MYBPC2

Summary

MYBPC2 (myosin binding protein C2, HGNC:7550) is a protein-coding gene on chromosome 19q13.33, encoding Myosin-binding protein C, fast-type (Q14324). Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands.

This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively.

Source: NCBI Gene 4606 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 257 total
• GTEx eGene: eQTL in 14 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.11 (unconstrained)
• MANE Select transcript: NM_004533
• Notable: 257 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7550
Approved symbol	MYBPC2
Name	myosin binding protein C2
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	MYBPCF, MGC163408, fsMyBP-C
Ensembl gene	ENSG00000086967
Ensembl biotype	protein_coding
OMIM	160793
Entrez	4606

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 14 protein_coding, 5 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000357701

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1

ENST00000357701, ENST00000597498, ENST00000966351, ENST00000966352, ENST00000966353, ENST00000966354, ENST00000966355, ENST00000966356, ENST00000966357, ENST00000966358, ENST00000966359, ENST00000966360, ENST00000966361, ENST00001019092, ENST00001019093, ENST00001019099, ENST00001019100, ENST00001019102, ENST00001127590, ENST00001137197

RefSeq mRNA: 1 — MANE Select: NM_004533 NM_004533

CCDS: CCDS46152

Canonical transcript exons

ENST00000357701 — 28 exons

Exon	Start	End
ENSE00000721593	50451280	50451309
ENSE00000721600	50450829	50450935
ENSE00000869259	50459111	50459306
ENSE00000869262	50458587	50458754
ENSE00000954625	50435776	50435862
ENSE00000954626	50436012	50436160
ENSE00000954627	50436617	50436734
ENSE00000954628	50437473	50437521
ENSE00000954629	50437659	50437718
ENSE00000954630	50440880	50441076
ENSE00000954631	50442181	50442313
ENSE00000954632	50443494	50443618
ENSE00000954633	50443711	50443816
ENSE00000954634	50445880	50446052
ENSE00000954635	50448225	50448390
ENSE00000954636	50451864	50452003
ENSE00000954637	50454020	50454179
ENSE00000954638	50454265	50454369
ENSE00000954639	50455108	50455296
ENSE00000954640	50455510	50455644
ENSE00000954641	50458918	50459006
ENSE00000954642	50460040	50460179
ENSE00000954643	50461542	50461701
ENSE00000954644	50461900	50462036
ENSE00001297081	50464346	50464532
ENSE00001301795	50435161	50435250
ENSE00001354328	50432892	50432972
ENSE00003146286	50466195	50466321

Expression profiles

Bgee: expression breadth ubiquitous, 175 present calls, max score 99.69.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.8296 / max 1801.6215, expressed in 115 samples.

Highest expression (Bgee): vastus lateralis, hindlimb stylopod muscle, skeletal muscle tissue of rectus abdominis, quadriceps femoris, triceps brachii.

Genetic regulation across tissues (GTEx eQTL / sQTL)

MYBPC2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 14 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

14 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	eqtl	1.1e-12	+0.18	19:50454856:C:A
Brain Anterior cingulate cortex BA24	eqtl	6.1e-10	-0.74	19:50438550:A:G
Brain Frontal Cortex BA9	eqtl	1.7e-09	-0.67	19:50451493:T:C
Skin Sun Exposed Lower leg	eqtl	7.1e-06	+0.43	19:50431721:G:T
Brain Cortex	eqtl	1.8e-05	-0.47	19:50433542:C:A
Cells EBV-transformed lymphocytes	eqtl	3.9e-05	+0.44	19:50433121:C:T
Brain Hypothalamus	eqtl	9.6e-05	-0.46	19:50438550:A:G
Brain Substantia nigra	eqtl	1.5e-03	+2.73	19:50919706:C:A
Esophagus Mucosa	eqtl	2.5e-03	+0.26	19:50437058:A:G
Artery Tibial	eqtl	1.5e-02	-1.13	19:49746456:T:G
Thyroid	eqtl	3.5e-02	-0.22	19:50753769:C:T
Skin Not Sun Exposed Suprapubic	eqtl	4.3e-02	+0.22	19:50433478:C:A
Adrenal Gland	eqtl	4.4e-02	+1.34	19:50981717:C:T
Adipose Subcutaneous	eqtl	4.5e-02	-0.72	19:50073263:T:C

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
177150	3.7967	109
177149	0.0328	13

Top tissues by expression

showing 100 of 290 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
vastus lateralis	UBERON:0001379	99.69	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.63	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.60	gold quality
quadriceps femoris	UBERON:0001377	99.59	gold quality
triceps brachii	UBERON:0001509	99.47	gold quality
biceps brachii	UBERON:0001507	99.43	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.35	gold quality
gastrocnemius	UBERON:0001388	99.22	gold quality
diaphragm	UBERON:0001103	99.18	gold quality
gluteal muscle	UBERON:0002000	99.09	gold quality
skeletal muscle tissue	UBERON:0001134	99.06	gold quality
muscle organ	UBERON:0001630	97.60	gold quality
body of tongue	UBERON:0011876	97.54	gold quality
muscle of leg	UBERON:0001383	96.89	gold quality
deltoid	UBERON:0001476	96.45	gold quality
muscle tissue	UBERON:0002385	90.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.37	gold quality
tongue	UBERON:0001723	86.58	gold quality
tibialis anterior	UBERON:0001385	85.63	silver quality
pharyngeal mucosa	UBERON:0000355	79.28	gold quality
superior surface of tongue	UBERON:0007371	74.11	gold quality
trabecular bone tissue	UBERON:0002483	69.81	gold quality
minor salivary gland	UBERON:0001830	63.68	gold quality
cingulate cortex	UBERON:0003027	62.73	gold quality
anterior cingulate cortex	UBERON:0009835	62.43	gold quality
mouth mucosa	UBERON:0003729	61.73	gold quality
apex of heart	UBERON:0002098	61.37	gold quality
right frontal lobe	UBERON:0002810	61.37	gold quality
synovial joint	UBERON:0002217	59.59	gold quality
pituitary gland	UBERON:0000007	59.26	gold quality
prefrontal cortex	UBERON:0000451	59.01	gold quality
saliva-secreting gland	UBERON:0001044	58.74	gold quality
lymph node	UBERON:0000029	58.20	gold quality
hypothalamus	UBERON:0001898	58.17	gold quality
vermiform appendix	UBERON:0001154	58.09	gold quality
jejunum	UBERON:0002115	57.60	gold quality
neocortex	UBERON:0001950	57.34	gold quality
frontal cortex	UBERON:0001870	57.26	gold quality
adenohypophysis	UBERON:0002196	57.04	gold quality
secondary oocyte	CL:0000655	56.88	silver quality
buccal mucosa cell	CL:0002336	56.87	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	56.64	gold quality
mucosa of transverse colon	UBERON:0004991	56.61	gold quality
oral cavity	UBERON:0000167	56.49	gold quality
Brodmann (1909) area 9	UBERON:0013540	55.80	gold quality
amygdala	UBERON:0001876	55.58	gold quality
caecum	UBERON:0001153	55.47	gold quality
putamen	UBERON:0001874	55.35	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	54.89	gold quality
caudate nucleus	UBERON:0001873	54.83	gold quality
bone marrow cell	CL:0002092	54.77	gold quality
tibia	UBERON:0000979	54.58	silver quality
cerebral cortex	UBERON:0000956	54.54	gold quality
cerebellar hemisphere	UBERON:0002245	54.49	gold quality
forebrain	UBERON:0001890	54.39	gold quality
colonic epithelium	UBERON:0000397	54.25	gold quality
heart left ventricle	UBERON:0002084	54.25	gold quality
right lobe of thyroid gland	UBERON:0001119	54.22	gold quality
nucleus accumbens	UBERON:0001882	54.11	gold quality
cerebellar cortex	UBERON:0002129	54.04	gold quality
substantia nigra	UBERON:0002038	53.85	gold quality
brain	UBERON:0000955	53.84	gold quality
central nervous system	UBERON:0001017	53.84	gold quality
cardiac ventricle	UBERON:0002082	53.83	gold quality
telencephalon	UBERON:0001893	53.81	gold quality
spinal cord	UBERON:0002240	53.64	gold quality
right lobe of liver	UBERON:0001114	53.30	gold quality
cerebellum	UBERON:0002037	53.27	gold quality
right hemisphere of cerebellum	UBERON:0014890	53.27	gold quality
metanephros cortex	UBERON:0010533	53.07	gold quality
popliteal artery	UBERON:0002250	52.65	gold quality
tibial artery	UBERON:0007610	52.57	gold quality
midbrain	UBERON:0001891	52.39	gold quality
right lung	UBERON:0002167	52.18	gold quality
visceral pleura	UBERON:0002401	52.12	gold quality
layer of synovial tissue	UBERON:0007616	52.09	silver quality
adult mammalian kidney	UBERON:0000082	51.98	gold quality
thymus	UBERON:0002370	51.50	gold quality
anatomical system	UBERON:0000467	51.44	gold quality
metanephros	UBERON:0000081	51.43	gold quality
multicellular organism	UBERON:0000468	51.32	gold quality
left lobe of thyroid gland	UBERON:0001120	51.32	gold quality
material anatomical entity	UBERON:0000465	51.31	gold quality
thyroid gland	UBERON:0002046	51.30	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	51.16	gold quality
blood	UBERON:0000178	50.48	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
small intestine Peyer’s patch	UBERON:0003454	50.31	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
tonsil	UBERON:0002372	50.04	gold quality
skin of leg	UBERON:0001511	50.00	gold quality
aorta	UBERON:0000947	49.77	gold quality
Ammon’s horn	UBERON:0001954	49.76	gold quality
cortex of kidney	UBERON:0001225	49.69	gold quality
heart	UBERON:0000948	49.51	gold quality
small intestine	UBERON:0002108	49.45	gold quality
body of pancreas	UBERON:0001150	49.40	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Group enriched

58 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Skeletal muscle	tissue	4065.8	high
Tongue	tissue	1120.1
Parathyroid gland	tissue	200.1	not detected
Prostate	tissue	6.2	not detected
Esophagus	tissue	3.9	not detected
Olfactory bulb	tissue	3.5
Cerebral cortex	tissue	2.9	not detected
Somatosensory cortex	tissue	2.9
Occipital cortex	tissue	2.7
Retrosplenial cortex	tissue	2.6
Insular cortex	tissue	2.6
Midbrain	tissue	2.4
Superior colliculi	tissue	2.4
Temporal cortex	tissue	2.4
Prefrontal cortex	tissue	2.2
Motor cortex	tissue	2.2
Amygdala	tissue	2.1
Medulla oblongata	tissue	2.1
Hippocampal formation	tissue	2.1
Entorhinal cortex	tissue	2.1
Retrosplenial and cingulate cortex	tissue	2.1
Pons	tissue	2.0
Thalamus	tissue	1.8
Ventral forebrain	tissue	1.8
Hypothalamus	tissue	1.7
Septum	tissue	1.7
Substantia nigra	tissue	1.6
Putamen	tissue	1.4
Periaqueductal gray	tissue	1.4
Thymus	tissue	1.3
Lymph node	tissue	1.0	not detected
Basal ganglia	tissue	1.0	not detected
Spinal cord	tissue	1.0
Tonsil	tissue	1.0	not detected
Appendix	tissue	1.0	not detected
Cerebellum	tissue	0.9	not detected
Corpus callosum	tissue	0.7
Locus coeruleus	tissue	0.6
Colon	tissue	0.4	not detected
Bone marrow	tissue	0.3	not detected
Pituitary gland	tissue	0.2
Stomach 1	tissue	0.2	not detected
Spleen	tissue	0.2	not detected
Hippocampus	tissue	0.2	not detected
Postcentral gyrus	tissue	0.2
Caudate putamen	tissue	0.2
Testis	tissue	0.1	high
Ovary	tissue	0.1	not detected
Vagina	tissue	0.1	not detected
Adipose tissue	tissue	0.1	not detected
Salivary gland	tissue	0.1	not detected
Rectum	tissue	0.1	not detected
Nucleus accumbens	tissue	0.1
Choroid plexus	tissue	0.1
Thyroid gland	tissue	0.1	not detected
Small intestine	tissue	0.1	not detected
Kidney	tissue	0.1	not detected
Skin 1	tissue	0.0	low

Brain sub-regions (HPA Brain Atlas): detected in 187; highest nTPM — Subiculum (2.1), Ventral hippocampus (1.4), Dorsal spinal cord (1.0), Piriform cortex (1.0), Ventral spinal cord (1.0).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting MYBPC2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

9 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-4450	98.26	68.35	725
HSA-MIR-4736	97.96	65.89	1287

Functional genomics

gnomAD constraint: pLI 5.09e-39, LOEUF 1.11, missense Z 0.25 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000357701 — one region, missense o/e 0.98.

Literature-anchored findings (GeneRIF, showing 7)

• Identification of interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations. (PMID:12386147)
• the CD-loop is a natively unfolded sequence with a likely coupling between folding and ligand binding. (PMID:17876814)
• Role and quaternary structure of MyBPC in skeletal muscle. (PMID:18201573)
• The distribution of MyBP-C in the A-bands of cardiac and skeletal muscles and compare this to the A-band structure in cardiac muscle of MyBP-C-deficient mice, was investigated. (PMID:18817784)
• The patients with a frameshift deletion mutation of MyBPC may develop LV systolic dysfunction and suffer from cardiovascular events through mid-life and beyond. (PMID:20605413)
• the mean methylation level of CpGs was significantly higher in MYBPC3 than MYBPC2. (PMID:20740642)
• MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma. (PMID:33499774)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mybpc2b	ENSDARG00000021265
mus_musculus	Mybpc2	ENSMUSG00000038670
rattus_norvegicus	Mybpc2	ENSRNOG00000019627
drosophila_melanogaster	mtgo	FBGN0259735
caenorhabditis_elegans		WBGENE00007944

Paralogs (11): MYOM2 (ENSG00000036448), FNDC3B (ENSG00000075420), MYOM1 (ENSG00000101605), FNDC3A (ENSG00000102531), OBSL1 (ENSG00000124006), MYBPH (ENSG00000133055), MYBPC3 (ENSG00000134571), MYOM3 (ENSG00000142661), IGSF22 (ENSG00000179057), MYBPC1 (ENSG00000196091), MYBPHL (ENSG00000221986)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1336170) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 11 distinct phenotype terms.

Mouse phenotype (MP)	Records
muscle weakness	1
abnormal muscle physiology	1
impaired skeletal muscle contractility	1
abnormal skeletal muscle fiber morphology	1
impaired muscle relaxation	1
hypotonia	1
abnormal extensor digitorum longus morphology	1
abnormal muscle contractility	1
centrally nucleated skeletal muscle fibers	1
decreased grip strength	1
impaired exercise endurance	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Meleagris gallopavo	P56276	96.4%	Diamond
Gallus gallus	Q7T2H2	77.5%	Diamond
Ambystoma mexicanum	Q90233	70.6%	Diamond
Branchiostoma lanceolatum	P05548	42.7%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
JOSD2	protein-coding	126119
MYREM	ncRNA	128266840
EMC10	protein-coding	284361
SPIB	protein-coding	6689
POLD1	protein-coding	5424
NR1H2	protein-coding	7376
NAPSA	protein-coding	9476
GARIN5A	protein-coding	112703
ASPDH	protein-coding	554235

Protein

Protein identifiers

Myosin-binding protein C, fast-type — Q14324 (reviewed: Q14324)

Alternative names: C-protein, skeletal muscle fast isoform

All UniProt accessions (2): A0A140VJQ0, Q14324

UniProt curated annotations — full annotation on UniProt →

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.

Similarity. Belongs to the immunoglobulin superfamily. MyBP family.

RefSeq proteins (1): NP_004524* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR040849	MyBP-C_THB	Domain
IPR050964	Striated_Muscle_Regulatory	Family

Pfam: PF00041, PF07679, PF18362

UniProt features (56 total): strand 27, domain 10, sequence variant 7, turn 5, sequence conflict 2, helix 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

3 structures by resolution:

PDB	Title	Method	Resolution (Å)
2E7C	Solution structure of the 6th Ig-like domain from human Myosin-binding protein C …	SOLUTION NMR
2EDK	Solution structure of the third ig-like domain from human Myosin-binding protein C …	SOLUTION NMR
2EDN	Solution structure of the first ig-like domain from human Myosin-binding protein C …	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14324-F1	81.61	0.41

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 2; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

2 pathways:

ID	Pathway	Evidence
R-HSA-390522	Striated Muscle Contraction	curated
R-HSA-397014	Muscle contraction	—

MSigDB gene sets: 116 (showing top): GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, TGACCTY_ERR1_Q2, GOBP_SARCOMERE_ORGANIZATION, CHX10_01, GCM_PRKCG, GCM_RING1, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, MODULE_202, AML_Q6, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, MODULE_157, GOMF_ACTIN_BINDING, GCM_ATM

GO Biological Process (2): cell adhesion (GO:0007155), sarcomere organization (GO:0045214)

GO Molecular Function (3): actin binding (GO:0003779), structural constituent of muscle (GO:0008307), protein binding (GO:0005515)

GO Cellular Component (3): cytosol (GO:0005829), M band (GO:0031430), myosin filament (GO:0032982)

Reactome top-level categories

1 top-level categories:

Category	Pathways
Muscle contraction	1

GO top-level categories

11 GO namespaces:

Category	Terms
cellular anatomical structure	2
cellular process	1
myofibril assembly	1
actomyosin structure organization	1
cytoskeletal protein binding	1
structural molecule activity	1
binding	1
cytoplasm	1
A band	1
myosin complex	1
supramolecular fiber	1

Protein interactions and networks

STRING

showing 15 of 910 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYBPC2	MYH14	Q7Z406	849
MYBPC2	MYL2	P10916	606
MYBPC2	TNNC2	P02585	593
MYBPC2	NEB	P20929	570
MYBPC2	MYH7	P12883	569
MYBPC2	TNNT3	P45378	567
MYBPC2	TNNI2	P48788	550
MYBPC2	MYH6	P13533	539
MYBPC2	MYL11	Q96A32	532
MYBPC2	ACTN3	Q08043	529
MYBPC2	MYL1	P05976	514
MYBPC2	TNNI3	P19429	500
MYBPC2	MYL3	P08590	497
MYBPC2	MYH1	P12882	492
MYBPC2	MYH2	Q9UKX2	477

IntAct

Human interaction partners of MYBPC2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 33 partners by confidence:

Partner	Interaction type	MIscore	Records
SH3GL3	physical association	0.560	3
PA2G4	physical association	0.400	1
PCNA	physical association	0.370	1
TTN	physical association	0.000	14
MYBPC1	physical association	0.000	3
COL12A1	physical association	0.000	2
FLNC	physical association	0.000	2
MYOM2	physical association	0.000	2
SGCG	physical association	0.000	2
ACTN2	physical association	0.000	1
AMOT	physical association	0.000	1
AOC3	physical association	0.000	1
CCT6A	physical association	0.000	1
CMYA5	physical association	0.000	1
DST	physical association	0.000	1
DYSF	physical association	0.000	1
FLNB	physical association	0.000	1
FSD2	physical association	0.000	1
GABARAP	physical association	0.000	1
GAS7	physical association	0.000	1
HSPA1A	physical association	0.000	1
ITGB5	physical association	0.000	1
MAD2L2	physical association	0.000	1
MSN	physical association	0.000	1
MYH8	physical association	0.000	1
NF2	physical association	0.000	1
PCDH12	physical association	0.000	1
PDE4DIP	physical association	0.000	1
RANBP2	physical association	0.000	1
SDCBP	physical association	0.000	1

BioGRID (44 interactions; top human partners by supporting records): HNRNPA0 (Cross-Linking-MS (XL-MS); 2 records), ACTN2 (Two-hybrid), AGO2 (Affinity Capture-RNA), ALK (Affinity Capture-MS), AMOT (Two-hybrid), AOC3 (Two-hybrid), CCT6A (Two-hybrid), CMYA5 (Two-hybrid), COL12A1 (Two-hybrid), DST (Two-hybrid), DYSF (Two-hybrid), FLNB (Two-hybrid), FLNC (Two-hybrid), FSD2 (Two-hybrid), GABARAP (Two-hybrid)

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 33 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
sarcomere organization	5	61.8×	5e-06
actin cytoskeleton organization	5	12.8×	3e-03

Disease & clinical

Genetic variants

Variant evidence for MYBPC2: 257 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

257 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	221
Likely benign	23
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 18 predictions of 2,206):

Position(s)	Effect	Δscore	Sites
19:50435159–50435160	acceptor_loss	1.0000	4
19:50435769	acceptor_gain	1.0000
19:50435774–50435775	acceptor_loss	1.0000	2
19:50436007	acceptor_gain	1.0000
19:50436195	donor_gain	1.0000
19:50437462	acceptor_gain	1.0000
19:50440872–50440874	acceptor_gain	1.0000	2
19:50440878–50440879	acceptor_loss	1.0000	4
19:50440879	acceptor_gain	1.0000
19:50441050	donor_gain	1.0000

AlphaMissense

2,715 missense substitutions predicted likely pathogenic (of 7,511 scored), across 783 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
N717	8	0.989	1.000
D504	8	0.985	0.997
D906	8	0.980	0.995
D415	8	0.979	0.994
D612	8	0.979	0.996
D322	8	0.977	0.994
D130	8	0.974	0.995
N1010	8	0.967	0.998
D1114	8	0.962	0.988
N622	8	0.957	0.999
F1004	8	0.956	0.999
F458	8	0.947	0.999
F809	8	0.937	0.997
F258	8	0.923	0.993
F603	8	0.904	0.998
D637	8	0.903	0.986
F149	8	0.892	0.988
F731	8	0.890	0.988
F897	8	0.803	0.992
W659	7	0.996	0.999

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Head and Neck Squamous Cell Carcinoma)

Disease associations

OMIM: gene MIM:160793 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST003129_10	Primary biliary cholangitis	1e-20

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
entinostat	increases expression, affects cotreatment	2
aristolochic acid I	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Air Pollutants	increases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	decreases expression	1
Doxorubicin	affects expression	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	increases abundance, increases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.