TRIM55

protein-coding

tripartite motif containing 55, the group of Tripartite motif family|Ring finger proteins

Gene summary

The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Previous symbols:

RNF29

MANE transcript

NM_184085.2

Inheritance

—

ClinVar variants

U:75B:18

Top phenotype

TRIM55-related disorder

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr8:66,126,896-66,175,485

External References & Databases

Ensembl (ENSG00000147573)

Transcript & Mutation Effects

hg38 • Region Span ~48.6 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 TRIM55 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 72

TRIM55-related disorderTotal: 16

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_184085.2. 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	10 clinvar	4 clinvar	15
missense			71 clinvar	4 clinvar		75
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	75	14	4	93

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 44 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_184085.2	RefSeq	NP_908973.1	10	MANE Select
ENST00000315962.9	Ensembl	ENSP00000323913.4	10	MANE Select
NM_033058.3	RefSeq	NP_149047.2	11	Standard
NM_184086.2	RefSeq	NP_908974.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

signal transduction

Molecular Function

protein binding
zinc ion binding
identical protein binding

Cellular Component

nucleus
cytoplasm
microtubule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000315962
Coding exons: 10
Length: 48590
Individuals with no LoFs: 125525
Homozygous LoFs: 1
Heterozygous LoFs: 222
Defined: 125748
p: 0.000887

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0699	308	305	1.01	0.0000157	3589
Missense (PolyPhen)		90	97.342	0.92458		1183
Synonymous	0.156	111	113	0.981	0.00000625	1052
Loss of Function	0.824	23	27.7	0.831	0.00000141	332

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00090	0.00090	rare
Ashkenazi Jewish	0.013	0.013	notable
East Asian	0.00060	0.00060	rare
Finnish	0.00018	0.00018	rare
European (Non-Finnish)	0.00020	0.00020	rare
South Asian	0.00049	0.00049	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May regulate gene expression and protein turnover in muscle cells. {ECO:0000250}.;

Recessive Scores

pRec: 0.0880

Intolerance Scores

LoFtool: 0.968
RVIS EVS: -0.18
RVIS percentile EVS: 40.56

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.891

Gene Damage Prediction

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