GANAB - glucosidase II alpha subunit Gene

Also Known as G2AN; GIIA; PKD3; GLUII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23193

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-glucosidase activity	IDA IDA: Inferred from direct assay	28375157	GOA
enables glucan 1,3-alpha-glucosidase activity	IDA IDA: Inferred from direct assay	10929008	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10929008	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in N-glycan processing	IDA IDA: Inferred from direct assay	10929008	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of glucosidase II complex	IDA IDA: Inferred from direct assay	10929008	GOA
part of glucosidase II complex	IPI IPI: Inferred from physical interaction	10929008	GOA
located in intracellular membrane-bounded organelle	IMP IMP: Inferred from mutant phenotype	10929008	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GANAB Protein Structure

Gal_mutarotas_2

Glyco_hydro_31

0
200
400
600
800
944 a.a.

Protein Preferred Names	Protein Names
neutral alpha-glucosidase AB	alpha-glucosidase 2

GANAB Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86886	GANAB Antibody (YA6579)	WB, IHC-P, IF-Tissue, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-178202	5-C-phenethyl-DNJ	Inhibitor	/	Unkown
HY-RS05270	GANAB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	GANAB	NCBI