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

HAND1 Gene

protein-coding   GIFtS: 57
GCID: GC05M153834

heart and neural crest derivatives expressed 1
 Explore 10 diseases affiliated with
HAND1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HAND1    

Aliases
for HAND1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Heart And Neural Crest Derivatives Expressed 11 2     Extraembryonic Tissues, Heart, Autonomic Nervous System And Neural Crest
Derivatives-Expressed Protein 12 3
BHLHa271     Heart- And Neural Crest Derivatives-Expressed Protein 12
Hxt1 2     BHLHA273
Thing11 2     EHAND3
EHand1     EHAND3
Class A Basic Helix-Loop-Helix Protein 272 3     

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


Summaries
for HAND1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_029289.11  
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 plasmid: HAND1 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

Proteins
for HAND1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O96004

    • HAND1 Protein expression data from MOPED and PaxDb:    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 Protein
    Novus Biologicals HAND1 Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for HAND1
    Uscn 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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    ThermoFisher Antibodies for HAND1

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    Uscn ELISAs and CLIAs for HAND1

    Protein Domains /
    Families
    for HAND1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HAND1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry O96004

    ProtoNet protein and cluster: O96004

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

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


    Function
    for HAND1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003713transcription coactivator activity IDA16043483
    GO:0005515contributes to protein binding IPI16043483
    GO:0008134transcription factor binding IPI16043483
         
    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:
         Mouse knock-out Hand1tm1Jcc for HAND1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions 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 plasmid: HAND1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HAND1 (see all 7)
    OriGene shRNA RFP: HAND1
    OriGene siRNA: HAND1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HAND1
    Sirion Biotech Custom design and validation of potent shRNA sequences against HAND1 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of HAND1 
    Sirion Biotech Customized adenovirus for potent knockdown of HAND1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HAND1 (see all 3)
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    Cell Line
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    Search LifeMap BioReagents cell lines for HAND1
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAND1


    Pathways & Interactions
    for HAND1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NFAT and Cardiac Hypertrophy
    		NFAT and Cardiac Hypertrophy1.00
    		Signaling Involved in Cardiac Hypertrophy0.42
    2Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    3Transcriptional Regulatory Network in Embryonic Stem Cell
    		Transcriptional Regulatory Network in Embryonic Stem Cell1.00
    4Heart Development
    		Heart Development1.00

    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): 5/26 biological process terms (GO ID links to tree view) (see all 26):    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



    Drugs & Compounds
    for HAND1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for HAND1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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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    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 plasmid: HAND1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HAND1 (see all 7)
    OriGene shRNA RFP: HAND1
    OriGene siRNA: HAND1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HAND1
    Sirion Biotech Custom design and validation of potent shRNA sequences against HAND1 
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HAND1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HAND1 (NM_004821)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HAND1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAND1 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HAND1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HAND1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HAND1

    Additional cDNA sequence: 

    AF061756.1 BC021190.2 

    1 DOTS entry:

    DT.40300767 

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

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

    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

    Expression
    for HAND1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGTTGTGC
    HAND1 Expression
    About this image

    HAND1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartHeart TubeHeart Tube CellsMyocardium
    HeartLeft VentricleCardiomyocytesMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    HeartOuter CurvatureCardiomyocytesMyocardium
    HeartOutflow TractCardiomyocytesMyocardium
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    PlacentaChorion FrondosumPrimitive Syncytiotrophoblast CellsExtraembryonic Tissues, Placenta
    HeartRight VentricleCardiomyocytesMyocardium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    PlacentaColumn Cytotrophoblast LayerColumn Cytotrophoblast CellsExtraembryonic Tissues, Placenta
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    Syncytiotrophoblast-like cells (Generation of syncyt...)
    Trophoblast-like cells (Generation of tropho...)
    Mesoderm-like cells (Derivation of cardio...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    DKK1-induced cells (Derivation of cardio...)
    Mesendoderm (Derivation and sorti...)

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAND1

    Orthologs
    for HAND1 gene

    (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 4/17 species (see all 17)    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 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Hand6
    		 Hand
    		 34(a)
    		 1 → many
    		 2L(10292781-10295299)


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

    Paralogs
    for HAND1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HAND1 gene
    TCF242  NHLH12  TWIST12  TWIST22  TAL12  HAND22  TCF232  LYL12  
    NHLH22  TAL22  TCF152  SCXB2  TCF212  MSC2  SCXA2  
    3 SIMAP similar genes for HAND1 using alignment to 1 protein entry:     HAND1_HUMAN:
    HAND2    NHLH1    NHLH2

    HAND1 for paralogs           About GeneDecksing



    Genomic Variants
    for HAND1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/76 NCBI SNPs in HAND1 are shown (see all 76)     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--153854371(+) 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
    		--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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HAND1: --
    Human Gene Mutation Database (HGMD): HAND1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HAND1
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    Disorders / Diseases
    for HAND1 gene

    (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.)
    About This Section
    HAND1 for disorders           About GeneDecksing

    OMIM gene information: 602406    OMIM disorders: --

    10 diseases for HAND1:    About MalaCards
    situs inversus    tetralogy of fallot    labyrinthitis    myxoma
    thyroid carcinoma    thyroiditis    cardiomyopathy    carcinoma
    malaria    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: HAND1 (1 document)

    Export disorders for HAND1 gene to outside databases

    Publications
    for HAND1 gene

    (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 55):
    (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. 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)
    3. Cloning, chromosomal mapping, and expression of the human eHAND gene. (PubMed id 9337404)1, 3 Russell M.W....Izumo S. (1997)
    4. 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)
    5. Negative regulation of selected bHLH proteins by eHAND. (PubMed id 10837146)1, 9 Bounpheng M.A....Christy B.A. (2000)
    6. 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)
    7. 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)
    8. Two novel HAND1 mutations in Chinese patients with ven tricular septal defect. (PubMed id 22032825)1 Cheng Z....Ma X. (2012)
    9. A Phox2- and Hand2-dependent Hand1 cis-regulatory elem ent reveals a unique gene dosage requirement for Hand2 during sympathetic neurog enesis. (PubMed id 22323723)1 Vincentz J.W....Firulli A.B. (2012)
    10. Sequence variations of NKX2-5 and HAND1 genes in pati ents with atrial isomerism. (PubMed id 21561848)1 Hatemi A.C....Erginel A9naltuna N. (2011)

    External Searches for HAND1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing HAND1 gene

    (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

    Other Databases showing HAND1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HAND1 gene

    (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

    Intellectual Property
    for HAND1 gene

    (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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