1. Gene
  2. GANAB - glucosidase II alpha subunit Gene

GANAB - glucosidase II alpha subunit Gene

中文名称:葡萄糖苷酶 II α 亚基

种属: Homo sapiens

同用名: G2AN; GIIA; PKD3; GLUII

基因 ID: 23193 | 基因类型: protein coding

关于 GANAB

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,624,829-62,646,613 (from NCBI)

This gene has 17 transcripts (splice variants), 225 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 85.4), placenta (RPKM 75.3) and 25 other tissues.

功能概要

该基因编码葡萄糖苷酶 II 的 α 亚基和糖基水解酶 31 蛋白家族的成员。异二聚体酶葡萄糖苷酶 II 通过切割内质网中未成熟糖蛋白的葡萄糖残基,在蛋白质折叠和质量控制中发挥作用。编码蛋白的表达在肺肿瘤组织中升高,并响应紫外线照射。该基因的突变会导致常染色体显性多囊肾和肝病。[RefSeq 提供,2016 年 7 月]

This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]

GANAB 基因产物(9)

mRNA Protein Name
NM_001278192.2 NP_001265121.1 neutral alpha-glucosidase AB isoform 4
NM_001278193.2 NP_001265122.1 neutral alpha-glucosidase AB isoform 5
NM_001278194.2 NP_001265123.1 neutral alpha-glucosidase AB isoform 6
NM_001329222.2 NP_001316151.1 neutral alpha-glucosidase AB isoform 6
NM_001329223.2 NP_001316152.1 neutral alpha-glucosidase AB isoform 6
NM_001329224.2 NP_001316153.1 neutral alpha-glucosidase AB isoform 7
NM_001329225.2 NP_001316154.1 neutral alpha-glucosidase AB isoform 7
NM_198334.3 NP_938148.1 neutral alpha-glucosidase AB isoform 2 precursor
NM_198335.4 NP_938149.2 neutral alpha-glucosidase AB isoform 3 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables alpha-glucosidase activity IDA
IDA: 通过直接分析推断
28375157 GOA
enables glucan 1,3-alpha-glucosidase activity IDA
IDA: 通过直接分析推断
10929008 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10929008 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in N-glycan processing IDA
IDA: 通过直接分析推断
10929008 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of glucosidase II complex IDA
IDA: 通过直接分析推断
10929008 GOA
part of glucosidase II complex IPI
IPI: 通过物理相互作用推断
10929008 GOA
located in intracellular membrane-bounded organelle IMP
IMP: 通过突变表型推断
10929008 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

GANAB 蛋白结构

Gal_mutarotas_2

Gal_mutarotas_2: Galactose mutarotase-like (254 - 324)

Glyco_hydro_31

Glyco_hydro_31: Glycosyl hydrolases family 31 (366 - 810)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 944 a.a.
蛋白主名 其他名称

neutral alpha-glucosidase AB

alpha-glucosidase 2

GANAB 抗体

目录号 产品名 应用 反应物种
HY-P86886 GANAB Antibody (YA6579) WB, IHC-P, IF-Tissue, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

PKD3

Polycystic Kidney Disease, Adult, Type Iii

Apkd3

Polycystic Kidney Disease 3

Polycystic Kidney Disease, Type 3

Polycystic Kidney Disease 3 Without Polycystic Liver Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease

Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Congenital Anomalies Of Kidney And Urinary Tract 1

CAKUT1

Renal Hypodysplasia, Nonsyndromic, 1

Rhdns1

Congenital Anomalies Of The Kidney And Urinary Tract 1

Non-Syndromic Renal Hypodysplasia 1

Kidney And Urinary Tract, Anomalies, Congenital, Susceptibility To, Type 1

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

Type 1 Diabetes Mellitus 7

Diabetes Mellitus, Insulin-Dependent, 7

Iddm7

Insulin-Dependent Diabetes Mellitus 7

T1D7

Renal Dysplasia, Cystic

CYSRD

Renal Dysplasia, Cystic, Susceptibility To

Diffuse Cystic Renal Dysplasia

Renal Dysplasia Diffuse Cystic

Cystic Renal Dysplasia

Susceptibility To Cystic Renal Dysplasia

Dysplasia, Renal, Cystic, Susceptibility To

Multicystic Dysplastic Kidney

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 2

PKD2

Polycystic Kidney Disease, Adult, Type Ii

Apkd2

Polycystic Kidney Disease, Type 2

Adpkd2

Adult Polycystic Kidney Disease Type 2

Autosomal Dominant Polycystic Kidney Disease 2

Pkd-2

Polycystic Kidney Disease Adult Type Ii

Polycystic Kidney Type 2 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 2

Diabetes Insipidus, Nephrogenic, 2, Autosomal

Diabetes Insipidus, Nephrogenic, Autosomal

NDI2

Diabetes Insipidus, Nephrogenic, Type Ii

Diabetes Insipidus, Nephrogenic, 2

Nephrogenic Diabetes Insipidus Type 2

Autosomal Nephrogenic Diabetes Insipidus-2

Diabetes Insipidus, Nephrogenic Type 2

ANDI

Diabetes Insipidus Nephrogenic Type 2

Doid:0081061

Nephrogenic Diabetes Insipidus

Congenital Nephrogenic Diabetes Insipidus

Adh-Resistant Diabetes Insipidus

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly

Conorenal Syndrome

Saldino-Mainzer Syndrome

SRTD9

Mainzer-Saldino Syndrome

Mzsds

Mainzer-Saldino Disease

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy

Mainzer Saldino Syndrome

Conorenal Dysplasia

Mainzer-Saldino Chondrodysplasia

Saldino-Mainzer Dysplasia

Short-Rib Thoracic Dysplasia 9

Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome

Mss

Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

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 GANAB VGNC VGNC:41106
Felis catus GANAB VGNC VGNC:62459
Rattus norvegicus GANAB RGD RGD:1309775
Mus musculus GANAB MGD MGI:1097667
Macaca mulatta GANAB VGNC VGNC:72879
Bos taurus GANAB VGNC VGNC:29245