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

HEMGN Gene

protein-coding   GIFtS: 47
GCID: GC09M100689

Hemogen

  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
hemogen1 2     Negative Differentiation Regulator Protein2 3
EDAG2 3 5     EDAG-12 3
Erythroid Differentiation-Associated Gene Protein2 3     NDR3
Hemopoietic Gene Protein2 3     

External Ids:    HGNC: 175091   Entrez Gene: 553632   Ensembl: ENSG000001369297   OMIM: 6107155   UniProtKB: Q9BXL53   

Export aliases for HEMGN gene to outside databases

Previous GC identifers: GC09M091514 GC09M092432 GC09M094146 GC09M096068 GC09M097768 GC09M099729 GC09M070290


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

GeneCards Summary for HEMGN Gene: 
HEMGN (hemogen) is a protein-coding gene. Diseases associated with HEMGN include cleft palate, isolated, and cleft palate. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: HEMGN_HUMAN, Q9BXL5
Function: Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the
TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the
activation of the nuclear factor-kappa B (NF-kB)

Gene Wiki entry for HEMGN 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_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HEMGN gene promoter:
         AREB6   AML1a   FOXJ2 (long isoform)   IRF-7A   FOXJ2   Pax-4a   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHEMGN promoter sequence
   Search SABiosciences Chromatin IP Primers for HEMGN

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


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

Entrez Gene cytogenetic band: 9q22.33   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22.33

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M100689:  view genomic region     (about GC identifiers)

Start:
100,689,073 bp from pter      End:
100,707,138 bp from pter
Size:
18,066 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: HEMGN_HUMAN, Q9BXL5 (See protein sequence)
Recommended Name: Hemogen  
Size: 484 amino acids; 55341 Da
Subcellular location: Nucleus
Developmental stage: Expressed in fetal liver, kidney and brain
Sequence caution: Sequence=AAF67133.1; Type=Erroneous initiation; Sequence=AAF71041.1; Type=Erroneous initiation;
Sequence=AAG35488.1; Type=Erroneous initiation;
Secondary accessions: Q6XAR3 Q86XY5 Q9NPC0

Explore the universe of human proteins at neXtProt for HEMGN: NX_Q9BXL5

Explore proteomics data for HEMGN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXL5

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

    HEMGN Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_060907.2  NP_932095.1  

    ENSEMBL proteins: 
     ENSP00000259456  

    Human Recombinant Protein Products for HEMGN: 
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    Novus Biologicals HEMGN Protein
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    Cloud-Clone Corp. Proteins for HEMGN 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm IEA--

    HEMGN for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q9BXL5


    (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: HEMGN_HUMAN, Q9BXL5
    Function: Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the
    TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the
    activation of the nuclear factor-kappa B (NF-kB)
    Induction: Down-regulated during megakaryocytic differentiation of K562 cells by
    12-O-tetradecanoylphorbol-13-acetate (TPA) (at protein level). Up-regulated in normal PBMCs by mitogens

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    HEMGN for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HEMGN:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HEMGN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HEMGN

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    hsa-miR-3163 hsa-miR-181c hsa-miR-181a hsa-miR-551b* hsa-miR-181d hsa-miR-338-5p hsa-miR-493* hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidHEMGN 3' UTR sequence
    Inhib. RNA
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    (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



    Interactions:

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

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/40 Interacting proteins for HEMGN (Q9BXL51, 2 ENSP000002594564) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPM1P067482MINT-8373211 MINT-8373408 MINT-8373290 MINT-8373312 MINT-8373326 MINT-8373269 MINT-8373241
    CBX5P459732, ENSP000002098754MINT-7220149 STRING: ENSP00000209875
    CTBP1Q133631, ENSP000002909214EBI-3916399,EBI-908846 STRING: ENSP00000290921
    ACTBP607092MINT-7220149
    CHAF1AQ131112MINT-7220149
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0030154cell differentiation IEA--
    GO:0045667regulation of osteoblast differentiation IEA--

    HEMGN 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 HEMGN

    Search CenterWatch for drugs/clinical trials and news about HEMGN

    (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 HEMGN gene (2 alternative transcripts): 
    NM_018437.4  NM_197978.2  

    Unigene Cluster for HEMGN:

    Hemogen
    Hs.176626  [show with all ESTs]
    Unigene Representative Sequence: AY244805
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000259456
    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate HEMGN (see all 11):
    hsa-miR-3163 hsa-miR-181c hsa-miR-181a hsa-miR-551b* hsa-miR-181d hsa-miR-338-5p hsa-miR-493* hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidHEMGN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEMGN

    Additional mRNA sequence: 

    AF116617.1 AF228713.2 AF306681.1 AF306682.1 AF306683.1 AF322875.1 AK292441.1 AL833094.1 
    AY244805.1 AY255672.1 BC048324.1 

    6 DOTS entries:

    DT.420059  DT.100654530  DT.95272874  DT.121168421  DT.70103439  DT.40277937 

    24/73 AceView cDNA sequences (see all 73):

    BX099803 AY255672 NM_018437 AA676259 AF306682 BP369905 NM_197978 AF322875 
    AA496130 AF306683 AF130060 AL597698 AI114455 BG571634 AL833094 BI772146 
    BC048324 AW965044 AW956520 AA431795 AA703264 AF306681 AA421187 BG941050 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HEMGN (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b
    SP1:              -     -     -     -     -                                                         
    SP2:                                -     -                                                         
    SP3:                                      -                                                         
    SP4:                                      -                                                         
    SP5:                                                                                                


    ECgene alternative splicing isoforms for HEMGN

    (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

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


    HEMGN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Bone Marrow CD105+ Cells   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Liver Bud
             Liver Lobule
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Testis (Reproductive System)
             testis ; cells in seminiferus ducts   
     
     Gonad
             Primordial Germ Cells Allantois

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

    SOURCE GeneReport for Unigene cluster: Hs.176626

    UniProtKB/Swiss-Prot: HEMGN_HUMAN, Q9BXL5
    Tissue specificity: Expressed in hematopoietic precursor cells (at protein level). Detected in CD34+ and K-562
    leukemia cell lines (at protein level). Expressed in bone marrow, testis, thymus. Also expressed in thymus and
    thyroid tumors, non-Hodgkin lymphoma, various leukemia cell lines, peripheral blood mononuclear cells (PBMCs) and
    bone marrow mononuclear cells (BMMCs) of patients with leukemia

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEMGN

    (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 chordates.

    Orthologs for HEMGN gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hemgn1 , 5 hemogen1, 5 69.75(n)1
    51.54(a)1
      4 (24.73 cM)5
    939661  NM_053149.21  NP_444379.11 
     463939895 
    chicken
    (Gallus gallus)
    Aves HEMGN6
    hemogen
    32(a)
    1 ↔ 1
    Z(70487737-70492461)
    lizard
    (Anolis carolinensis)
    Reptilia HEMGN6
    Uncharacterized protein
    38(a)
    1 ↔ 1
    GL343544.1(215994-220919)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/405 SNPs in HEMGN are shown (see all 405)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs70309071,2
    C,F,A,H--100688577(+) ATTTAC/TCATAT 2 -- int19Minor allele frequency- T:0.19NS EA CSA WA NA 780
    rs1899120061,2
    --100688694(+) CTAGTA/TATATG 2 -- int10--------
    rs1812230971,2
    C--100689026(+) TTAGAC/TAGGTC 2 -- int10--------
    rs1858227621,2
    --100689043(+) CCTCCA/GCAATT 2 -- int10--------
    rs773572031,2
    C--100689107(+) TTGTGA/CACAAA 2 -- ut310--------
    rs1920660441,2
    --100689370(+) TAGGGA/GGGAAA 2 -- ut310--------
    rs772531431,2
    C,F--100689375(+) GGGAAA/TACCAA 2 -- ut311Minor allele frequency- T:0.03WA 118
    rs348257701,2
    C--100689451(+) TACAT-/ACACACA 2 -- ut310--------
    rs721094221,2
    C--100689451(+) TACAT-/ACA   
       CACAC
    ACACA
    2 -- ut310--------
    rs591776581,2
    C--100689452(+) ACACA-/CACACAC 2 -- ut312Minor allele frequency- CA:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for HEMGN (100689073 - 100707138 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HEMGN:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv893611CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HEMGN
    DNA2.0 Custom Variant and Variant Library Synthesis for HEMGN

    (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: 610715    OMIM disorders: --

    7 diseases for HEMGN:    About MalaCards
    cleft palate, isolated    cleft palate    hodgkin's lymphoma    non-hodgkin lymphoma
    cleft lip    thyroiditis    leukemia


    HEMGN for disorders           About GeneDecksing

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

    Export disorders for HEMGN 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 HEMGN gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with HEMGN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternative promoters and polyadenylation regulate tissue-specific expression of Hemogen isoforms during hematopoiesis and spermatogenesis. (PubMed id 14648837)1, 2, 9 Yang L.V.... Li L. (2003)
    2. Genome-wide association studies in an isolated founde r population from the Pacific Island of Kosrae. (PubMed id 19197348)1, 4 Lowe J.K....Friedman J.M. (2009)
    3. FOXE1 association with both isolated cleft lip with o r without cleft palate, and isolated cleft palate. (PubMed id 19779022)1, 4 Moreno L.M....Lidral A.C. (2009)
    4. High expression of EDAG and its significance in AML. (PubMed id 15920494)1, 2 An L.-L....Song Y.-H. (2005)
    5. EDAG regulates the proliferation and differentiation of hematopoietic cells and resists cell apoptosis through the activation of nuclear factor-kappa B. (PubMed id 15332117)1, 2 Li C.Y.... Yang X.M. (2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    7. 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)
    8. Down-regulation of human NDR gene in megakaryocytic differentiation of erythroleukemia K562 cells. (PubMed id 14730214)1, 2 Liu C.-C.... Ch'ang L.-Y. (2004)
    9. Hemogen is a novel nuclear factor specifically expressed in mouse hematopoietic development and its human homologue EDAG maps to chromosome 9q22, a region containing breakpoints of hematological neoplasms. (PubMed id 11404085)1, 2 Yang L.V.... Li L. (2001)
    10. Erythroid differentiation-associated gene interacts wi th NPM1 (nucleophosmin/B23) and increases its protein stability, resisting cell apoptosis. (PubMed id 22712502)1 Zhang M.J....Yang X.M. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55363 HGNC: 17509 AceView: HEMGN Ensembl:ENSG00000136929 euGenes: HUgn55363
    ECgene: HEMGN H-InvDB: HEMGN

    (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 HEMGN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HEMGN gene:
    Search GeneIP for patents involving HEMGN

    GeneCards and IP:
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