FOXA3 (forkhead box A3)

Gene

• Entrez ID: 3171
• Gene name: Forkhead box A3
• Gene symbol: FOXA3
• Synonyms (NCBI Gene): FKHH3, HNF3G, TCF3G
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar fami

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017722	hsa-miR-335-5p	Microarray	18185580
MIRT1001480	hsa-miR-128	CLIP-seq
MIRT1001481	hsa-miR-27a	CLIP-seq
MIRT1001482	hsa-miR-27b	CLIP-seq
MIRT1001483	hsa-miR-4274	CLIP-seq
MIRT1996767	hsa-miR-1976	CLIP-seq
MIRT1996768	hsa-miR-3619-3p	CLIP-seq
MIRT1996769	hsa-miR-3690	CLIP-seq
MIRT1996770	hsa-miR-4254	CLIP-seq
MIRT1996771	hsa-miR-4279	CLIP-seq
MIRT1996772	hsa-miR-4776-5p	CLIP-seq
MIRT2230728	hsa-miR-101	CLIP-seq
MIRT1001480	hsa-miR-128	CLIP-seq
MIRT2230729	hsa-miR-1910	CLIP-seq
MIRT1001481	hsa-miR-27a	CLIP-seq
MIRT1001482	hsa-miR-27b	CLIP-seq
MIRT1001483	hsa-miR-4274	CLIP-seq
MIRT2230730	hsa-miR-4519	CLIP-seq
MIRT2449842	hsa-miR-3613-3p	CLIP-seq
MIRT2449843	hsa-miR-3941	CLIP-seq
MIRT2449844	hsa-miR-466	CLIP-seq
MIRT2449845	hsa-miR-4672	CLIP-seq
MIRT2449846	hsa-miR-4694-5p	CLIP-seq
MIRT2449847	hsa-miR-4790-3p	CLIP-seq
MIRT2449842	hsa-miR-3613-3p	CLIP-seq
MIRT2449843	hsa-miR-3941	CLIP-seq
MIRT2449844	hsa-miR-466	CLIP-seq
MIRT2449845	hsa-miR-4672	CLIP-seq
MIRT2449846	hsa-miR-4694-5p	CLIP-seq
MIRT2449847	hsa-miR-4790-3p	CLIP-seq
MIRT2449842	hsa-miR-3613-3p	CLIP-seq
MIRT2449843	hsa-miR-3941	CLIP-seq
MIRT2449844	hsa-miR-466	CLIP-seq
MIRT2449845	hsa-miR-4672	CLIP-seq
MIRT2449846	hsa-miR-4694-5p	CLIP-seq
MIRT2449847	hsa-miR-4790-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	9369482, 12695546, 18239190
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0001678	Process	Intracellular glucose homeostasis	TAS	9369482
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	12695546
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	7739897, 9369482
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7739897
GO:0005654	Component	Nucleoplasm	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12695546
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 602295
• HGNC: 5023
• e!Ensembl: ENSG00000170608

Protein

• UniProt ID: P55318
• Protein name: Hepatocyte nuclear factor 3-gamma (HNF-3-gamma) (HNF-3G) (Fork head-related protein FKH H3) (Forkhead box protein A3) (Transcription factor 3G) (TCF-3G)
• Protein function: Transcription factor that is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sit
• PDB: 1VTN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08430	Forkhead_N	16 → 116	Forkhead N-terminal region	Family
  PF00250	Forkhead	116 → 202	Forkhead domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in erythroleukemia and hepatoma cell lines and in liver and pancreas. Not expressed in any other cell lines or tissues examined. {ECO:0000269|PubMed:8499623}.
• Sequence:

  MLGSVKMEAHDLAEWSYYPEAGEVYSPVTPVPTMAPLNSYMTLNPLSSPYPPGGLPASPL
  PSGPLAPPAPAAPLGPTFPGLGVSGGSSSSGYGAPGPGLVHGKEMPKGYRRPLAHAKPPY
  SYISLITMAIQQAPGKMLTLSEIYQWIMDLFPYYRENQQRWQNSIRHSLSFNDCFVKVAR
  SPDKPGKGSYWALHPSSGNMFENGCYLRRQKRFKLEEKVKKGGSGAATTTRNGTGSAAST
  TTPAATVTSPPQPPPPAPEPEAQGGEDVGALDCGSPASSTPYFTGLELPGELKLDAPYNF
  NHPFSINNLMSEQTPAPPKLDVGFGGYGAEGGEPGVYYQGLYSRSLLNAS

• Sequence length: 350

Pathways

KEGG:

Maturity onset diabetes of the young

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOXA3-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Valve Calcification of	Aortic valve disease	Pubtator	35625529	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31291759		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35347136	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	31291759		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	35625529	Inhibit	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	30944629		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	28358366		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	34473308	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35764883	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30415009		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	32151057	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	28358366		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of testosterone biosynthesis	Deficiency Of Testosterone Biosynthesis	BEFREE	28645613		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28645613		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30944629		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30944629		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28358366		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	33368532	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35764883	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	35625529	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30560924		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19759516		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30944629		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30415009		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	22919386		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30415009, 30944629		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24798046		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31291759		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	22919386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only