FOXA2 (forkhead box A2)

Gene

• Entrez ID: 3170
• Gene name: Forkhead box A2
• Gene symbol: FOXA2
• Synonyms: HNF-3-beta, HNF3B, TCF3B
• Chromosome: 20
• Chromosome location: 20p11.21
• 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 mem

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017120	hsa-miR-335-5p	Microarray	18185580
MIRT017120	hsa-miR-335-5p	Luciferase reporter assay, qRT-PCR, Western blot	24449834
MIRT017120	hsa-miR-335-5p	Luciferase reporter assay, qRT-PCR, Western blot	24449834
MIRT440616	hsa-miR-1185-2-3p	HITS-CLIP	24374217
MIRT440617	hsa-miR-1185-1-3p	HITS-CLIP	24374217
MIRT440616	hsa-miR-1185-2-3p	HITS-CLIP	24374217
MIRT440617	hsa-miR-1185-1-3p	HITS-CLIP	24374217
MIRT755518	hsa-miR-1290	PAR-CLIP	27292025
MIRT755518	hsa-miR-1290	Luciferase reporter assay, Western blotting, qRT-PCR	35589002
MIRT755524	hsa-miR-1246	Luciferase reporter assay, Western blotting, qRT-PCR	35589002
MIRT2388117	hsa-miR-4287	CLIP-seq
MIRT2388118	hsa-miR-4469	CLIP-seq
MIRT2388119	hsa-miR-4659a-3p	CLIP-seq
MIRT2388120	hsa-miR-4659b-3p	CLIP-seq
MIRT2388121	hsa-miR-4685-3p	CLIP-seq
MIRT2388122	hsa-miR-4713-5p	CLIP-seq
MIRT2388123	hsa-miR-4780	CLIP-seq
MIRT2388124	hsa-miR-593	CLIP-seq
MIRT2388125	hsa-miR-623	CLIP-seq
MIRT2388126	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GLI2	Unknown	19360354
SMAD3	Unknown	21625455
USF1	Activation	22460558

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000432	Process	Positive regulation of transcription from RNA polymerase II promoter by glucose	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IMP	15737987
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12642491
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001708	Process	Cell fate specification	ISS
GO:0003677	Function	DNA binding	IDA	9931457
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9931457, 12124776, 12911579
GO:0005634	Component	Nucleus	IDA	9931457, 20160041, 24399192
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	12911579
GO:0008134	Function	Transcription factor binding	IEA
GO:0008344	Process	Adult locomotory behavior	ISS
GO:0009653	Process	Anatomical structure morphogenesis	IBA	21873635
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IMP	20160041
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030193	Process	Regulation of blood coagulation	IDA	12911579
GO:0031018	Process	Endocrine pancreas development	IDA	12124776
GO:0033132	Process	Negative regulation of glucokinase activity	ISS
GO:0040019	Process	Positive regulation of embryonic development	ISS
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IMP	12642491
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	9931457
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12124776, 20160041
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	24431302
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	ISS
GO:0061987	Process	Negative regulation of transcription from RNA polymerase II promoter by glucose	ISS
GO:0070741	Process	Response to interleukin-6	TAS	15737987
GO:0071542	Process	Dopaminergic neuron differentiation	IGI	19951692
GO:0071542	Process	Dopaminergic neuron differentiation	ISS
GO:0071542	Process	Dopaminergic neuron differentiation	TAS	24431302
GO:0090009	Process	Primitive streak formation	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000049	Process	Positive regulation of cell-cell adhesion mediated by cadherin	IC	20160041
GO:2000543	Process	Positive regulation of gastrulation	ISS
GO:2000971	Process	Negative regulation of detection of glucose	ISS

Other IDs

• MIM: 600288
• HGNC: 5022
• e!Ensembl: ENSG00000125798

Protein

• UniProt ID: Q9Y261
• Protein name: Hepatocyte nuclear factor 3-beta (HNF-3-beta) (HNF-3B) (Forkhead box protein A2) (Transcription factor 3B) (TCF-3B)
• Protein function: Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin
• PDB: 5X07, 7YZE, 7YZF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08430	Forkhead_N	16 → 158	Forkhead N-terminal region	Family
  PF00250	Forkhead	158 → 244	Forkhead domain	Domain
  PF09354	HNF_C	373 → 446	HNF3 C-terminal domain	Domain

• Sequence:

  MLGAVKMEGHEPSDWSSYYAEPEGYSSVSNMNAGLGMNGMNTYMSMSAAAMGSGSGNMSA
  GSMNMSSYVGAGMSPSLAGMSPGAGAMAGMGGSAGAAGVAGMGPHLSPSLSPLGGQAAGA
  MGGLAPYANMNSMSPMYGQAGLSRARDPKTYRRSYTHAKPPYSYISLITMAIQQSPNKML
  TLSEIYQWIMDLFPFYRQNQQRWQNSIRHSLSFNDCFLKVPRSPDKPGKGSFWTLHPDSG
  NMFENGCYLRRQKRFKCEKQLALKEAAGAAGSGKKAAAGAQASQAQLGEAAGPASETPAG
  TESPHSSASPCQEHKRGGLGELKGTPAAALSPPEPAPSPGQQQQAAAHLLGPPHHPGLPP
  EAHLKPEHHYAFNHPFSINNLMSSEQQHHHSHHHHQPHKMDLKAYEQVMHYPGYGSPMPG
  SLAMGPVTNKTGLDASPLAADTSYYQGVYSRPIMNSS

• Sequence length: 457

Pathways

KEGG:

Longevity regulating pathway - multiple species
Maturity onset diabetes of the young

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hyperinsulinemic hypoglycemia	Congenital Hyperinsulinism	rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402, rs980458021, rs375717077, rs786200932, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs151344624, rs797045637, rs797045212, rs797045211, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs886039877, rs886041392, rs886041391, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs766891274, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1398546361, rs781617345	29329447
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180	28973288
Pituitary hormone deficiency	Combined pituitary hormone deficiencies, genetic forms	rs104893754, rs104893756, rs104893757, rs104893759, rs104893760, rs104893761, rs104893762, rs587776798, rs104893758, rs104893763, rs104893764, rs104893765, rs587776799, rs104893766, rs370761964, rs515726221, rs606231411, rs772390221, rs754584667, rs777223697, rs777833871, rs1559614730

Unknown
Disease name	Disease term	dbSNP ID	References
Hypopituitarism	Hypopituitarism		28973288
Lung diseases	Lung diseases		16863852