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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HAND1 Gene

protein-coding   GIFtS: 59
GCID: GC05M153834

Heart And Neural Crest Derivatives Expressed 1

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 labyrinthitis, and tetralogy of fallot, and among its related super-pathways are Signaling Involved in Cardiac Hypertrophy. GO annotations related to this gene include protein heterodimerization activity and protein homodimerization activity. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_029289.11  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HAND1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: 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)

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

Explore proteomics data for HAND1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to tranlocation into the nucleoplasm,
    allowing dimerization and transcription factor activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O96004

  • HAND1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HAND1 Protein Expression
    REFSEQ proteins: NP_004812.1  
    ENSEMBL proteins: 
     ENSP00000231121  

    Human Recombinant Protein Products 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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    HAND1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for HAND1 

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    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for HAND1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    HAND1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/12 molecular function terms (GO ID links to tree view) (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--
         
    HAND1 for ontologies           About GeneDecksing


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

         11 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Hand1):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  muscle  nervous system 
     normal 

    HAND1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hand1tm1Jcc for HAND1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HAND1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HAND1
    8/31 QIAGEN miScript miRNA 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:
        
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAND1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 QIAGEN 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


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HAND1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/13 Interacting proteins for HAND1 (O960043 ENSP000002311214) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    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): 5/25 biological process terms (GO ID links to tree view) (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

    HAND1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HAND1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/31 QIAGEN miScript miRNA 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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    Primer
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    OriGene qPCR primer pairs and template standards for HAND1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HAND1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HAND1

    Additional mRNA sequence: 

    AF061756.1 BC021190.2 

    1 DOTS entry:

    DT.40300767 

    24/44 AceView cDNA sequences (see all 44):

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

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HAND1 expression in normal human tissues (normalized intensities)      HAND1 embryonic expression: see
    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 
     5/23 selected tissues (see all 23) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 11 entries
             Cardiomyocytes Left Ventricle
             Cardiac progenitor cells (Sca1+)
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Medulla Oblongata
             ganglion/cranial   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 4 entries
             Mesoderm Cells Mesoderm
             Mesoderm
             Mesoderm-like cells ( Derivation of cardiomyocytes from pluripotent stem cells and...
             skeleton/axial skeleton   
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 3 entries
             Primitive Syncytiotrophoblast Cells Chorion Frondosum
             Chorion Frondosum
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Endothelial progenitor cells ( Derivation and purification of endothelial precursor...
             Human Villous Capillary Endothelial Cells (HVCEC)   

    See HAND1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HAND1

    SOURCE GeneReport for Unigene cluster: Hs.152531

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

        SABiosciences Expression via Pathway-Focused 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

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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HAND1 gene from 6/14 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 74.17(n)
    76(a)
      395812  NM_204965.1  NP_990296.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia hand1-A2 heart and neural crest derivatives expressed 1 76.32(n)    Z95080.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-34f9.36
    si:dkey-34f9.3
    17(a)
    possible ortholog
    9(46857991-46862435)
    fruit fly
    (Drosophila melanogaster)
    Insecta Hand6
    Fer26
    48 related 2
    39(a)
    14(a)
    many → 1
    possible ortholog
    2L(10292781-10295299)
    3R(11975291-11977064)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-136
    Helix-loop-helix protein 13
    23(a)
    possible ortholog
    X(4249249-4250764)


    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)
    About This Section
    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

    HAND1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/114 SNPs in HAND1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602406    OMIM disorders: --

    6 diseases for HAND1:    About MalaCards
    labyrinthitis    tetralogy of fallot    situs inversus    malaria
    thyroiditis    neuronitis


    HAND1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for HAND1 gene, integrated from 9 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. (1998)
    2. Common variants in 22 loci are associated with QRS du ration and cardiac ventricular conduction. (PubMed id 21076409)1, 4 Sotoodehnia N....Arking D.E. (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. (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. (2004)
    5. Cloning, chromosomal mapping, and expression of the human eHAND gene. (PubMed id 9337404)1, 3 Russell M.W....Izumo S. (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 Knofler M....Husslein P. (2002)
    7. Negative regulation of selected bHLH proteins by eHAND. (PubMed id 10837146)1, 9 Bounpheng M.A....Christy B.A. (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. (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. (2008)
    10. Two novel HAND1 mutations in Chinese patients with ven tricular septal defect. (PubMed id 22032825)1 Cheng Z....Ma X. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 9421 HGNC: 4807 AceView: HAND1 Ensembl:ENSG00000113196 euGenes: HUgn9421
    ECgene: HAND1 H-InvDB: HAND1

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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