Reviewed, UniProtKB/Swiss-Prot Q9Y543 (HES2_HUMAN)

Names and origin

Protein names

Recommended name:
    Transcription factor HES-2
Alternative name(s):
    Hairy and enhancer of split 2

Gene names

Name:

HES2

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	173 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Transcriptional repressor of genes that require a bHLH protein for their transcription By similarity.
Subcellular location	NucleusBy similarity.
Tissue specificity	Expressed in placenta, pancreatic cancer, colon cancer with RER, cervical cancer, and in head and neck tumors.
Domain	Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG). The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho, a transcriptional corepressor recruited to specific target DNA by Hairy-related proteins By similarity.
Sequence similarities	Contains 1 basic helix-loop-helix (bHLH) domain. Contains 1 Orange domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Ligand	DNA-binding
Molecular function	Repressor
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y543-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9Y543-2)

The sequence of this isoform differs from the canonical sequence as follows:
     48-173: NSNCSKLEKA...PCGPGLWRPW → DASGWHTWLPLHAQNCFLLYIQAPEQPPA

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 173	173	Transcription factor HES-2		PRO_0000127206
Regions
	Domain	27 – 71	45	Helix-loop-helix motif
	Domain	86 – 119	34	Orange
	DNA binding	13 – 26	14	Basic motif
	Motif	170 – 173	4	WRPW motif
	Compositional bias	139 – 167	29	Pro-rich
Natural variations
	Alternative sequence	48 – 173	126	NSNCS…LWRPW → DASGWHTWLPLHAQNCFLLY IQAPEQPPA in isoform 2.		VSP_002104

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: B3751F4576E84F3D	FASTA	173	18,470
	10 20 30 40 50 60 MGLPRRAGDA AELRKSLKPL LEKRRRARIN QSLSQLKGLI LPLLGRENSN CSKLEKADVL 70 80 90 100 110 120 EMTVRFLQEL PASSWPTAAP LPCDSYREGY SACVARLARV LPACRVLEPA VSARLLEHLW 130 140 150 160 170 RRAASATLDG GRAGDSSGPS APAPAPASAP EPASAPVPSP PSPPCGPGLW RPW
	Isoform 2 [UniParc]. Checksum: FED89DDDDBF56026		76	8,607
	10 20 30 40 50 60 MGLPRRAGDA AELRKSLKPL LEKRRRARIN QSLSQLKGLI LPLLGREDAS GWHTWLPLHA 70 QNCFLLYIQA PEQPPA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORMS 1 AND 2).
[2]	"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] (ISOFORM 2). Tissue: Eye.
[3]	"Identification and characterization of human HES2, HES3, and HES5 genes in silico." Katoh M., Katoh M. Int. J. Oncol. 25:529-534(2004) [PubMed: 15254753] [Abstract] Cited for: IDENTIFICATION, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AL031848 Genomic DNA. Translation: CAB46198.1. AL031848 Genomic DNA. Translation: CAB46199.1. BC012091 mRNA. Translation: AAH12091.1.
RefSeq	NP_061962.2.
UniGene	Hs.118727
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000069812. Homo sapiens. [Contig view]
GeneID	54626.
KEGG	hsa:54626.
Organism-specific databases
HGNC	HGNC:16005. HES2.
MIM	609970. gene.
PharmGKB	PA134958805.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q9Y543.
HOVERGEN	Q9Y543.
Gene expression databases
ArrayExpress	Q9Y543.
CleanEx	HS_HES2.
GermOnline	ENSG00000069812. Homo sapiens.
Family and domain databases
InterPro	IPR001092. HLH_basic. IPR003650. Orange. [Graphical view]
Pfam	PF07527. Hairy_orange. 1 hit. PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. SM00511. ORANGE. 1 hit. [Graphical view]
PROSITE	PS50888. HLH. 1 hit. PS51054. ORANGE. 1 hit. [Graphical view]
BLOCKS	Search...
ProtoNet	Search...
Other Resources
NextBio	57166.
SOURCE	Search...

Entry information

Entry name

HES2_HUMAN

Accession

Primary (citable) accession number: Q9Y543
Secondary accession number(s): Q96EN4, Q9Y542

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	November 1, 1999
Last modified:	November 4, 2008
This is version 66 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)