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Protein

Hairy/enhancer-of-split related with YRPW motif protein 2

Gene

HEY2

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

Functioni

Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.4 Publications

GO - Molecular functioni

  • histone deacetylase binding Source: BHF-UCL
  • microsatellite binding Source: UniProtKB
  • protein heterodimerization activity Source: Ensembl
  • protein homodimerization activity Source: Ensembl
  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • sequence-specific DNA binding Source: BHF-UCL
  • transcription factor activity, protein binding Source: UniProtKB
  • transcription factor activity, RNA polymerase II core promoter sequence-specific Source: UniProtKB
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processNotch signaling pathway, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2122947. NOTCH1 Intracellular Domain Regulates Transcription.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
SIGNORiQ9UBP5.

Names & Taxonomyi

Protein namesi
Recommended name:
Hairy/enhancer-of-split related with YRPW motif protein 2
Alternative name(s):
Cardiovascular helix-loop-helix factor 1
Short name:
hCHF1
Class B basic helix-loop-helix protein 32
Short name:
bHLHb32
HES-related repressor protein 2
Hairy and enhancer of split-related protein 2
Short name:
HESR-2
Hairy-related transcription factor 2
Short name:
HRT-2
Short name:
hHRT2
Protein gridlock homolog
Gene namesi
Name:HEY2
Synonyms:BHLHB32, CHF1, GRL, HERP, HERP1, HRT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:4881. HEY2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • transcriptional repressor complex Source: BHF-UCL

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi54G → P: Impairs transcriptional repression. 1 Publication1

Organism-specific databases

DisGeNETi23493.
OpenTargetsiENSG00000135547.
PharmGKBiPA29259.

Polymorphism and mutation databases

BioMutaiHEY2.
DMDMi74762767.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002455151 – 337Hairy/enhancer-of-split related with YRPW motif protein 2Add BLAST337

Proteomic databases

PaxDbiQ9UBP5.
PeptideAtlasiQ9UBP5.
PRIDEiQ9UBP5.

PTM databases

iPTMnetiQ9UBP5.
PhosphoSitePlusiQ9UBP5.

Expressioni

Gene expression databases

BgeeiENSG00000135547.
CleanExiHS_HEY2.
ExpressionAtlasiQ9UBP5. baseline and differential.
GenevisibleiQ9UBP5. HS.

Organism-specific databases

HPAiHPA030205.
HPA074851.

Interactioni

Subunit structurei

May self-associate (By similarity). Interacts with GATA4, HES1 and HEYL (By similarity). Interacts with HDAC1, NCOR1 and SIN3A (By similarity). Interacts with ARNT and GATA6.By similarity2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • histone deacetylase binding Source: BHF-UCL
  • protein heterodimerization activity Source: Ensembl
  • protein homodimerization activity Source: Ensembl
  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117045. 25 interactors.
ELMiQ9UBP5.
IntActiQ9UBP5. 18 interactors.
MINTiMINT-1469894.
STRINGi9606.ENSP00000357348.

Structurei

3D structure databases

ProteinModelPortaliQ9UBP5.
SMRiQ9UBP5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini48 – 103bHLHPROSITE-ProRule annotationAdd BLAST56
Domaini122 – 157OrangePROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni47 – 116Transcriptional repression and interaction with NCOR1 and SIN3ABy similarityAdd BLAST70

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi327 – 330YRPW motif4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi175 – 191His-richAdd BLAST17
Compositional biasi262 – 302Ala-richAdd BLAST41

Sequence similaritiesi

Belongs to the HEY family.Curated

Phylogenomic databases

eggNOGiKOG4304. Eukaryota.
ENOG4111F0X. LUCA.
GeneTreeiENSGT00700000104130.
HOGENOMiHOG000286035.
HOVERGENiHBG003275.
InParanoidiQ9UBP5.
KOiK09091.
OMAiSTCASQR.
OrthoDBiEOG091G0HNC.
PhylomeDBiQ9UBP5.
TreeFamiTF323617.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR011598. bHLH_dom.
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.

Sequencei

Sequence statusi: Complete.

Q9UBP5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKRPCEETTS ESDMDETIDV GSENNYSGQS TSSVIRLNSP TTTSQIMARK
60 70 80 90 100
KRRGIIEKRR RDRINNSLSE LRRLVPTAFE KQGSAKLEKA EILQMTVDHL
110 120 130 140 150
KMLQATGGKG YFDAHALAMD FMSIGFRECL TEVARYLSSV EGLDSSDPLR
160 170 180 190 200
VRLVSHLSTC ATQREAAAMT SSMAHHHHPL HPHHWAAAFH HLPAALLQPN
210 220 230 240 250
GLHASESTPC RLSTTSEVPP AHGSALLTAT FAHADSALRM PSTGSVAPCV
260 270 280 290 300
PPLSTSLLSL SATVHAAAAA ATAAAHSFPL SFAGAFPMLP PNAAAAVAAA
310 320 330
TAISPPLSVS ATSSPQQTSS GTNNKPYRPW GTEVGAF
Length:337
Mass (Da):35,808
Last modified:May 1, 2000 - v1
Checksum:i71B7B1AA69BA88D2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02697496T → A in a patient with atrioventricular septal defects. 1 PublicationCorresponds to variant dbSNP:rs747221103Ensembl.1
Natural variantiVAR_02697598D → A in a patient with atrioventricular septal defects. 1 Publication1
Natural variantiVAR_026976100L → S in a patient with atrioventricular septal defects. 1 Publication1
Natural variantiVAR_026977140V → M. Corresponds to variant dbSNP:rs3734638Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ249545 mRNA. Translation: CAB56839.1.
AF237949 mRNA. Translation: AAF44781.1.
AF173901 mRNA. Translation: AAF20173.1.
AF311884 mRNA. Translation: AAG31157.1.
AF232238 mRNA. Translation: AAF37296.1.
AB044755 mRNA. Translation: BAA96781.1.
BT020067 mRNA. Translation: AAV38870.1.
BT020068 mRNA. Translation: AAV38871.1.
AL078594 Genomic DNA. No translation available.
BC007707 mRNA. Translation: AAH07707.1.
CCDSiCCDS5131.1.
RefSeqiNP_036391.1. NM_012259.2.
UniGeneiHs.144287.

Genome annotation databases

EnsembliENST00000368364; ENSP00000357348; ENSG00000135547.
GeneIDi23493.
KEGGihsa:23493.
UCSCiuc003qad.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHEY2_HUMAN
AccessioniPrimary (citable) accession number: Q9UBP5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: May 1, 2000
Last modified: August 30, 2017
This is version 144 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 6
    Human chromosome 6: 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