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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV000754854 RCV000754856 RCV000754857 RCV000853517 RCV000853514 RCV000853529 RCV000853533
MYORG-related disorder	Likely pathogenic	rs779317146, rs2491649495, rs2491649501	RCV003399088 RCV003418905 RCV003952122

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Idiopathic basal ganglia calcification 1	Conflicting classifications of pathogenicity	rs866335788	RCV005420454
See cases	Uncertain significance	rs1284757068	RCV002252893
Uterine carcinosarcoma	Benign	rs2297776	RCV005912943

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Hypertension	Associate	37451613
Hypertrophy	Associate	39180105
Nerve Degeneration	Associate	39180105
Nervous System Diseases	Associate	32873236
Paresis	Associate	36252969
Parkinson Disease Secondary	Associate	35266134

MYORG (myogenesis regulating glycosidase)