Reviewed, UniProtKB/Swiss-Prot Q9Y261 (FOXA2_HUMAN)

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

Name:	FOXA2
Synonyms:	HNF3B, TCF3B

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	Nucleus.
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 promoter Inferred 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

	Sequence		Length	Mass (Da)
	Q9Y261-1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 61DDE4C75C70680A	FASTA	457	48,306
	10 20 30 40 50 60 MLGAVKMEGH EPSDWSSYYA EPEGYSSVSN MNAGLGMNGM NTYMSMSAAA MGSGSGNMSA 70 80 90 100 110 120 GSMNMSSYVG AGMSPSLAGM SPGAGAMAGM GGSAGAAGVA GMGPHLSPSL SPLGGQAAGA 130 140 150 160 170 180 MGGLAPYANM NSMSPMYGQA GLSRARDPKT YRRSYTHAKP PYSYISLITM AIQQSPNKML 190 200 210 220 230 240 TLSEIYQWIM DLFPFYRQNQ QRWQNSIRHS LSFNDCFLKV PRSPDKPGKG SFWTLHPDSG 250 260 270 280 290 300 NMFENGCYLR RQKRFKCEKQ LALKEAAGAA GSGKKAAAGA QASQAQLGEA AGPASETPAG 310 320 330 340 350 360 TESPHSSASP CQEHKRGGLG ELKGTPAAAL SPPEPAPSPG QQQQAAAHLL GPPHHPGLPP 370 380 390 400 410 420 EAHLKPEHHY AFNHPFSINN LMSSEQQHHH SHHHHQPHKM DLKAYEQVMH YPGYGSPMPG 430 440 450 SLAMGPVTNK TGLDASPLAA DTSYYQGVYS RPIMNSS

References

	« Hide 'large scale' referencesShow '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. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., 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.

Web resources

Wikipedia

Hepatocyte nuclear factors entry

Cross-references

Sequence databases
EMBLGenBankDDBJ	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

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	November 1, 1999
Last modified:	November 4, 2008
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)