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P61296

- HAND2_HUMAN

UniProt

P61296 - HAND2_HUMAN

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
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (10 May 2004)
      Previous versions | rss
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    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 binding Source: UniProtKB
    5. protein homodimerization activity Source: BHF-UCL
    6. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB
    7. RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
    8. transcription coactivator activity Source: BHF-UCL
    9. 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

    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

    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

    ArrayExpressiP61296.
    BgeeiP61296.
    CleanExiHS_HAND2.
    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.
    HOGENOMiHOG000232082.
    HOVERGENiHBG051880.
    InParanoidiP61296.
    KOiK09071.
    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]

    Sequencei

    Sequence statusi: Complete.

    P61296-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSLVGGFPHH PVVHHEGYPF AAAAAAAAAA AASRCSHEEN PYFHGWLIGH    50
    PEMSPPDYSM ALSYSPEYAS GAAGLDHSHY GGVPPGAGPP GLGGPRPVKR 100
    RGTANRKERR RTQSINSAFA ELRECIPNVP ADTKLSKIKT LRLATSYIAY 150
    LMDLLAKDDQ NGEAEAFKAE IKKTDVKEEK RKKELNEILK STVSSNDKKT 200
    KGRTGWPQHV WALELKQ 217
    Length:217
    Mass (Da):23,666
    Last modified:May 10, 2004 - v1
    Checksum:i528F541BB2173F1E
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF087940 mRNA. Translation: AAD13185.1.
    AF087941 Genomic DNA. Translation: AAD13186.1.
    FJ226608 mRNA. Translation: ACI42790.1.
    CH471056 Genomic DNA. Translation: EAX04749.1.
    CCDSiCCDS3819.1.
    RefSeqiNP_068808.1. NM_021973.2.
    UniGeneiHs.388245.

    Genome annotation databases

    EnsembliENST00000359562; ENSP00000352565; ENSG00000164107.
    GeneIDi9464.
    KEGGihsa:9464.
    UCSCiuc003ith.1. human.

    Polymorphism databases

    DMDMi47117699.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF087940 mRNA. Translation: AAD13185.1 .
    AF087941 Genomic DNA. Translation: AAD13186.1 .
    FJ226608 mRNA. Translation: ACI42790.1 .
    CH471056 Genomic DNA. Translation: EAX04749.1 .
    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 .
    GeneIDi 9464.
    KEGGi hsa:9464.
    UCSCi uc003ith.1. human.

    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.
    HOGENOMi HOG000232082.
    HOVERGENi HBG051880.
    InParanoidi P61296.
    KOi K09071.
    OMAi ATRCGHE.
    PhylomeDBi P61296.
    TreeFami TF315153.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi P61296.
    Bgeei P61296.
    CleanExi HS_HAND2.
    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

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      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].
      Tissue: Neuroblastoma.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiHAND2_HUMAN
    AccessioniPrimary (citable) accession number: P61296
    Secondary accession number(s): B6ECG9
    , O95300, O95301, P97833
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2004
    Last sequence update: May 10, 2004
    Last modified: October 1, 2014
    This is version 94 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