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TRIM32 Gene

protein-coding   GIFtS: 67
GCID: GC09P119449

Tripartite Motif Containing 32

(Previous names: limb girdle muscular dystrophy 2H (autosomal recessive),...)
(Previous symbol: LGMD2H)
  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)
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Aliases
Tripartite Motif Containing 321 2     BBS112 5
LGMD2H1 2 5     Limb Girdle Muscular Dystrophy 2H (Autosomal Recessive)1
HT2A2 3 5     TATIP2
Tripartite Motif-Containing 321 2     E3 Ubiquitin-Protein Ligase TRIM322
Tripartite Motif-Containing Protein 322 3     TAT-Interactive Protein, 72-KD2
Zinc Finger Protein HT2A2 3     Zinc-Finger Protein HT2A2
72 KDa Tat-Interacting Protein2 3     EC 6.3.2.-3

External Ids:    HGNC: 163801   Entrez Gene: 229542   Ensembl: ENSG000001194017   OMIM: 6022905   UniProtKB: Q130493   

Export aliases for TRIM32 gene to outside databases

Previous GC identifers: GC09P110277 GC09P111098 GC09P112903 GC09P114825 GC09P116529 GC09P118489 GC09P089054


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TRIM32 Gene:
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three
zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes
to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation
domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. (provided by RefSeq, Jul
2008)

GeneCards Summary for TRIM32 Gene:
TRIM32 (tripartite motif containing 32) is a protein-coding gene. Diseases associated with TRIM32 include trim32-related bardet-biedl syndrome, and bardet-biedl syndrome 11. GO annotations related to this gene include transcription coactivator activity and RNA binding. An important paralog of this gene is NHLRC4.

UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049
Function: Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May
ubiquitinate BBS2. May play a significant role in mediating the biological activity of the HIV-1 Tat protein in
vivo. Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat
proteins in vivo

Gene Wiki entry for TRIM32 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TRIM32 gene promoter:
         USF1   HOXA3   GATA-3   USF-1   HSF2   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRIM32 promoter sequence
   Search Chromatin IP Primers for TRIM32

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRIM32


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

Entrez Gene cytogenetic band: 9q33.1   Ensembl cytogenetic band:  9q33.1   HGNC cytogenetic band: 9q33.1

TRIM32 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRIM32 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P119449:  view genomic region     (about GC identifiers)

Start:
119,449,581 bp from pter      End:
119,463,579 bp from pter
Size:
13,999 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase TRIM32  
Size: 653 amino acids; 71989 Da
Subunit: Interacts with DTNBP1. It self-associates
1 PDB 3D structure from and Proteopedia for TRIM32:
2CT2 (3D)    
Secondary accessions: Q9NQP8

Explore the universe of human proteins at neXtProt for TRIM32: NX_Q13049

Explore proteomics data for TRIM32 at MOPED

Post-translational modifications: 

  • Ubiquitinated1
  • Ubiquitination2 at Lys175, Lys204, Lys215, Lys282, Lys471, Lys506, Lys627
  • Modification sites at PhosphoSitePlus

  • See TRIM32 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001093149.1  NP_036342.2  

    ENSEMBL proteins: 
     ENSP00000363095   ENSP00000412603   ENSP00000408292  
    Reactome Protein details: Q13049

    TRIM32 Human Recombinant Protein Products:

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    Novus Biologicals TRIM32 Proteins
    Novus Biologicals TRIM32 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TRIM32

    TRIM32 Antibody Products:

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    TRIM32 Assay Products:

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    Cloud-Clone Corp. ELISAs for TRIM32
    Cloud-Clone Corp. CLIAs for TRIM32


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TRIM: Tripartite motif containing / Tripartite motif containing
    RNF: RING-type (C3HC4) zinc fingers

    Selected InterPro protein domains (see all 8):
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR011042 6-blade_b-propeller_TolB-like
     IPR000315 Znf_B-box
     IPR013017 NHL_repeat_subgr

    Graphical View of Domain Structure for InterPro Entry Q13049

    ProtoNet protein and cluster: Q13049

    2 Blocks protein domains:
    IPB000315 B-box zinc finger signature
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049
    Similarity: Belongs to the TRIM/RBCC family
    Similarity: Contains 1 B box-type zinc finger
    Similarity: Contains 5 NHL repeats
    Similarity: Contains 1 RING-type zinc finger


    TRIM32 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRI32_HUMAN, Q13049
    Function: Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May
    ubiquitinate BBS2. May play a significant role in mediating the biological activity of the HIV-1 Tat protein in
    vivo. Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat
    proteins in vivo

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity TAS7778269
    GO:0003723RNA binding ISS--
    GO:0004842ubiquitin-protein ligase activity IDA16816390
    GO:0005515protein binding IPI16189514
    GO:0008270zinc ion binding IEA--
         
    TRIM32 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TRIM32:
     Increased cell death HMECs cel 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Trim32):
     behavior/neurological  growth/size/body  homeostasis/metabolism  muscle  nervous system 
     reproductive system 

    TRIM32 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRIM32
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TRIM32

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRIM32
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRIM32

    miRNA
    Products:
        
    miRTarBase miRNAs that target TRIM32:
    hsa-mir-16-5p (MIRT031385), hsa-mir-155-5p (MIRT001492)

    Block miRNA regulation of human, mouse, rat TRIM32 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TRIM32 (see all 10):
    hsa-miR-320a hsa-miR-3688-3p hsa-miR-320d hsa-miR-944 hsa-miR-551b* hsa-miR-1291 hsa-miR-320b hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidTRIM32 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TRIM32
    Predesigned siRNA for gene silencing in human, mouse, rat TRIM32

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TRIM32

    Clone
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    OriGene clones in human, mouse for TRIM32 (see all 12)
    OriGene ORF clones in mouse, rat for TRIM32
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TRIM32 (NM_012210)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRIM32
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRIM32

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TRIM32 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRIM32


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRI32_HUMAN, Q13049: Cytoplasm. Note=Localized in cytoplasmic bodies, often located around the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    nucleus3
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IDA19349376
    GO:0005829cytosol TAS--
    GO:0005863colocalizes with striated muscle myosin thick filament ISS--

    TRIM32 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TRIM32 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Cytosolic sensors of pathogen-associated DNA
    Cytosolic sensors of pathogen-associated DNA0.38
    Regulation of innate immune responses to cytosolic DNA0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for TRIM32
        Antigen processing: Ubiquitination & Proteasome degradation
    Regulation of innate immune responses to cytosolic DNA


    1 Kegg Pathway  (Kegg details for TRIM32):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049
    Pathway: Protein modification; protein ubiquitination


    TRIM32 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TRIM32: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TRIM32

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TRIM32 (Q130491, 2, 3 ENSP000003630954) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542531, 2, 3, ENSP000002447694EBI-742790,EBI-930964 MINT-2870068 MINT-2855353 I2D: score=3 STRING: ENSP00000244769
    SFNP319472, 3, ENSP000003409894MINT-3975886 I2D: score=2 STRING: ENSP00000340989
    ENSG00000215641P143733I2D: score=1 
    ENSG00000229006P143733I2D: score=1 
    ENSG00000234495P143733I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA18632609
    GO:0009411response to UV ISS--
    GO:0016567protein ubiquitination IDA16816390
    GO:0030307positive regulation of cell growth IDA18632609
    GO:0030335positive regulation of cell migration IDA18632609

    TRIM32 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TRIM32 (TRI32)

    4 HMDB Compounds for TRIM32    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TRIM32 gene (2 alternative transcripts): 
    NM_001099679.1  NM_012210.3  

    Unigene Cluster for TRIM32:

    Tripartite motif containing 32
    Hs.591910  [show with all ESTs]
    Unigene Representative Sequence: NM_012210
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373983 ENST00000411410 ENST00000450136(uc004bjw.2 uc004bjx.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat TRIM32 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TRIM32 (see all 10):
    hsa-miR-320a hsa-miR-3688-3p hsa-miR-320d hsa-miR-944 hsa-miR-551b* hsa-miR-1291 hsa-miR-320b hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidTRIM32 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): TRIM32 (NM_012210)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TRIM32
      QuantiTect SYBR Green Assays in human, mouse, rat TRIM32
      QuantiFast Probe-based Assays in human, mouse, rat TRIM32

    Additional mRNA sequence: 

    AK314264.1 BC003154.1 U18543.1 

    10 DOTS entries:

    DT.113837  DT.100748579  DT.208964  DT.95305801  DT.121144140  DT.121143913  DT.91712540  DT.100748576 
    DT.91762298  DT.121144254 

    Selected AceView cDNA sequences (see all 125):

    BQ954116 CR610656 CA439275 AL574845 BQ002866 AW292313 AW613669 CR605953 
    AL046747 BX402162 AI273285 AL551202 AW513159 BQ220782 BM454451 AA985161 
    BU176529 AW026649 AI298417 BU754351 AW375862 AL562643 BU192950 BE296619 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TRIM32 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGAAATTT
    TRIM32 Expression
    About this image


    TRIM32 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer
    TRIM32 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRIM32 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591910

    UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049
    Tissue specificity: Spleen, thymus, prostate, testis, ovary, intestine, colon and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including TRIM32: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TRIM32
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRIM32

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TRIM32 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trim321 , 5 tripartite motif-containing 321, 5 87.99(n)1
    96.32(a)1
      4 (34.43 cM)5
    698071  NM_001161782.11  NP_001155254.11 
     656049865 
    chicken
    (Gallus gallus)
    Aves TRIM321 tripartite motif containing 32 74.77(n)
    83.72(a)
      101748429  XM_004951102.1  XP_004951159.1 
    lizard
    (Anolis carolinensis)
    Reptilia TRIM326
    tripartite motif containing 32
    84(a)
    1 ↔ 1
    GL343541.1(325273-327234)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia trim321 tripartite motif containing 32 66.72(n)
    72.71(a)
      100124994  NM_001102923.1  NP_001096393.1 
    zebrafish
    (Danio rerio)
    Actinopterygii trim321 tripartite motif-containing 32 63.89(n)
    64.71(a)
      562764  NM_001113594.1  NP_001107066.1 


    ENSEMBL Gene Tree for TRIM32 (if available)
    TreeFam Gene Tree for TRIM32 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TRIM32 gene
    NHLRC42  
    1 SIMAP similar gene for TRIM32 using alignment to 2 protein entries:     TRI32_HUMAN (see all proteins):
    TRIM68

    TRIM32 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    8 SNPs for TRIM32    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0187254
    Limb-girdle muscular dystrophy 2H (LGMD2H)4--see VAR_0187252 D N mis40--------
    VAR_0388074
    Bardet-Biedl syndrome 11 (BBS11)4--see VAR_0388072 P S mis40--------
    VAR_0429394
    Limb-girdle muscular dystrophy 2H (LGMD2H)4--see VAR_0429392 R H mis40--------
    rs37478351,2,,4
    C,F,Huntested1119473219(+) AAATCC/TGCCGC 4 R C mis1 ese39Minor allele frequency- T:0.00EA NS NA EU 7169
    rs37478341,2,4
    ----see VAR_0388082 mis40--------
    VAR_0662954
    ----see VAR_0662952 R Q mis40--------
    rs1214344471,2
    --pathogenic1119473178(+) CTATCA/GTATAC 4 H R mis10--------

    HapMap Linkage Disequilibrium report for TRIM32 (119449581 - 119463579 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TRIM32:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893776CNV Loss21882294
    nsv893777CNV Loss21882294
    nsv831702CNV Gain17160897
    nsv7434OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): TRIM32
    Locus Specific Mutation Databases (LSDB): TRIM32

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRIM32
    DNA2.0 Custom Variant and Variant Library Synthesis for TRIM32

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602290   
    OMIM disorders: 254110  209900  
    UniProtKB/Swiss-Prot: TRI32_HUMAN, Q13049
  • Limb-girdle muscular dystrophy 2H (LGMD2H) [MIM:254110]: An autosomal recessive degenerative myopathy
    characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity
    are highly variable. Disease progression is slow and most patients remain ambulatory into the sixth decade of
    life. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Bardet-Biedl syndrome 11 (BBS11) [MIM:209900]: A syndrome characterized by usually severe pigmentary
    retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
    Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry. It has been suggested that TRIM32 might be the E3 ubiquitin ligase
    for BBS2, a component of the BBSome complex involved in ciliogenesis, that is ubiquinated and degraded by the
    proteasome (PubMed:22500027)

  • Selected diseases for TRIM32 (see all 24):    
    About MalaCards
    trim32-related bardet-biedl syndrome    bardet-biedl syndrome 11    limb-girdle muscular dystrophy type 2h    limb-girdle muscular dystrophy type 2i
    bardet-biedl syndrome, modifier of    pigmentary retinopathy    lafora disease    limb-girdle muscular dystrophy
    retinal disease    bardet-biedl syndrome    muscular dystrophy    hiv-1
    polydactyly    myopathy    retinitis    mental retardation
    diabetes mellitus    obesity    hypertension    ataxia

    2 diseases from the University of Copenhagen DISEASES database for TRIM32:
    Bardet-Biedl syndrome     Muscular dystrophy

    TRIM32 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for TRIM32 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lgmd2h 99.3 15 16816390 (4), 11822024 (2), 14959561 (1), 11665864 (1) (see all 7)
    lgmd2g 97.3 4 14959561 (1), 15316618 (1), 11665864 (1)
    lgmd2f 93.5 3 14959561 (1), 15316618 (1)
    lgmd2i 93.4 3 14959561 (1), 15316618 (1)
    lgmd2e 93.1 3 14959561 (1), 15316618 (1)
    lgmd1a 92 1 15316618 (1)
    lgmd2b 91 4 14959561 (1), 15316618 (1), 11665864 (1)
    muscular dystrophy limb-girdle 89.1 2 17994549 (1), 16243356 (1)
    lgmd2a 88 4 14959561 (1), 15316618 (1), 11665864 (1)
    muscular dystrophies 74.8 1 17994549 (1)

    GeneTests: TRIM32
    GeneReviews: TRIM32
    Genetic Association Database (GAD): TRIM32
    Human Genome Epidemiology (HuGE) Navigator: TRIM32 (4 documents)

    Export disorders for TRIM32 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)
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    PubMed articles for TRIM32 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with TRIM32)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human zinc finger protein that specifically interacts with the activation domain of lentiviral Tat proteins. (PubMed id 7778269)1, 2, 3, 9 Fridell R.A.... Cullen B.R. (Virology 1995)
    2. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). (PubMed id 16606853)1, 2, 3 Chiang A.P....Sheffield V.C. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    3. Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. (PubMed id 17994549)1, 2, 9 Saccone V.... Nigro V. (Hum. Mutat. 2008)
    4. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. (PubMed id 11822024)1, 2, 9 Frosk P.... Wrogemann K. (Am. J. Hum. Genet. 2002)
    5. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. TRIM32 is an E3 ubiquitin ligase for dysbindin. (PubMed id 19349376)1, 2 Locke M.... Blake D.J. (Hum. Mol. Genet. 2009)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    9. 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. (Genome Res. 2004)
    10. The tripartite motif family identifies cell compartments. (PubMed id 11331580)1, 3 Reymond A.... Ballabio A. (EMBO J. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 22954 HGNC: 16380 AceView: TRIM32 Ensembl:ENSG00000119401 euGenes: HUgn22954
    ECgene: TRIM32 Kegg: 22954 H-InvDB: TRIM32

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TRIM32 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TRIM32 Genetics and Cytogenetics in Oncology and Haematology
    LEIDEN Muscular Dystrophy page for TRIM32 Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TRIM32[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TRIM32 gene:
    Search GeneIP for patents involving TRIM32

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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