MYOM2

myomesin 2, the group of I-set domain containing|Myosin binding proteins|MicroRNA protein coding host genes

Basic information

Region (hg38): 8:2045045-2165552

Links

ENSG00000036448 ∙ NCBI:9172 ∙ OMIM:603509 ∙ HGNC:7614 ∙ Uniprot:P54296 ∙ 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 MYOM2 gene.

• Inborn genetic diseases (108 variants)
• not provided (13 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYOM2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				6		6
missense			109	3	2	114
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	110	9	3

Variants in MYOM2

This is a list of pathogenic ClinVar variants found in the MYOM2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-2050761-G-A		MYOM2-related disorder	Likely benign (Oct 28, 2019)
8-2050801-G-A		not specified	Uncertain significance (Dec 20, 2022)
8-2050823-C-T		MYOM2-related disorder	Likely benign (Jul 12, 2019)
8-2050827-C-T		not specified	Uncertain significance (Dec 21, 2022)
8-2050842-C-T		not specified	Uncertain significance (Jan 03, 2024)
8-2050864-C-A		MYOM2-related disorder	Benign (May 30, 2019)
8-2052202-G-A		not specified	Uncertain significance (Dec 21, 2023)
8-2052262-G-T		not specified	Uncertain significance (Jan 23, 2024)
8-2052283-AG-A			Uncertain significance (Jul 08, 2022)
8-2052291-G-A		MYOM2-related disorder	Benign (Mar 07, 2019)
8-2052310-G-T		MYOM2-related disorder	Benign (Sep 23, 2019)
8-2052319-C-T		MYOM2-related disorder	Likely benign (Feb 22, 2019)
8-2057403-G-A		not specified	Uncertain significance (May 05, 2023)
8-2057451-C-T		MYOM2-related disorder	Benign (Mar 22, 2019)
8-2057452-G-A		not specified	Uncertain significance (Jul 21, 2021)
8-2057454-G-A		MYOM2-related disorder	Likely benign (Mar 09, 2022)
8-2057473-C-G		MYOM2-related disorder	Likely benign (Sep 01, 2023)
8-2057506-G-A			Benign (Oct 01, 2019)
8-2057628-G-A		MYOM2-related disorder	Likely benign (Jul 13, 2019)
8-2057645-A-G		not specified	Uncertain significance (Mar 28, 2023)
8-2057662-G-A		not specified	Uncertain significance (Sep 06, 2022)
8-2057695-C-T		MYOM2-related disorder	Benign (Apr 01, 2019)
8-2057749-G-A		not specified	Uncertain significance (May 17, 2023)
8-2057761-C-G		not specified	Uncertain significance (Aug 23, 2021)
8-2057765-C-T		MYOM2-related disorder	Benign (Mar 07, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYOM2	protein_coding	protein_coding	ENST00000262113	36	120321

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.01e-85	1.46e-17	124812	3	933	125748	0.00373

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-5.30	1356	907	1.50	0.0000578	9579
Missense in Polyphen		495	342.24	1.4463		3407
Synonymous	-6.40	540	381	1.42	0.0000289	2756
Loss of Function	-2.37	114	89.8	1.27	0.00000510	972

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00702	0.00700
Ashkenazi Jewish	0.00734	0.00737
East Asian	0.0114	0.0113
Finnish	0.000556	0.000554
European (Non-Finnish)	0.00293	0.00291
Middle Eastern	0.0114	0.0113
South Asian	0.00284	0.00281
Other	0.00457	0.00457

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.981
• rvis_EVS: -0.5
• rvis_percentile_EVS: 21.84

Haploinsufficiency Scores

• pHI: 0.224
• hipred: N
• hipred_score: 0.251
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.802

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myom2

Gene ontology

• Biological process: extraocular skeletal muscle development;muscle contraction;skeletal muscle thin filament assembly;skeletal muscle myosin thick filament assembly;sarcomere organization;cardiac muscle fiber development;cardiac myofibril assembly;cardiac muscle tissue morphogenesis;striated muscle myosin thick filament assembly
• Cellular component: mitochondrion;striated muscle thin filament;sarcomere;Z disc;M band;myosin filament
• Molecular function: protein binding;structural constituent of muscle;kinase binding;actin filament binding;muscle alpha-actinin binding