MYBPH

Summary

MYBPH (myosin binding protein H, HGNC:7552) is a protein-coding gene on chromosome 1q32.1, encoding Myosin-binding protein H (Q13203). Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.

Predicted to be a structural constituent of muscle. Predicted to be involved in sarcomere organization. Predicted to be located in myosin filament. Predicted to be active in M band.

Source: NCBI Gene 4608 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 91 total
• MANE Select transcript: NM_004997

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7552
Approved symbol	MYBPH
Name	myosin binding protein H
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000133055
Ensembl biotype	protein_coding
OMIM	160795
Entrez	4608

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000255416, ENST00000966288, ENST00000966289, ENST00000966290, ENST00000966291, ENST00000966292

RefSeq mRNA: 1 — MANE Select: NM_004997 NM_004997

CCDS: CCDS30975

Canonical transcript exons

ENST00000255416 — 11 exons

Exon	Start	End
ENSE00001045142	203169253	203169389
ENSE00001045143	203175327	203175461
ENSE00001045151	203170291	203170450
ENSE00001045154	203171952	203172040
ENSE00001045155	203171383	203171578
ENSE00001045156	203174430	203174597
ENSE00001045157	203171061	203171200
ENSE00001045158	203175551	203175826
ENSE00001131038	203168906	203169092
ENSE00001410275	203168627	203168675
ENSE00001411156	203167811	203168091

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 85.65.

FANTOM5 (CAGE): breadth broad, TPM avg 5.2294 / max 796.5180, expressed in 252 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16768	5.2294	252

Top tissues by expression

274 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	85.65	gold quality
muscle of leg	UBERON:0001383	82.97	gold quality
muscle organ	UBERON:0001630	78.42	gold quality
gluteal muscle	UBERON:0002000	72.99	gold quality
hindlimb stylopod muscle	UBERON:0004252	72.55	gold quality
triceps brachii	UBERON:0001509	70.77	gold quality
tibialis anterior	UBERON:0001385	67.94	silver quality
biceps brachii	UBERON:0001507	66.41	silver quality
vastus lateralis	UBERON:0001379	65.74	silver quality
skeletal muscle tissue	UBERON:0001134	65.04	gold quality
diaphragm	UBERON:0001103	64.24	gold quality
tendon of biceps brachii	UBERON:0008188	62.03	gold quality
muscle tissue	UBERON:0002385	61.90	gold quality
deltoid	UBERON:0001476	61.74	silver quality
Brodmann (1909) area 10	UBERON:0013541	61.42	gold quality
minor salivary gland	UBERON:0001830	60.44	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	60.35	gold quality
mouth mucosa	UBERON:0003729	58.24	gold quality
saliva-secreting gland	UBERON:0001044	57.59	gold quality
blood	UBERON:0000178	57.04	gold quality
inferior olivary complex	UBERON:0002127	56.69	gold quality
adult mammalian kidney	UBERON:0000082	56.37	gold quality
endometrium epithelium	UBERON:0004811	56.12	gold quality
body of tongue	UBERON:0011876	56.07	gold quality
metanephros	UBERON:0000081	55.93	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	55.84	gold quality
parotid gland	UBERON:0001831	55.78	gold quality
buccal mucosa cell	CL:0002336	55.63	gold quality
frontal pole	UBERON:0002795	55.04	gold quality
metanephros cortex	UBERON:0010533	54.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting MYBPH, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-122B-3P	99.21	68.90	1333
HSA-MIR-21-3P	99.21	68.95	1312
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-8089	97.74	66.21	1698
HSA-MIR-4667-5P	97.61	66.67	1683
HSA-MIR-635	96.00	65.54	687
HSA-MIR-6774-5P	95.94	65.18	722

Literature-anchored findings (GeneRIF, showing 4)

• MYBPH inhibited assembly competence-conferring phosphorylation of the myosin regulatory light chain (RLC) as well as activating phosphorylation of LIM domain kinase, unexpectedly through its direct physical interaction with Rho kinase 1 (PMID:22085929)
• These results suggest that MYBPH inhibits RLC and NMHC IIA, independent components of NM IIA, and negatively regulates actomyosin organization at 2 distinct steps, resulting in firm inhibition of NM IIA assembly. (PMID:23068101)
• MyBP-H expression signals the onset of dysregulation in actin-myosin interaction; this in turn might contribute to the pathogenesis of amyotrophic lateral sclerosis. (PMID:24184715)
• variation in MYBPH can modulate the severity of hypertrophy in hypertrophic cardiomyopathy patients. (PMID:26969327)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mybphb	ENSDARG00000003081
danio_rerio	mybpha	ENSDARG00000058799
mus_musculus	Mybph	ENSMUSG00000042451
rattus_norvegicus	Mybph	ENSRNOG00000003336
drosophila_melanogaster	mtgo	FBGN0259735
caenorhabditis_elegans		WBGENE00007944

Paralogs (11): MYOM2 (ENSG00000036448), FNDC3B (ENSG00000075420), MYBPC2 (ENSG00000086967), MYOM1 (ENSG00000101605), FNDC3A (ENSG00000102531), OBSL1 (ENSG00000124006), MYBPC3 (ENSG00000134571), MYOM3 (ENSG00000142661), IGSF22 (ENSG00000179057), MYBPC1 (ENSG00000196091), MYBPHL (ENSG00000221986)

Protein

Protein identifiers

Myosin-binding protein H — Q13203 (reviewed: Q13203)

Alternative names: H-protein

All UniProt accessions (1): Q13203

UniProt curated annotations — full annotation on UniProt →

Function. Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.

Tissue specificity. Mainly expressed in the skeletal muscle. Slightly expressed in the left atrium and arteria mammaria interna.

Similarity. Belongs to the immunoglobulin superfamily. MyBP family.

RefSeq proteins (1): NP_004988* (*=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
IPR050964	Striated_Muscle_Regulatory	Family

Pfam: PF00041, PF07679

UniProt features (14 total): domain 4, sequence variant 3, sequence conflict 3, modified residue 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13203-F1	84.88	0.71

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 6, 26

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): LFA1_Q6, GCANCTGNY_MYOD_Q6, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, AP4_Q6, GOBP_SARCOMERE_ORGANIZATION, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, COUP_01, PUJANA_CHEK2_PCC_NETWORK, GOBP_REGULATION_OF_STRIATED_MUSCLE_CONTRACTION, YGACNNYACAR_UNKNOWN, AP1_Q4_01, GOBP_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS

GO Biological Process (3): regulation of striated muscle contraction (GO:0006942), cell adhesion (GO:0007155), sarcomere organization (GO:0045214)

GO Molecular Function (2): structural constituent of muscle (GO:0008307), protein binding (GO:0005515)

GO Cellular Component (2): M band (GO:0031430), myosin filament (GO:0032982)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of muscle contraction	1
striated muscle contraction	1
cellular process	1
myofibril assembly	1
actomyosin structure organization	1
structural molecule activity	1
binding	1
A band	1
cellular anatomical structure	1
myosin complex	1
supramolecular fiber	1

Protein interactions and networks

STRING

614 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYBPH	OCA2	Q04671	996
MYBPH	GLDC	P23378	994
MYBPH	SLAMF1	Q13291	994
MYBPH	CD46	P15529	993
MYBPH	NECTIN4	Q96NY8	993
MYBPH	AMT	P48728	984
MYBPH	GCSH	P23434	957
MYBPH	C3	P01024	857
MYBPH	TLR2	O60603	833
MYBPH	CFH	P08603	798
MYBPH	CFHR3	Q02985	787
MYBPH	CFHR4	Q92496	785
MYBPH	CFHR5	Q9BXR6	781
MYBPH	CFHR1	Q03591	730
MYBPH	CFHR2	P36980	724

IntAct

14 interactions, top by confidence:

A	B	Type	Score
MYBPH	ROCK1	psi-mi:“MI:0407”(direct interaction)	0.540
MYBPH	ROCK1	psi-mi:“MI:0915”(physical association)	0.540
MYBPH	ROCK1	psi-mi:“MI:0915”(physical association)	0.400
ROCK1	MYBPH	psi-mi:“MI:0915”(physical association)	0.400
TGS1	SEPTIN10	psi-mi:“MI:0914”(association)	0.350
WRAP53	STK24	psi-mi:“MI:0914”(association)	0.350
PPP1R21		psi-mi:“MI:0914”(association)	0.350
MYBPH	CAPN3	psi-mi:“MI:0915”(physical association)	0.000
TTN	MYBPH	psi-mi:“MI:0915”(physical association)	0.000
MYBPH	TTN	psi-mi:“MI:0915”(physical association)	0.000
MYBPH	UBL7	psi-mi:“MI:0915”(physical association)	0.000
MYBPH	ZBTB38	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): MYBPH (Affinity Capture-MS), MYBPH (Affinity Capture-MS), MYBPH (Affinity Capture-MS), MYBPH (Two-hybrid), UBL7 (Two-hybrid), TTN (Two-hybrid), ZBTB38 (Two-hybrid), MYBPH (Affinity Capture-RNA), MYBPH (Affinity Capture-Luminescence)

ESM2 similar proteins: A0A087WV53, A1CS92, A2ABU4, A2Q908, A2RUH7, A4QZL9, D3ZHA0, O01761, O70468, O75369, O88599, P05548, P11275, P11730, P11798, P13466, P21333, P56276, P56741, P70402, P79280, Q05623, Q13177, Q13203, Q13557, Q14315, Q2GM53, Q2HJF7, Q2URB7, Q5FW53, Q5PQM4, Q5RCC4, Q5VTT5, Q5ZJJ9, Q5ZKI0, Q62422, Q63518, Q6C1H8, Q6P686, Q6PHZ2

Diamond homologs: A2AAJ9, A2ABU4, O88599, P12960, P14781, P28685, P52179, P54296, P68500, P70402, P97527, P97528, Q02173, Q07409, Q12860, Q13203, Q14896, Q28106, Q2EY15, Q2VWP7, Q2VWP9, Q589G5, Q5PQM4, Q5VTT5, Q62234, Q62682, Q63198, Q7ZW34, Q86TB3, Q91ZB0, Q924C5, Q96JA1, Q96L96, Q98936, Q9P232, A2ASS6, A2CG49, A4IFM7, A8C984, A8X6H4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2102 predictions. Top by Δscore:

Variant	Effect	Δscore
1:203168901:CTCA:C	donor_loss	1.0000
1:203168902:TCACC:T	donor_loss	1.0000
1:203168904:AC:A	donor_loss	1.0000
1:203168905:CC:C	donor_loss	1.0000
1:203169093:C:CC	acceptor_gain	1.0000
1:203169397:C:CT	acceptor_gain	1.0000
1:203170286:CCCA:C	donor_loss	1.0000
1:203170288:CACCT:C	donor_loss	1.0000
1:203170289:ACCT:A	donor_loss	1.0000
1:203170368:C:T	acceptor_gain	1.0000
1:203171059:ACC:A	donor_gain	1.0000
1:203171060:CCC:C	donor_gain	1.0000
1:203171210:C:CT	acceptor_gain	1.0000
1:203171381:A:AC	donor_gain	1.0000
1:203171381:A:C	donor_loss	1.0000
1:203171382:C:CC	donor_gain	1.0000
1:203171382:CCAAT:C	donor_gain	1.0000
1:203171949:CACC:C	donor_loss	1.0000
1:203171950:A:AG	donor_loss	1.0000
1:203171951:C:CT	donor_loss	1.0000
1:203172036:GGCCT:G	acceptor_gain	1.0000
1:203172037:GCCT:G	acceptor_gain	1.0000
1:203172038:CCTC:C	acceptor_gain	1.0000
1:203172039:CT:C	acceptor_gain	1.0000
1:203172041:C:CC	acceptor_gain	1.0000
1:203174424:CTTTA:C	donor_loss	1.0000
1:203174425:TTTA:T	donor_loss	1.0000
1:203174426:TTAC:T	donor_loss	1.0000
1:203174427:TA:T	donor_loss	1.0000
1:203174495:A:AC	donor_gain	1.0000

AlphaMissense

3084 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:203168949:A:C	N458K	0.999
1:203168949:A:T	N458K	0.999
1:203170371:A:G	F338S	0.999
1:203171133:C:A	W287C	0.999
1:203171133:C:G	W287C	0.999
1:203171135:A:G	W287R	0.999
1:203171135:A:T	W287R	0.999
1:203171439:A:G	L246P	0.999
1:203171446:A:C	Y244D	0.999
1:203171552:C:A	W208C	0.999
1:203171552:C:G	W208C	0.999
1:203171554:A:G	W208R	0.999
1:203171554:A:T	W208R	0.999
1:203174507:C:G	R144P	0.999
1:203175394:C:A	W91C	0.999
1:203175394:C:G	W91C	0.999
1:203168969:A:C	Y452D	0.998
1:203169007:A:G	L439P	0.998
1:203169078:C:A	W415C	0.998
1:203169078:C:G	W415C	0.998
1:203169080:A:G	W415R	0.998
1:203169080:A:T	W415R	0.998
1:203170352:G:C	N344K	0.998
1:203170352:G:T	N344K	0.998
1:203170365:A:T	V340D	0.998
1:203170368:C:G	R339P	0.998
1:203171083:T:G	Q304P	0.998
1:203171134:C:G	W287S	0.998
1:203171140:A:G	L285P	0.998
1:203171484:A:G	L231P	0.998

dbSNP variants (sampled 300 via entrez): RS1000230349 (1:203171278 C>G), RS1000652636 (1:203179910 G>A), RS1000654536 (1:203180946 G>A), RS1000808349 (1:203175865 C>T), RS1000837393 (1:203170066 T>C), RS1001287878 (1:203170905 G>C), RS1001503380 (1:203167327 C>A), RS1001572920 (1:203176535 G>A,T), RS1002016645 (1:203180410 C>A,T), RS1002039786 (1:203180114 G>A,T), RS1002127657 (1:203174955 C>T), RS1002175590 (1:203175211 A>C,T), RS1002365717 (1:203169396 T>G), RS1002416673 (1:203169695 C>G), RS1002769160 (1:203171922 G>A,C)

Disease associations

OMIM: gene MIM:160795 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002595_27	Clozapine-induced agranulocytosis	9.000000e-06
GCST009798_35	Asthma	8.000000e-12

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs16851030	ADORA1, MYBPH	3	3.25	1	aspirin

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
sotorasib	affects cotreatment, decreases expression	1
bisphenol A	affects binding, increases reaction	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
1-hydroxypyrene	decreases methylation, affects cotreatment	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, decreases reaction	1
incobotulinumtoxinA	decreases expression	1
trametinib	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Cadmium	decreases expression	1
Carmustine	decreases expression	1
Cisplatin	increases expression	1
Copper	affects cotreatment, decreases expression	1
Endosulfan	increases expression	1
Hydrogen Peroxide	affects expression	1
Lipopolysaccharides	decreases reaction, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Metals, Heavy	affects cotreatment, decreases methylation	1
Okadaic Acid	decreases expression	1
Simvastatin	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.