Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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
  • 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

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Notch signaling pathway, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135547-MONOMER.
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
Complete GO annotation...

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.

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

WithEntry#Exp.IntActNotes
HTTP428582EBI-750630,EBI-466029
RBPMSQ930623EBI-750630,EBI-740322
SIRT1Q96EB63EBI-750630,EBI-1802965
TRAF1Q130775EBI-750630,EBI-359224

GO - Molecular functioni

  • histone deacetylase binding Source: BHF-UCL
  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117045. 25 interactors.
IntActiQ9UBP5. 12 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
Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
Contains 1 Orange domain.PROSITE-ProRule annotation

Phylogenomic databases

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

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]

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 rs747221103dbSNPEnsembl.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 rs3734638dbSNPEnsembl.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. Translation: CAB87581.1.
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

Cross-referencesi

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. Translation: CAB87581.1.
BC007707 mRNA. Translation: AAH07707.1.
CCDSiCCDS5131.1.
RefSeqiNP_036391.1. NM_012259.2.
UniGeneiHs.144287.

3D structure databases

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

Protein-protein interaction databases

BioGridi117045. 25 interactors.
IntActiQ9UBP5. 12 interactors.
MINTiMINT-1469894.
STRINGi9606.ENSP00000357348.

PTM databases

iPTMnetiQ9UBP5.
PhosphoSitePlusiQ9UBP5.

Polymorphism and mutation databases

BioMutaiHEY2.
DMDMi74762767.

Proteomic databases

PaxDbiQ9UBP5.
PeptideAtlasiQ9UBP5.
PRIDEiQ9UBP5.

Protocols and materials databases

DNASUi23493.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi23493.
DisGeNETi23493.
GeneCardsiHEY2.
HGNCiHGNC:4881. HEY2.
HPAiHPA030205.
MIMi604674. gene.
neXtProtiNX_Q9UBP5.
OpenTargetsiENSG00000135547.
PharmGKBiPA29259.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135547-MONOMER.
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.

Miscellaneous databases

GeneWikiiHEY2.
GenomeRNAii23493.
PROiQ9UBP5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135547.
CleanExiHS_HEY2.
ExpressionAtlasiQ9UBP5. baseline and differential.
GenevisibleiQ9UBP5. 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 nameiHEY2_HUMAN
AccessioniPrimary (citable) accession number: Q9UBP5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: May 1, 2000
Last modified: November 30, 2016
This is version 138 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 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

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.