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P61296

- HAND2_HUMAN

UniProt

P61296 - HAND2_HUMAN

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Protein

Heart- and neural crest derivatives-expressed protein 2

Gene

HAND2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. activating transcription factor binding Source: BHF-UCL
  2. AT DNA binding Source: UniProtKB
  3. E-box binding Source: UniProtKB
  4. protein homodimerization activity Source: BHF-UCL
  5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB
  6. RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
  7. transcription coactivator activity Source: BHF-UCL
  8. transcription factor binding Source: BHF-UCL

GO - Biological processi

  1. adult heart development Source: BHF-UCL
  2. angiogenesis Source: UniProtKB-KW
  3. apoptotic process Source: BHF-UCL
  4. apoptotic process involved in heart morphogenesis Source: Ensembl
  5. cardiac neural crest cell development involved in outflow tract morphogenesis Source: BHF-UCL
  6. cardiac neural crest cell migration involved in outflow tract morphogenesis Source: Ensembl
  7. cardiac right ventricle formation Source: Ensembl
  8. cartilage morphogenesis Source: Ensembl
  9. cell proliferation involved in outflow tract morphogenesis Source: Ensembl
  10. coronary artery morphogenesis Source: Ensembl
  11. embryonic digit morphogenesis Source: Ensembl
  12. heart development Source: UniProtKB
  13. heart looping Source: BHF-UCL
  14. heart morphogenesis Source: BHF-UCL
  15. in utero embryonic development Source: BHF-UCL
  16. mesenchymal cell proliferation Source: Ensembl
  17. negative regulation of cardiac muscle cell apoptotic process Source: BHF-UCL
  18. negative regulation of DNA binding Source: Ensembl
  19. negative regulation of osteoblast differentiation Source: Ensembl
  20. negative regulation of sequence-specific DNA binding transcription factor activity Source: Ensembl
  21. neural crest cell development Source: BHF-UCL
  22. noradrenergic neuron differentiation Source: BHF-UCL
  23. odontogenesis of dentin-containing tooth Source: Ensembl
  24. palate development Source: Ensembl
  25. peripheral nervous system neuron development Source: Ensembl
  26. positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis Source: BHF-UCL
  27. positive regulation of transcription, DNA-templated Source: BHF-UCL
  28. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  29. positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process Source: BHF-UCL
  30. positive regulation of transcription regulatory region DNA binding Source: BHF-UCL
  31. regulation of secondary heart field cardioblast proliferation Source: BHF-UCL
  32. regulation of transcription, DNA-templated Source: BHF-UCL
  33. suckling behavior Source: Ensembl
  34. sympathetic nervous system development Source: Ensembl
  35. thymus development Source: BHF-UCL
  36. tongue development Source: Ensembl
  37. visceral serous pericardium development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Angiogenesis, Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:4808. HAND2.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nuclear chromatin Source: BHF-UCL
  2. protein complex Source: UniProtKB
  3. transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29184.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 217217Heart- and neural crest derivatives-expressed protein 2PRO_0000127191Add
BLAST

Proteomic databases

PaxDbiP61296.
PRIDEiP61296.

PTM databases

PhosphoSiteiP61296.

Expressioni

Tissue specificityi

Heart.

Developmental stagei

Expressed in the fetal heart.

Gene expression databases

BgeeiP61296.
CleanExiHS_HAND2.
ExpressionAtlasiP61296. baseline and differential.
GenevestigatoriP61296.

Organism-specific databases

HPAiCAB025576.

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

Protein-protein interaction databases

BioGridi114850. 13 interactions.
STRINGi9606.ENSP00000352565.

Structurei

3D structure databases

ProteinModelPortaliP61296.
SMRiP61296. Positions 94-155.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini99 – 15153bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi21 – 3212Poly-AlaAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG259520.
GeneTreeiENSGT00760000119097.
HOGENOMiHOG000232082.
HOVERGENiHBG051880.
InParanoidiP61296.
KOiK18486.
OMAiATRCGHE.
PhylomeDBiP61296.
TreeFamiTF315153.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei21 – 266Missing in isoform 2. 1 PublicationVSP_056880
Alternative sequencei71 – 10131Missing in isoform 2. 1 PublicationVSP_056881Add
BLAST

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.
RefSeqiNP_068808.1. NM_021973.2.
UniGeneiHs.388245.

Genome annotation databases

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

Polymorphism databases

DMDMi47117699.

Keywords - Coding sequence diversityi

Alternative splicing

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 .
CCDSi CCDS3819.1.
RefSeqi NP_068808.1. NM_021973.2.
UniGenei Hs.388245.

3D structure databases

ProteinModelPortali P61296.
SMRi P61296. Positions 94-155.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114850. 13 interactions.
STRINGi 9606.ENSP00000352565.

PTM databases

PhosphoSitei P61296.

Polymorphism databases

DMDMi 47117699.

Proteomic databases

PaxDbi P61296.
PRIDEi P61296.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000359562 ; ENSP00000352565 ; ENSG00000164107 . [P61296-1 ]
GeneIDi 9464.
KEGGi hsa:9464.
UCSCi uc003ith.1. human. [P61296-1 ]

Organism-specific databases

CTDi 9464.
GeneCardsi GC04M174447.
HGNCi HGNC:4808. HAND2.
HPAi CAB025576.
MIMi 602407. gene.
neXtProti NX_P61296.
PharmGKBi PA29184.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG259520.
GeneTreei ENSGT00760000119097.
HOGENOMi HOG000232082.
HOVERGENi HBG051880.
InParanoidi P61296.
KOi K18486.
OMAi ATRCGHE.
PhylomeDBi P61296.
TreeFami TF315153.

Miscellaneous databases

GeneWikii HAND2.
GenomeRNAii 9464.
NextBioi 35460.
PROi P61296.
SOURCEi Search...

Gene expression databases

Bgeei P61296.
CleanExi HS_HAND2.
ExpressionAtlasi P61296. baseline and differential.
Genevestigatori P61296.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
    Tissue: Embryonic heart.
  2. "Co-regulated expression of HAND2 and DEIN by a bidirectional promoter with asymmetrical activity in neuroblastoma."
    Voth H., Oberthuer A., Simon T., Kahlert Y., Berthold F., Fischer M.
    BMC Mol. Biol. 10:28-28(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Neuroblastoma.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).

Entry informationi

Entry nameiHAND2_HUMAN
AccessioniPrimary (citable) accession number: P61296
Secondary accession number(s): B6ECG9
, O95300, O95301, P97833, Q494T1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: May 10, 2004
Last modified: November 26, 2014
This is version 96 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 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
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3