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    MYORG myogenesis regulating glycosidase (putative) [ Homo sapiens (human) ]

    Gene ID: 57462, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MYORGprovided by HGNC
    Official Full Name
    myogenesis regulating glycosidase (putative)provided 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, Apr 2022]
    Expression
    Broad expression in duodenum (RPKM 7.6), small intestine (RPKM 7.3) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34366666..34376898, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34385154..34395421, complement)
    105.20220307 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. Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation. Du J, et al. Mov Disord, 2021 Nov. PMID 34346093
    2. MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes. Malaquias MJ, et al. Clin Genet, 2020 Nov. PMID 32896900
    3. MYORG Mutation Heterozygosity Is Associated With Brain Calcification. Chen Y, et al. Mov Disord, 2020 Apr. PMID 31951047
    4. Primary familial brain calcification caused by MYORG mutations in an Italian family. Taglia I, et al. Parkinsonism Relat Disord, 2019 Oct. PMID 31621601
    5. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype. Grangeon L, et al. Brain, 2019 Jun 1. PMID 31009047

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
      Title: MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. A point mutation in MYORG is associated with primary familial brain calcification in a Turkish family.
      Title: A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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
    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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