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

Glyco_hydro_31

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05270	GANAB Human Pre-designed siRNA Set A	Pre-designed Set	/	否

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

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GANAB - glucosidase II alpha subunit Gene

关于 GANAB

功能概要

GANAB 基因产物(9)

GANAB 蛋白结构

GANAB 抗体

关联疾病

直系同源

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GANAB - glucosidase II alpha subunit Gene

关于 GANAB

功能概要

GANAB 基因产物(9)

GANAB 蛋白结构

GANAB 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z