FOXA2 - forkhead box A2 Gene

Homo sapiens

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

Gene ID: 3170 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

HNF_C

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	WB, IHC-P	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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05037	FOXA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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