Gene
hnf4a
- ID
- ZDB-GENE-030131-1077
- Name
- hepatocyte nuclear factor 4, alpha
- Symbol
- hnf4a Nomenclature History
- Previous Names
-
- fb58h09
- id:ibd1279
- NR2A1 (1)
- sb:eu665
- wu:fb58h09
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Exhibits DNA-binding transcription factor activity. Involved in pancreas regeneration; response to bacterium; and type B pancreatic cell development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Fanconi syndrome; familial combined hyperlipidemia; hypoglycemia; maturity-onset diabetes of the young type 1; and type 2 diabetes mellitus. Is expressed in gut; intestinal bulb primordium; liver; pleuroperitoneal region; and yolk syncytial layer. Orthologous to human HNF4A (hepatocyte nuclear factor 4 alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 54 figures from 27 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu665 (4 images)
- af473824 (14 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Fanconi renotubular syndrome 4 | Alliance | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | 616026 |
| maturity-onset diabetes of the young type 1 | Alliance | MODY, type I | 125850 |
| type 2 diabetes mellitus | Alliance | {Diabetes mellitus, noninsulin-dependent} | 125853 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000536 | Nuclear hormone receptor, ligand-binding domain |
| Domain | IPR001628 | Zinc finger, nuclear hormone receptor-type |
| Domain | IPR049635 | Hepatocyte nuclear factor 4, ligand-binding domain |
| Domain | IPR049636 | Hepatocyte nuclear factor 4-like, DNA-binding domain |
| Family | IPR001723 | Nuclear hormone receptor |
| Family | IPR050274 | Nuclear hormone receptor family NR2 subfamily |
| Homologous_superfamily | IPR013088 | Zinc finger, NHR/GATA-type |
| Homologous_superfamily | IPR035500 | Nuclear hormone receptor-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Hepatocyte nuclear factor 4, ligand-binding domain | Hepatocyte nuclear factor 4-like, DNA-binding domain | Nuclear hormone receptor | Nuclear hormone receptor family NR2 subfamily | Nuclear hormone receptor, ligand-binding domain | Nuclear hormone receptor-like domain superfamily | Zinc finger, NHR/GATA-type | Zinc finger, nuclear hormone receptor-type |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PKL5
|
446 | ||||||||
|
UniProtKB:A0A8M9P510
|
435 | ||||||||
|
UniProtKB:A0A8M9PEX6
|
470 | ||||||||
|
UniProtKB:A0A8M9PSX4
|
440 | ||||||||
|
UniProtKB:Q8AXB6
|
454 | ||||||||
|
UniProtKB:A8E5K2
|
427 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
hnf4a-202
(1)
|
Ensembl | 1,732 nt | ||
| mRNA |
hnf4a-201
(1)
|
Ensembl | 3,268 nt | ||
| mRNA |
hnf4a-204
(1)
|
Ensembl | 850 nt | ||
| mRNA |
hnf4a-206
(1)
|
Ensembl | 3,523 nt | ||
| ncRNA |
hnf4a-003
(1)
|
Ensembl | 339 nt | ||
| ncRNA |
hnf4a-004
(1)
|
Ensembl | 732 nt |
Interactions and Pathways
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| ab1-hnf4a | polyclonal | IgG | Goat |
|
Santa Cruz Biotechnology, Inc.
|
15 |
Plasmids
No data available