Aliases for GATA6 Gene
Aliases for GATA6 Gene
External Ids for GATA6 Gene
- HGNC: 4174
- Entrez Gene: 2627
- Ensembl: ENSG00000141448
- OMIM: 601656
- UniProtKB: 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 Transcriptional Regulatory Network in Embryonic Stem Cell and G-AlphaQ Signaling. 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 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).
Additional gene information for GATA6 Gene
- Monarch Initiative
- Search for GATA6 at DataMed
- Search for GATA6 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATA6 Gene
Genomics for GATA6 Gene
GeneHancer (GH) Regulatory Elements for GATA6 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GATA6 gene promoter:
-
- Nkx2-5
- C/EBPalpha
- AREB6
Regulatory Element Products
Genomic Locations for GATA6 Gene
Genomic Locations for GATA6 Gene
- chr18:22,169,437-22,202,528
- (GRCh38/hg38)
- Size:
- 33,092 bases
- Orientation:
- Plus strand
- chr18:19,749,404-19,782,491
- (GRCh37/hg19)
- Size:
- 33,088 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 Entrez Gene
- 18q11.2 by HGNC
- 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.
Protein Expression for GATA6 Gene
Post-translational modifications for GATA6 Gene
Other Protein References for GATA6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for GATA6 (GATA-6)
- Novus Biologicals Antibodies for GATA6
-
Abcam antibodies for GATA6
- Invitrogen Antibodies for GATA6 (AFLGC-GATA6)
- GeneTex GATA6 Antibody for GATA6
-
Santa Cruz Biotechnology (SCBT) Antibodies for GATA6
Protein Products
-
OriGene Purified Proteins for GATA6
- Search Origene for MassSpec and Protein Over-expression Lysates for GATA6
- Origene Custom Protein Services for GATA6
- antibodies-online: Search results for 6 available GATA6 Proteins ranked by validation data
- Compare Top GATA6 Proteins
-
Quality Products:
- Search GeneTex for Proteins for GATA6
-
Abcam proteins for GATA6
Assay Products
- antibodies-online: Search results for 4 available GATA6 Elisa Kits ranked by validation data
- Compare Top GATA6 Elisa Kits
-
Quality Products:
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for GATA6 Gene
- GenScript: Design optimal peptide antigens:
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).
- 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:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | IMP,NAS | 19274049 |
| GO:0001085 | RNA polymerase II transcription factor binding | IBA | -- |
| GO:0001103 | RNA polymerase II repressing transcription factor binding | IEA | -- |
Phenotypes for GATA6 Gene
- MGI mutant phenotypes for GATA6:
-
inferred from 11 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- homeostasis/metabolism phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- embryo phenotype
- normal phenotype
- hematopoietic system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for GATA6:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Synthetic lethal with Ras
- shRNA abundance <= 50%
- Increased viability
- Increased transferrin (TF) endocytosis
- Decreased Salmonella proliferation
Animal Models for GATA6 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for GATA6
-
CRISPR Products
-
OriGene CRISPR knockouts for GATA6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GATA6
- genomics-online: gRNA clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
- Applied Biological Materials CRISPR for GATA6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GATA6
- GenScript: Design CRISPR guide RNA sequences 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)
- hsa-mir-200a-3p (MIRT004006)
- hsa-mir-1-3p (MIRT005905)
- 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)
- 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
Clone Products
- 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
- Applied Biological Materials Clones for GATA6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
| extracellular | 2 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 1 |
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 9566909 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IBA | -- |
| GO:0031965 | nuclear membrane | IDA | -- |
Pathways & Interactions for GATA6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mesodermal Commitment Pathway | ||
| 2 | NF-kappaB Signaling | ||
| 3 | BMP Pathway |
.44
|
|
| 4 | G-AlphaQ Signaling | ||
| 5 | 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
1 Cell Signaling Technology pathway for GATA6 Gene
Interacting Proteins for GATA6 Gene
Selected Interacting proteins:
ENSP00000269216
Q92908-GATA6_HUMAN
for GATA6 Gene via
STRING
MINT
IID
GPS-Prot Interaction Network for GATA6
| 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:0003148 | outflow tract septum morphogenesis | IMP | 19666519 |
| GO:0003309 | type B pancreatic cell differentiation | IEA | -- |
No data available for SIGNOR curated interactions for GATA6 Gene
Transcripts for GATA6 Gene
mRNA/cDNA for GATA6 Gene
- (1) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (56) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000269216 3770 bps (uc002ktt.2)
- ENST00000581694 2057 bps (uc002ktu.3)
Unigene Clusters for GATA6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GATA6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GATA6
- genomics-online: gRNA clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
- Applied Biological Materials CRISPR for GATA6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GATA6
- GenScript: Design CRISPR guide RNA sequences for GATA6
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
Clone Products
- 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
- Applied Biological Materials Clones for GATA6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of GATA6 Gene:
GATA6SOURCE 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.
Evidence on tissue expression from TISSUES for GATA6 Gene
- Heart(4.6)
- Muscle(2.7)
- Stomach(2.6)
- Adrenal gland(2.5)
- Lung(2.2)
- Intestine(2)
- Pancreas(2)
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
-
OriGene qPCR primer pairs for GATA6
- genomics-online: primer clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GATA6 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GATA6 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Gata6 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gata6 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GATA6 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GATA6 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GATA6 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GATA6 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gata6 33 |
|
||
| pnr 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | gata-6 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gata6 34 33 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | grn 35 |
|
|
|
| pnr 34 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | elt-1 35 |
|
|
|
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GZF3 36 |
|
|
- Species where no ortholog for GATA6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Paralogs for GATA6 Gene
Variants for GATA6 Gene
| SNP ID | Clin | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1014349671 | likely-benign, Atrioventricular septal defect 5 | 22,171,999(+) | G/T | coding_sequence_variant, synonymous_variant | |
| rs1024528816 | likely-benign, Atrioventricular septal defect 5 | 22,171,894(+) | C/A/G/T | coding_sequence_variant, synonymous_variant | |
| rs1051642564 | likely-benign, Atrioventricular septal defect 5 | 22,171,771(+) | C/A | coding_sequence_variant, synonymous_variant | |
| rs1060503826 | likely-benign, Atrioventricular septal defect 5 | 22,172,044(+) | G/C | coding_sequence_variant, synonymous_variant | |
| rs116262672 | benign, likely-benign, not specified, Monogenic diabetes, Atrioventricular septal defect 5 | 22,171,187(+) | G/A/C | coding_sequence_variant, missense_variant |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATA6 Gene
Disorders for GATA6 Gene
(25) MalaCards diseases for GATA6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| 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 mutations 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 mutations 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 mutations 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 mutations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for GATA6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for GATA6 Gene
Publications for GATA6 Gene
- 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 58
- Identification of GATA6 sequence variants in patients with congenital heart defects. (PMID: 20581743) Maitra M … Garg V (Pediatric research 2010) 3 4 44 58
- 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 44 58
- 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 58
- A conserved role for a GATA transcription factor in regulating epithelial innate immune responses. (PMID: 16968778) Shapira M … Tan MW (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 58
Products for GATA6 Gene
- R&D Systems Antibodies for GATA6 (GATA-6)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for GATA6
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GATA6
- Search Origene for MassSpec and Protein Over-expression Lysates for GATA6
- Origene Custom Protein Services for GATA6
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GATA6
- Browse OriGene Inhibitory RNA Products For GATA6
- OriGene qPCR primer pairs for GATA6
- OriGene CRISPR knockouts for GATA6
- OriGene ORF clones in human for GATA6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GATA6
- GenScript: Next-day shipping of latest version cDNA ORF clones for GATA6 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for GATA6
- GenScript Custom Assay Services for GATA6
- GenScript Custom overexpressing Cell Line Services for GATA6
- GenScript: Design CRISPR guide RNA sequences for GATA6
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for GATA6
- Sino Biological Human cDNA Clone for GATA6
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GATA6
- Novus Biologicals lysates and proteins for GATA6
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for GATA6
- Abcam proteins for GATA6
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for GATA6 (AFLGC-GATA6)
- Cyagen custom Knockout/knockin (KOKI) mouse models for GATA6
- Addgene plasmids for GATA6
- antibodies-online: Search results for available GATA6 related products ranked by validation data
- antibodies-online: Search results for 4 available GATA6 Elisa Kits ranked by validation data
- Compare Top GATA6 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 6 available GATA6 Proteins ranked by validation data
- Compare Top GATA6 Proteins
- Quality Products:
- GeneTex GATA6 Antibody for GATA6
- Search GeneTex for Proteins for GATA6
- Santa Cruz Biotechnology (SCBT) Antibodies for GATA6
- Search Santa Cruz Biotechnology (SCBT) for GATA6 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GATA6
- Horizon Cell Lines for GATA6
- genomics-online: cdna clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
- orf clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
- genomics-online: gRNA clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
- genomics-online: primer clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
- genomics-online: shRNA clones - Search results for 73 available GATA6 gene related products
- Overview of 73 available GATA6 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GATA6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GATA6
- GeneCopoeia miRNA 3'UTR Target clone products for GATA6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATA6
Sources for GATA6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt