MYORG
Myogenesis-regulating glycosidase
Also known as: KIAA1161, MYORG_HUMAN, NET37
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6NSJ0
- Gene
- MYORG
- Ensembl
- ENSG00000164976
- Chromosome
- 9
- Canonical length
- 714 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Mitochondria
- Quaternary structure
- Homodimer
OverviewNCBI Gene
Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Involved in skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Implicated in basal ganglia calcification. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
714 residues, UniProt reviewed canonical sequence.
>Q6NSJ0|MYORG
1 MLQNPQEKSQ AYPRRRRPGC YAYRQNPEAI AAAAMYTFLP DNFSPAKPKP SKDLKPLLGS
61 AVLGLLLVLA AVVAWCYYSV SLRKAERLRA ELLDLKAGGF SIRNQKGEQV FRLAFRSGAL
121 DLDSCSRDGA LLGCSLTADG LPLHFFIQTV RPKDTVMCYR VRWEEAAPGR AVEHAMFLGD
181 AAAHWYGGAE MRTQHWPIRL DGQQEPQPFV TSDVYSSDAA FGGILERYWL SSRAAAIKVN
241 DSVPFHLGWN STERSLRLQA RYHDTPYKPP AGRAAAPELS YRVCVGSDVT SIHKYMVRRY
301 FNKPSRVPAP EAFRDPIWST WALYGRAVDQ DKVLRFAQQI RLHHFNSSHL EIDDMYTPAY
361 GDFDFDEVKF PNASDMFRRL RDAGFRVTLW VHPFVNYNSS RFGEGVEREL FVREPTGRLP
421 ALVRWWNGIG AVLDFTHPKA RDWFQGHLRR LRSRYSVASF KFDAGEVSYL PRDFSTYRPL
481 PDPSVWSRRY TEMALPFFSL AEVRVGYQSQ NISCFFRLVD RDSVWGYDLG LRSLIPAVLT
541 VSMLGYPFIL PDMVGGNAVP QRTAGGDVPE RELYIRWLEV AAFMPAMQFS IPPWRYDAEV
601 VAIAQKFAAL RASLVAPLLL ELAGEVTDTG DPIVRPLWWI APGDETAHRI DSQFLIGDTL
661 LVAPVLEPGK QERDVYLPAG KWRSYKGELF DKTPVLLTDY PVDLDEIAYF TWASLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MYORG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 79 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 79 nTPM
- liver: 39 nTPM
- tongue: 37 nTPM
- basal ganglia: 30 nTPM
- cerebral cortex: 27 nTPM
- duodenum: 26 nTPM
Single-cell type
- cytotrophoblasts: 73 nCPM
- enterocytes: 70 nCPM
- hepatocytes: 59 nCPM
- colonocytes: 49 nCPM
- astrocytes: 36 nCPM
- parietal cells: 35 nCPM
Immune cell
- gdT-cell: 0.7 nTPM
- T-reg: 0.6 nTPM
- MAIT T-cell: 0.5 nTPM
- basophil: 0.4 nTPM
- memory CD4 T-cell: 0.4 nTPM
- memory CD8 T-cell: 0.4 nTPM
Brain region
- medulla oblongata: 75 nTPM
- midbrain: 72 nTPM
- thalamus: 69 nTPM
- cerebral cortex: 66 nTPM
- amygdala: 65 nTPM
- basal ganglia: 65 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MYORG.
Disease | AllUniProt
Conditions MYORG is implicated in, by any mechanism.
- Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) MIM:618317
Disease | GeneticClinVar
37 pathogenic / likely-pathogenic of 298 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Basal ganglia calcification, idiopathic, 7, autosomal recessive
- MYORG-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.34
- gnomAD pLI
- 0
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- carbohydrate metabolic process
- positive regulation of insulin-like growth factor receptor signaling pathway
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- skeletal muscle fiber development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MYORG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MYORG as an antibody target. Whether an autoantibody or antibody against MYORG could matter depends on whether native MYORG is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MYORG is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MYORG as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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