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HAND1 Gene

protein-coding   GIFtS: 59
GCID: GC05M153834

Heart And Neural Crest Derivatives Expressed 1

  See HAND1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Heart And Neural Crest Derivatives Expressed 11 2     eHand2
Class A Basic Helix-Loop-Helix Protein 272 3     Heart- And Neural Crest Derivatives-Expressed Protein 12
Extraembryonic Tissues, Heart, Autonomic Nervous System And Neural Crest
Derivatives-Expressed Protein 12 3
     BHLHA273
bHLHa272 3     EHAND3
Hxt2     eHAND3
Thing12     

External Ids:    HGNC: 48071   Entrez Gene: 94212   Ensembl: ENSG000001131967   OMIM: 6024065   UniProtKB: O960043   

Export aliases for HAND1 gene to outside databases

Previous GC identifers: GC05M153925 GC05M154450 GC05M153883 GC05M148995


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HAND1 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, it has been suggested that this
transcription factor may be required for early trophoblast differentiation. (provided by RefSeq, Jul 2008)

GeneCards Summary for HAND1 Gene:
HAND1 (heart and neural crest derivatives expressed 1) is a protein-coding gene. Diseases associated with HAND1 include ventricular septal defect, and congenital heart disease. GO annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is NHLH1.

UniProtKB/Swiss-Prot: HAND1_HUMAN, O96004
Function: Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in
cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds
the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity)

Gene Wiki entry for HAND1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_029289.12  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HAND1 gene promoter:
         E2F-4   E2F-3a   E2F-5   RelA   E2F-2   AREB6   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAND1 promoter sequence
   Search Chromatin IP Primers for HAND1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HAND1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q33   Ensembl cytogenetic band:  5q33.2   HGNC cytogenetic band: 5q33

HAND1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HAND1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M153834:  view genomic region     (about GC identifiers)

Start:
153,854,532 bp from pter      End:
153,857,824 bp from pter
Size:
3,293 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HAND1_HUMAN, O96004 (See protein sequence)
Recommended Name: Heart- and neural crest derivatives-expressed protein 1  
Size: 215 amino acids; 23627 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Forms homodimers and heterodimers
with TCF3 gene products E12 and E47, HAND2 and HEY1, HEY2 and HEYL (hairy-related transcription factors).
Interacts with MDFIC (By similarity)

Explore the universe of human proteins at neXtProt for HAND1: NX_O96004

Explore proteomics data for HAND1 at MOPED

Post-translational modifications: 

  • Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to tranlocation into the nucleoplasm,
    allowing dimerization and transcription factor activity (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HAND1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004812.1  
    ENSEMBL proteins: 
     ENSP00000231121  

    HAND1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for HAND1
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    Novus Biologicals HAND1 Proteins
    Novus Biologicals HAND1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HAND1
    Cloud-Clone Corp. Proteins for HAND1

     
    Search eBioscience for Proteins for HAND1 

    HAND1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HAND1
    R&D Systems Antibodies for HAND1
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    LSBio Antibodies in human, mouse, rat for HAND1

    HAND1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HAND1
    Cloud-Clone Corp. CLIAs for HAND1
    Search eBioscience for ELISAs for HAND1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry O96004

    ProtoNet protein and cluster: O96004

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: HAND1_HUMAN, O96004
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Find genes that share domains with HAND1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HAND1_HUMAN, O96004
    Function: Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in
    cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds
    the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity)

         Genatlas biochemistry entry for HAND1:
    heart and neural crest derivatives expressed 1,murine eHAND gene homolog,expressed in cytotrophoblastic cells,in
    prenatal and adult heart,required for trophoblast giant cell differentiation,involved in cardiac
    looping,ventricular maturation and conotruncal development

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003713transcription coactivator activity IDA16043483
    GO:0005515contributes to protein binding IPI16043483
    GO:0008134transcription factor binding IPI16043483
    GO:0019899enzyme binding IEA--
         
    Find genes that share ontologies with HAND1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HAND1:
     Increased cell transformation 

         12 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Hand1):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  muscle  nervous system 
     normal  reproductive system 

    Find genes that share phenotypes with HAND1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hand1tm1Jcc for HAND1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HAND1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HAND1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HAND1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HAND1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HAND1:
    hsa-let-7b-5p (MIRT052125), hsa-mir-877-5p (MIRT037374), hsa-mir-196a-5p (MIRT026100), hsa-let-7d-5p (MIRT032179)

    Block miRNA regulation of human, mouse, rat HAND1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HAND1 (see all 31):
    hsa-miR-623 hsa-let-7d hsa-miR-137 hsa-miR-202 hsa-miR-25 hsa-let-7c hsa-miR-519a hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidHAND1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HAND1
    Predesigned siRNA for gene silencing in human, mouse, rat HAND1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HAND1

    Clone
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    OriGene clones in human, mouse for HAND1 (see all 5)
    OriGene ORF clones in mouse, rat for HAND1
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    GenScript: all cDNA clones in your preferred vector: HAND1 (NM_004821)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HAND1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAND1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAND1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA4-14131) for HAND1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HAND1_HUMAN, O96004: Nucleus, nucleoplasm (By similarity). Nucleus, nucleolus (By similarity). Note=Interaction
    with MDFIC sequesters it into the nucleolus, preventing the transcription factor activity. Phosphorylation by
    PLK4 disrupts the interaction with MDFIC and releases it from the nucleolus, leading to transcription factor
    activity (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    extracellular2
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11802795
    GO:0005654nucleoplasm IEA--
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IDA11802795

    Find genes that share ontologies with HAND1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HAND1 About    
    See pathways by source

    SuperPathContained pathways About
    1NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy0.42
    Signaling Involved in Cardiac Hypertrophy0.42
    2Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell
    3Neural Crest Differentiation
    Neural Crest Differentiation
    4Heart Development
    Heart Development

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HAND1
        Transcriptional Regulatory Network in Embryonic Stem Cell
    NFAT and Cardiac Hypertrophy
    Signaling Involved in Cardiac Hypertrophy

    2 BioSystems Pathways for HAND1
        Heart Development
    Neural Crest Differentiation


        Pathway & Disease-focused RT2 Profiler PCR Arrays including HAND1: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Transcription Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HAND1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for HAND1 (O960043 ENSP000002311214) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAND2P612963, ENSP000003525654I2D: score=3 STRING: ENSP00000352565
    HEYLQ9NQ873, ENSP000003619434I2D: score=3 STRING: ENSP00000361943
    TCF12Q990813, ENSP000003310574I2D: score=3 STRING: ENSP00000331057
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    TCF3P159233, ENSP000002629654I2D: score=2 STRING: ENSP00000262965
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA11802795
    GO:0001525angiogenesis ISS--
    GO:0001701in utero embryonic development ----
    GO:0001707mesoderm formation IEA--
    GO:0001824blastocyst development IEP11802795

    Find genes that share ontologies with HAND1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HAND1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HAND1 gene: 
    NM_004821.2  

    Unigene Cluster for HAND1:

    Heart and neural crest derivatives expressed 1
    Hs.152531  [show with all ESTs]
    Unigene Representative Sequence: AF061756
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000231121(uc003lvn.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat HAND1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HAND1 (see all 31):
    hsa-miR-623 hsa-let-7d hsa-miR-137 hsa-miR-202 hsa-miR-25 hsa-let-7c hsa-miR-519a hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidHAND1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HAND1
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    GenScript: all cDNA clones in your preferred vector: HAND1 (NM_004821)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HAND1
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    Primer
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    OriGene qPCR primer pairs and template standards for HAND1
    OriGene qSTAR qPCR primer pairs in human, mouse for HAND1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HAND1
      QuantiTect SYBR Green Assays in human, mouse, rat HAND1
      QuantiFast Probe-based Assays in human, mouse, rat HAND1
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA4-14131) for HAND1 

    Additional mRNA sequence: 

    AF061756.1 BC021190.2 

    1 DOTS entry:

    DT.40300767 

    Selected AceView cDNA sequences (see all 44):

    BX375669 NM_004821 CR591821 AW072675 CR623464 CR594436 AA570506 AF061756 
    AA552943 BC021190 AI990698 BI194869 AW615154 AA936953 BE260728 BI200151 
    AI638877 BM012688 BE314849 BM684910 BE463740 BM684815 BQ072228 AL524188 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HAND1    About this scheme

    ExUns: 1a · 1b ^ 2
    SP1:                  
    SP2:                  


    ECgene alternative splicing isoforms for HAND1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HAND1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGTTGTGC
    HAND1 Expression
    About this image


    HAND1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 9 entries
             Cardiomyocytes Left Ventricle
             Cardiac progenitor cells (Sca1+)
             Cardiomyocyte-like progenitor cells
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 3 entries
             Primitive Syncytiotrophoblast Cells Chorion Frondosum
             Chorion Frondosum
             Syncytiotrophoblast-like cells
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             Mesoderm-like cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
    HAND1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HAND1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.152531

    UniProtKB/Swiss-Prot: HAND1_HUMAN, O96004
    Tissue specificity: Heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HAND1: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Transcription Factors in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HAND1
    OriGene qSTAR qPCR primer pairs in human, mouse for HAND1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HAND1
    QuantiTect SYBR Green Assays in human, mouse, rat HAND1
    QuantiFast Probe-based Assays in human, mouse, rat HAND1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAND1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for HAND1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hand11 , 5 heart and neural crest derivatives expressed transcript more1, 5 86.98(n)1
    92.56(a)1
      11 (35.27 cM)5
    151101  NM_008213.21  NP_032239.11 
     578287075 
    chicken
    (Gallus gallus)
    Aves HAND11 heart and neural crest derivatives expressed 1 77.66(n)
    80.32(a)
      395812  NM_204965.1  NP_990296.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    27(a)
    many ↔ many
    GL343252.1(1442701-1443213)
    African clawed frog
    (Xenopus laevis)
    Amphibia hand1-A2 heart and neural crest derivatives expressed 1 76.32(n)    Z95080.1 
    zebrafish
    (Danio rerio)
    Actinopterygii twist36
    twist3
    21(a)
    many ↔ many
    23(103338-110023) ENSDARG00000019646
    fruit fly
    (Drosophila melanogaster)
    Insecta Hand1 Hand 48.63(n)
    53.28(a)
      34379  NM_135526.2  NP_609370.2 


    ENSEMBL Gene Tree for HAND1 (if available)
    TreeFam Gene Tree for HAND1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HAND1 gene
    NHLH12  TWIST12  TWIST22  HAND22  TAL12  NHLH22  LYL12  TAL22  
    TCF152  SCXB2  SCXA2  
    2 SIMAP similar genes for HAND1 using alignment to 1 protein entry:     HAND1_HUMAN:
    HAND2    NHLH1

    Find genes that share paralogs with HAND1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HAND1 (see all 114)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1398440651,2
    --153854154(+) GGATAA/GGATTC 1 -- ds50010--------
    rs1915418391,2
    --153854197(+) AACACC/TCCAAA 1 -- ds50010--------
    rs1134476361,2
    C--153854372(+) TGCTCT/-TTGTT 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs796565691,2
    C,F--153854399(+) TATCTG/TCCGGC 1 -- ds50011Minor allele frequency- T:0.02NA 120
    rs355427111,2
    C,F--153854714(+) AGGGAA/TAGCTT 1 -- ut319Minor allele frequency- T:0.14NA WA CSA EA 370
    rs1843531951,2
    --153854767(+) AGAGAA/GAGACA 1 -- ut310--------
    rs1507792031,2
    C--153854872(+) GGCAGC/TCTTTC 1 -- ut310--------
    rs1896526871,2
    --153855049(+) TGGAAA/GAGTGC 1 -- ut310--------
    rs1391392731,2
    --153855156(+) CTTTCC/TCTTAA 1 -- ut310--------
    rs1811366911,2
    --153855168(+) GTATTA/TAAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for HAND1 (153854532 - 153857824 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HAND1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830520CNV Loss17160897
    esv275523CNV Loss21479260

    Human Gene Mutation Database (HGMD): HAND1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HAND1
    DNA2.0 Custom Variant and Variant Library Synthesis for HAND1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602406    OMIM disorders: --

    3 diseases for HAND1:    
    About MalaCards
    ventricular septal defect    congenital heart disease    tetralogy of fallot


    Find genes that share disorders with HAND1           About GenesLikeMe

    Genetic Association Database (GAD): HAND1
    Human Genome Epidemiology (HuGE) Navigator: HAND1 (1 document)

    Export disorders for HAND1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HAND1 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with HAND1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human Hand1 gene/cDNA and its tissue- restricted expression in cytotrophoblastic cells and heart. (PubMed id 9931445)1, 2, 3, 9 Knoefler M.... Egarter C. (Gene 1998)
    2. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PubMed id 21076409)1, 4 Sotoodehnia N....Arking D.E. (Nat. Genet. 2010)
    3. A functional genetic study identifies HAND1 mutations in septation defects of the human heart. (PubMed id 19586923)1, 4 Reamon-Buettner S.M....Borlak J. (Hum. Mol. Genet. 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Cloning, chromosomal mapping, and expression of the human eHAND gene. (PubMed id 9337404)1, 3 Russell M.W....Izumo S. (Mamm. Genome 1997)
    6. Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains. (PubMed id 11802795)1, 9 KnAPfler M....Husslein P. (Biochem. J. 2002)
    7. Negative regulation of selected bHLH proteins by eHAND. (PubMed id 10837146)1, 9 Bounpheng M.A....Christy B.A. (Exp. Cell Res. 2000)
    8. Differential regulation of Hand1 homodimer and Hand1-E12 heterodimer activity by the cofactor FHL2. (PubMed id 15509787)1, 9 Hill A.A. and Riley P.R. (Mol. Cell. Biol. 2004)
    9. A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. (PubMed id 18276607)1, 9 Reamon-Buettner S.M....Borlak J. (Hum. Mol. Genet. 2008)
    10. Two novel HAND1 mutations in Chinese patients with ventricular septal defect. (PubMed id 22032825)1 Cheng Z....Ma X. ( international journal of clinical chemistry 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 9421 HGNC: 4807 AceView: HAND1 Ensembl:ENSG00000113196 euGenes: HUgn9421
    ECgene: HAND1 H-InvDB: HAND1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HAND1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HAND1 gene:
    Search GeneIP for patents involving HAND1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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