FOXA2 - forkhead box A2 Gene
Also Known as HNF3B; TCF3B; HNF-3-beta
Species: Homo sapiens
About FOXA2
This gene has 2 transcripts (splice variants), 198 orthologues, 42 paralogues and is associated with 1 phenotype. Biased expression in stomach (RPKM 15.2), lung (RPKM 9.0) and 8 other tissues.
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_021784.5 | NP_068556.2 | hepatocyte nuclear factor 3-beta isoform 1 |
| NM_153675.3 | NP_710141.1 | hepatocyte nuclear factor 3-beta isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
9931457 | GOA |
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
9931457 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
12642491 | GOA |
| enables nucleic acid binding |
EXP
EXP: Inferred from Experiment
|
28644006 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| enables transcription cis-regulatory region binding |
IMP
IMP: Inferred from mutant phenotype
|
15737987 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in dopaminergic neuron differentiation |
IGI
IGI: Inferred from genetic interaction
|
19951692 | GOA |
| involved in endocrine pancreas development |
IDA
IDA: Inferred from direct assay
|
12124776 | GOA |
| involved in negative regulation of DNA-binding transcription factor activity |
IMP
IMP: Inferred from mutant phenotype
|
12642491 | GOA |
| involved in negative regulation of epithelial to mesenchymal transition |
IMP
IMP: Inferred from mutant phenotype
|
20160041 | GOA |
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
9931457 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
12124776 | GOA |
| involved in regulation of blood coagulation |
IDA
IDA: Inferred from direct assay
|
12911579 | GOA |
| involved in regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
12911579 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
9931457 | GOA |
FOXA2 Protein Structure
Forkhead_N: Forkhead N-terminal region (17 - 158)
Forkhead: Forkhead domain (159 - 254)
HNF_C: HNF3 C-terminal domain (373 - 446)
- 0
- 100
- 200
- 300
- 400
- 457 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hepatocyte nuclear factor 3-beta |
|
FOXA2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80974 | FoxA2 Antibody (YA849) | WB, IHC-P | Human |
| HY-P85171 | FoxA2 Antibody (YA4863) | WB, IHC-P, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Hypopituitarism |
|
|
| Hyperinsulinism |
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Pancreatic Agenesis |
|
|
| Germ Cell And Embryonal Cancer |
|
|
| Arthrogryposis, Distal, Type 1a |
|
|
| Hyperinsulinemic Hypoglycemia |
|
|
| Germ Cell Cancer |
|
|
| Permanent Neonatal Diabetes Mellitus |
|
|
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Diabetes Mellitus |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | FOXA2 | VGNC | VGNC:72708 |
| Felis catus | FOXA2 | VGNC | VGNC:67601 |
| Canis familiaris | FOXA2 | VGNC | VGNC:40944 |
| Rattus norvegicus | FOXA2 | RGD | RGD:2808 |
| Mus musculus | FOXA2 | MGD | MGI:1347476 |
| Bos taurus | FOXA2 | VGNC | VGNC:29078 |
| Others | FOXA2 | NCBI |