Aliases for TRIM37 Gene
Aliases for TRIM37 Gene
External Ids for TRIM37 Gene
- HGNC: 7523
- Entrez Gene: 4591
- Ensembl: ENSG00000108395
- OMIM: 605073
- UniProtKB: O94972
Previous HGNC Symbols for TRIM37 Gene
- MUL
Previous GeneCards Identifiers for TRIM37 Gene
- GC17M056903
- GC17M059637
- GC17M057401
- GC17M057549
- GC17M054430
- GC17M054414
- GC17M057059
- GC17M052420
Summaries for TRIM37 Gene
-
This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. The gene mutations are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. [provided by RefSeq, Mar 2016]
GeneCards Summary for TRIM37 Gene
TRIM37 (Tripartite Motif Containing 37) is a Protein Coding gene. Diseases associated with TRIM37 include Mulibrey Nanism and Acid-Labile Subunit, Deficiency Of. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include protein homodimerization activity and ligase activity.
UniProtKB/Swiss-Prot for TRIM37 Gene
-
E3 ubiquitin-protein ligase required to prevent centriole reduplication (PubMed:15885686, PubMed:23769972). Probably acts by ubiquitinating positive regulators of centriole reduplication (PubMed:23769972). Mediates monoubiquitination of Lys-119 of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression: associates with some Polycomb group (PcG) multiprotein PRC2-like complex and mediates repression of target genes (PubMed:25470042). Has anti-HIV activity (PubMed:24317724).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRIM37 Gene
Genomics for TRIM37 Gene
Regulatory Elements for TRIM37 Gene
Enhancers for TRIM37 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around TRIM37 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for TRIM37 Gene
- Chromosome:
- 17
- Start:
- 58,982,638 bp from pter
- End:
- 59,106,921 bp from pter
- Size:
- 124,284 bases
- Orientation:
- Minus strand
Genomic View for TRIM37 Gene
Genes around TRIM37 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q22 by Ensembl
- 17q22 by Entrez Gene
- 17q22 by HGNC
TRIM37 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TRIM37 Gene
Proteins for TRIM37 Gene
-
Protein details for TRIM37 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O94972-TRI37_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase TRIM37
- Protein Accession:
- O94972
- A8K0V9
- A8K8U4
- A8MZ79
- B4DGZ3
- F8WEE6
- Q7Z3E6
- Q8IYF7
- Q8WYF7
Protein attributes for TRIM37 Gene
- Size:
- 964 amino acids
- Molecular mass:
- 107906 Da
- Quaternary structure:
-
- Associates with the PRC2/EED-EZH2 complex.
- Miscellaneous:
-
- Acts as a proto-oncogene via its ability to monoubiquinate Lys-119 of histone H2A (H2AK119Ub): overexpressed in a number of breast cancers and promotes transformation of cells by mediating silencing of tumor suppressor genes (PubMed:25470042).
- SequenceCaution:
-
- Sequence=BAA74921.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for TRIM37 Gene
Post-translational modifications for TRIM37 Gene
- Auto-ubiquitinated.
- Ubiquitination at Lys742
- Modification sites at PhosphoSitePlus
Other Protein References for TRIM37 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001005207.1
- NP_001307916.1
- NP_001307917.1
- NP_001307918.1
- NP_001307919.1
- NP_056109.1
- XP_005257442.1
- XP_011523133.1
- XP_011523134.1
- XP_011523135.1
- XP_011523136.1
- XP_011523138.1
- XP_016880151.1
- XP_016880152.1
- XP_016880153.1
- XP_016880154.1
- XP_016880155.1
- XP_016880156.1
- XP_016880157.1
- XP_016880158.1
- XP_016880159.1
- XP_016880160.1
- XP_016880161.1
- XP_016880162.1
- XP_016880163.1
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TRIM37
- Novus Biologicals Antibodies for TRIM37
-
Abcam antibodies for TRIM37
- Invitrogen Antibodies for TRIM37
- antibodies-online Antibodies for TRIM37: See all 56
- GeneTex TRIM37 antibody for TRIM37
-
Santa Cruz Biotechnology (SCBT) Antibodies for TRIM37
Protein Products
-
OriGene Purified Proteins for TRIM37
- Search Origene for MassSpec and Protein Over-expression Lysates for TRIM37
- Origene Custom Protein Services for TRIM37
- Search GeneTex for Proteins for TRIM37
-
Abcam proteins for TRIM37
Assay Products
No data available for DME Specific Peptides for TRIM37 Gene
Domains & Families for TRIM37 Gene
Gene Families for TRIM37 Gene
Protein Domains for TRIM37 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TRIM37 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O94972- Family:
-
- Belongs to the TRIM/RBCC family.
Function for TRIM37 Gene
Molecular function for TRIM37 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
- UniProtKB/Swiss-Prot Function:
- E3 ubiquitin-protein ligase required to prevent centriole reduplication (PubMed:15885686, PubMed:23769972). Probably acts by ubiquitinating positive regulators of centriole reduplication (PubMed:23769972). Mediates monoubiquitination of Lys-119 of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression: associates with some Polycomb group (PcG) multiprotein PRC2-like complex and mediates repression of target genes (PubMed:25470042). Has anti-HIV activity (PubMed:24317724).
- UniProtKB/Swiss-Prot Induction:
- Overexpressed in a number of breast cancer cell lines.
Enzyme Numbers (IUBMB) for TRIM37 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0004842 | ubiquitin-protein transferase activity | IDA | 15885686 |
| GO:0005164 | tumor necrosis factor receptor binding | IPI | 11279055 |
| GO:0005515 | protein binding | IPI | 11279055 |
| GO:0008270 | zinc ion binding | IEA | -- |
Phenotypes for TRIM37 Gene
- MGI mutant phenotypes for TRIM37:
-
inferred from 1 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- skeleton phenotype
- hematopoietic system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for TRIM37:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for TRIM37 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TRIM37 gene
- Search ViGene Biosciences for TRIM37
CRISPR Products
-
OriGene CRISPR knockouts for TRIM37
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRIM37
- GenScript: Design CRISPR guide RNA sequences for TRIM37
miRNA for TRIM37 Gene
- miRTarBase miRNAs that target TRIM37
-
- hsa-mir-124-3p (MIRT022999)
- hsa-mir-769-3p (MIRT039127)
- hsa-mir-30e-3p (MIRT044117)
- hsa-mir-183-5p (MIRT047093)
- hsa-mir-937-5p (MIRT500674)
- hsa-mir-4291 (MIRT500675)
- hsa-mir-19b-3p (MIRT500676)
- hsa-mir-19a-3p (MIRT500677)
- hsa-mir-4696 (MIRT500678)
- hsa-mir-5702 (MIRT500679)
- hsa-mir-7157-5p (MIRT500680)
- hsa-mir-4310 (MIRT500681)
- hsa-mir-545-3p (MIRT500682)
- hsa-mir-1179 (MIRT500683)
- hsa-mir-451b (MIRT500684)
- hsa-mir-519c-3p (MIRT500685)
- hsa-mir-519b-3p (MIRT500686)
- hsa-mir-519a-3p (MIRT500687)
- hsa-mir-7-2-3p (MIRT500688)
- hsa-mir-5688 (MIRT500689)
- hsa-mir-7-1-3p (MIRT500690)
- hsa-mir-495-3p (MIRT500691)
- hsa-mir-559 (MIRT500692)
- hsa-mir-548y (MIRT500693)
- hsa-mir-548w (MIRT500694)
- hsa-mir-548o-5p (MIRT500695)
- hsa-mir-548j-5p (MIRT500696)
- hsa-mir-548i (MIRT500697)
- hsa-mir-548h-5p (MIRT500698)
- hsa-mir-548d-5p (MIRT500699)
- hsa-mir-548c-5p (MIRT500700)
- hsa-mir-548bb-5p (MIRT500701)
- hsa-mir-548b-5p (MIRT500702)
- hsa-mir-548ay-5p (MIRT500703)
- hsa-mir-548au-5p (MIRT500704)
- hsa-mir-548as-5p (MIRT500705)
- hsa-mir-548ar-5p (MIRT500706)
- hsa-mir-548aq-5p (MIRT500707)
- hsa-mir-548ap-5p (MIRT500708)
- hsa-mir-548am-5p (MIRT500709)
- hsa-mir-548ak (MIRT500710)
- hsa-mir-548ae-5p (MIRT500711)
- hsa-mir-548ad-5p (MIRT500712)
- hsa-mir-548ab (MIRT500713)
- hsa-mir-548a-5p (MIRT500714)
- hsa-mir-7844-5p (MIRT500715)
- hsa-mir-548t-5p (MIRT500716)
- hsa-mir-548az-5p (MIRT500717)
- hsa-mir-548n (MIRT500718)
- hsa-mir-106b-5p (MIRT500719)
- hsa-mir-93-5p (MIRT500720)
- hsa-mir-526b-3p (MIRT500721)
- hsa-mir-519d-3p (MIRT500722)
- hsa-mir-20b-5p (MIRT500723)
- hsa-mir-20a-5p (MIRT500724)
- hsa-mir-17-5p (MIRT500725)
- hsa-mir-106a-5p (MIRT500726)
- hsa-mir-130a-3p (MIRT500727)
- hsa-mir-130b-3p (MIRT500728)
- hsa-mir-301b-3p (MIRT500729)
- hsa-mir-3666 (MIRT500730)
- hsa-mir-4295 (MIRT500731)
- hsa-mir-454-3p (MIRT500732)
- hsa-mir-301a-3p (MIRT500733)
- hsa-mir-142-3p (MIRT545473)
- hsa-mir-519d-5p (MIRT545474)
- hsa-mir-6080 (MIRT545475)
- hsa-mir-622 (MIRT545476)
- hsa-mir-4255 (MIRT545477)
- hsa-mir-6888-5p (MIRT545478)
- hsa-mir-4428 (MIRT545479)
miRNA Products
- Search ViGene Biosciences for TRIM37
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for TRIM37
- Browse OriGene Inhibitory RNA Products For TRIM37
-
ViGene Biosciences ready-to-package AAV shRNAs for TRIM37 gene
Cell Line Products
-
Horizon Cell Lines for TRIM37
-
ViGene Biosciences adenoviral particle packaged cDNA for TRIM37 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TRIM37 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TRIM37 gene
Flow Cytometry Products
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TRIM37 Gene
Localization for TRIM37 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TRIM37 Gene
- Cytoplasm, perinuclear region. Peroxisome. Note=Found in vesicles of the peroxisome. Aggregates as aggresomes, a perinuclear region where certain misfolded or aggregated proteins are sequestered for proteasomal degradation. {ECO:0000269 PubMed:15885686}.
| Compartment | Confidence |
|---|---|
| peroxisome | 5 |
| cytosol | 5 |
| nucleus | 4 |
| extracellular | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005737 | cytoplasm | IDA,IEA | 23769972 |
| GO:0005777 | peroxisome | IEA,IDA | 11938494 |
| GO:0005829 | cytosol | IDA | 11279055 |
| GO:0016235 | aggresome | IDA | 15885686 |
Pathways & Interactions for TRIM37 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Ubiquitin mediated proteolysis | ||
| 3 | Innate Immune System |
.61
|
|
Pathways by source for TRIM37 Gene
4 Reactome pathways for TRIM37 Gene
1 KEGG pathway for TRIM37 Gene
UniProtKB/Swiss-Prot O94972-TRI37_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for TRIM37 Gene
Selected Interacting proteins:
ENSP00000262294
O94972-TRI37_HUMAN
for TRIM37 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | IDA | 25470042 |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0032088 | negative regulation of NF-kappaB transcription factor activity | IDA | 11279055 |
| GO:0035518 | histone H2A monoubiquitination | IDA | 25470042 |
No data available for SIGNOR curated interactions for TRIM37 Gene
Transcripts for TRIM37 Gene
mRNA/cDNA for TRIM37 Gene
- (25) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (145) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TRIM37 Gene
CRISPR Products
-
OriGene CRISPR knockouts for TRIM37
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRIM37
- GenScript: Design CRISPR guide RNA sequences for TRIM37
miRNA Products
- Search ViGene Biosciences for TRIM37
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for TRIM37
- Browse OriGene Inhibitory RNA Products For TRIM37
-
ViGene Biosciences ready-to-package AAV shRNAs for TRIM37 gene
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||
| SP2: | - | - | |||||||||||||||||
| SP3: | |||||||||||||||||||
| SP4: | |||||||||||||||||||
| SP5: | |||||||||||||||||||
| SP6: | |||||||||||||||||||
| SP7: | |||||||||||||||||||
| SP8: | |||||||||||||||||||
| SP9: | - |
Expression for TRIM37 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
-
Gonad
- XY Germ Cells Testis Cord
mRNA differential expression in normal tissues according to GTEx for TRIM37 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.6).
This gene is overexpressed in Adipocyte (38.6) and Testis (16.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRIM37 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TRIM37 Gene:
TRIM37SOURCE GeneReport for Unigene cluster for TRIM37 Gene:
Hs.579079mRNA Expression by UniProt/SwissProt for TRIM37 Gene:
O94972-TRI37_HUMAN
Tissue specificity:
Ubiquitous (PubMed:10888877). Highly expressed in testis, while it is weakly expressed in other tissues (PubMed:16310976).
Evidence on tissue expression from TISSUES for TRIM37 Gene
- Nervous system(5)
- Blood(3.3)
- Kidney(2.6)
- Skin(2.2)
- Lung(2.1)
- Eye(2)
- Heart(2)
- Intestine(2)
- Liver(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIM37 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- sinus
- skull
- tongue
- tooth
- vocal cord
Thorax:
- heart
- heart valve
- lung
Abdomen:
- kidney
- liver
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for TRIM37
-
OriGene qPCR primer pairs and template standards for TRIM37
Orthologs for TRIM37 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TRIM37 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | TRIM37 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | TRIM37 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Trim37 16 35 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Trim37 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TRIM37 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TRIM37 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TRIM37 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | trim37 34 |
|
||
| Str.3537 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | trim37 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7142 35 |
|
OneToOne |
- Species where no ortholog for TRIM37 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)
- 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 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)
Paralogs for TRIM37 Gene
(1) SIMAP similar genes for TRIM37 Gene using alignment to 10 proteins:
No data available for Paralogs for TRIM37 Gene
Variants for TRIM37 Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121908391 | Pathogenic, Mulibrey nanism (MUL) [MIM:253250] | 59,084,045(-) | GACTT(C/G)TAAGA | intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime | |
| rs386834004 | Likely pathogenic, Mulibrey nanism (MUL) [MIM:253250] | 59,088,345(-) | ACAGC(C/T)TGATA | nc-transcript-variant, reference, missense, utr-variant-5-prime | |
| rs386834009 | Likely pathogenic, Mulibrey nanism (MUL) [MIM:253250] | 59,061,086(-) | GCGAG(G/T)TTACT | nc-transcript-variant, reference, missense | |
| rs386833416 | Pathogenic | 59,028,460(-) | GAATG(-/G)AACTC | nc-transcript-variant, reference, frameshift-variant | |
| rs386833999 | Likely pathogenic | 59,057,033(-) | GAGAT(-/AGAT)GGTTC | nc-transcript-variant, reference, frameshift-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3270n100 | CNV | gain | 25217958 |
| esv2421884 | CNV | deletion | 20811451 |
| esv2675820 | CNV | deletion | 23128226 |
| esv2758699 | CNV | gain | 17122850 |
| esv3554606 | CNV | deletion | 23714750 |
| esv3640900 | CNV | loss | 21293372 |
| esv3640901 | CNV | loss | 21293372 |
| nsv1065063 | CNV | gain | 25217958 |
| nsv1127585 | CNV | deletion | 24896259 |
| nsv1134660 | CNV | deletion | 24896259 |
| nsv507849 | OTHER | sequence alteration | 20534489 |
| nsv510719 | CNV | deletion | 20534489 |
| nsv514855 | CNV | loss | 21397061 |
| nsv828068 | CNV | loss | 20364138 |
| nsv828069 | CNV | loss | 20364138 |
| nsv833499 | CNV | loss | 17160897 |
| nsv9574 | CNV | loss | 18304495 |
| nsv962452 | CNV | deletion | 23825009 |
Residual Variation Intolerance Score:
6.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.77;
47.17% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for TRIM37 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRIM37 Gene
Disorders for TRIM37 Gene
(13) MalaCards diseases for TRIM37 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mulibrey nanism |
|
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| acid-labile subunit, deficiency of |
|
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| emphysematous cholecystitis |
|
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| pontiac fever |
|
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| purulent labyrinthitis |
|
|
Search TRIM37 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TRI37_HUMAN- Mulibrey nanism (MUL) [MIM:253250]: An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor. {ECO:0000269 PubMed:10888877, ECO:0000269 PubMed:12754710, ECO:0000269 PubMed:15108285, ECO:0000269 PubMed:15885686, ECO:0000269 PubMed:17100991, ECO:0000269 PubMed:17551331, ECO:0000269 PubMed:21865362, ECO:0000269 PubMed:23385855}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for TRIM37
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- TRIM37
No data available for Genatlas for TRIM37 Gene
Publications for TRIM37 Gene
- A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy. (PMID: 17551331) DoA9anc T. … Tekin M. (Clin. Dysmorphol. 2007) 3 4 22 64
- Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing. (PMID: 16310976) HAomAolAoinen R.H. … Lehesjoki A.E. (Gene 2006) 3 4 22 64
- Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. (PMID: 17100991) Haemaelaeinen R.H. … Lehesjoki A.-E. (Clin. Genet. 2006) 3 4 22 64
- Novel mutations in the TRIM37 gene in Mulibrey Nanism. (PMID: 15108285) Haemaelaeinen R.H. … Lehesjoki A.E. (Hum. Mutat. 2004) 3 4 22 64
- A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. (PMID: 12754710) Jagiello P. … Gencik M. (Hum. Mutat. 2003) 3 4 22 64
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Sources for TRIM37 Gene
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