MYORG (myogenesis regulating glycosidase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57462
Gene name Gene Name - the full gene name approved by the HGNC.
Myogenesis regulating glycosidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYORG
Synonyms (NCBI Gene) Gene synonyms aliases
IBGC7, KIAA1161, NET37
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs749427106 G>A,C Likely-pathogenic Missense variant, coding sequence variant
rs760451348 C>A,T Pathogenic Coding sequence variant, stop gained, missense variant
rs765483979 T>C Likely-pathogenic Coding sequence variant, missense variant
rs775762093 ->GCCAGGCGGAAG Likely-pathogenic Coding sequence variant, inframe insertion
rs868530644 C>A,T Likely-pathogenic Coding sequence variant, missense variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(132)
miRTarBase ID miRNA Experiments Reference
MIRT440384 hsa-miR-218-5p HITS-CLIP 19536157
MIRT712440 hsa-miR-4716-3p HITS-CLIP 19536157
MIRT712439 hsa-miR-6794-5p HITS-CLIP 19536157
MIRT556816 hsa-miR-130b-5p HITS-CLIP 19536157
MIRT712438 hsa-miR-6799-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0005634 Component Nucleus IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618255 19918 ENSG00000164976
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6NSJ0
Protein name Myogenesis-regulating glycosidase (EC 3.2.1.-) (Uncharacterized family 31 glucosidase KIAA1161)
Protein function Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2.
PDB 7QQF , 7QQG , 7QQH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01055 Glyco_hydro_31 307 → 511 Glycosyl hydrolases family 31 Family
PF01055 Glyco_hydro_31 520 → 711 Glycosyl hydrolases family 31 Family
Sequence 
MLQNPQEKSQAYPRRRRPGCYAYRQNPEAIAAAAMYTFLPDNFSPAKPKPSKDLKPLLGS
AVLGLLLVLAAVVAWCYYSVSLRKAERLRAELLDLKAGGFSIRNQKGEQVFRLAFRSGAL
DLDSCSRDGALLGCSLTADGLPLHFFIQTVRPKDTVMCYRVRWEEAAPGRAVEHAMFLGD
AAAHWYGGAEMRTQHWPIRLDGQQEPQPFVTSDVYSSDAAFGGILERYWLSSRAAAIKVN
DSVPFHLGWNSTERSLRLQARYHDTPYKPPAGRAAAPELSYRVCVGSDVTSIHKYMVRRY
FNKPSRVPAPEAFRDPIWSTWALYGRAVDQDKVLRFAQQIRLHHFNSSHLEIDDMYTPAY
GDFDFDEVKFPNASDMFRRLRDAGFRVTLWVHPFVNYNSSRFGEGVERELFVREPTGRLP
ALVRWWNGIGAVLDFTHPKARDWFQGHLRRLRSRYSVASFKFDAGEVSYLPRDFSTYRPL
PDPSVWSRRYTEMALPFFSLAEVRVGYQSQNISCFFRLVDRDSVWGYDLGLRSLIPAVLT
VSMLGYPFILPDMVGGNAVPQRTAGGDVPERELYIRWLEVAAFMPAMQFSIPPWRYDAEV
VAIAQKFAALRASLVAPLLLELAGEVTDTGDPIVRPLWWIAPGDETAHRIDSQFLIGDTL
LVAPVLEPGKQERDVYLPAGKWRSYKGELFDKTPVLLTDYPVDLDEIAYFTWAS
Sequence length 714
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Basal ganglia calcification Basal ganglia calcification, idiopathic, 7, autosomal recessive rs868530644, rs775762093, rs765483979, rs760451348, rs749427106, rs1563982489, rs1563981743, rs1563981857, rs1588003652 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bilateral Striopallidodentate Calcinosis bilateral striopallidodentate calcinosis N/A N/A GenCC
Diabetes Diabetic retinopathy in type 2 diabetes N/A N/A GWAS
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 32873236
Brain Stem Neoplasms Associate 36862146
Calcinosis Associate 30656188, 32873236, 39180105
Cerebellar Ataxia Associate 39180105
Cerebellar Diseases Associate 35266134, 36862146
Cerebral Infarction Associate 36252969
Diabetes Mellitus Type 2 Associate 38192426
Dysarthria Associate 30656188
Fahr's disease Associate 30656188, 32873236, 33714066, 33793087, 35266134, 36252969, 36862146, 39180105
Gliosis Associate 39180105