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Aliases for HAND2 Gene

Aliases for HAND2 Gene

  • Heart And Neural Crest Derivatives Expressed 2 2 3 5
  • 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
  • DHand 3 4
  • Basic Helix-Loop-Helix Transcription Factor HAND2 3
  • DHAND2 3
  • Thing2 3
  • HED 3

External Ids for HAND2 Gene

Previous GeneCards Identifiers for HAND2 Gene

  • GC04M175366
  • GC04M174984
  • GC04M175142
  • GC04M174820
  • GC04M174685
  • GC04M174447
  • GC04M170194

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 Saethre-Chotzen Syndrome and Heart Disease. Among its related pathways are NFAT and Cardiac Hypertrophy and Heart Development. GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. 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

Regulatory Elements for HAND2 Gene

Enhancers for HAND2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HAND2 on UCSC Golden Path with GeneCards custom track

Promoters for HAND2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HAND2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HAND2 Gene

Chromosome:
4
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

Genes around HAND2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAND2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

  • Ubiquitination at Lys 183
  • Modification sites at PhosphoSitePlus

Other Protein References for HAND2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HAND2 Gene

Domains & Families for HAND2 Gene

Gene Families for HAND2 Gene

Protein Domains for HAND2 Gene

Graphical View of Domain Structure for InterPro Entry

P61296

UniProtKB/Swiss-Prot:

HAND2_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
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:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 15486975
GO:0005515 protein binding IEA,IPI 15486975
GO:0044212 contributes_to transcription regulatory region DNA binding IEA,ISS --
GO:0046983 protein dimerization activity IEA --
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:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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 5
cytoskeleton 2
cytosol 2
extracellular 2
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for HAND2 Gene

Pathways & Interactions 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:0001947 heart looping IEA --
GO:0001967 suckling behavior IEA --
GO:0003219 cardiac right ventricle formation IEA --
GO:0003278 apoptotic process involved in heart morphogenesis IEA --
genes like me logo Genes that share ontologies with HAND2: view

No data available for SIGNOR curated interactions for HAND2 Gene

Drugs & Compounds for HAND2 Gene

(3) Drugs for HAND2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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 (x7.4) and Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for HAND2 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HAND2: view

Protein tissue co-expression partners for HAND2 Gene

Primer Products

Orthologs for HAND2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HAND2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HAND2 35
  • 95.81 (n)
  • 99.48 (a)
HAND2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAND2 35
  • 94.22 (n)
  • 96.53 (a)
HAND2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hand2 35
  • 94.32 (n)
  • 100 (a)
Hand2 16
Hand2 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HAND2 35
  • 100 (n)
  • 100 (a)
HAND2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hand2 35
  • 93.55 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia HAND2 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves TWIST3 36
  • 28 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia HAND2 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hand2 35
  • 83.49 (n)
  • 91.9 (a)
African clawed frog
(Xenopus laevis)
Amphibia hand2-A 35
zebrafish
(Danio rerio)
Actinopterygii hand2 35
  • 73.56 (n)
  • 83.17 (a)
hand2 36
  • 87 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12116 35
fruit fly
(Drosophila melanogaster)
Insecta Hand 36
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4380 36
  • 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

(9) 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

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

Variation tolerance for HAND2 Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 19.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAND2 Gene

Human Gene Mutation Database (HGMD)
HAND2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for HAND2 Gene

Disorders for HAND2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HAND2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
saethre-chotzen syndrome
  • saethre-chotzen syndrome with eyelid anomalies
heart disease
  • congestive heart failure
hemopericardium
  • haemopericardium
congenital heart disease
  • congenital anomaly of heart
split hand foot malformation
  • ectrodactyly
- elite association - COSMIC cancer census association via MalaCards
Search HAND2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HAND2

Genetic Association Database (GAD)
HAND2
Human Genome Epidemiology (HuGE) Navigator
HAND2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAND2
genes like me logo Genes that share disorders with HAND2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Cardiac neural crest expression of Hand2 regulates outflow and second heart field development. (PMID: 19008477) Morikawa Y. … Cserjesi P. (Circ. Res. 2008) 3 23
  3. Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type. (PMID: 16280598) Rychlik J.L. … Lewis E.J. (J. Mol. Neurosci. 2005) 3 23
  4. Cooperative activation of atrial naturetic peptide promoter by dHAND and MEF2C. (PMID: 15486975) Zang M.X. … Jing H. (J. Cell. Biochem. 2004) 3 23
  5. 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

Products for HAND2 Gene

Sources for HAND2 Gene

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