miR-548f-5p (MIRT557691)
- hsa-miR-548aj-5p (MIRT557692)
- hsa-miR-4772-5p (MIRT557693)
- hsa-miR-383-5p (MIRT557694)
- hsa-miR-4698 (MIRT557695)
- hsa-miR-8063 (MIRT557696)
- hsa-miR-2115-3p (MIRT557697)
- mmu-miR-1264-3p (MIRT583345)
- hsa-miR-664a-5p (MIRT613001)
- hsa-miR-4794 (MIRT613002)
- hsa-miR-892b (MIRT613003)
- hsa-miR-6757-3p (MIRT613004)
- hsa-miR-603 (MIRT613005)
- hsa-miR-8485 (MIRT613006)
- hsa-miR-1912 (MIRT657945)
- hsa-miR-1295b-5p (MIRT657946)
- hsa-miR-6771-5p (MIRT675564)
- hsa-miR-425-3p (MIRT675565)
- hsa-miR-7977 (MIRT675566)
- hsa-miR-6746-5p (MIRT675567)
- hsa-miR-383-3p (MIRT675568)
- hsa-miR-24-3p (MIRT677587)
- hsa-miR-4284 (MIRT677588)
- hsa-miR-6836-3p (MIRT680419)
- hsa-miR-5001-3p (MIRT680420)
- hsa-miR-891a-3p (MIRT680421)
- hsa-miR-564 (MIRT680422)
- hsa-miR-6829-3p (MIRT680423)
- hsa-miR-6791-3p (MIRT680424)
- hsa-miR-6778-3p (MIRT680425)
- hsa-miR-4638-5p (MIRT680426)
- hsa-miR-1307-3p (MIRT680427)
- hsa-miR-1304-3p (MIRT680428)
- hsa-miR-6741-3p (MIRT680429)
- hsa-miR-4726-3p (MIRT680430)
- hsa-miR-6764-5p (MIRT680431)
- hsa-miR-1915-3p (MIRT680432)
- hsa-miR-6840-3p (MIRT680433)
- hsa-miR-199b-5p (MIRT680434)
- hsa-miR-199a-5p (MIRT680435)
- hsa-miR-1825 (MIRT680436)
- hsa-miR-5693 (MIRT680437)
- hsa-miR-6890-3p (MIRT680438)
- hsa-miR-3189-5p (MIRT765343)
- hsa-miR-4293 (MIRT768425)
- hsa-miR-4323 (MIRT768605)
- hsa-miR-4531 (MIRT770069)
- hsa-miR-6849-3p (MIRT780285)
Targeted motifs for GATA6 Gene
HOMER Transcription Factor Regulatory Elements motif GATA6
- Consensus sequence: YCTTATCTBN Submotif: canonical Cell Type: HUG1N GEO ID: GSE51936
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GATA6
- Browse OriGene Inhibitory RNA Products For GATA6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATA6
Clone products for research
- Applied Biological Materials (abm): Clones for GATA6 - Starting at $45 >
- * GATA6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GATA6
- Addgene plasmids for GATA6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GATA6
Cell Lines for research
-
Horizon Cell Lines for GATA6
No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for GATA6 Gene
Localization for GATA6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GATA6 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | ISA | -- |
| GO:0005634 | nucleus | IDA | 9566909 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
| GO:0031965 | nuclear membrane | IDA | -- |
Pathways & Interactions for GATA6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mesodermal Commitment Pathway | ||
| 2 | NF-kappaB Signaling | ||
| 3 | DREAM Repression and Dynorphin Expression |
BMP Pathway
.44
|
|
| 4 | G-AlphaQ Signaling |
Thrombin Signaling
.40
|
|
| 5 | Transcriptional Regulatory Network in Embryonic Stem Cell |
Transcriptional Regulatory Network in Embryonic Stem Cell
-
|
|
Pathways by source for GATA6 Gene
5 BioSystems pathways for GATA6 Gene
4 Reactome pathways for GATA6 Gene
3 Qiagen pathways for GATA6 Gene
- BMP Pathway
- Thrombin Signaling
- Transcriptional Regulatory Network in Embryonic Stem Cell
1 Cell Signaling Technology pathway for GATA6 Gene
Interacting Proteins for GATA6 Gene
Selected Interacting proteins:
Q92908-GATA6_HUMAN
ENSP00000269216
for GATA6 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for GATA6
SIGNOR curated interactions for GATA6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 18177748 |
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0001889 | liver development | IEA | -- |
| GO:0001949 | sebaceous gland cell differentiation | IDA | 33082341 |
| GO:0002759 | regulation of antimicrobial humoral response | IDA | 33082341 |
Transcripts for GATA6 Gene
mRNA/cDNA for GATA6 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000269216 3624 nts (view in UCSC)
- ENST00000581694 2057 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GATA6 - Starting at $85 >
- * GATA6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GATA6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GATA6
-
Santa Cruz Biotechnology (SCBT) CRISPR for GATA6
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GATA6
- Browse OriGene Inhibitory RNA Products For GATA6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATA6
Clone products for research
- Applied Biological Materials (abm): Clones for GATA6 - Starting at $45 >
- * GATA6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GATA6
- Addgene plasmids for GATA6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GATA6
Relevant External Links for GATA6 Gene
- GeneLoc Exon Structure for
- GATA6
Expression for GATA6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Beta/Delta Progenitor Cells Dorsal Pancreatic Bud
- Pancreatic Progenitor Cells Ventral Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
-
Epithelial Cells
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Alveolar Progenitor Cells Terminal Sacs
- Pancreatic Progenitor Cells Ventral Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
-
Gut Tube (Gastrointestinal Tract)
- Foregut Endoderm Cells Foregut
- Multipotent Lung Progenitor Cells Ventral Foregut Endoderm
- Primitive Gut Endoderm Cells Gut Tube
- Ventral Foregut Endoderm Cells Ventral Foregut Endoderm
-
Lung (Respiratory System)
- Alveolar Progenitor Cells Terminal Sacs
- Multipotent Lung Progenitor Cells Ventral Foregut Endoderm
- Distal Lung Progenitor Cells Lung Bud
- Alveolar Epithelial Type 1 Cells Alveoli
-
Heart (Cardiovascular System)
- Cardiomyocyte Progenitor Cells Myocardium
- Outflow Tract Cushion Cells Outflow Tract Cushion
- Cardiomyocytes Myocardium
- Cardiomyocyte-like cells(Behfar A et. al. 2010)
- NULL (Uncategorized)
- Kidney (Urinary System)
- Epiblast (Early Embryonic Tissues)
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
- Morula Cells Morula
- Skeletal Muscle (Muscoskeletal System)
- Hypoblast (Extraembryonic Tissues)
- Endothelium (Cardiovascular System)
- Primitive Streak (Early Embryonic Tissues)
-
Gonad
- Primordial Germ Cell Precursors Epiblast
-
Zygote (Early Embryonic Tissues)
- Morula Cells Morula
-
Trophoblast (Extraembryonic Tissues)
- Morula Cells Morula
- Extraembryonic Tissues (Extraembryonic Tissues)
- Uncategorized
- Endoderm (Gastrulation Derivatives)
- Liver (Hepatobiliary System)
-
Adrenal Gland (Endocrine System)
-
Stomach (Gastrointestinal Tract)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for GATA6 Gene
This gene is overexpressed in Ovary (x6.7), Adrenal Gland (x4.7), and Heart - Left Ventricle (x4.3).
This gene is overexpressed in Urine (46.2) and Pancreatic juice (12.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GATA6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GATA6
SOURCE GeneReport for Unigene cluster for GATA6 Gene:
Hs.514746mRNA Expression by UniProt/SwissProt for GATA6 Gene:
Q92908-GATA6_HUMAN
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).
Evidence on tissue expression from TISSUES for GATA6 Gene
- Heart(4.6)
- Stomach(2.9)
- Muscle(2.9)
- Nervous system(2.5)
- Adrenal gland(2.5)
- Lung(2.5)
- Pancreas(2.5)
- Intestine(2.5)
- Liver(2.5)
- Skin(2.4)
- Bone marrow(2.3)
- Lymph node(2.1)
- Spleen(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GATA6 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- eyelid
- face
- forehead
- head
- lip
- nose
- outer ear
- skull
Thorax:
- aorta
- diaphragm
- heart
- heart valve
- lung
Abdomen:
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- penis
- testicle
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- skin
Primer products for research
-
OriGene qPCR primer pairs for GATA6
Gene Expression Assays for research
No data available for Protein tissue co-expression partners for GATA6 Gene
Orthologs for GATA6 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GATA6 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GATA6 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GATA6 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gata6 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Gata6 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GATA6 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GATA6 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GATA6 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GATA6 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gata6 29 |
|
||
| pnr 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | gata-6 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gata6 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | grn 31 |
|
|
|
| pnr 30 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | elt-1 31 |
|
|
|
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GZF3 32 |
|
|
- Species where no ortholog for GATA6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for GATA6 Gene
- ENSEMBL:
- Gene Tree for GATA6 (if available)
- TreeFam:
- Gene Tree for GATA6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GATA6: view image
- Alliance of Genome Resources:
- Additional Orthologs for GATA6
Paralogs for GATA6 Gene
Variants for GATA6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GATA6 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000801 | Uncertain Significance: Atrioventricular septal defect 5 | 22,172,105(+) |
G/C NM_005257.6(GATA6):c.961G>C (p.Gly321Arg) |
MISSENSE | |
| 1005949 | Uncertain Significance: Atrioventricular septal defect 5 | 22,172,046(+) |
C/A NM_005257.6(GATA6):c.902C>A (p.Ala301Glu) |
MISSENSE | |
| 1007945 | Uncertain Significance: Atrioventricular septal defect 5 | 22,200,689(+) |
A/G NM_005257.6(GATA6):c.1654A>G (p.Ser552Gly) |
MISSENSE | |
| 1013657 | Uncertain Significance: Atrioventricular septal defect 5 | 22,171,928(+) |
C/T NM_005257.6(GATA6):c.784C>T (p.Arg262Cys) |
MISSENSE | |
| 1014669 | Uncertain Significance: Atrioventricular septal defect 5 | 22,171,625(+) |
G/T NM_005257.6(GATA6):c.481G>T (p.Ala161Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.29;
40.93% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GATA6 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATA6 Gene
Disorders for GATA6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| heart defects, congenital, and other congenital anomalies |
|
|
| atrioventricular septal defect 5 |
|
|
| atrial septal defect 9 |
|
|
| conotruncal heart malformations |
|
|
| tetralogy of fallot |
|
Search GATA6 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GATA6_HUMAN- Note=Rare variants in GATA6 may be a cause of susceptibility to atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:22750565, ECO:0000269 PubMed:22824924, ECO:0000269 PubMed:27756709}.
- Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269 PubMed:19666519}. Note=The disease is caused by variants affecting the gene represented in this entry. GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus (PubMed:19666519). {ECO:0000269 PubMed:19666519}.
- Atrial septal defect 9 (ASD9) [MIM:614475]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. {ECO:0000269 PubMed:20631719}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269 PubMed:20581743, ECO:0000269 PubMed:20631719}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Atrioventricular septal defect 5 (AVSD5) [MIM:614474]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269 PubMed:20581743}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]: An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot. {ECO:0000269 PubMed:22158542}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for GATA6
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for GATA6 Gene
Publications for GATA6 Gene
- A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. (PMID: 20631719) Lin X … Chen YH (Journal of human genetics 2010) 3 4 40 72
- Identification of GATA6 sequence variants in patients with congenital heart defects. (PMID: 20581743) Maitra M … Garg V (Pediatric research 2010) 3 4 40 72
- GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. (PMID: 19666519) Kodo K … Yamagishi H (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 72
- The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals. (PMID: 8975704) Suzuki E … Walsh K (Genomics 1996) 2 3 4 22
- Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. (PMID: 22824924) Li J … Yang YQ (International journal of molecular medicine 2012) 3 4 72
ExternalLinks
Products for GATA6 Gene
- Custom Antibody ServicesOriGene Antibodies for GATA6
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- antibodies-online: Show 42 available GATA6 Antibodies ranked by validation data
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Sources for GATA6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
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- (24) DrugBank
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- (26) ASD
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- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
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- (32) SGD
- (33) FlyBase
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- (35) Pseudogene
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- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
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- (78) MaxQB
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