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This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
FOXA2 (Forkhead Box A2) is a Protein Coding gene. Diseases associated with FOXA2 include Combined Pituitary Hormone Deficiencies, Genetic Forms and Maturity-Onset Diabetes Of The Young. Among its related pathways are Regulation of beta-cell development and Hepatic ABC Transporters. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IMP | 15737987 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 12642491 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | IEA,IDA | 9931457 |
GO:0003700 | DNA-binding transcription factor activity | IDA | 9931457 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 9931457 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0030054 | cell junction | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of beta-cell development | ||
2 | Mesodermal Commitment Pathway | ||
3 | FOXA1 transcription factor network | ||
4 | Glucose / Energy Metabolism | ||
5 | PI3K / Akt Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000432 | positive regulation of transcription from RNA polymerase II promoter by glucose | ISS | -- |
GO:0001708 | cell fate specification | ISS | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IDA | 12911579 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | FOXA2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FOXA2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Foxa2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Foxa2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FOXA2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FOXA2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FOXA2 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxa2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | foxa2 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | fkh 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
CSA.7421 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
769996 | Benign: not provided | 22,581,969(-) | G/T | MISSENSE_VARIANT | |
rs1555809148 | Uncertain Significance: not provided | 22,582,382(-) | TG/T | FRAMESHIFT_VARIANT | |
rs199796119 | - | p.Ala328Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1073050 | CNV | deletion | 25765185 |
nsv1136325 | CNV | deletion | 24896259 |
nsv953003 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined pituitary hormone deficiencies, genetic forms |
|
|
maturity-onset diabetes of the young |
|
|
meckel diverticulum |
|
|
hyperinsulinemic hypoglycemia |
|
|
hepatitis c virus |
|
|