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Aliases for HAND2 Gene

Aliases for HAND2 Gene

  • Heart And Neural Crest Derivatives Expressed 2 2 3
  • DHand 3 4 6
  • Deciduum, Heart, Autonomic Nervous System And Neural Crest Derivatives-Expressed Protein 2 3 4
  • Class A Basic Helix-Loop-Helix Protein 26 3 4
  • BHLHa26 3 4
  • DHAND2 3 6
  • Heart- And Neural Crest Derivatives-Expressed Protein 2 3
  • Basic Helix-Loop-Helix Transcription Factor HAND2 3
  • Thing2 3
  • HED 3

External Ids for HAND2 Gene

Summaries for HAND2 Gene

Entrez Gene Summary for HAND2 Gene

  • The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]

GeneCards Summary for HAND2 Gene

HAND2 (Heart And Neural Crest Derivatives Expressed 2) is a Protein Coding gene. Diseases associated with HAND2 include split hand and saethre-chotzen syndrome. Among its related pathways are Heart Development and NFAT and Cardiac Hypertrophy. GO annotations related to this gene include protein homodimerization activity and transcription factor binding. An important paralog of this gene is LYL1.

UniProtKB/Swiss-Prot for HAND2 Gene

  • 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).

Gene Wiki entry for HAND2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAND2 Gene

Genomics for HAND2 Gene

Genomic Location for HAND2 Gene

Start:
173,524,969 bp from pter
End:
173,530,229 bp from pter
Size:
5,261 bases
Orientation:
Minus strand

Genomic View for HAND2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HAND2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAND2 Gene

Proteins for HAND2 Gene

  • Protein details for HAND2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61296-HAND2_HUMAN
    Recommended name:
    Heart- and neural crest derivatives-expressed protein 2
    Protein Accession:
    P61296
    Secondary Accessions:
    • B6ECG9
    • O95300
    • O95301
    • P97833
    • Q494T1

    Protein attributes for HAND2 Gene

    Size:
    217 amino acids
    Molecular mass:
    23666 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for HAND2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAND2 Gene

Proteomics data for HAND2 Gene at MOPED

Post-translational modifications for HAND2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys183

Other Protein References for HAND2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HAND2 Gene

Domains for HAND2 Gene

Gene Families for HAND2 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for HAND2 Gene

UniProtKB/Swiss-Prot:

HAND2_HUMAN
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.:
    • P61296
genes like me logo Genes that share domains with HAND2: view

Function for HAND2 Gene

Molecular function for HAND2 Gene

GENATLAS Biochemistry: heart and neural crest derivatives expressed 2,also expressed in the deciduum,murine bHAND homolog,activating UFD1L in neural crest mesenchyme,acting in a complementary fashion with HAND1 in the formation of right ventricles and aortic arches
UniProtKB/Swiss-Prot Function: 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).

Gene Ontology (GO) - Molecular Function for HAND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 16280598
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 15486975
GO:0003680 AT DNA binding IDA 15486975
GO:0003713 transcription coactivator activity ISS --
GO:0005515 protein binding IPI 15486975
genes like me logo Genes that share ontologies with HAND2: view
genes like me logo Genes that share phenotypes with HAND2: view

Animal Models for HAND2 Gene

MGI Knock Outs for HAND2:

miRNA for HAND2 Gene

miRTarBase miRNAs that target HAND2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HAND2 Gene

Localization for HAND2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAND2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAND2 Gene COMPARTMENTS Subcellular localization image for HAND2 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2
extracellular 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HAND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 16280598
GO:0005634 nucleus --
GO:0005667 transcription factor complex ISS --
GO:0043234 protein complex IDA 15486975
genes like me logo Genes that share ontologies with HAND2: view

Pathways for HAND2 Gene

genes like me logo Genes that share pathways with HAND2: view

Pathways by source for HAND2 Gene

1 BioSystems pathway for HAND2 Gene

Gene Ontology (GO) - Biological Process for HAND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001701 in utero embryonic development ISS --
GO:0001947 heart looping ISS --
GO:0001967 suckling behavior IEA --
GO:0003007 heart morphogenesis ISS --
genes like me logo Genes that share ontologies with HAND2: view

Compounds for HAND2 Gene

(3) Novoseek inferred chemical compound relationships for HAND2 Gene

Compound -log(P) Hits PubMed IDs
norepinephrine 25.4 2
tyrosine 0 2
dopamine 0 2
genes like me logo Genes that share compounds with HAND2: view

Transcripts for HAND2 Gene

Unigene Clusters for HAND2 Gene

Heart and neural crest derivatives expressed 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HAND2 Gene

No ASD Table

Relevant External Links for HAND2 Gene

GeneLoc Exon Structure for
HAND2
ECgene alternative splicing isoforms for
HAND2

Expression for HAND2 Gene

mRNA expression in normal human tissues for HAND2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAND2 Gene

This gene is overexpressed in Colon - Sigmoid (7.4) and Heart - Left Ventricle (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HAND2 Gene

SOURCE GeneReport for Unigene cluster for HAND2 Gene Hs.388245

mRNA Expression by UniProt/SwissProt for HAND2 Gene

P61296-HAND2_HUMAN
Tissue specificity: Heart
genes like me logo Genes that share expressions with HAND2: view

Orthologs for HAND2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HAND2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAND2 36
  • 100 (n)
  • 100 (a)
HAND2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HAND2 36
  • 95.81 (n)
  • 99.48 (a)
HAND2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAND2 36
  • 94.22 (n)
  • 96.53 (a)
HAND2 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hand2 36
  • 94.32 (n)
  • 100 (a)
Hand2 16
Hand2 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAND2 37
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hand2 36
  • 93.55 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves TWIST3 37
  • 28 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia HAND2 37
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hand2-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hand2 36
  • 83.49 (n)
  • 91.9 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12116 36
zebrafish
(Danio rerio)
Actinopterygii hand2 36
  • 73.56 (n)
  • 83.17 (a)
hand2 37
  • 87 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hand 37
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4380 37
  • 16 (a)
OneToMany
Species with no ortholog for HAND2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HAND2 Gene

ENSEMBL:
Gene Tree for HAND2 (if available)
TreeFam:
Gene Tree for HAND2 (if available)

Paralogs for HAND2 Gene

Paralogs for HAND2 Gene

Selected SIMAP similar genes for HAND2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with HAND2: view

Variants for HAND2 Gene

Sequence variations from dbSNP and Humsavar for HAND2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs2119788 -- 173,526,238(-) CTGAA(A/G)TCAAT downstream-variant-500B
rs10024737 -- 173,526,992(+) ATCTA(C/T)GAGAC utr-variant-3-prime
rs10520260 -- 173,526,198(+) TCTCC(A/G)AACAA downstream-variant-500B
rs13141356 -- 173,526,211(+) ACTGA(A/C)GGCCT downstream-variant-500B
rs58179762 -- 173,526,614(+) AAAAA(-/A)CACAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HAND2 Gene

Variant ID Type Subtype PubMed ID
nsv518998 CNV Loss 19592680
nsv880913 CNV Loss 21882294
nsv881020 CNV Loss 21882294
nsv522261 CNV Loss 19592680

Relevant External Links for HAND2 Gene

HapMap Linkage Disequilibrium report
HAND2
Human Gene Mutation Database (HGMD)
HAND2

Disorders for HAND2 Gene

(2) University of Copenhagen DISEASES for HAND2 Gene

(1) Novoseek inferred disease relationships for HAND2 Gene

Disease -log(P) Hits PubMed IDs
saethre-chotzen syndrome 73.1 1

Relevant External Links for HAND2

Genetic Association Database (GAD)
HAND2
Human Genome Epidemiology (HuGE) Navigator
HAND2
genes like me logo Genes that share disorders with HAND2: view

No data available for UniProtKB/Swiss-Prot for HAND2 Gene

Publications for HAND2 Gene

  1. Molecular cloning of the human HAND2 gene. (PMID: 9878849) Russell M.W. … Izumo S. (Biochim. Biophys. Acta 1998) 2 3 4
  2. The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA. (PMID: 14506227) Rychlik J.L. … Lewis E.J. (J. Biol. Chem. 2003) 3 23
  3. PKA, PKC, and the protein phosphatase 2A influence HAND factor function: a mechanism for tissue-specific transcriptional regulation. (PMID: 14636580) Firulli B.A. … Firulli A.B. (Mol. Cell 2003) 3 23
  4. Cardiac neural crest expression of Hand2 regulates outflow and second heart field development. (PMID: 19008477) Morikawa Y. … Cserjesi P. (Circ. Res. 2008) 3 23
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 49

Products for HAND2 Gene

Sources for HAND2 Gene

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