HNF4A - hepatocyte nuclear factor 4 alpha Gene
Also Known as TCF; HNF4; MODY; FRTS4; MODY1; NR2A1; TCF14; HNF4a7; HNF4a8; HNF4a9; NR2A21; TCF-14; HNF4alpha
Species: Homo sapiens
About HNF4A
This gene has 17 transcripts (splice variants), 235 orthologues, 11 paralogues and is associated with 8 phenotypes. Biased expression in duodenum (RPKM 37.7), colon (RPKM 32.8) and 7 other tissues.
Summary
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
HNF4A Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_000457.6 | NP_000448.3 | hepatocyte nuclear factor 4-alpha isoform 2 |
| NM_001030003.3 | NP_001025174.1 | hepatocyte nuclear factor 4-alpha isoform 4 |
| NM_001030004.3 | NP_001025175.1 | hepatocyte nuclear factor 4-alpha isoform 6 |
| NM_001258355.2 | NP_001245284.1 | hepatocyte nuclear factor 4-alpha isoform 7 |
| NM_001287182.2 | NP_001274111.1 | hepatocyte nuclear factor 4-alpha isoform 8 |
| NM_001287183.2 | NP_001274112.1 | hepatocyte nuclear factor 4-alpha isoform 9 |
| NM_001287184.2 | NP_001274113.1 | hepatocyte nuclear factor 4-alpha isoform 10 |
| NM_175914.5 | NP_787110.2 | hepatocyte nuclear factor 4-alpha isoform 5 |
| NM_178849.3 | NP_849180.1 | hepatocyte nuclear factor 4-alpha isoform 1 |
| NM_178850.3 | NP_849181.1 | hepatocyte nuclear factor 4-alpha isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
7615825 | GOA |
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
7615825 | GOA |
| enables fatty acid binding |
IDA
IDA: Inferred from direct assay
|
12220494 | GOA |
| enables nuclear receptor activity |
IDA
IDA: Inferred from direct assay
|
12193589 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12855700 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
12220494 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| enables signaling receptor binding |
IDA
IDA: Inferred from direct assay
|
12220494 | GOA |
| enables transcription cis-regulatory region binding |
IDA
IDA: Inferred from direct assay
|
16488887 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
14563941 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
7615825 | GOA |
HNF4A Protein Structure
zf-C4: Zinc finger, C4 type (two domains) (59 - 127)
Hormone_recep: Ligand-binding domain of nuclear hormone receptor (177 - 361)
- 0
- 100
- 200
- 300
- 400
- 474 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hepatocyte nuclear factor 4-alpha |
|
HNF4A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HNF4A | P41235 | SFPQ | Homo sapiens | P23246 | 23714182 | |
|
Intra
|
HNF4A | P41235 | TP53 | Homo sapiens | P04637 | 33961781 | |
|
Intra
|
HNF4A | P41235 | TP53 | Homo sapiens | P04637 | 35140242 | |
|
Intra
|
HNF4A | P41235 | TP53 | Homo sapiens | P04637 | 35140242 | |
|
Intra
|
HNF4A | P41235 | PROX1 | Homo sapiens | Q92786 | 16488887 | |
|
Intra
|
HNF4A | P41235 | PROX1 | Homo sapiens | Q92786 | 16488887 | |
|
Intra
|
HNF4A | P41235 | PROX1 | Homo sapiens | Q92786 | 16488887 | |
|
Intra
|
HNF4A | P41235 | SREBF2 | Homo sapiens | Q12772 | 12855700 | |
|
Intra
|
HNF4A | P41235 | NR3C1 | Homo sapiens | P04150 | 17978169 | |
|
Intra
|
HNF4A | P41235 | PPARGC1A | Homo sapiens | Q9UBK2 | 19846556 | |
|
Intra
|
HNF4A | P41235 | PPARGC1A | Homo sapiens | Q9UBK2 | 19846556 | |
|
Intra
|
HNF4A | P41235 | PPARGC1A | Homo sapiens | Q9UBK2 | 19846556 | |
|
Intra
|
HNF4A | P41235 | PPARGC1A | Homo sapiens | Q9UBK2 | 19846556 | |
|
Intra
|
HNF4A | P41235 | FOXO6 | Homo sapiens | A8MYZ6 | 23714368 | |
|
Intra
|
HNF4A | P41235 | CITED2 | Homo sapiens | Q99967 | 17932483 | |
|
Intra
|
HNF4A | P41235 | CITED2 | Homo sapiens | Q99967 | 17932483 |
HNF4A Antibodies
| Cat. No. | 상품명 | 신청 | Reactivity |
|---|---|---|---|
| HY-P81445 | HNF 4 alpha Antibody (YA1190) | WB, IHC-P, IP, ChIP | Human, Mouse, Rat |
| HY-P81445A | HNF 4 alpha Antibody (YA1190)(PBS only) | WB, IP, ChIP | Human, Mouse, Rat |
| HY-P83775 | HNF 4 alpha Antibody (YA3571) | WB, IHC-P, ICC/IF, FC | Human, Mouse, Rat |
| HY-P84307 | HNF 4 alpha Antibody (YA4004) | IHC-P, FC, ELISA | Human |
| HY-P84307A | HNF 4 alpha Antibody (YA4004)(PBS only) | IHC-P, FC, ELISA | Human |
| HY-P86160 | HNF 4 alpha Antibody (YA5852) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
|
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Hyperinsulinism Due To Hnf4a Deficiency |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Hyperinsulinism |
|
|
| Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome |
|
|
| Hyperinsulinism Due To Hnf1a Deficiency |
|
|
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
|
| Fanconi Renotubular Syndrome 4 |
|
|
| Fanconi Syndrome |
|
|
| Polycystic Liver Disease |
|
|
| Factor Vii Deficiency |
|
|
| Diabetes Mellitus |
|
|
| Hemophilia B Leyden |
|
|
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
|
| Hemophilia B |
|
|
| Cerebrotendinous Xanthomatosis |
|
|
| Hyperglycemia |
|
|
| Gestational Diabetes |
|
|
| Cholestasis |
|
|
| Colorectal Cancer |
|
|
| Familial Adenomatous Polyposis |
|
|
| Renal Cysts And Diabetes Syndrome |
|
|
| Xanthomatosis |
|
|
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
|
| Non-Alcoholic Fatty Liver Disease |
|
|
| Ureteral Obstruction |
|
|
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
|
| Hypoglycemia |
|
|
| Prediabetes Syndrome |
|
|
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
|
| Aminoaciduria |
|
|
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
|
| Liver Disease |
|
|
| Strabismus |
|
|
| Hepatoblastoma |
|
|
| Hyperinsulinemic Hypoglycemia |
|
|
| Polycystic Kidney Disease |
|
|
| Hepatocellular Carcinoma |
|
|
| Gastric Cancer |
|
|
| Neonatal Diabetes |
|
|
| Pancreatic Agenesis |
|
|
| Adult Liposarcoma |
|
|
| Desmoid Tumor |
|
|
| Permanent Neonatal Diabetes Mellitus |
|
|
| Colon Adenoma |
|
|
| Lipid Metabolism Disorder |
|
|
| Intestinal Benign Neoplasm |
|
|
| Hepatic Adenomas, Familial |
|
|
| Prostate Cancer |
|
|
| Gastrointestinal System Benign Neoplasm |
|
|
| Ovarian Cancer |
|
|
| Colonic Benign Neoplasm |
|
|
| Crigler-Najjar Syndrome, Type I |
|
|
| Lymphangioma |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | HNF4A | VGNC | VGNC:73492 |
| Canis familiaris | HNF4A | VGNC | VGNC:41725 |
| Bos taurus | HNF4A | VGNC | VGNC:29891 |
| Mus musculus | HNF4A | MGD | MGI:109128 |
| Rattus norvegicus | HNF4A | RGD | RGD:2810 |
| Felis catus | HNF4A | VGNC | VGNC:67603 |
| Others | HNF4A | NCBI |