1. Gene
  2. MYORG - myogenesis regulating glycosidase (putative) Gene

MYORG - myogenesis regulating glycosidase (putative) Gene

中文名称:肌生成调节糖苷酶 (假定)

种属: Homo sapiens

同用名: IBGC7; NET37; KIAA1161

基因 ID: 57462 | 基因类型: protein coding

关于 MYORG

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,366,666-34,376,898 (from NCBI)

This gene has 2 transcripts (splice variants), 281 orthologues, 6 paralogues and is associated with 2 phenotypes. Broad expression in duodenum (RPKM 7.6), small intestine (RPKM 7.3) and 18 other tissues.

功能概要

预测可启用水解酶活性,水解 O-糖基化合物。参与骨骼肌纤维的发育。预测位于内质网膜和核膜。与基底神经节钙化有关。 [由基因组资源联盟提供,2022 年 4 月]

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]

MYORG 基因产物(1)

mRNA Protein Name
NM_020702.5 NP_065753.2 myogenesis-regulating glycosidase
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in skeletal muscle fiber development IMP
IMP: 通过突变表型推断
19706595 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MYORG 蛋白结构

Glyco_hydro_31

Glyco_hydro_31: Glycosyl hydrolases family 31 (292 - 674)

  • 0
  • 200
  • 400
  • 600
  • 680 a.a.
蛋白主名 其他名称

myogenesis-regulating glycosidase

关联疾病

疾病名称 别名
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive

IBGC7

Basal Ganglia Calcification, Idiopathic, 1

Primary Familial Brain Calcification

Pfbc

Bspdc

Bilateral Striopallidodentate Calcinosis

Cerebrovascular Ferrocalcinosis

IBGC1

Familial Idiopathic Basal Ganglia Calcification

Idiopathic Basal Ganglia Calcification 1

Striopallidodentate Calcinosis, Bilateral

Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset

Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset

Ferrocalcinosis, Cerebrovascular

Fahr Disease, Familial, Formerly

Basal Ganglia Calcification, Idiopathic, 3, Formerly

Ibgc3, Formerly

Basal Ganglia Calcification, Idiopathic, 2, Formerly

Ibgc2, Formerly

Fibgc

Striopallidodentate Calcinosis

Idiopathic Basal Ganglia Calcification

Ferrocalcinosis Cerebro Vascular

Autosomal Dominant Adult-Onset Striopallidodentate Calcinosis

Familial Fahr Disease

Ibgc2

Ibgc3

Idiopathic Basal Ganglia Calcification 2

Idiopathic Basal Ganglia Calcification 3

Non-Arteriosclerotic, Idiopathic, Adult-Onset Cerebral Calcification

Basal Ganglia Calcification, Idiopathic

Calcification, Basal Ganglia, Idiopathic

Calcification, Basal Ganglia, Idiopathic, Type 1

Fahr'S Syndrome

Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease

Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia

Optic Disk Drusen

Optic Disc Drusen

Drusen Of Optic Disc

Optic Nerve Head Drusen

Drusen Optic Disc

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Lingual-Facial-Buccal Dyskinesia

Orofacial Dyskinesia

Oro-Facial Dyskinesia

Dyskinesias

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris MYORG VGNC VGNC:55157
Mus musculus MYORG MGD MGI:2140300
Felis catus MYORG VGNC VGNC:102953
Rattus norvegicus MYORG RGD RGD:1309821
Macaca mulatta MYORG VGNC VGNC:103279