MB

Summary

MB (myoglobin, HGNC:6915) is a protein-coding gene on chromosome 22q12.3, encoding Myoglobin (P02144). Monomeric heme protein which primary function is to store oxygen and facilitate its diffusion within muscle tissues.

This gene encodes a member of the globin superfamily and is predominantly expressed in skeletal and cardiac muscles. The encoded protein forms a monomeric globular haemoprotein that is primarily responsible for the storage and facilitated transfer of oxygen from the cell membrane to the mitochondria. This protein also plays a role in regulating physiological levels of nitric oxide. Multiple transcript variants encoding distinct isoforms exist for this gene.

Source: NCBI Gene 4151 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myopathy, sarcoplasmic body (Strong, GenCC)
• GWAS associations: 9
• Clinical variants (ClinVar): 47 total
• Phenotypes (HPO): 14
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_005368

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6915
Approved symbol	MB
Name	myoglobin
Location	22q12.3
Locus type	gene with protein product
Status	Approved
Aliases	PVALB
Ensembl gene	ENSG00000198125
Ensembl biotype	protein_coding
OMIM	160000
Entrez	4151

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 20 protein_coding

ENST00000359787, ENST00000397326, ENST00000397328, ENST00000401702, ENST00000406324, ENST00000419229, ENST00000442617, ENST00000443033, ENST00000447607, ENST00000451685, ENST00000902250, ENST00000902251, ENST00000946177, ENST00000946178, ENST00000946179, ENST00000946180, ENST00000946181, ENST00000946182, ENST00000946183, ENST00000946184

RefSeq mRNA: 9 — MANE Select: NM_005368 NM_001362846, NM_001382809, NM_001382810, NM_001382811, NM_001382812, NM_001382813, NM_005368, NM_203377, NM_203378

CCDS: CCDS13917, CCDS93156

Canonical transcript exons

ENST00000397326 — 3 exons

Exon	Start	End
ENSE00001106915	35606764	35607443
ENSE00001528215	35617163	35617329
ENSE00003786954	35610884	35611106

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 99.97.

FANTOM5 (CAGE): breadth broad, TPM avg 39.8660 / max 7213.2796, expressed in 337 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193821	37.2052	123
193822	2.6608	313

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
heart right ventricle	UBERON:0002080	99.97	gold quality
gastrocnemius	UBERON:0001388	99.96	gold quality
triceps brachii	UBERON:0001509	99.96	gold quality
cardiac atrium	UBERON:0002081	99.95	gold quality
apex of heart	UBERON:0002098	99.95	gold quality
right atrium auricular region	UBERON:0006631	99.95	gold quality
biceps brachii	UBERON:0001507	99.94	gold quality
gluteal muscle	UBERON:0002000	99.94	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.94	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.94	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.94	gold quality
body of tongue	UBERON:0011876	99.94	gold quality
myocardium	UBERON:0002349	99.93	gold quality
deltoid	UBERON:0001476	99.92	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.92	gold quality
left ventricle myocardium	UBERON:0006566	99.92	gold quality
skeletal muscle tissue	UBERON:0001134	99.91	gold quality
tibialis anterior	UBERON:0001385	99.91	gold quality
diaphragm	UBERON:0001103	99.90	gold quality
quadriceps femoris	UBERON:0001377	99.90	gold quality
vastus lateralis	UBERON:0001379	99.90	gold quality
vena cava	UBERON:0004087	99.89	gold quality
cardiac ventricle	UBERON:0002082	99.82	gold quality
heart left ventricle	UBERON:0002084	99.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	98.62	gold quality
muscle organ	UBERON:0001630	98.60	gold quality
muscle of leg	UBERON:0001383	98.09	gold quality
muscle tissue	UBERON:0002385	97.62	gold quality
heart	UBERON:0000948	97.44	gold quality
endometrium epithelium	UBERON:0004811	94.52	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	12379.12
E-GEOD-125970	yes	16.83
E-MTAB-8410	yes	10.29
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF, ESR1, MEF2A, MYOD1, SP1, TBP, TCF3

miRNA regulators (miRDB)

18 targeting MB, 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-5193	100.00	67.26	1744
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-657	99.48	66.02	848
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-6890-3P	97.50	65.71	997
HSA-MIR-5089-3P	97.50	67.82	758
HSA-MIR-6762-5P	96.55	64.62	972
HSA-MIR-6845-5P	96.55	64.65	969
HSA-MIR-3170	95.84	64.32	721

Literature-anchored findings (GeneRIF, showing 40)

• Screening of exon 2 of the myoglobin gene in high altitude Tibetans does not show novel polymorphism or selection for specific myoglobin alleles as a function of altitude of residence or hypoxic challenge. (PMID:12006163)
• myoglobin/carbonic anhydrase III ratio in the blood proved to be a more specific indicator for myocardial damage than myoglobin alone after myocardial infarction. (PMID:12745799)
• It was concluded that myoglobin levels on admission and TnT at 2 h had the greatest diagnostic rate for myocardial infarction. (PMID:12760310)
• Oxidative stress associated with myoglobin expression specifically in mitochondrial diseases. (PMID:14506721)
• determination of myoglobin concentration and succinate dehydrogenase activity in serial sections indicate that myoglobin can lead to a substantial reduction (18-60%) of the extracellular oxygen tension required to prevent an anoxic core in muscle cells (PMID:15048578)
• Quantitative test is useful for early diagnosis of acute myocardial infarct and as an indicator of its severity. (PMID:15226628)
• Binding to blood fatty acid binding protein and may be a marker for cardiac damage in hemodialysis patients. (PMID:15226631)
• heme rotates about the alpha-gamma axis of human myoglobin without leaving the protein cage (PMID:15485667)
• energy analysis of myoglobin recognition of oxygen (PMID:15601759)
• S-nitroso oxymyoglobin stores vasoactive nitric oxide (PMID:15644316)
• iron mobilization and myoglobin down-modulation are elicited by enhanced erythropoiesis from elevated iron (PMID:17311997)
• Data show plasma MG may be considered as a novel marker of muscle mass indicating best the mass of MG-rich type 1 and 2a fibers as well as VO(2)max as an important functional readout. (PMID:17605115)
• analysis of covalent modification, unfolding, and aggregation of human holo-myoglobin induced by tyrosinase-generated quinones (PMID:17883274)
• In this study, we showed for the first time the connection of ROR2 in Dupuytren’s disease. ROR2 and myoglobin may play an important role in the pathophysiology of this disease (PMID:17996904)
• Hypoxia reprograms calcium signaling and regulates myoglobin expression. (PMID:19005161)
• The Dimension Vista cTnI, CK-MB, MYO, NTproBNP, and hsCRP methods demonstrate acceptable performance characteristics for use as an aid in the diagnosis and risk assessment of patients presenting with suspected acute coronary syndromes. (PMID:19523464)
• myoglobin is expressed at high levels by human carcinoma cells (PMID:19541931)
• Exposure of vascular smooth muscle (either in cell culture or intact vessels) to pathological nitric oxide (*NO) promotes an up-regulation of the Mb gene and protein, suggesting a feedback relationship between *NO and Mb. (PMID:19650765)
• Using a cardiovascular model suggest that myoglobin oxygen storage/transport becomes significant during systolic reduction of coronary blood flow rather than during diastole. (PMID:20124401)
• 71% of tumours displayed Mb protein expression in significant correlation with a positive hormone receptor status and better prognosis. (PMID:20531416)
• Water entry into the heme pockets of isolated hemoglobin subunits was detected by optical methods. (PMID:20668762)
• Kinetics of interaction between apomyoglobin and phospholipid membrane (PMID:20873231)
• These results show that glutathione reduces hydrogen peroxide-induced protein decomposition due to reduction of the C110-thiyl radical in WTwild type human Mb by electron transfer. (PMID:21256983)
• overexpression in non-small cell lung cancer is associated with histological subtype and hypoxia (PMID:21601304)
• Apomyoglobin mutants with point mutations at val10 forms amyloid structures at permissive temperature. (PMID:21639835)
• may have potential significance in the prognostication of lung adenocarcinomas (PMID:21640426)
• MD simulations supported NMR results indicating interesting structural/dynamical differences in the average volume and occurrence of the main cavities lining Mb prosthetic group. (PMID:21782983)
• The mitochondrion-impairing role of MB in hypoxic cancer cells is part of a novel tumor-suppressive function. (PMID:21930697)
• Our LFIA performance was additionally compared with electrochemiluminescence immunoassay (ECLI) detection for simultaneous determination of hs-cTnI and myoglobin in patients with suggestive of acute myocardial infarction . (PMID:23247055)
• Hydrophobic effect drives oxygen uptake in myoglobin via histidine E7. (PMID:23297402)
• Misfolding and amyloid aggregation of apomyoglobin. (PMID:23839096)
• Blood myoglobin could serve as a valuable early predictor and marker of rhabdomyolysis and acute myoglobinuric kidney injury (PMID:23931877)
• the novel cancer-associated MB splice variants exhibited increased expression in tumor cells subjected to experimental hypoxia; the novel gene regulatory mechanisms unveiled in this study support the idea of a non-canonical role of MB during carcinogenesis (PMID:24026678)
• High myoglobin expression is associated with renal cell carcinoma. (PMID:24076247)
• Findings indicate that myoglobin (Mb) and neuroglobin (Ngb) can be expressed in nonmuscle and non-neural contexts. (PMID:24446190)
• A non-ischemic serum myoglobin release is rare, but could be associated in subgroups of patients. (PMID:25002394)
• Analogous to breast cancer, MB expression in prostate cancer is associated with steroid hormone signaling and markers of hypoxia (PMID:25172328)
• Data show that chimeric neuroglobin and myoglobin were generated by swapping a regulatory segment. (PMID:25452214)
• Data show that with the myoglobin (MYO) monoclonal antibody of high specificity and affinity, a one-step sandwich ELISA for detecting MYO has been established successfully, which provides a basis for the development of domestic ELISA kit. (PMID:26271987)
• analysis of myoglobin gene regulatory networks in breast and prostate cancer (PMID:26559958)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mb	ENSDARG00000031952
mus_musculus	Mb	ENSMUSG00000018893
rattus_norvegicus	Mb	ENSRNOG00000004583
drosophila_melanogaster	glob1	FBGN0027657
caenorhabditis_elegans		WBGENE00008996
caenorhabditis_elegans		WBGENE00077763

Paralogs (11): HBQ1 (ENSG00000086506), HBZ (ENSG00000130656), CYGB (ENSG00000161544), HBA2 (ENSG00000188536), HBG2 (ENSG00000196565), HBA1 (ENSG00000206172), HBM (ENSG00000206177), HBE1 (ENSG00000213931), HBG1 (ENSG00000213934), HBD (ENSG00000223609), HBB (ENSG00000244734)

Protein

Protein identifiers

Myoglobin — P02144 (reviewed: P02144)

Alternative names: Nitrite reductase MB, Pseudoperoxidase MB

All UniProt accessions (7): A0A1K0FU49, B0QYF7, B0QYF8, F2Z2F1, F2Z337, P02144, Q8WVH6

UniProt curated annotations — full annotation on UniProt →

Function. Monomeric heme protein which primary function is to store oxygen and facilitate its diffusion within muscle tissues. Reversibly binds oxygen through a pentacoordinated heme iron and enables its timely and efficient release as needed during periods of heightened demand. Depending on the oxidative conditions of tissues and cells, and in addition to its ability to bind oxygen, it also has a nitrite reductase activity whereby it regulates the production of bioactive nitric oxide. Under stress conditions, like hypoxia and anoxia, it also protects cells against reactive oxygen species thanks to its pseudoperoxidase activity.

Subunit / interactions. Monomeric.

Subcellular location. Cytoplasm. Sarcoplasm.

Disease relevance. Myopathy, sarcoplasmic body (MYOSB) [MIM:620286] An autosomal dominant, slowly progressive muscle disorder manifesting in adulthood with proximal and axial weakness that progresses to involve distal muscles. Patients may lose ambulation after a long disease course, and some individuals develop respiratory or cardiac symptoms. Muscle pathology features include sarcoplasmic bodies in skeletal and cardiac muscles. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the globin family.

RefSeq proteins (9): NP_001349775, NP_001369738, NP_001369739, NP_001369740, NP_001369741, NP_001369742, NP_005359, NP_976311, NP_976312 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000971	Globin	Domain
IPR002335	Myoglobin	Family
IPR009050	Globin-like_sf	Homologous_superfamily

Pfam: PF00042

Catalyzed reactions (Rhea), 2 shown:

• H2O2 + AH2 = A + 2 H2O (RHEA:30275)
• Fe(III)-heme b-[protein] + nitric oxide + H2O = Fe(II)-heme b-[protein] + nitrite + 2 H(+) (RHEA:77711)

UniProt features (27 total): helix 10, sequence variant 5, binding site 3, sequence conflict 2, turn 2, modified residue 2, initiator methionine 1, chain 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3RGK	X-RAY DIFFRACTION	1.65

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02144-F1	97.26	0.98

Functional residue map

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

Ligand- & substrate-binding residues (3): 65; 65; 94 (proximal binding residue)

Post-translational modifications (2): 4, 68

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8981607	Intracellular oxygen transport
R-HSA-382551	Transport of small molecules

MSigDB gene sets: 304 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GOBP_MYELOID_CELL_DIFFERENTIATION, MODULE_93, AP1_01, GOBP_MYELOID_CELL_HOMEOSTASIS, MODULE_151, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_ERYTHROCYTE_HOMEOSTASIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_SUPEROXIDE_METABOLIC_PROCESS, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_SKELETAL_MUSCLE_CONTRACTION, CAGCTG_AP4_Q5

GO Biological Process (7): response to hypoxia (GO:0001666), skeletal muscle contraction (GO:0003009), heart development (GO:0007507), oxygen transport (GO:0015671), removal of superoxide radicals (GO:0019430), enucleate erythrocyte differentiation (GO:0043353), brown fat cell differentiation (GO:0050873)

GO Molecular Function (8): peroxidase activity (GO:0004601), oxygen carrier activity (GO:0005344), oxygen binding (GO:0019825), heme binding (GO:0020037), metal ion binding (GO:0046872), nitrite reductase activity (GO:0098809), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (4): cytosol (GO:0005829), sarcoplasm (GO:0016528), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cellular anatomical structure	2
response to stress	1
response to decreased oxygen levels	1
striated muscle contraction	1
musculoskeletal movement	1
animal organ development	1
circulatory system development	1
gas transport	1
superoxide metabolic process	1
cellular response to superoxide	1
cellular oxidant detoxification	1
erythrocyte differentiation	1
fat cell differentiation	1
antioxidant activity	1
oxidoreductase activity, acting on peroxide as acceptor	1
oxygen transport	1
oxygen binding	1
molecular carrier activity	1
small molecule binding	1
tetrapyrrole binding	1
cation binding	1
oxidoreductase activity, acting on other nitrogenous compounds as donors	1
binding	1
catalytic activity	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2358 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MB	CYCS	P00001	996
MB	ALB	P02768	992
MB	CYB5B	O43169	989
MB	CYB5A	P00167	989
MB	INS	P01308	985
MB	TG	P01266	973
MB	HP	P00737	970
MB	MT-CYB	P00156	968
MB	NGB	Q9NPG2	964
MB	RNASE1	P07998	930
MB	LALBA	P00709	918
MB	TNNI3	P19429	822
MB	PIK3C2A	O00443	789
MB	CRP	P02741	764
MB	CTRB2	Q6GPI1	735

IntAct

10 interactions, top by confidence:

A	B	Type	Score
CORT	MB	psi-mi:“MI:0914”(association)	0.560
CORT	MB	psi-mi:“MI:0915”(physical association)	0.560
YBEY	NME4	psi-mi:“MI:0914”(association)	0.530
MB	ANK1	psi-mi:“MI:0915”(physical association)	0.400
HSPB2	MB	psi-mi:“MI:0915”(physical association)	0.370
PPP1CA	ACO2	psi-mi:“MI:0914”(association)	0.350
MAML2	MB	psi-mi:“MI:0914”(association)	0.350
RGS2	MB	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): MB (Two-hybrid), ANK1 (Affinity Capture-MS), MB (Affinity Capture-MS), MB (Affinity Capture-MS), MB (Affinity Capture-MS), MB (Affinity Capture-MS), MB (Affinity Capture-MS), MB (Affinity Capture-MS), ANK1 (Affinity Capture-MS), MB (Affinity Capture-MS), MB (Co-fractionation), NQO1 (Co-fractionation), PEBP1 (Co-fractionation), LYPLAL1 (Co-fractionation), ATP11A (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: C0HJQ9, C0HJR0, C0HKB7, P02144, P02145, P02147, P02148, P02150, P02151, P02152, P02153, P02154, P02155, P02156, P02157, P02159, P02160, P02163, P02164, P02165, P02166, P02167, P02168, P02169, P02170, P02171, P02186, P02187, P02189, P02190, P02193, P04247, P04248, P04249, P04250, P11343, P14396, P20856, P62734, P62735

Diamond homologs: B7U9B5, C0HJQ9, C0HJR0, C0HKB7, G1NJB6, P02144, P02145, P02147, P02148, P02150, P02151, P02152, P02153, P02154, P02155, P02156, P02157, P02159, P02160, P02161, P02163, P02164, P02165, P02166, P02167, P02168, P02169, P02170, P02171, P02173, P02174, P02177, P02178, P02179, P02180, P02181, P02182, P02183, P02184, P02185

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	2
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1115 predictions. Top by Δscore:

Variant	Effect	Δscore
22:35607439:ATGAA:A	acceptor_gain	1.0000
22:35607440:TGAA:T	acceptor_gain	1.0000
22:35607441:GAAC:G	acceptor_loss	1.0000
22:35607442:AA:A	acceptor_gain	1.0000
22:35607443:AC:A	acceptor_loss	1.0000
22:35607444:C:CC	acceptor_gain	1.0000
22:35610880:CTAC:C	donor_loss	1.0000
22:35610882:A:C	donor_loss	1.0000
22:35610883:C:A	donor_loss	1.0000
22:35610885:T:TA	donor_gain	1.0000
22:35617154:T:TA	donor_gain	1.0000
22:35617175:T:TA	donor_gain	1.0000
22:36813642:CCAC:C	donor_loss	1.0000
22:36813643:CACCG:C	donor_loss	1.0000
22:36813644:A:C	donor_loss	1.0000
22:36813645:C:CG	donor_loss	1.0000
22:36813667:C:A	donor_gain	1.0000
22:36813756:C:CC	acceptor_gain	1.0000
22:36815097:GCTTA:G	donor_loss	1.0000
22:36815098:CTTAC:C	donor_loss	1.0000
22:36815099:TTAC:T	donor_loss	1.0000
22:36815100:TACC:T	donor_loss	1.0000
22:36815101:A:AC	donor_gain	1.0000
22:36815101:A:AG	donor_loss	1.0000
22:36815101:AC:A	donor_gain	1.0000
22:36815101:ACC:A	donor_gain	1.0000
22:36815102:C:CC	donor_gain	1.0000
22:36815102:C:CT	donor_loss	1.0000
22:36815102:CC:C	donor_gain	1.0000
22:36815102:CCC:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000131819 (22:35618067 C>T), RS1000485972 (22:35617823 G>A), RS1000561591 (22:35622427 C>T), RS1000573299 (22:35611280 C>A), RS1000633691 (22:35622123 A>T), RS1000702110 (22:35616205 G>A), RS1001138645 (22:35616430 C>T), RS1001296553 (22:35617796 C>A), RS1001371307 (22:35622646 G>T), RS1001425095 (22:35622828 C>A,T), RS1001723928 (22:35607022 A>G), RS1001769406 (22:35611886 C>A), RS1001821846 (22:35612263 G>A), RS1002046964 (22:35616664 G>T), RS1002069951 (22:35606800 G>A)

Disease associations

OMIM: gene MIM:160000 | disease phenotypes: MIM:620286

GenCC curated gene-disease

Disease	Classification	Inheritance
myopathy, sarcoplasmic body	Strong	Autosomal dominant

Mondo (2): colorectal carcinoma (MONDO:0024331), myopathy, sarcoplasmic body (MONDO:0859530)

Orphanet (0):

HPO phenotypes

14 total (14 of 14 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0002015	Dysphagia
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0003202	Skeletal muscle atrophy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003327	Axial muscle weakness
HP:0003557	Increased variability in muscle fiber diameter
HP:0003581	Adult onset
HP:0003687	Centrally nucleated skeletal muscle fibers
HP:0003803	Type 1 muscle fiber predominance
HP:0008994	Proximal lower limb muscle weakness
HP:0009005	Weakness of the intrinsic hand muscles
HP:0030319	Weakness of facial musculature
HP:0034722	Sarcoplasmic bodies

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001477_2	Sexual dysfunction (female)	2.000000e-06
GCST001762_894	Obesity-related traits	2.000000e-06
GCST005958_13	Waist-to-hip ratio adjusted for BMI (age >50)	1.000000e-06
GCST005962_33	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-06
GCST007732_10	Allergic disease (asthma, hay fever or eczema)	4.000000e-07
GCST009378_18	Bone mineral content	2.000000e-07
GCST009378_27	Bone mineral content	5.000000e-08
GCST009378_29	Bone mineral content	3.000000e-07
GCST010173_171	Triglyceride levels	2.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004714	sexual dysfunction
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007621	bone mineral content measurement
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2406892 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 157,242 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL112	ACETAMINOPHEN	4	157,242

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.92	IC50	1200	nM	CHEMBL2407813
5.64	IC50	2300	nM	CHEMBL2407811
5.64	IC50	2300	nM	ACETAMINOPHEN
5.28	IC50	5300	nM	CHEMBL2407812

PubChem BioAssay actives

4 with measured affinity, of 4 total; 4 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
6-hydroxy-3,4-dihydro-1H-pyrido[2,3-d]pyrimidin-2-one	760171: Inhibition of myoglobin (unknown origin)-mediated arachidonic acid oxidation using [14C]AA as substrate after 3 hrs by GC/NICI/MS analysis	ic50	1.2000	uM
Acetaminophen	760171: Inhibition of myoglobin (unknown origin)-mediated arachidonic acid oxidation using [14C]AA as substrate after 3 hrs by GC/NICI/MS analysis	ic50	2.3000	uM
6-hydroxy-5,7-dimethyl-3,4-dihydro-1H-pyrido[2,3-d]pyrimidin-2-one	760171: Inhibition of myoglobin (unknown origin)-mediated arachidonic acid oxidation using [14C]AA as substrate after 3 hrs by GC/NICI/MS analysis	ic50	2.3000	uM
6-hydroxy-5,7-dimethyl-1,4-dihydropyrido[2,3-d][1,3]oxazin-2-one	760171: Inhibition of myoglobin (unknown origin)-mediated arachidonic acid oxidation using [14C]AA as substrate after 3 hrs by GC/NICI/MS analysis	ic50	5.3000	uM

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, affects expression, decreases expression	4
bisphenol A	decreases expression, increases expression	2
sodium arsenite	affects cotreatment, increases expression	2
entinostat	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
Doxorubicin	decreases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Lipopolysaccharides	decreases reaction, increases expression, affects cotreatment, decreases expression	2
Nickel	decreases expression	2
Valproic Acid	decreases expression	2
methyleugenol	decreases expression	1
cumene hydroperoxide	affects metabolic processing	1
sulforaphane	decreases expression	1
perfluorooctanoic acid	increases expression	1
benzo(e)pyrene	increases methylation	1
cerous chloride	affects cotreatment, increases expression	1
lanthanum chloride	affects cotreatment, increases expression	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
erastin	increases reaction, increases response to substance, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
methyl 4-tolylsulfide	affects metabolic processing	1
Sunitinib	decreases expression	1
Atrazine	increases expression	1
Copper	decreases expression	1
Doxycycline	increases expression, increases reaction, decreases reaction, decreases expression, increases response to substance	1
Gallic Acid	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2411426	Binding	Inhibition of myoglobin (unknown origin)-mediated arachidonic acid oxidation using [14C]AA as substrate after 3 hrs by GC/NICI/MS analysis	Rational Design of Novel Pyridinol-Fused Ring Acetaminophen Analogues. — ACS Med Chem Lett

Cellosaurus cell lines

1 cell lines: 1 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C9JQ	WAe001-A-1S	Embryonic stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00114829	PHASE4	UNKNOWN	Preoperative Assessment of Colon Tumor
NCT00114842	PHASE4	COMPLETED	Magnetic Resonance (MR) Colonography With Fecal Tagging
NCT00114946	PHASE4	TERMINATED	A Study to Compare Two Avastin-Based Treatment Regimens for the Treatment of Metastatic Colorectal Cancer
NCT00122720	PHASE4	COMPLETED	The Effect of Darbepoetin Upon Rehabilitation for Colorectal Cancer Surgery
NCT00129870	PHASE4	TERMINATED	CONCEPT: Comparison of Oxaliplatin vs Conventional Methods With Calcium/Magnesium in First-Line Metastatic Colorectal Cancer
NCT00138060	PHASE4	COMPLETED	Toxicity/Benefit Ratio Optimization of Chemotherapy in Colorectal Cancer (CRC) Patients by Determination of Individual Genotypic Determinants
NCT00216424	PHASE4	TERMINATED	Capecitabine (Xeloda) and Radiation for Patients With Rectosigmoid Carcinoma
NCT00327093	PHASE4	TERMINATED	Elaboration of a Model for Predicting Efficacy of Monoclonal Antibodies (Cetuximab and Bevacizumab) in Patients With Colorectal Cancer and Liver Metastases
NCT00332943	PHASE4	COMPLETED	MR Colonography With Fecal Tagging. Barium vs. BariumFerumoxsil
NCT00441311	PHASE4	COMPLETED	Dissemination of Colorectal Cancer Screening to Primary Care Physicians
NCT00460837	PHASE4	WITHDRAWN	Comparison of Bowel Preparation in Virtual Colonoscopy (VC) - Patient Experience
NCT00473980	PHASE4	COMPLETED	Preoperative Non-steroidal Anti-inflammatory Drugs(NSAID) to Colorectal Cancer Patients
NCT00488904	PHASE4	COMPLETED	Omega-3 Fatty Acids and Postoperative Complications After Colorectal Surgery
NCT00496678	PHASE4	COMPLETED	Trial of Patient Navigation-Activation
NCT00502671	PHASE4	COMPLETED	A Study of Xeloda (Capecitabine) as Adjuvant Monotherapy in Patients With Colon Cancer.
NCT00559676	PHASE4	COMPLETED	Study of Biomarkers in Patients Undergoing Chemotherapy for Metastatic Colorectal Cancer
NCT00577031	PHASE4	COMPLETED	OBELIX Study: A Study of Avastin (Bevacizumab) in Combination With XELOX in Patients With Metastatic Cancer of the Colon or Rectum.
NCT00626054	PHASE4	COMPLETED	Comparison of Two Methods of Administration of a PEG Solution
NCT00812864	PHASE4	COMPLETED	Pharmacokinetic Study of Capecitabine in Elderly Cancer Patient (≥ 75 Years)
NCT00868569	PHASE4	UNKNOWN	Transhepatic Arterial Chemotherapy (TAC) Versus Transcatheter Arterial Chemoembolization (TACE) Plus Folfox4 as the Treatment of Unresectable Liver Metastasis of Colorectal Cancer
NCT00868816	PHASE4	COMPLETED	Oxaliplatine Based Adjuvant Chemotherapy for Stage II/III Colorectal Cancer: 8 Cycles Versus 12 Cycles
NCT00874406	PHASE4	UNKNOWN	Preoperative Transhepatic Arterial Chemotherapy (TAC) in the Treatment of Liver Metastasis of Resectable Colorectal Cancer
NCT00928928	PHASE4	COMPLETED	Oxidative Stress Markers in Open and Laparoscopic Colectomy for Cancer
NCT00942461	PHASE4	COMPLETED	Inflammatory Response in Laparoscopic and Open Colectomy
NCT01023633	PHASE4	UNKNOWN	OPTIMOX1 in Chinese mCRC Patients
NCT01175317	PHASE4	COMPLETED	Improvement of Fluid Balance in Patients Undergoing Surgery of the Colon and Rectum
NCT01271582	PHASE4	UNKNOWN	Investigation of Association Between UGT1A1 Polymorphisms and Irinotecan Toxicity in Korean Patients
NCT01315990	PHASE4	UNKNOWN	FOLFIRI in Combination With Cetuximab in the First-line Treatment of Metastatic Colorectal Cancer Including a Regular Dermal Prophylaxis to Prevent Acneiforme Follicular Exanthema
NCT01493713	PHASE4	COMPLETED	Correlation Between RECIST, Morphologic Response by CT- Histopathologic Response in Hepatic Metastasis Secondary to Colorectal Cancer
NCT01609660	PHASE4	COMPLETED	Impact of Probiotics on the Intestinal Microbiota
NCT01641458	PHASE4	COMPLETED	Pharmacology-driven Dosing of Fluoropyrimidines in Cancer Patients
NCT01689792	PHASE4	COMPLETED	A Multi-centre Study Comparing the Polyp Detection Rate of Two Different Types of Bowel Preparation: a 2-litre Solution (MOVIPREP®) Versus a Hyperosmotic and Stimulant Combined Low Volume Bowel Preparation (Sodium Picosulfate and Magnesium Citrate)
NCT01695772	PHASE4	COMPLETED	A Study of Bevacizumab Plus 5-Flurouracil (5-FU) Based Doublet Chemotherapy as Neoadjuvant Therapy for Participants With Previously Untreated Unresectable Liver-Only Metastases From Colorectal Cancer
NCT01695863	PHASE4	COMPLETED	Efficacy and Patient Satisfaction of Miralax and Gatorade Versus Movi Prep
NCT01706822	PHASE4	TERMINATED	Radial Reload Laparoscopic LAR Case Series
NCT01740947	PHASE4	TERMINATED	Does Administration of Antibiotics in Patients Undergoing Surgery for Colorectal Cancer Result in Less Complications and Better Prognosis?
NCT01831310	PHASE4	COMPLETED	Nutrition for Colorectal Cancer Patients and Neutrophil Functions
NCT01841294	PHASE4	UNKNOWN	NK Activity Modulation Induced by Intravenous Lidocaine During Colorectal Laparoscopic Surgery
NCT01959061	PHASE4	UNKNOWN	Efficacy and Safety of Raltitrexed-based Transarterial Chemoembolisation(TACE)for Colorectal Cancer Liver Metastases
NCT02032953	PHASE4	UNKNOWN	Enhancing the Anabolic Effect of Perioperative Nutrition With Insulin While Maintaining Normoglycemia