Reviewed,
UniProtKB/Swiss-Prot Q9Y261 (FOXA2_HUMAN)
Last modified
November 4, 2008.
Version 79.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Hepatocyte nuclear factor 3-beta Short name=HNF-3-beta Short name=HNF-3B Alternative name(s): Forkhead box protein A2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 457 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. |
| Subunit structure | Binds TLE1 By similarity. |
| Subcellular location | |
| Sequence similarities | Contains 1 fork-head DNA-binding domain. |
Ontologies
Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Polymorphism |
| Ligand | DNA-binding |
| Molecular function | Activator |
Gene Ontology (GO) | |
| Biological process | blood coagulation Inferred from direct assay. Source: UniProtKB regulation of specific transcription from RNA polymerase II promoterInferred from direct assay. Source: UniProtKB |
| Cellular component | nucleus Inferred by curator. Source: UniProtKB |
| Molecular function | transcription factor activity Non-traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 457 | 457 | Hepatocyte nuclear factor 3-beta | PRO_0000091795 | |||||
Regions | |||||||||
| DNA binding | 159 – 252 | 94 | Fork-head | ||||||
Natural variations | |||||||||
| Natural variant | 328 | 1 | A → V in Japanese subjects with maturity-onset diabetes of the young; pathological significance unknown. | VAR_008858 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning of cDNA and the gene encoding human hepatocyte nuclear factor (HNF)-3 beta and mutation screening in Japanese subjects with maturity-onset diabetes of the young." Yamada S., Zhu Q., Aihara Y., Onda H., Zhang Z., Yu L., Jin L., Si Y.J., Nishigori H., Tomura H., Inoue I., Morikawa A., Yamagata K., Hanafusa T., Matsuzawa Y., Takeda J. Diabetologia 43:121-124(2000) [PubMed: 10672453] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT VAL-328. Tissue: Liver. |
| [2] | "No evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3 beta gene in Japanese patients with MODY." Hinokio Y., Horikawa Y., Furuta H., Cox N.J., Iwasaki N., Honda M., Ogata M., Iwamoto Y., Bell G.I. Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "The human HNF-3 genes: cloning, partial sequence and mutation screening in patients with impaired glucose homeostasis." Navas M.A., Vaisse C., Boger S., Heimesaat M., Kollee L.A., Stoffel M. Hum. Hered. 50:370-381(2000) [PubMed: 10899756] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [4] | "The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. Rogers J.Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AB028021 mRNA. Translation: BAA78106.1. AF147787 Genomic DNA. Translation: AAD41081.1. AF176110 Genomic DNA. Translation: AAD51978.1. AL121722 Genomic DNA. Translation: CAB89773.1. BC006545 mRNA. Translation: AAH06545.2. BC011780 mRNA. Translation: AAH11780.1. BC019288 mRNA. Translation: AAH19288.1. | |
| RefSeq | NP_068556.2. NP_710141.1. |
| UniGene | Hs.155651 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1D5V based on UniProtKB Q99958. |
| SMR | Q9Y261. Positions 159-249. |
| ModBase | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000125798. Homo sapiens. [Contig view] |
| GeneID | 3170. |
| KEGG | hsa:3170. |
Organism-specific databases | |
| H-InvDB | HIX0015684. |
| HGNC | HGNC:5022. FOXA2. |
| HPA | CAB001388. |
| MIM | 600288. gene. |
| PharmGKB | PA201091. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q9Y261. |
| HOVERGEN | Q9Y261. |
Gene expression databases | |
| ArrayExpress | Q9Y261. |
| CleanEx | HS_FOXA2. |
| GermOnline | ENSG00000125798. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR013638. Fork-head_N. IPR001766. TF_Fork_head. IPR011991. Wing_hlx_DNA_bd. [Graphical view] |
| Gene3D | G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit. |
| PANTHER | PTHR11829. Fork_box_protein. 1 hit. |
| Pfam | PF00250. Fork_head. 1 hit. PF08430. Fork_head_N. 1 hit. [Graphical view] |
| PRINTS | PR00053. FORKHEAD. |
| ProDom | PD000425. TF_Fork_head. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00339. FH. 1 hit. [Graphical view] |
| PROSITE | PS00657. FORK_HEAD_1. 1 hit. PS00658. FORK_HEAD_2. 1 hit. PS50039. FORK_HEAD_3. 1 hit. [Graphical view] |
| BLOCKS | Search... |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 12568. |
| SOURCE | Search... |
Entry information
| Entry name | FOXA2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y261 Secondary accession number(s): Q8WUW4, Q96DF7 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 20 Human chromosome 20: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |

Clusters with


