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TRIM32 (tripartite motif containing 32)

Identity

Alias_namesLGMD2H
limb girdle muscular dystrophy 2H (autosomal recessive)
tripartite motif-containing 32
Alias_symbol (synonym)HT2A
TATIP
BBS11
Other alias
HGNC (Hugo) TRIM32
LocusID (NCBI) 22954
Atlas_Id 42702
Location 9q33.1  [Link to chromosome band 9q33]
Location_base_pair Starts at 116687302 and ends at 116701300 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TRIM32 (9q33.1) / MELK (9p13.2)TRIM32 9q33.1 / MELK 9p13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TRIM32   16380
LRG (Locus Reference Genomic)LRG_211
Cards
Entrez_Gene (NCBI)TRIM32  22954  tripartite motif containing 32
AliasesBBS11; HT2A; LGMD2H; TATIP
GeneCards (Weizmann)TRIM32
Ensembl hg19 (Hinxton)ENSG00000119401 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119401 [Gene_View]  chr9:116687302-116701300 [Contig_View]  TRIM32 [Vega]
ICGC DataPortalENSG00000119401
TCGA cBioPortalTRIM32
AceView (NCBI)TRIM32
Genatlas (Paris)TRIM32
WikiGenes22954
SOURCE (Princeton)TRIM32
Genetics Home Reference (NIH)TRIM32
Genomic and cartography
GoldenPath hg38 (UCSC)TRIM32  -     chr9:116687302-116701300 +  9q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TRIM32  -     9q33.1   [Description]    (hg19-Feb_2009)
EnsemblTRIM32 - 9q33.1 [CytoView hg19]  TRIM32 - 9q33.1 [CytoView hg38]
Mapping of homologs : NCBITRIM32 [Mapview hg19]  TRIM32 [Mapview hg38]
OMIM254110   602290   615988   
Gene and transcription
Genbank (Entrez)AK314264 AX775779 BC003154 BI544919 BX091494
RefSeq transcript (Entrez)NM_001099679 NM_012210
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TRIM32
Cluster EST : UnigeneHs.591910 [ NCBI ]
CGAP (NCI)Hs.591910
Alternative Splicing GalleryENSG00000119401
Gene ExpressionTRIM32 [ NCBI-GEO ]   TRIM32 [ EBI - ARRAY_EXPRESS ]   TRIM32 [ SEEK ]   TRIM32 [ MEM ]
Gene Expression Viewer (FireBrowse)TRIM32 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22954
GTEX Portal (Tissue expression)TRIM32
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13049   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13049  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13049
Splice isoforms : SwissVarQ13049
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   
PhosPhoSitePlusQ13049
Domaine pattern : Prosite (Expaxy)NHL (PS51125)    ZF_BBOX (PS50119)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)6-blade_b-propeller_TolB-like    NHL_repeat    NHL_repeat_subgr    TRIM32    Znf-RING_LisH    Znf_B-box    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)NHL (PF01436)    zf-RING_UBOX (PF13445)   
Domain families : Pfam (NCBI)pfam01436    pfam13445   
Domain families : Smart (EMBL)BBOX (SM00336)  RING (SM00184)  
Conserved Domain (NCBI)TRIM32
DMDM Disease mutations22954
Blocks (Seattle)TRIM32
PDB (SRS)2CT2    5FEY   
PDB (PDBSum)2CT2    5FEY   
PDB (IMB)2CT2    5FEY   
PDB (RSDB)2CT2    5FEY   
Structural Biology KnowledgeBase2CT2    5FEY   
SCOP (Structural Classification of Proteins)2CT2    5FEY   
CATH (Classification of proteins structures)2CT2    5FEY   
SuperfamilyQ13049
Human Protein AtlasENSG00000119401
Peptide AtlasQ13049
HPRD03797
IPIIPI00297113   IPI00645015   
Protein Interaction databases
DIP (DOE-UCLA)Q13049
IntAct (EBI)Q13049
FunCoupENSG00000119401
BioGRIDTRIM32
STRING (EMBL)TRIM32
ZODIACTRIM32
Ontologies - Pathways
QuickGOQ13049
Ontology : AmiGOprotein polyubiquitination  tissue homeostasis  transcription coactivator activity  RNA binding  ubiquitin-protein transferase activity  protein binding  nucleus  cytoplasm  cytosol  striated muscle myosin thick filament  actin ubiquitination  zinc ion binding  response to UV  protein ubiquitination  myosin binding  positive regulation of cell growth  positive regulation of cell migration  Tat protein binding  translation initiation factor binding  regulation of type I interferon production  negative regulation of viral transcription  response to tumor necrosis factor  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  identical protein binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  protein self-association  innate immune response  innate immune response  fat cell differentiation  positive regulation of neuron differentiation  positive regulation of protein catabolic process  positive regulation of cell cycle  positive regulation of proteolysis  muscle cell cellular homeostasis  negative regulation of fibroblast proliferation  positive regulation of neurogenesis  positive regulation of sequence-specific DNA binding transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of striated muscle cell differentiation  axon development  ubiquitin protein ligase activity  negative regulation of viral release from host cell  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  positive regulation of tumor necrosis factor-mediated signaling pathway  positive regulation of interleukin-17-mediated signaling pathway  positive regulation of chemokine (C-C motif) ligand 20 production  positive regulation of cell motility  
Ontology : EGO-EBIprotein polyubiquitination  tissue homeostasis  transcription coactivator activity  RNA binding  ubiquitin-protein transferase activity  protein binding  nucleus  cytoplasm  cytosol  striated muscle myosin thick filament  actin ubiquitination  zinc ion binding  response to UV  protein ubiquitination  myosin binding  positive regulation of cell growth  positive regulation of cell migration  Tat protein binding  translation initiation factor binding  regulation of type I interferon production  negative regulation of viral transcription  response to tumor necrosis factor  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  identical protein binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  protein self-association  innate immune response  innate immune response  fat cell differentiation  positive regulation of neuron differentiation  positive regulation of protein catabolic process  positive regulation of cell cycle  positive regulation of proteolysis  muscle cell cellular homeostasis  negative regulation of fibroblast proliferation  positive regulation of neurogenesis  positive regulation of sequence-specific DNA binding transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of striated muscle cell differentiation  axon development  ubiquitin protein ligase activity  negative regulation of viral release from host cell  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  positive regulation of tumor necrosis factor-mediated signaling pathway  positive regulation of interleukin-17-mediated signaling pathway  positive regulation of chemokine (C-C motif) ligand 20 production  positive regulation of cell motility  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkTRIM32
Atlas of Cancer Signalling NetworkTRIM32
Wikipedia pathwaysTRIM32
Orthology - Evolution
OrthoDB22954
GeneTree (enSembl)ENSG00000119401
Phylogenetic Trees/Animal Genes : TreeFamTRIM32
HOVERGENQ13049
HOGENOMQ13049
Homologs : HomoloGeneTRIM32
Homology/Alignments : Family Browser (UCSC)TRIM32
Gene fusions - Rearrangements
Fusion : MitelmanTRIM32/MELK [9q33.1/9p13.2]  
Fusion: TCGATRIM32 9q33.1 MELK 9p13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTRIM32 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRIM32
dbVarTRIM32
ClinVarTRIM32
1000_GenomesTRIM32 
Exome Variant ServerTRIM32
ExAC (Exome Aggregation Consortium)TRIM32 (select the gene name)
Genetic variants : HAPMAP22954
Genomic Variants (DGV)TRIM32 [DGVbeta]
DECIPHERTRIM32 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTRIM32 
Mutations
ICGC Data PortalTRIM32 
TCGA Data PortalTRIM32 
Broad Tumor PortalTRIM32
OASIS PortalTRIM32 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTRIM32  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTRIM32
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)EURO-WABB PROJECT OPEN VARIATION DATABASE
BioMutasearch TRIM32
DgiDB (Drug Gene Interaction Database)TRIM32
DoCM (Curated mutations)TRIM32 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TRIM32 (select a term)
intoGenTRIM32
Cancer3DTRIM32(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM254110    602290    615988   
Orphanet1195    3244   
MedgenTRIM32
Genetic Testing Registry TRIM32
NextProtQ13049 [Medical]
TSGene22954
GENETestsTRIM32
Target ValidationTRIM32
Huge Navigator TRIM32 [HugePedia]
snp3D : Map Gene to Disease22954
BioCentury BCIQTRIM32
ClinGenTRIM32
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22954
Chemical/Pharm GKB GenePA38130
Clinical trialTRIM32
Miscellaneous
canSAR (ICR)TRIM32 (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTRIM32
EVEXTRIM32
GoPubMedTRIM32
iHOPTRIM32
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 13:00:51 CEST 2017

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