Aliases for TRIM72 Gene

Aliases for TRIM72 Gene

  • Tripartite Motif Containing 72 2 3 5
  • Tripartite Motif Containing 72, E3 Ubiquitin Protein Ligase 2 3
  • Tripartite Motif-Containing Protein 72 3 4
  • Mitsugumin-53 3 4
  • MG53 3 4
  • Tripartite Motif-Containing 72 2
  • Mitsugumin 53 2
  • Mg53 4

External Ids for TRIM72 Gene

Previous GeneCards Identifiers for TRIM72 Gene

  • GC16P031119
  • GC16P031025
  • GC16P031084
  • GC16P031220
  • GC16P028786
  • GC16P031304
  • GC16P031318
  • GC16P031334
  • GC16P031222
  • GC16P031247
  • GC16P031269
  • GC16P031288

Summaries for TRIM72 Gene

GeneCards Summary for TRIM72 Gene

TRIM72 (Tripartite Motif Containing 72) is a Protein Coding gene. Diseases associated with TRIM72 include Miyoshi Muscular Dystrophy and Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B. Among its related pathways are Cardiac conduction and Smooth Muscle Contraction. Gene Ontology (GO) annotations related to this gene include phosphatidylserine binding. An important paralog of this gene is TRIM39.

UniProtKB/Swiss-Prot Summary for TRIM72 Gene

  • Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)-dependent membrane resealing process. Required for transport of DYSF to sites of cell injury during repair patch formation. Regulates membrane budding and exocytosis. May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (By similarity).

Additional gene information for TRIM72 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRIM72 Gene

Genomics for TRIM72 Gene

GeneHancer (GH) Regulatory Elements for TRIM72 Gene

Promoters and enhancers for TRIM72 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J031213 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 500.7 +0.9 850 3.5 NRF1 USF1 TEAD4 ZNF639 ZNF10 ZNF423 ZBTB26 REST KLF4 KLF7 TRIM72 lnc-PYDC1-1 PYCARD PYDC1 ZNF764
GH16J031212 Enhancer 0.4 FANTOM5 500.7 -1.8 -1828 0.1 ZBTB17 PBX2 MEIS2 PKNOX1 TRIM72 ZNF629 RF00017-2053
GH16J031178 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11 -32.9 -32917 5.2 FOXK2 HNRNPK ZNF217 EP300 SIN3A NRF1 TCF12 MYC POLR2G SP1 FUS NONHSAG019141.2 SETD1A SRCAP ZNF764 C16orf58 SMG1P5 ENSG00000260267 BCL7C ZNF646
GH16J031252 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 11.9 +39.6 39628 1.3 NRF1 USF1 PHB2 AFF1 DNMT1 HES1 TOE1 MYC CTBP1 JUN HSALNG0110841 piR-30188-072 piR-60246-066 PYDC1 PYCARD TRIM72 PRSS36 ITGAM ITGAX ZNF646
GH16J031333 Enhancer 1 Ensembl ENCODE dbSUPER 11.8 +119.9 119880 1 ZNF217 CTCF CLOCK REST TGIF2 RAD21 CTBP1 TRIM22 SMC3 SIN3A lnc-COX6A2-4 PYDC1 ITGAX TRIM72 PYCARD PRSS36 PRSS8 SETD1A HSD3B7 piR-59769-230
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRIM72 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRIM72

Top Transcription factor binding sites by QIAGEN in the TRIM72 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • MIF-1
  • p53

Genomic Locations for TRIM72 Gene

Genomic Locations for TRIM72 Gene
chr16:31,214,021-31,231,537
(GRCh38/hg38)
Size:
17,517 bases
Orientation:
Plus strand
chr16:31,225,342-31,236,510
(GRCh37/hg19)
Size:
11,169 bases
Orientation:
Plus strand

Genomic View for TRIM72 Gene

Genes around TRIM72 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRIM72 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRIM72 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRIM72 Gene

Proteins for TRIM72 Gene

  • Protein details for TRIM72 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMU5-TRI72_HUMAN
    Recommended name:
    Tripartite motif-containing protein 72
    Protein Accession:
    Q6ZMU5
    Secondary Accessions:
    • Q8N4X6
    • Q8NBD9

    Protein attributes for TRIM72 Gene

    Size:
    477 amino acids
    Molecular mass:
    52731 Da
    Quaternary structure:
    • Homooligomer; disulfide-linked. Interacts with DYSF and CAV3 (By similarity).
    SequenceCaution:
    • Sequence=BAC03506.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TRIM72 Gene

    Alternative splice isoforms for TRIM72 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRIM72 Gene

Post-translational modifications for TRIM72 Gene

  • Disulfide bond formation at Cys-242 occurs in case of membrane damage that cause the entry of the oxidized milieu of the extracellular space, resulting in homooligomerization.
  • S-nitrosylation at Cys-144 stabilizes TRIM72 and protects against oxidation-induced protein degradation and cell death.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRIM72 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for TRIM72
  • Santa Cruz Biotechnology (SCBT) Antibodies for TRIM72

No data available for DME Specific Peptides for TRIM72 Gene

Domains & Families for TRIM72 Gene

Gene Families for TRIM72 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for TRIM72 Gene

Blocks:
  • Zn-finger, RING
  • B-box zinc finger signature
  • Butyrophylin C-terminal DUF signature
  • SPRY-associated domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TRIM72 Gene

GenScript: Design optimal peptide antigens:
  • Mitsugumin-53 (TRI72_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZMU5

UniProtKB/Swiss-Prot:

TRI72_HUMAN :
  • Belongs to the TRIM/RBCC family.
Family:
  • Belongs to the TRIM/RBCC family.
genes like me logo Genes that share domains with TRIM72: view

Function for TRIM72 Gene

Molecular function for TRIM72 Gene

UniProtKB/Swiss-Prot Function:
Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)-dependent membrane resealing process. Required for transport of DYSF to sites of cell injury during repair patch formation. Regulates membrane budding and exocytosis. May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (By similarity).

Phenotypes From GWAS Catalog for TRIM72 Gene

Gene Ontology (GO) - Molecular Function for TRIM72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding ISS --
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0031624 ubiquitin conjugating enzyme binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TRIM72: view
genes like me logo Genes that share phenotypes with TRIM72: view

Animal Models for TRIM72 Gene

MGI Knock Outs for TRIM72:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRIM72

CRISPR Products

miRNA for TRIM72 Gene

miRTarBase miRNAs that target TRIM72

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRIM72

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TRIM72 Gene

Localization for TRIM72 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRIM72 Gene

Cell membrane, sarcolemma. Cytoplasmic vesicle membrane. Note=Tethered to plasma membrane and cytoplasmic vesicles via its interaction with phosphatidylserine. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRIM72 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRIM72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030659 cytoplasmic vesicle membrane TAS --
GO:0031410 cytoplasmic vesicle IEA --
GO:0042383 sarcolemma ISS --
genes like me logo Genes that share ontologies with TRIM72: view

Pathways & Interactions for TRIM72 Gene

PathCards logo

SuperPathways for TRIM72 Gene

genes like me logo Genes that share pathways with TRIM72: view

Pathways by source for TRIM72 Gene

2 Reactome pathways for TRIM72 Gene

Gene Ontology (GO) - Biological Process for TRIM72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 plasma membrane repair ISS --
GO:0003012 muscle system process ISS --
GO:0006887 exocytosis IEA --
GO:0006936 muscle contraction TAS --
GO:0007517 muscle organ development ISS --
genes like me logo Genes that share ontologies with TRIM72: view

No data available for SIGNOR curated interactions for TRIM72 Gene

Drugs & Compounds for TRIM72 Gene

No Compound Related Data Available

Transcripts for TRIM72 Gene

mRNA/cDNA for TRIM72 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRIM72

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRIM72 Gene

No ASD Table

Relevant External Links for TRIM72 Gene

GeneLoc Exon Structure for
TRIM72

Expression for TRIM72 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRIM72 Gene

mRNA differential expression in normal tissues according to GTEx for TRIM72 Gene

This gene is overexpressed in Muscle - Skeletal (x44.9).

Protein differential expression in normal tissues from HIPED for TRIM72 Gene

This gene is overexpressed in Tonsil (50.3) and Esophagus (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRIM72 Gene



Protein tissue co-expression partners for TRIM72 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRIM72

SOURCE GeneReport for Unigene cluster for TRIM72 Gene:

Hs.661859

Evidence on tissue expression from TISSUES for TRIM72 Gene

  • Muscle(2.8)
genes like me logo Genes that share expression patterns with TRIM72: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIM72 Gene

Orthologs for TRIM72 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TRIM72 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRIM72 31 30
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TRIM72 31 30
  • 91.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TRIM72 31 30
  • 90.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Trim72 17 31 30
  • 85.81 (n)
rat
(Rattus norvegicus)
Mammalia Trim72 30
  • 84.77 (n)
oppossum
(Monodelphis domestica)
Mammalia TRIM72 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRIM72 31
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRIM72 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trim72 30
  • 63.35 (n)
Species where no ortholog for TRIM72 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TRIM72 Gene

ENSEMBL:
Gene Tree for TRIM72 (if available)
TreeFam:
Gene Tree for TRIM72 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRIM72: view image

Paralogs for TRIM72 Gene

(4) SIMAP similar genes for TRIM72 Gene using alignment to 1 proteins:

  • TRI72_HUMAN
genes like me logo Genes that share paralogs with TRIM72: view

Variants for TRIM72 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRIM72 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
727981 Likely Benign: not provided 31,222,893(+) A/C SYNONYMOUS_VARIANT
768774 Benign: not provided 31,219,420(+) C/T SYNONYMOUS_VARIANT
775373 Benign: not provided 31,219,376(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TRIM72 Gene

Structural Variations from Database of Genomic Variants (DGV) for TRIM72 Gene

Variant ID Type Subtype PubMed ID
dgv4990n54 CNV gain 21841781
nsv571824 CNV gain 21841781

Variation tolerance for TRIM72 Gene

Gene Damage Index Score: 2.11; 38.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRIM72 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRIM72

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRIM72 Gene

Disorders for TRIM72 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TRIM72 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
miyoshi muscular dystrophy
  • miyoshi myopathy
autosomal recessive limb-girdle muscular dystrophy type 2b
  • muscular dystrophy, limb-girdle, type 2b
glycogen storage disease vii
  • gsd7
retinitis pigmentosa, y-linked
  • rpy
muscular dystrophy
  • muscular dystrophies
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TRIM72

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRIM72: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRIM72 Gene

Publications for TRIM72 Gene

  1. Central role of E3 ubiquitin ligase MG53 in insulin resistance and metabolic disorders. (PMID: 23354051) Song R … Xiao RP (Nature 2013) 2 3 54
  2. TRIM72, a novel negative feedback regulator of myogenesis, is transcriptionally activated by the synergism of MyoD (or myogenin) and MEF2. (PMID: 20399744) Jung SY … Ko YG (Biochemical and biophysical research communications 2010) 2 3 54
  3. Crystal structure of PRY-SPRY domain of human TRIM72. (PMID: 19967786) Park EY … Song HK (Proteins 2010) 3 4 54
  4. Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). (PMID: 19129174) Han S … Nath SK (Human molecular genetics 2009) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for TRIM72 Gene

  • Signalway ELISA kits for TRIM72
  • Signalway Proteins for TRIM72

Sources for TRIM72 Gene