FOXA2 - forkhead box A2 Gene

Also Known as HNF3B; TCF3B; HNF-3-beta

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3170

About FOXA2

Cytogenetic location: 20p11.21 Genomic coordinates (GRCh38): 20:22,580,998-22,585,490 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FOXA2 Protein Structure

Forkhead_N

Forkhead_N: Forkhead N-terminal region (17 - 158)

Forkhead

Forkhead: Forkhead domain (159 - 254)

HNF_C

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

  • forkhead box protein A2

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
  • Congenital Hypopituitarism

  • Pituitary Hormone Deficiency, Combined 1

  • Congenital Combined Pituitary Hormone Deficiency

  • Non-Acquired Combined Pituitary Hormone Deficiency

  • Cphd1

  • Familial Congenital Hypopituitarism

  • Multiple Pituitary Hormone Deficiencies, Genetic Forms

  • Combined Pituitary Hormone Deficiencies, Genetic Form

  • Hormone Deficiency, Pituitary, Combined, Type 1

Maturity-Onset Diabetes Of The Young
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

Hypopituitarism
  • Pituitary Hypofunction

  • Pituitary Insufficiency

  • Pituitary Hormone Deficiency

  • Subpituitarism

  • Hypophyseal Dystrophy

  • Hypohypophysism

  • Anterior Pituitary Insufficiency

  • Deficient Secretion Of One Or More Pituitary Hormones

  • Hypopituitarism Syndrome

  • Pituitary Deficiency

  • Pituitary Failure

  • Pituitary Insufficiency Nos

  • Anterior Pituitary Hypofunction

  • Deficient Secretion Of All Pituitary Hormones

  • Hypopituitary Dwarfism

  • Hyposomatotropic Dwarfism

  • Hypophyseal Dwarfism

  • Hypopituitary Cachexia

  • Hypophyseal Short Stature

  • Panhypopituitarism Syndrome

  • Pituitary Cachexia

  • Juvenile Hypopituitarism

  • Pituitary Dwarfism

  • Pituitary Gland Hypofunction

  • Primary Hypopituitarism

  • Secondary Hypogonadism

  • Prepubertal Panhypopituitarism

  • Prepubertal Dwarfism

  • Postpartum Panhypopituitary Syndrome

  • Postpartum Hypopituitarism

  • Pituitary Short Stature

  • Pituitary Infantilism

  • Pituitary Hypogonadism

  • Pituitary Hypoadrenocorticism

Hyperinsulinism
  • Hyperinsulinemia

Uterine Corpus Endometrial Carcinoma
Pancreatic Agenesis
  • Partial Pancreatic Agenesis

  • Congenital Pancreatic Agenesis

  • Partial Agenesis Of The Pancreas

  • Agenesis, Pancreatic

  • Pancreatic Agenesis, Congenital

Germ Cell And Embryonal Cancer
  • Germ Cell And Embryonal Neoplasm

Arthrogryposis, Distal, Type 1a
  • Distal Arthrogryposis Type 1

  • Digitotalar Dysmorphism

  • DA1A

  • Da1

  • Amcd1

  • Arthrogryposis, Distal, Type 2b4

  • Distal Arthrogryposis Type 1a

  • Arthrogryposis, Distal, Type 1

  • Arthrogryposis Multiplex Congenita Distal Type 1

  • Arthrogryposis Multiplex Congenita, Distal Type 1

  • Arthrogryposis Multiplex Congenita, Distal, Type I

  • Distal Arthrogryposis Type 1b

  • Arthrogryposis, Distal, 1a

  • Amc

  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis, Distal, 2b4

  • DA2B4

  • Arthrogryposis Multiplex Congenita, Distal, Type 1

  • Arthrogryposis

Hyperinsulinemic Hypoglycemia
  • Nesidioblastosis

  • Islet Cell Hyperplasia

  • Persistent Hyperinsulinemia Hypoglycemia Of Infancy

  • Hyperinsulinemic Hypoglycaemia

Germ Cell Cancer
  • Malignant Germ Cell Tumor

  • Neoplasms, Germ Cell And Embryonal

  • Germ Cell Neoplasm

  • Germ Cell Tumour

  • Malignant Tumor Of The Germ Cell

  • Neoplasms Germ Cell

  • Malignant Germ Cell Neoplasm

Permanent Neonatal Diabetes Mellitus
  • Pndm

  • Permanent Diabetes Mellitus Of Infancy

  • Pdmi

  • Neonatal Diabetes Mellitus, Permanent

Maturity-Onset Diabetes Of The Young, Type 3
  • Maturity-Onset Diabetes Of The Young Type 3

  • MODY3

  • Mody, Type Iii

  • Mody Type 3

  • Mody, Type 3

  • Maturity-Onset Diabetes Of The Young 3

  • Mody-3

  • Diabetes Of The Young, Maturity-Onset, Type 3

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Diabetes Mellitus
  • Diabetes

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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