TRIM72

tripartite motif containing 72, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 16:31214119-31231537

Links

ENSG00000177238 ∙ NCBI:493829 ∙ OMIM:613288 ∙ HGNC:32671 ∙ Uniprot:Q6ZMU5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIM72 gene.

• not_specified (94 variants)
• not_provided (4 variants)
• Small_for_gestational_age (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM72 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001008274.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			77	4	1	82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	77	5	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM72	protein_coding	protein_coding	ENST00000322122	6	11169

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000463	0.871	125697	0	51	125748	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.45	198	264	0.749	0.0000178	2952
Missense in Polyphen		37	66.788	0.55399		843
Synonymous	1.88	96	123	0.783	0.00000863	1010
Loss of Function	1.42	9	14.9	0.603	6.39e-7	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000559	0.000545
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.00	0.00
Finnish	0.000420	0.000416
European (Non-Finnish)	0.000132	0.000123
Middle Eastern	0.00	0.00
South Asian	0.000365	0.000359
Other	0.000730	0.000652

dbNSFP

Source: dbNSFP

• Function: 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). {ECO:0000250}.
• Pathway: Smooth Muscle Contraction;Muscle contraction (Consensus)

Recessive Scores

• pRec: 0.116

Haploinsufficiency Scores

• pHI: 0.275
• hipred: N
• hipred_score: 0.482
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Trim72
• Phenotype: muscle phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: plasma membrane repair;muscle system process;exocytosis;muscle contraction;muscle organ development;negative regulation of myotube differentiation;protein ubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process;negative regulation of insulin-like growth factor receptor signaling pathway;negative regulation of insulin receptor signaling pathway;protein homooligomerization
• Cellular component: cytoplasmic vesicle membrane;sarcolemma
• Molecular function: phosphatidylserine binding;protein binding;zinc ion binding;ubiquitin conjugating enzyme binding;ubiquitin protein ligase activity