CMYA5

protein-coding

cardiomyopathy associated 5, the group of Tripartite motif family|A-kinase anchoring proteins|Fibronectin type III domain containing

Gene summary

Predicted to enable identical protein binding activity and protein phosphatase inhibitor activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade and regulation of skeletal muscle adaptation. Predicted to be located in several cellular components, including costamere; perinuclear region of cytoplasm; and sarcoplasmic reticulum. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C5orf10

MANE transcript

NM_153610.5

Inheritance

—

ClinVar variants

U:584B:124

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr5:79,689,836-79,800,240

External References & Databases

Ensembl (ENSG00000164309)

Transcript & Mutation Effects

hg38 • Region Span ~110.4 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 CMYA5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 601

not providedTotal: 86

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153610.5. 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			6 clinvar	23 clinvar	13 clinvar	42
missense			565 clinvar	74 clinvar	14 clinvar	653
nonsense			3 clinvar			3
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	0	0	584	97	27	708

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153610.5	RefSeq	NP_705838.3	13	MANE Select
ENST00000446378.3	Ensembl	ENSP00000394770.2	13	MANE Select
ENST00000856934.1	Ensembl	ENSP00000526993.1	13	Standard
ENST00000856934.2	Ensembl	ENSP00000526993.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

nucleus
sarcoplasmic reticulum
M band
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000446378
Coding exons: 13
Length: 110364
Individuals with no LoFs: 124392
Homozygous LoFs: 0
Heterozygous LoFs: 265
Defined: 124657
p: 0.00106

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0573	1985	1.98e+3	1.00	0.0000969	26301
Missense (PolyPhen)		371	404.46	0.91727		5652
Synonymous	0.323	753	764	0.985	0.0000408	7998
Loss of Function	2.48	101	132	0.766	0.00000636	2094

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00026	0.00026	rare
Latino/Admixed American	0.00063	0.00058	rare
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0.0011	0.0011	notable
Finnish	0.00047	0.00046	rare
European (Non-Finnish)	0.0016	0.0015	notable
South Asian	0.00076	0.00075	rare
Other	0.0021	0.0017	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q70KF4}.;

Intolerance Scores

LoFtool: 0.999
RVIS EVS: 10.43
RVIS percentile EVS: 99.97

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.538

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High