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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MB
myoglobin
Chromosome 22 · 22q12.3
NCBI Gene: 4151Ensembl: ENSG00000198125.13HGNC: HGNC:6915UniProt: A0A1K0FU49
95PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
oxygen carrier activityremoval of superoxide radicalsprotein bindingextracellular exosomemyopathy, sarcoplasmic bodycolorectal carcinomaacute kidney injuryneoplasm
✦AI Summary

Based on the provided abstracts, there is insufficient information to provide a comprehensive gene function summary for MB (myoglobin). The abstracts primarily discuss medulloblastoma (MB) cancer research, methylene blue (MB) treatment studies, and other unrelated topics, but do not contain specific information about myoglobin gene function, mechanism, or clinical significance. While the UniProt summary indicates that myoglobin is a monomeric heme protein that stores and facilitates oxygen diffusion in muscle tissues, reversibly binds oxygen through pentacoordinated heme iron, and has nitrite reductase and pseudoperoxidase activities under certain conditions, none of these functions are supported by the provided PubMed abstracts. To write an evidence-based summary of myoglobin gene function, abstracts specifically addressing myoglobin's oxygen storage mechanism, tissue distribution, physiological roles, and any disease associations would be required.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
myopathy, sarcoplasmic bodyOpen Targets
0.34Weak
colorectal carcinomaOpen Targets
0.27Weak
acute kidney injuryOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
diabetic nephropathyOpen Targets
0.09Suggestive
myocarditisOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.07Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
dilated cardiomyopathyOpen Targets
0.06Suggestive
dilated cardiomyopathy 1MOpen Targets
0.05Suggestive
ovarian dysfunctionOpen Targets
0.05Suggestive
rhabdomyolysisOpen Targets
0.05Suggestive
Familial dilated cardiomyopathy with conduction defect due to LMNA mutationOpen Targets
0.05Suggestive
dilated cardiomyopathy 2AOpen Targets
0.05Suggestive
hypertrophic cardiomyopathy 15Open Targets
0.05Suggestive
dilated cardiomyopathy 1UOpen Targets
0.05Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
Myopathy, sarcoplasmic bodyUniProt
Pathogenic Variants1
NM_005368.3(MB):c.292C>T (p.His98Tyr)Pathogenic
Myopathy, sarcoplasmic body|Colorectal carcinoma
★★☆☆2025→ Residue 98
View on ClinVar ↗
Related Genes
CYB5AProtein interaction100%CYB5BProtein interaction100%CYTBProtein interaction100%CTRB1Protein interaction99%INSProtein interaction99%CYCSProtein interaction99%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Liver
0%
Ovary
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MBCYB5ACYB5BCYTBCTRB1INSCYCS
PROTEIN STRUCTURE
Preparing viewer…
PDB3RGK · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.57 [0.34–1.03]
RankingsWhere MB stands among ~20K protein-coding genes
  • #5,040of 20,598
    Most Researched95 · top quartile
  • #4,904of 5,498
    Most Pathogenic Variants1
  • #10,255of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedMB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Health Benefits of Intermittent Fasting.
PMID: 38955141
Microb Physiol · 2024
1.00
2
CNOT2 promotes proliferation and angiogenesis via VEGF signaling in MDA-MB-231 breast cancer cells.
PMID: 29024811
Cancer Lett · 2018
0.90
3
Infusion of methylene blue in human septic shock: a pilot, randomized, controlled study.
PMID: 11588440
Crit Care Med · 2001
0.80
4
Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study.
PMID: 28545823
Lancet Oncol · 2017
0.70
5
A simple and scalable zebrafish model of Sonic hedgehog medulloblastoma.
PMID: 39078737
Cell Rep · 2024
0.60