|
Gene id |
2627 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
GATA6 Gene UCSC Ensembl |
|
Gene name |
GATA binding protein 6 |
|
Alternate names |
transcription factor GATA-6, GATA-binding factor 6, |
|
Gene location |
18q11.2 (22169436: 22202527) Exons: 7 NC_000018.10
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
601656 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Persistent truncus arteriosus | OMIM: 601656 |
| Atrioventricular septal defect | KEGG: H00547 |
| Atrial septal defect | OMIM: 601656 |
| Tetralogy of Fallot | OMIM: 601656 |
| Adrogen body mass insulin polycystic ovary syndrome | GAD: 17070195 |
| Endometriosis | INFBASE: 24603652 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 16159937 |
| Pancreatic agenesis | OMIM: 601656 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Role in the maturation and function of testicular somatic cells | MIK: 10067876 |
| Spermatogenic defects | MIK: 31037746 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 10067876 |
Role in th
e maturati
on and fun
ction of t
esticular
somatic ce
lls
|
|
|
|
Male infertility |
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|