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Protein

Transcription factor HES-2

Gene

HES2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  • double-stranded DNA binding Source: Ensembl
  • transcription factor binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:16005. HES2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134958805.

Polymorphism and mutation databases

BioMutaiHES2.
DMDMi12643954.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 173173Transcription factor HES-2PRO_0000127206Add
BLAST

Proteomic databases

PaxDbiQ9Y543.
PeptideAtlasiQ9Y543.
PRIDEiQ9Y543.

PTM databases

PhosphoSiteiQ9Y543.

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

  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

STRINGi9606.ENSP00000367065.

Structurei

3D structure databases

ProteinModelPortaliQ9Y543.
SMRiQ9Y543. Positions 10-70.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini13 – 7058bHLHPROSITE-ProRule annotationAdd
BLAST
Domaini86 – 11934OrangePROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi170 – 1734WRPW motif

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi139 – 16729Pro-richAdd
BLAST

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

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
Contains 1 Orange domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange_dom.
[Graphical view]
PfamiPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
SM00511. ORANGE. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti139 – 1391P → S.
Corresponds to variant rs2235687 [ dbSNP | Ensembl ].
VAR_061256

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei48 – 173126NSNCS…LWRPW → DASGWHTWLPLHAQNCFLLY IQAPEQPPA in isoform 2. 1 PublicationVSP_002104Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091122 mRNA. Translation: BAG52286.1.
AL031848 Genomic DNA. Translation: CAB46198.1.
AL031848 Genomic DNA. Translation: CAB46199.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091122 mRNA. Translation: BAG52286.1.
AL031848 Genomic DNA. Translation: CAB46198.1.
AL031848 Genomic DNA. Translation: CAB46199.1.
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.

3D structure databases

ProteinModelPortaliQ9Y543.
SMRiQ9Y543. Positions 10-70.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000367065.

PTM databases

PhosphoSiteiQ9Y543.

Polymorphism and mutation databases

BioMutaiHES2.
DMDMi12643954.

Proteomic databases

PaxDbiQ9Y543.
PeptideAtlasiQ9Y543.
PRIDEiQ9Y543.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi54626.
GeneCardsiHES2.
HGNCiHGNC:16005. HES2.
HPAiHPA039462.
MIMi609970. gene.
neXtProtiNX_Q9Y543.
PharmGKBiPA134958805.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiHES2. human.
GenomeRNAii54626.
PROiQ9Y543.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000069812.
CleanExiHS_HES2.
ExpressionAtlasiQ9Y543. baseline and differential.
GenevisibleiQ9Y543. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange_dom.
[Graphical view]
PfamiPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
SM00511. ORANGE. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHES2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y543
Secondary accession number(s): A2RTZ9, Q96EN4, Q9Y542
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: September 7, 2016
This is version 140 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.