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

HAND2 Gene

protein-coding   GIFtS: 59
GCID: GC04M174447

Heart And Neural Crest Derivatives Expressed 2

  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 21 2     Thing22
Class A Basic Helix-Loop-Helix Protein 262 3     Basic Helix-Loop-Helix Transcription Factor HAND22
Deciduum, Heart, Autonomic Nervous System And Neural Crest
Derivatives-Expressed Protein 22 3
     dHand2
bHLHa262 3     Heart- And Neural Crest Derivatives-Expressed Protein 22
DHAND22 5     BHLHA263
DHAND3 5     dHAND3
Hed2     

External Ids:    HGNC: 48081   Entrez Gene: 94642   Ensembl: ENSG000001641077   OMIM: 6024075   UniProtKB: P612963   

Export aliases for HAND2 gene to outside databases

Previous GC identifers: GC04M175366 GC04M174984 GC04M175142 GC04M174820 GC04M174685 GC04M170194


(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 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 split hand, and among its related super-pathways are Signaling Involved in Cardiac Hypertrophy. GO annotations related to this gene include protein homodimerization activity and transcription factor binding. An important paralog of this gene is NHLH1.

UniProtKB/Swiss-Prot: HAND2_HUMAN, P61296
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 Wiki entry for HAND2 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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HAND2 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   Nkx2-5   MEF-2A   AP-2alpha isoform 4   aMEF-2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAND2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HAND2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HAND2


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

Entrez Gene cytogenetic band: 4q33   Ensembl cytogenetic band:  4q34.1   HGNC cytogenetic band: 4q33

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M174447:  view genomic region     (about GC identifiers)

Start:
174,446,120 bp from pter      End:
174,451,380 bp from pter
Size:
5,261 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: HAND2_HUMAN, P61296 (See protein sequence)
Recommended Name: Heart- and neural crest derivatives-expressed protein 2  
Size: 217 amino acids; 23666 Da
Subunit: 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)
Subcellular location: Nucleus (By similarity)
Developmental stage: Expressed in the fetal heart
Secondary accessions: B6ECG9 O95300 O95301 P97833

Explore the universe of human proteins at neXtProt for HAND2: NX_P61296

Explore proteomics data for HAND2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P61296

  • HAND2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HAND2 Protein Expression
    REFSEQ proteins: NP_068808.1  
    ENSEMBL proteins: 
     ENSP00000427084   ENSP00000352565  

    Human Recombinant Protein Products for HAND2: 
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    Novus Biologicals HAND2 Proteins
    Novus Biologicals HAND2 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HAND2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA16280598
    GO:0005634nucleus ----
    GO:0005667transcription factor complex ISS--
    GO:0043234protein complex IDA15486975

    HAND2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for HAND2


    (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 P61296

    ProtoNet protein and cluster: P61296

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

    UniProtKB/Swiss-Prot: HAND2_HUMAN, P61296
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    HAND2 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: HAND2_HUMAN, P61296
    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)

         Genatlas biochemistry entry for HAND2:
    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

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding IDA16280598
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA15486975
    GO:0003680AT DNA binding IDA15486975
    GO:0003713transcription coactivator activity ISS--
    GO:0005515protein binding IPI15486975
         
    HAND2 for ontologies           About GeneDecksing


    Phenotypes:
         15/18 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Hand2) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 

    HAND2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HAND2: Hand2tm1Eno Hand2tm1.2Zllr Hand2tm1Dsr

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HAND2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HAND2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HAND2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HAND2 

    miRNA
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    miRTarBase miRNAs that target HAND2:
    hsa-mir-1 (MIRT001843)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HAND2
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate HAND2 (see all 34):
    hsa-miR-140-5p hsa-miR-607 hsa-miR-128 hsa-miR-25 hsa-miR-519a hsa-miR-877* hsa-miR-3909 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidHAND2 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAND2


    (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 HAND2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy0.42
    Signaling Involved in Cardiac Hypertrophy0.42
    2Heart Development
    Heart Development

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HAND2
        NFAT and Cardiac Hypertrophy
    Signaling Involved in Cardiac Hypertrophy

    1 BioSystems Pathway for HAND2
        Heart Development


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HAND2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/16 Interacting proteins for HAND2 (P612963 ENSP000003525654) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS5Q929053, ENSP000003505124I2D: score=2 STRING: ENSP00000350512
    HEYLQ9NQ873, ENSP000003619434I2D: score=2 STRING: ENSP00000361943
    PHOX2AO148133, ENSP000002982314I2D: score=2 STRING: ENSP00000298231
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    TCF3P159233, ENSP000002629654I2D: score=3 STRING: ENSP00000262965
    About this table

    Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001701in utero embryonic development ISS--
    GO:0001947heart looping ISS--
    GO:0001967suckling behavior IEA--
    GO:0003007heart morphogenesis ISS--

    HAND2 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

    HAND2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HAND2

    3 Novoseek inferred chemical compound relationships for HAND2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    norepinephrine 25.4 2 14512028 (1), 16280598 (1)
    tyrosine 0 3 18724272 (1), 15649470 (1)
    dopamine 0 3 16280598 (1), 14506227 (1)

    Search CenterWatch for drugs/clinical trials and news about HAND2

    (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 HAND2 gene: 
    NM_021973.2  

    Unigene Cluster for HAND2:

    Heart and neural crest derivatives expressed 2
    Hs.388245  [show with all ESTs]
    Unigene Representative Sequence: NM_021973
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503024 ENST00000359562(uc003itg.1 uc003ith.1) ENST00000505300

    miRNA
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    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate HAND2 (see all 34):
    hsa-miR-140-5p hsa-miR-607 hsa-miR-128 hsa-miR-25 hsa-miR-519a hsa-miR-877* hsa-miR-3909 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidHAND2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF087940.1 AK122739.1 BC101406.1 BC101974.1 BC109383.1 FJ226608.1 

    6 DOTS entries:

    DT.441870  DT.101967388  DT.101959298  DT.121217200  DT.121217204  DT.95269853 

    24/56 AceView cDNA sequences (see all 56):

    AW872910 AA402116 CR613998 BP375336 AA228069 AA553383 CB216748 AI021959 
    AA228070 BI042907 BM730141 BG953656 BU624590 CF527763 AL709273 AF087940 
    AA232841 R98937 AI382843 BQ788078 BX283484 BI195868 AA262355 BQ011016 

    GeneLoc Exon Structure


    (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

    HAND2 expression in normal human tissues (normalized intensities)      HAND2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCTGCTGG
    HAND2 Expression
    About this image


    HAND2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/46 selected tissues (see all 46) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 10 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Cardiac progenitor cells (Sca1+)
             heart muscle ; myocytes   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             nerve/cranial/trigeminal V   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             Cardiac Neural Crest Cells Cardiac Neural Crest
             PureStem MEL2, NCr-fac Progenitor
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
             autonomic/sympathetic/ganglion   

    See HAND2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HAND2

    SOURCE GeneReport for Unigene cluster: Hs.388245

    UniProtKB/Swiss-Prot: HAND2_HUMAN, P61296
    Tissue specificity: Heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including HAND2: 
              Cell Lineage Identification in human mouse rat
              Transcription Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAND2

    (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 HAND2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hand21 , 5 heart and neural crest derivatives expressed transcript more1, 5 94.32(n)1
    100(a)1
      8 (29.80 cM)5
    151111  NM_010402.41  NP_034532.31 
     573209835 
    lizard
    (Anolis carolinensis)
    Reptilia HAND26
    Uncharacterized protein
    84(a)
    1 ↔ 1
    3(144377788-144392493)
    African clawed frog
    (Xenopus laevis)
    Amphibia hand2-A2 heart and neural crest derivatives expressed 2 83.22(n)    AF286645.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hand22 heart and neural crest derivatives expressed transcript more 75.19(n)   58150  AF228334.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hand1 CG18144-PA 51.47(n)
    60.8(a)
      34379  NM_135526.2  NP_609370.2 
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-136
    Helix-loop-helix protein 13
    22(a)
    possible ortholog
    X(4249249-4250764)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HAND2 gene
    NHLH12  TWIST12  TWIST22  TAL12  NHLH22  LYL12  TAL22  TCF152  
    SCXB2  HAND12  SCXA2  
    9 SIMAP similar genes for HAND2 using alignment to 6 protein entries:     HAND2_HUMAN (see all proteins):
    HAND1    TCF21    TAL2    NHLH2    SCL    SCXA
    SCXB    TCF24    TCF15

    HAND2 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

    10/59 SNPs in HAND2 are shown (see all 59)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs595172481,2
    C--174447159(+) CACCCC/GCCTTT 1 -- ds50014Minor allele frequency- G:0.14NA WA EA 360
    rs1121757691,2
    C,F--174447160(+) ACCCCC/GCTTTC 1 -- ds50012Minor allele frequency- G:0.08WA 120
    rs1502215221,2
    C--174447233(+) TTTTT-/TCTTGG 1 -- ds50010--------
    rs105202601,2
    C,F,H--174447349(+) TCTCCA/GAACAA 1 -- ds5001106Minor allele frequency- G:0.23NS EA NA PA EU CA WA CSA 6788
    rs131413561,2
    C,F,H--174447362(+) ACTGAC/AGGCCT 1 -- ds500123Minor allele frequency- A:0.15NA NS EA WA 2900
    rs21197881,2
    C,F,O,A,H--174447389(-) CTGAAA/GTCAAT 1 -- ds5001117Minor allele frequency- N:0.00NS EA NA PA EU CA WA CSA 7614
    rs1445256751,2
    --174447538(+) CATTTA/GCAGGA 1 -- ds50010--------
    rs1898904591,2
    --174447589(+) CCTGCA/GTAGGC 1 -- ds50010--------
    rs1484560751,2
    C--174447675(+) CTTCTA/GAATAT 1 -- ut310--------
    rs765252591,2
    C--174447720(+) TTTTCA/CAAACT 1 -- ut312Minor allele frequency- C:0.19CSA WA 119

    HapMap Linkage Disequilibrium report for HAND2 (174446120 - 174451380 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HAND2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv522261CNV Loss19592680
    nsv881020CNV Loss21882294
    nsv880913CNV Loss21882294
    nsv518998CNV Loss19592680


    Human Gene Mutation Database (HGMD): HAND2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HAND2
    DNA2.0 Custom Variant and Variant Library Synthesis for HAND2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602407    OMIM disorders: --

    9 diseases for HAND2:    About MalaCards
    saethre-chotzen syndrome    split hand    split hand foot malformation    congenital heart defect
    polydactyly    cleft palate    cleft lip    neuroblastoma
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for HAND2:
    Polydactyly     Congenital heart defect

    HAND2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for HAND2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    saethre-chotzen syndrome 73.1 1 15735646 (1)

    Genetic Association Database (GAD): HAND2
    Human Genome Epidemiology (HuGE) Navigator: HAND2 (2 documents)

    Export disorders for HAND2 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 HAND2 gene, integrated from 9 sources (see all 71):
    (articles sorted by number of sources associating them with HAND2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human HAND2 gene. (PubMed id 9878849)1, 2, 3 Russell M.W.... Izumo S. (1998)
    2. Transcription factor HAND2 mutations in sporadic Chin ese patients with congenital heart disease. (PubMed id 20819618)1, 4 Shen L....Li Z.Z. (2010)
    3. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    4. Co-regulated expression of HAND2 and DEIN by a bidirectional promoter with asymmetrical activity in neuroblastoma. (PubMed id 19348682)1, 2 Voth H.... Fischer M. (2009)
    5. The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA. (PubMed id 14506227)1, 9 Rychlik J.L....Lewis E.J. (2003)
    6. Cardiac neural crest expression of Hand2 regulates outflow and second heart field development. (PubMed id 19008477)1, 9 Morikawa Y. and Cserjesi P. (2008)
    7. Cooperative activation of atrial naturetic peptide promoter by dHAND and MEF2C. (PubMed id 15486975)1, 9 Zang M.X....Jing H. (2004)
    8. Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type. (PubMed id 16280598)1, 9 Rychlik J.L....Lewis E.J. (2005)
    9. A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart. (PubMed id 11076755)1, 9 McFadden D.G....Olson E.N. (2000)
    10. PKA, PKC, and the protein phosphatase 2A influence HAND factor function: a mechanism for tissue-specific transcriptional regulation. (PubMed id 14636580)1, 9 Firulli B.A....Firulli A.B. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 9464 HGNC: 4808 AceView: HAND2 Ensembl:ENSG00000164107 euGenes: HUgn9464
    ECgene: HAND2 H-InvDB: HAND2

    (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 HAND2 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 HAND2 gene:
    Search GeneIP for patents involving HAND2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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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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