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Protein

Transcription factor HES-2

Gene

HES2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Transcriptional repressor of genes that require a bHLH protein for their transcription.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor HES-2
Alternative name(s):
Class B basic helix-loop-helix protein 40
Short name:
bHLHb40
Hairy and enhancer of split 2
Gene namesi
Name:HES2
Synonyms:BHLHB40
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000069812.11
HGNCiHGNC:16005 HES2
MIMi609970 gene
neXtProtiNX_Q9Y543

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi54626
OpenTargetsiENSG00000069812
PharmGKBiPA134958805

Polymorphism and mutation databases

BioMutaiHES2
DMDMi12643954

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001272061 – 173Transcription factor HES-2Add BLAST173

Proteomic databases

PaxDbiQ9Y543
PeptideAtlasiQ9Y543
PRIDEiQ9Y543
ProteomicsDBi86285
86286 [Q9Y543-2]

PTM databases

PhosphoSitePlusiQ9Y543

Expressioni

Tissue specificityi

Expressed in placenta, pancreatic cancer, colon cancer with RER, cervical cancer, and in head and neck tumors.1 Publication

Gene expression databases

BgeeiENSG00000069812
CleanExiHS_HES2
ExpressionAtlasiQ9Y543 baseline and differential
GenevisibleiQ9Y543 HS

Organism-specific databases

HPAiHPA039462

Interactioni

Subunit structurei

Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.By similarity

GO - Molecular functioni

  • protein dimerization activity Source: InterPro
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

ELMiQ9Y543

Structurei

3D structure databases

ProteinModelPortaliQ9Y543
SMRiQ9Y543
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini13 – 70bHLHPROSITE-ProRule annotationAdd BLAST58
Domaini86 – 119OrangePROSITE-ProRule annotationAdd BLAST34

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi170 – 173WRPW motif4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi139 – 167Pro-richAdd BLAST29

Domaini

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/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.By similarity

Phylogenomic databases

eggNOGiKOG4304 Eukaryota
ENOG4111F0X LUCA
GeneTreeiENSGT00700000104168
HOGENOMiHOG000236346
HOVERGENiHBG005960
InParanoidiQ9Y543
KOiK09087
OMAiEGYSACV
OrthoDBiEOG091G0GBN
PhylomeDBiQ9Y543
TreeFamiTF351373

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR003650 Orange_dom
PfamiView protein in Pfam
PF07527 Hairy_orange, 1 hit
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00511 ORANGE, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS51054 ORANGE, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y543-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGLPRRAGDA AELRKSLKPL LEKRRRARIN QSLSQLKGLI LPLLGRENSN
60 70 80 90 100
CSKLEKADVL EMTVRFLQEL PASSWPTAAP LPCDSYREGY SACVARLARV
110 120 130 140 150
LPACRVLEPA VSARLLEHLW RRAASATLDG GRAGDSSGPS APAPAPASAP
160 170
EPASAPVPSP PSPPCGPGLW RPW
Length:173
Mass (Da):18,470
Last modified:November 1, 1999 - v1
Checksum:iB3751F4576E84F3D
GO
Isoform 2 (identifier: Q9Y543-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:76
Mass (Da):8,607
Checksum:iFED89DDDDBF56026
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061256139P → S. Corresponds to variant dbSNP:rs2235687Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00210448 – 173NSNCS…LWRPW → DASGWHTWLPLHAQNCFLLY IQAPEQPPA in isoform 2. 1 PublicationAdd BLAST126

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091122 mRNA Translation: BAG52286.1
AL031848 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71533.1
BC012091 mRNA Translation: AAH12091.1
BC132698 mRNA Translation: AAI32699.1
BC136963 mRNA Translation: AAI36964.1
BC142687 mRNA Translation: AAI42688.1
CCDSiCCDS30574.1 [Q9Y543-1]
RefSeqiNP_061962.2, NM_019089.4 [Q9Y543-1]
UniGeneiHs.118727

Genome annotation databases

EnsembliENST00000377834; ENSP00000367065; ENSG00000069812 [Q9Y543-1]
ENST00000377836; ENSP00000367067; ENSG00000069812 [Q9Y543-2]
ENST00000377837; ENSP00000367068; ENSG00000069812 [Q9Y543-2]
GeneIDi54626
KEGGihsa:54626
UCSCiuc001amw.5 human [Q9Y543-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHES2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y543
Secondary accession number(s): A2RTZ9, Q96EN4, Q9Y542
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: June 20, 2018
This is version 156 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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