MYBPC2

myosin binding protein C2, the group of I-set domain containing|Myosin binding proteins

Basic information

Region (hg38): 19:50432892-50466321

Links

ENSG00000086967 ∙ NCBI:4606 ∙ OMIM:160793 ∙ HGNC:7550 ∙ Uniprot:Q14324 ∙ 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 MYBPC2 gene.

• not_specified (197 variants)
• not_provided (8 variants)
• MYBPC2-related_disorder (8 variants)
• Flexion_contracture (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYBPC2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004533.4. 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			2	8		10
missense			193	10		203
nonsense			1			1
start loss						0
frameshift			2	2		4
splice donor/acceptor (+/-2bp)			3	1		4
Total	0	0	201	21	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYBPC2	protein_coding	protein_coding	ENST00000357701	28	33419

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.83e-23	0.196	124030	2	636	124668	0.00256

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.674	672	723	0.929	0.0000472	7376
Missense in Polyphen		253	274.15	0.92285		2781
Synonymous	-0.913	323	303	1.07	0.0000221	2183
Loss of Function	1.77	43	57.5	0.748	0.00000281	693

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0246	0.0240
Ashkenazi Jewish	0.00212	0.00209
East Asian	0.00114	0.00111
Finnish	0.000280	0.000278
European (Non-Finnish)	0.000803	0.000788
Middle Eastern	0.00114	0.00111
South Asian	0.00302	0.00288
Other	0.00253	0.00248

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
• Pathway: Striated Muscle Contraction;Striated Muscle Contraction;Muscle contraction (Consensus)

Intolerance Scores

• loftool: 0.970
• rvis_EVS: 2.37
• rvis_percentile_EVS: 98.45

Haploinsufficiency Scores

• pHI: 0.186
• hipred: N
• hipred_score: 0.208
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.211

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mybpc2

Zebrafish Information Network

• Gene name: mybpc2b
• Affected structure: skeletal muscle cell
• Phenotype tag: abnormal
• Phenotype quality: decondensed

Gene ontology

• Biological process: muscle contraction;cell adhesion;muscle filament sliding;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: cytosol;striated muscle thin filament;sarcomere;Z disc;M band;myosin filament
• Molecular function: protein binding;structural constituent of muscle;actin filament binding;muscle alpha-actinin binding