Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57462
Gene name	Myogenesis regulating glycosidase
Gene symbol	MYORG
Synonyms (NCBI Gene)	IBGC7KIAA1161NET37
Chromosome	9
Chromosome location	9p13.3

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
rs1563981743	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1563981857	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563982489	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1588003652	G>T	Likely-pathogenic	Stop gained, coding sequence variant

132

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
MIRT712437	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT712436	hsa-miR-4723-5p	HITS-CLIP	19536157
MIRT712435	hsa-miR-5698	HITS-CLIP	19536157
MIRT712434	hsa-miR-6870-5p	HITS-CLIP	19536157
MIRT712433	hsa-miR-7111-5p	HITS-CLIP	19536157
MIRT556814	hsa-miR-636	HITS-CLIP	19536157
MIRT556813	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT556812	hsa-miR-6844	HITS-CLIP	19536157
MIRT556810	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT556809	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT556808	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT556807	hsa-miR-2113	HITS-CLIP	19536157
MIRT440384	hsa-miR-218-5p	HITS-CLIP	19536157
MIRT712441	hsa-miR-4779	HITS-CLIP	19536157
MIRT712440	hsa-miR-4716-3p	HITS-CLIP	19536157
MIRT712439	hsa-miR-6794-5p	HITS-CLIP	19536157
MIRT712438	hsa-miR-6799-5p	HITS-CLIP	19536157
MIRT712437	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT712436	hsa-miR-4723-5p	HITS-CLIP	19536157
MIRT712435	hsa-miR-5698	HITS-CLIP	19536157
MIRT712434	hsa-miR-6870-5p	HITS-CLIP	19536157
MIRT712433	hsa-miR-7111-5p	HITS-CLIP	19536157
MIRT556814	hsa-miR-636	HITS-CLIP	19536157
MIRT556813	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT556812	hsa-miR-6844	HITS-CLIP	19536157
MIRT556810	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT556809	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT556808	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT556807	hsa-miR-2113	HITS-CLIP	19536157
MIRT440384	hsa-miR-218-5p	HITS-CLIP	19536157
MIRT712441	hsa-miR-4779	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
MIRT712437	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT712436	hsa-miR-4723-5p	HITS-CLIP	19536157
MIRT712435	hsa-miR-5698	HITS-CLIP	19536157
MIRT712434	hsa-miR-6870-5p	HITS-CLIP	19536157
MIRT712433	hsa-miR-7111-5p	HITS-CLIP	19536157
MIRT556814	hsa-miR-636	HITS-CLIP	19536157
MIRT556813	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT556812	hsa-miR-6844	HITS-CLIP	19536157
MIRT556810	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT556809	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT556808	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT556807	hsa-miR-2113	HITS-CLIP	19536157
MIRT623436	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT623435	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623433	hsa-miR-935	HITS-CLIP	23824327
MIRT642048	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT675951	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623431	hsa-miR-8064	HITS-CLIP	23824327
MIRT675950	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623436	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT623435	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623433	hsa-miR-935	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623431	hsa-miR-8064	HITS-CLIP	23824327
MIRT623436	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT623435	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623433	hsa-miR-935	HITS-CLIP	23824327
MIRT642048	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623431	hsa-miR-8064	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623433	hsa-miR-935	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623431	hsa-miR-8064	HITS-CLIP	23824327
MIRT623436	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT623435	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623433	hsa-miR-935	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623431	hsa-miR-8064	HITS-CLIP	23824327
MIRT623436	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT623435	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623436	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT623435	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623433	hsa-miR-935	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623431	hsa-miR-8064	HITS-CLIP	23824327
MIRT623436	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT623435	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623433	hsa-miR-935	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623431	hsa-miR-8064	HITS-CLIP	23824327
MIRT623436	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT623435	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623433	hsa-miR-935	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623431	hsa-miR-8064	HITS-CLIP	23824327
MIRT623436	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT623435	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT623434	hsa-miR-8485	HITS-CLIP	23824327
MIRT623433	hsa-miR-935	HITS-CLIP	23824327
MIRT623432	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623431	hsa-miR-8064	HITS-CLIP	23824327
MIRT440384	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT556818	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT556817	hsa-miR-6793-3p	PAR-CLIP	21572407
MIRT556816	hsa-miR-130b-5p	PAR-CLIP	21572407
MIRT556815	hsa-miR-3140-3p	PAR-CLIP	21572407
MIRT556814	hsa-miR-636	PAR-CLIP	21572407
MIRT556813	hsa-miR-4753-3p	PAR-CLIP	21572407
MIRT556812	hsa-miR-6844	PAR-CLIP	21572407
MIRT556811	hsa-miR-568	PAR-CLIP	21572407
MIRT556810	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT556809	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT556808	hsa-miR-6809-3p	PAR-CLIP	21572407
MIRT556807	hsa-miR-2113	PAR-CLIP	21572407
MIRT530908	hsa-miR-3133	PAR-CLIP	22012620
MIRT530907	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT530906	hsa-miR-142-5p	PAR-CLIP	22012620
MIRT530905	hsa-miR-5590-3p	PAR-CLIP	22012620
MIRT530904	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT440384	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440384	hsa-miR-218-5p	HITS-CLIP	23212916

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
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0031965	Component	Nuclear membrane	ISS
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	IEA
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	ISS
GO:0048741	Process	Skeletal muscle fiber development	IBA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IMP	19706595
GO:0048741	Process	Skeletal muscle fiber development	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS

MIM	HGNC	e!Ensembl
618255	19918	ENSG00000164976

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Basal ganglia calcification, idiopathic, 7, autosomal recessive	Likely pathogenic; Pathogenic	rs772374648, rs1237086797, rs1273216154, rs760451348, rs749427106, rs1563982489, rs1563981743, rs1563981857, rs1588003652, rs868530644, rs775762093, rs765483979	RCV002471395 RCV002470483 RCV003315134 RCV000754851 RCV000754852 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYORG-related disorder	Likely pathogenic	rs779317146, rs2491649495, rs2491649501	RCV003399088 RCV003418905 RCV003952122	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BILATERAL STRIOPALLIDODENTATE CALCINOSIS	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSARTHRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAHR'S DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAHRS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic basal ganglia calcification 1	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bilateral striopallidodentate calcinosis	Bilateral Striopallidodentate Calcinosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	32873236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	36862146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	30656188, 32873236, 39180105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	39180105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	35266134, 36862146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	36252969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	38192426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	30656188	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	GENOMICS_ENGLAND_DG	31009047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	30656188, 32873236, 33714066, 33793087, 35266134, 36252969, 36862146, 39180105	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fahr`s syndrome (disorder)	Fahr`s Syndrome	ORPHANET_DG	30649222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37451613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	39180105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	32873236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31157644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	36252969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	35266134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary familial brain calcification	Brain Calcification	BEFREE	29910000, 30589467, 30634018, 30891739, 30895394, 31009047, 31157644, 31440850, 31768941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary familial brain calcification	Brain Calcification	GENOMICS_ENGLAND_DG	31009047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcutaneous hemorrhage	Subcutaneous hemorrhage	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MYORG (myogenesis regulating glycosidase)