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Protein

Heart- and neural crest derivatives-expressed protein 2

Gene

HAND2

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

Functioni

Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the head and neck. Binds DNA on E-box consensus sequence 5'-CANNTG-3' (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processAngiogenesis, Differentiation, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-8878166 Transcriptional regulation by RUNX2
SIGNORiP61296

Names & Taxonomyi

Protein namesi
Recommended name:
Heart- and neural crest derivatives-expressed protein 2
Alternative name(s):
Class A basic helix-loop-helix protein 26
Short name:
bHLHa26
Deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2
Short name:
dHAND
Gene namesi
Name:HAND2
Synonyms:BHLHA26, DHAND
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000164107.8
HGNCiHGNC:4808 HAND2
MIMi602407 gene
neXtProtiNX_P61296

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

DisGeNETi9464
OpenTargetsiENSG00000164107
PharmGKBiPA29184

Polymorphism and mutation databases

BioMutaiHAND2
DMDMi47117699

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271911 – 217Heart- and neural crest derivatives-expressed protein 2Add BLAST217

Proteomic databases

PaxDbiP61296
PeptideAtlasiP61296
PRIDEiP61296
ProteomicsDBi57292

PTM databases

iPTMnetiP61296
PhosphoSitePlusiP61296

Expressioni

Tissue specificityi

Heart.

Developmental stagei

Expressed in the fetal heart.

Gene expression databases

BgeeiENSG00000164107 Expressed in 84 organ(s), highest expression level in muscle layer of sigmoid colon
CleanExiHS_HAND2
ExpressionAtlasiP61296 baseline and differential
GenevisibleiP61296 HS

Organism-specific databases

HPAiCAB025576
HPA019591

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Forms homodimers and heterodimers with TCF3 gene products E12 and E47, HAND1 and HEY1, HEY2 and HEYL (hairy-related transcription factors) (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
TCF4P158843EBI-10218584,EBI-533224

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114850, 15 interactors
IntActiP61296, 7 interactors
STRINGi9606.ENSP00000352565

Structurei

3D structure databases

ProteinModelPortaliP61296
SMRiP61296
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini99 – 151bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi21 – 32Poly-AlaAdd BLAST12

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000232082
HOVERGENiHBG051880
InParanoidiP61296
KOiK18486
OMAiYLMDILD
OrthoDBiEOG091G0MSL
PhylomeDBiP61296
TreeFamiTF315153

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
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P61296-1) [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
MSLVGGFPHH PVVHHEGYPF AAAAAAAAAA AASRCSHEEN PYFHGWLIGH
60 70 80 90 100
PEMSPPDYSM ALSYSPEYAS GAAGLDHSHY GGVPPGAGPP GLGGPRPVKR
110 120 130 140 150
RGTANRKERR RTQSINSAFA ELRECIPNVP ADTKLSKIKT LRLATSYIAY
160 170 180 190 200
LMDLLAKDDQ NGEAEAFKAE IKKTDVKEEK RKKELNEILK STVSSNDKKT
210
KGRTGWPQHV WALELKQ
Length:217
Mass (Da):23,666
Last modified:May 10, 2004 - v1
Checksum:i528F541BB2173F1E
GO
Isoform 2 (identifier: P61296-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     21-26: Missing.
     71-101: Missing.

Note: No experimental confirmation available.
Show »
Length:180
Mass (Da):20,269
Checksum:i94F64095EF13EE8B
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WT70A0A087WT70_HUMAN
Heart- and neural crest derivatives...
HAND2
186Annotation score:
H0YAH1H0YAH1_HUMAN
Heart- and neural crest derivatives...
HAND2
92Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05688021 – 26Missing in isoform 2. 1 Publication6
Alternative sequenceiVSP_05688171 – 101Missing in isoform 2. 1 PublicationAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF087940 mRNA Translation: AAD13185.1
AF087941 Genomic DNA Translation: AAD13186.1
FJ226608 mRNA Translation: ACI42790.1
CH471056 Genomic DNA Translation: EAX04749.1
BC101406 mRNA Translation: AAI01407.1
CCDSiCCDS3819.1 [P61296-1]
RefSeqiNP_068808.1, NM_021973.2 [P61296-1]
UniGeneiHs.388245

Genome annotation databases

EnsembliENST00000359562; ENSP00000352565; ENSG00000164107 [P61296-1]
GeneIDi9464
KEGGihsa:9464
UCSCiuc003ith.2 human [P61296-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF087940 mRNA Translation: AAD13185.1
AF087941 Genomic DNA Translation: AAD13186.1
FJ226608 mRNA Translation: ACI42790.1
CH471056 Genomic DNA Translation: EAX04749.1
BC101406 mRNA Translation: AAI01407.1
CCDSiCCDS3819.1 [P61296-1]
RefSeqiNP_068808.1, NM_021973.2 [P61296-1]
UniGeneiHs.388245

3D structure databases

ProteinModelPortaliP61296
SMRiP61296
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114850, 15 interactors
IntActiP61296, 7 interactors
STRINGi9606.ENSP00000352565

PTM databases

iPTMnetiP61296
PhosphoSitePlusiP61296

Polymorphism and mutation databases

BioMutaiHAND2
DMDMi47117699

Proteomic databases

PaxDbiP61296
PeptideAtlasiP61296
PRIDEiP61296
ProteomicsDBi57292

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359562; ENSP00000352565; ENSG00000164107 [P61296-1]
GeneIDi9464
KEGGihsa:9464
UCSCiuc003ith.2 human [P61296-1]

Organism-specific databases

CTDi9464
DisGeNETi9464
EuPathDBiHostDB:ENSG00000164107.8
GeneCardsiHAND2
HGNCiHGNC:4808 HAND2
HPAiCAB025576
HPA019591
MIMi602407 gene
neXtProtiNX_P61296
OpenTargetsiENSG00000164107
PharmGKBiPA29184
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000232082
HOVERGENiHBG051880
InParanoidiP61296
KOiK18486
OMAiYLMDILD
OrthoDBiEOG091G0MSL
PhylomeDBiP61296
TreeFamiTF315153

Enzyme and pathway databases

ReactomeiR-HSA-8878166 Transcriptional regulation by RUNX2
SIGNORiP61296

Miscellaneous databases

ChiTaRSiHAND2 human
GeneWikiiHAND2
GenomeRNAii9464
PROiPR:P61296
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164107 Expressed in 84 organ(s), highest expression level in muscle layer of sigmoid colon
CleanExiHS_HAND2
ExpressionAtlasiP61296 baseline and differential
GenevisibleiP61296 HS

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
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHAND2_HUMAN
AccessioniPrimary (citable) accession number: P61296
Secondary accession number(s): B6ECG9
, O95300, O95301, P97833, Q494T1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: May 10, 2004
Last modified: November 7, 2018
This is version 127 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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