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MYORG myogenesis regulating glycosidase [ Homo sapiens (human) ]

Gene ID: 57462, updated on 27-Nov-2024

Summary

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Official Symbol
MYORGprovided by HGNC
Official Full Name
myogenesis regulating glycosidaseprovided by HGNC
Primary source
HGNC:HGNC:19918
See related
Ensembl:ENSG00000164976 MIM:618255; AllianceGenome:HGNC:19918
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IBGC7; NET37; KIAA1161
Summary
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, Nov 2024]
Expression
Broad expression in duodenum (RPKM 7.6), small intestine (RPKM 7.3) and 18 other tissues See more
Orthologs
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Genomic context

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See MYORG in Genome Data Viewer
Location:
9p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34366666..34376898, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34385154..34395421, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34366664..34376896, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34318623-34319288 Neighboring gene serpin family H member 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28308 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:34329280-34329787 Neighboring gene nudix hydrolase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34371826-34372326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34372327-34372827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34375663-34376244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34376245-34376825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34380811-34381416 Neighboring gene uncharacterized LOC124902144 Neighboring gene sperm microtubule inner protein 6 Neighboring gene family with sequence similarity 219 member A Neighboring gene uncharacterized LOC124902145

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review. Zhao T, et al. Mol Genet Genomic Med, 2023 Dec. PMID 37680026, Free PMC Article
  2. Evaluation of MYORG mutations as a novel cause of primary familial brain calcification. Chen Y, et al. Mov Disord, 2019 Feb. PMID 30589467
  3. A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. Forouhideh Y, et al. Brain, 2019 Feb 1. PMID 30649222
  4. MYORG is associated with recessive primary familial brain calcification. Arkadir D, et al. Ann Clin Transl Neurol, 2019 Jan. PMID 30656188, Free PMC Article
  5. Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family. Ramos EM, et al. Neurogenetics, 2019 May. PMID 30895394

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
    Title: Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
  2. Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
    Title: Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
  3. Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation.
    Title: Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation.
  4. MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes.
    Title: MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes.
  5. MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
    Title: MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
  6. Primary familial brain calcification caused by MYORG mutations in an Italian family.
    Title: Primary familial brain calcification caused by MYORG mutations in an Italian family.
  7. that MYORG is a novel major primary familial brain calcification causative gene and that the phenotype associated with such mutations may be recognized based on pedigree
    Title: Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
  8. MYORG mutations are linked to a recessive form of primary familial brain calcification. This association was recently described in patients of Chinese ancestry. Study suggests the possibility that MYORG mutations lead to calcification in a PDGFRbeta-related pathway.
    Title: MYORG is associated with recessive primary familial brain calcification.
  9. analysis of a novel homozygous MYORG mutation in a consanguineous Italian family indicates that it may have a role in primary familial brain calcification as well as in brain calcifications of heterozygous carriers
    Title: Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.
  10. MYORG as a novel causative gene for primary familial brain calcification
    Title: Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Basal ganglia calcification, idiopathic, 7, autosomal recessive
MedGen: C5193025 OMIM: 618317 GeneReviews: Not available
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Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of insulin-like growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in skeletal muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in skeletal muscle fiber development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in skeletal muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nuclear membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
myogenesis-regulating glycosidase
Names
myogenesis regulating glycosidase (putative)
NP_065753.2
XP_011516268.1
XP_016870419.1
XP_054219293.1
XP_054219294.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_020702.5 → NP_065753.2  myogenesis-regulating glycosidase

    See identical proteins and their annotated locations for NP_065753.2

    Status: VALIDATED

    Source sequence(s)
    AB032987, AI066728, AL356494, AW008982, BC110493, CB988183
    Consensus CDS
    CCDS78391.1
    UniProtKB/Swiss-Prot
    Q5T587, Q5T588, Q6NSJ0, Q9ULQ9
    Related
    ENSP00000297625.8, ENST00000297625.8
    Conserved Domains (2) summary
    cd06592
    Location:314 → 682
    GH31_NET37; glucosidase NET37
    pfam01055
    Location:329 → 707
    Glyco_hydro_31; Glycosyl hydrolases family 31

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    34366666..34376898 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517966.4 → XP_011516268.1  myogenesis-regulating glycosidase isoform X1

    See identical proteins and their annotated locations for XP_011516268.1

    UniProtKB/Swiss-Prot
    Q5T587, Q5T588, Q6NSJ0, Q9ULQ9
    Conserved Domains (2) summary
    cd06592
    Location:314 → 682
    GH31_NET37; glucosidase NET37
    pfam01055
    Location:329 → 707
    Glyco_hydro_31; Glycosyl hydrolases family 31

  2. XM_017014930.3 → XP_016870419.1  myogenesis-regulating glycosidase isoform X1

    UniProtKB/Swiss-Prot
    Q5T587, Q5T588, Q6NSJ0, Q9ULQ9
    Conserved Domains (2) summary
    cd06592
    Location:314 → 682
    GH31_NET37; glucosidase NET37
    pfam01055
    Location:329 → 707
    Glyco_hydro_31; Glycosyl hydrolases family 31

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    34385154..34395421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363319.1 → XP_054219294.1  myogenesis-regulating glycosidase isoform X1

  2. XM_054363318.1 → XP_054219293.1  myogenesis-regulating glycosidase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NSJ0.2 GenPept UniProtKB/Swiss-Prot:Q6NSJ0

Gene LinkOut

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