TRIM72

protein-coding

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

Gene summary

Enables identical protein binding activity. Predicted to be involved in several processes, including plasma membrane repair; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein homooligomerization. Predicted to act upstream of or within negative regulation of insulin receptor signaling pathway; negative regulation of insulin-like growth factor receptor signaling pathway; and negative regulation of myotube differentiation. Predicted to be located in cytoplasmic vesicle membrane. Predicted to be active in cytoplasm and sarcolemma. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001008274.4

Inheritance

—

ClinVar variants

U:93B:7

Top phenotype

Small for gestational age

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr16:31,214,119-31,231,537

External References & Databases

Ensembl (ENSG00000177238)

Transcript & Mutation Effects

hg38 • Region Span ~17.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TRIM72 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 106

not providedTotal: 5

Small for gestational ageTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001008274.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			89 clinvar	4 clinvar	1 clinvar	94
nonsense			1 clinvar			1
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	93	5	2	100

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001008274.4	RefSeq	NP_001008275.2	6	MANE Select
ENST00000322122.8	Ensembl	ENSP00000312675.3	6	MANE Select
ENST00001122803.1	Ensembl	ENSP00000792608.1	6	Standard
ENST00001140322.1	Ensembl	ENSP00000806295.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Smooth Muscle Contraction
Muscle contraction

Biological Process

plasma membrane repair
muscle system process
exocytosis
muscle contraction
muscle organ development

Molecular Function

phosphatidylserine binding
protein binding
zinc ion binding
ubiquitin conjugating enzyme binding
ubiquitin protein ligase activity

Cellular Component

cytoplasmic vesicle membrane
sarcolemma

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000322122
Coding exons: 6
Length: 11169
Individuals with no LoFs: 125697
Homozygous LoFs: 0
Heterozygous LoFs: 51
Defined: 125748
p: 0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.45	198	264	0.749	0.0000178	2952
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00038	0.00037	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.00013	0.00012	rare
South Asian	0.00037	0.00036	rare
Other	0.00073	0.00065	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.116

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.801

Gene Damage Prediction

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