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

TGM5 Gene

protein-coding   GIFtS: 53
GCID: GC15M043527

transglutaminase 5

 Explore 14 diseases affiliated with
TGM5 via our new
 Human Malady Compendium 
Biological research products
for TGM5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transglutaminase 51 2     TGM62 5
TGX1 2 3 5     TGASE52
Transglutaminase X2 3     TGASEX2
TG(X)2 3     Protein-Glutamine Gamma-Glutamyltransferase 52
TGMX2 3     Transglutaminase V2
TGase-52 3     Transglutaminase-53
TGase X2 3     Transglutaminase-53
EC 2.3.2.133 8     

External Ids:    HGNC: 117811   Entrez Gene: 93332   Ensembl: ENSG000001040557   OMIM: 6038055   UniProtKB: O435483   

Export aliases for TGM5 gene to outside databases

Previous GC identifers: GC15M038893 GC15M036421 GC15M041104 GC15M041241 GC15M041312 GC15M020373


(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 TGM5:
This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein
cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This
reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. (provided
by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: TGM5_HUMAN, O43548
Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the
formation of the cornified cell envelope of keratinocytes




(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_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TGM5 gene promoter:
         HOXA9   HOXA9B   FAC1   AML1a   HOXA5   Sox9   Meis-1a   Ik-3   Meis-1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTGM5 promoter sequence
   Search SABiosciences Chromatin IP Primers for TGM5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TGM5


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

Entrez Gene cytogenetic band: 15q15.2   Ensembl cytogenetic band:  15q15.2   HGNC cytogenetic band: 15q15

TGM5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGM5 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M043527:  view genomic region     (about GC identifiers)

Start:
43,524,793 bp from pter      End:
43,559,055 bp from pter
Size:
34,263 bases      Orientation:
minus strand

(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: TGM5_HUMAN, O43548 (See protein sequence)
Recommended Name: Protein-glutamine gamma-glutamyltransferase 5  
Size: 720 amino acids; 80778 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Subcellular location: Cytoplasm. Note=Associated with intermediate filaments
Secondary accessions: O43549 Q0VF40 Q9UEZ4
Alternative splicing: 2 isoforms:  O43548-1   O43548-2   

Explore the universe of human proteins at neXtProt for TGM5: NX_O43548

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43548

  • 2 DME Specific Peptides for TGM5 (O43548)
     GFIYQGS  YGQCWVFA 

    TGM5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_004236.1  NP_963925.2  

    ENSEMBL proteins: 
     ENSP00000220420   ENSP00000220419  

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    Uscn Proteins for TGM5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--


    TGM5 for ontologies           About GeneDecksing



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

    TGM5 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR008958 Transglutaminase_C
     IPR014756 Ig_E-set
     IPR023608 Gln_gamma-glutamylTfrase_euk
     IPR001102 Transglutaminase_N
     IPR013808 Transglutaminase_CS

    Graphical View of Domain Structure for InterPro Entry O43548

    ProtoNet protein and cluster: O43548

    1 Blocks protein family: IPB002931 Transglutaminase-like domain

    UniProtKB/Swiss-Prot: TGM5_HUMAN, O43548
    Similarity: Belongs to the transglutaminase superfamily. Transglutaminase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TGM5_HUMAN, O43548
    Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the
    formation of the cornified cell envelope of keratinocytes
    Catalytic activity: Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3)
    Induction: By 12-O-tetradecanoylphorbol-13-acetate (TPA) and calcium in NHEK cells

    Enzyme Number (IUBMB): EC 2.3.2.131 2

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003810protein-glutamine gamma-glutamyltransferase activity IEA--
    GO:0046872metal ion binding IEA--


    TGM5 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TGM5:
     Synthetic lethal with c-Myc af 


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TGM5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TGM5 (ENSP000002204204) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KPNA1ENSP000003437014STRING: ENSP00000343701
    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:0006464cellular protein modification process TAS9452468
    GO:0008544epidermis development TAS9452468
    GO:0018149peptide cross-linking IEA--


    TGM5 for ontologies           About GeneDecksing



    (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

    TGM5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TGM5

    3 HMDB Compounds for TGM5    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    CalciumCa (see all 2)7440-70-2--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--

    1 DrugBank Compound for TGM5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17139284 15038793 17016423

    2 Novoseek chemical compound relationships for TGM5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 38.1 2 15290346 (2)
    calcium 0 1 9452468 (1)

    Search CenterWatch for drugs/clinical trials and news about TGM5 

    (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, 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 TGM5 gene (2 alternative transcripts): 
    NM_004245.3  NM_201631.3  

    Unigene Cluster for TGM5:

    Transglutaminase 5
    Hs.129719  [show with all ESTs]
    Unigene Representative Sequence: NM_201631
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000220420(uc001zrc.2 uc001zrd.2 uc001zre.2) ENST00000349114
    ENST00000396996 ENST00000563838

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    hsa-miR-19b hsa-miR-19a
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    Additional cDNA sequence: 

    AF035960.1 AF035961.1 AK298479.1 BC119009.1 BC122859.1 

    4 DOTS entries:

    DT.75148954  DT.91722904  DT.100661857  DT.99927398 

    9 AceView cDNA sequences:

    CB243274 BC039086 NM_201631 AF035960 BE140571 AF035961 NM_004245 BI831326 
    AI834226 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TGM5    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                          -                                                   
    SP2:                                -                                             


    ECgene alternative splicing isoforms for TGM5

    (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

    TGM5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCTCCCAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    TGM5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephrosKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TGM5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TGM5

    SOURCE GeneReport for Unigene cluster: Hs.129719

    UniProtKB/Swiss-Prot: TGM5_HUMAN, O43548
    Tissue specificity: Expressed in foreskin keratinocytes

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    In Situ
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    (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 TGM5 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    36(a)
    possible ortholog
    2(96677198-96686891)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    39(a)
    possible ortholog
    4(46352835-46372710)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5596911 protein-glutamine gamma-glutamyltransferase 2-like 54.25(n)
    44.12(a)
      559691  XM_683054.5  XP_688146.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tg6
    Transglutaminase
    29(a)
    possible ortholog
    2L(8011405-8026898)


    ENSEMBL Gene Tree for TGM5 (if available)
    TreeFam Gene Tree for TGM5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TGM5 gene
    EPB422  TGM12  TGM42  TGM32  F13A12  TGM72  TGM22  TGM62  
    9 SIMAP similar genes for TGM5 using alignment to 2 protein entries:     TGM5_HUMAN (see all proteins):
    TGM6    TGM3    TGM7    TGM2    hTGP    TGM4
    F13A1    TGM1    EPB42

    TGM5 for paralogs           About GeneDecksing



    (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

    10/569 NCBI SNPs in TGM5 are shown (see all 569    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1122925491,2
    C,F,pathogenic21036882(+) CCGACC/ACACGG 3 /G /C mis1 int12Minor allele frequency- A:0.00NA EU 5779
    rs5138151,2
    C,F,H,--20373211(+) TAGATG/ATCATA 2 -- ds500114Minor allele frequency- A:0.02EA NA NS 1224
    rs1121580371,2
    C,--20375283(+) GGAAGA/GCCGCA 2 -- int11Minor allele frequency- G:0.01NA 120
    rs1139310751,2
    --20377925(+) TGCCCC/TCCAGC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs747125771,2
    F,--20378965(+) GGAGTG/TGGTGG 2 -- int11Minor allele frequency- T:0.19WA 118
    rs760166641,2
    F,--20379078(+) GTAGAC/TGAACC 2 -- int11Minor allele frequency- T:0.04WA 118
    rs754463091,2
    F,--20379133(+) CCCACC/TGCCCT 2 -- int11Minor allele frequency- T:0.04NA 120
    rs125927951,2
    C,F,H--20379154(+) TGCCTG/TGCACC 2 -- int11Minor allele frequency- T:0.50NA 4
    rs757973361,2
    --20380500(+) ATCTCA/GTCTCA 2 -- int10--------
    rs727215641,2
    C,F,--20380876(+) GTATTC/AGGAGG 2 -- int11Minor allele frequency- A:0.02NA 120

    HapMap Linkage Disequilibrium report for TGM5 (43524793 - 43559055 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TGM5: --
    Human Gene Mutation Database (HGMD): TGM5

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    (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

    TGM5 for disorders           About GeneDecksing

    OMIM gene information: 603805   
    OMIM disorders: 609796  
    UniProtKB/Swiss-Prot: TGM5_HUMAN, O43548
  • Defects in TGM5 are a cause of peeling skin syndrome type A (APSS) [MIM:609796]. A non-inflammatory form of
  • peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis.
    In APSS patients, skin peeling is strictly limited to the dorsa of the hands and feet, and it is accompanied by
    accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows
    a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction

    14 diseases for TGM5:    About MalaCards
    peeling skin syndrome    peeling skin syndrome, acral type    congenital dyserythropoietic anemia type i    congenital ichthyosiform erythroderma
    congenital dyserythropoietic anemia    epidermolysis bullosa    dyserythropoietic anemia    epidermolysis bullosa simplex
    pernicious anemia    aortic atherosclerosis    anemia    lung cancer
    atherosclerosis    immunodeficiency

    Human Genome Epidemiology (HuGE) Navigator: TGM5 (1 document)

    Export disorders for TGM5 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 TGM5 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with TGM5)
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    1. Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z. (PubMed id 11390390)1, 2, 3, 9 Grenard P....Aeschlimann D. (2001)
    2. Isolation of a cDNA encoding a novel member of the transglutaminase gene family from human keratinocytes. Detection and identification of transglutaminase gene products based on reverse transcription- polymerase chain reaction with degenerate primers. (PubMed id 9452468)1, 2, 3, 9 Aeschlimann D.... Mosher D.F. (1998)
    3. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. (PubMed id 16380904)1, 2, 9 Cassidy A.J....McLean W.H.I. (2005)
    4. Transglutaminase 5 is acetylated at the N-terminal end. (PubMed id 15290349)1, 2, 9 Rufini A.... Candi E. (2004)
    5. 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)
    6. Expression of transglutaminase 5 in normal and pathologic human epidermis. (PubMed id 12230511)1, 9 Candi E....Melino G. (2002)
    7. Overexpressed transglutaminase 5 triggers cell death. (PubMed id 15290346)1, 9 Cadot B....Candi E. (2004)
    8. Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells. (PubMed id 18509357)1, 9 Pietroni V....Melino G. (2008)
    9. Transglutaminase 5 expression in human hair follicle. (PubMed id 16117804)1, 9 Thibaut S....Bernard B.A. (2005)
    10. Transglutaminase 5 is regulated by guanine-adenine nucleotides. (PubMed id 15038793)7, 9 Candi E....Melino G. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9333 HGNC: 11781 AceView: TGM5 Ensembl:ENSG00000104055 euGenes: HUgn9333
    ECgene: TGM5 H-InvDB: TGM5

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for TGM5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for TGM5 gene:
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