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MANBA - mannosidase beta Gene

Also Known as MANB1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4126

About MANBA

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:102,630,770-102,760,968 (from NCBI)

This gene has 17 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 8.4), thyroid (RPKM 6.6) and 25 other tissues.

Summary

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]

MANBA Products (1)

mRNA	Protein	Name
NM_005908.4	NP_005899.3	beta-mannosidase precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables beta-mannosidase activity	IDA IDA: Inferred from direct assay	30552791	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

MANBA Protein Structure

Glyco_hydro_2_N

Glyco_hydro_2_C

0
200
400
600
800
879 a.a.

Protein Preferred Names	Protein Names
beta-mannosidase	beta-mannosidase A

Related Diseases

Diseases	Alias
Mannosidosis, Beta A, Lysosomal	Beta-Mannosidosis Lysosomal Beta-Mannosidase Deficiency Beta-Mannosidase Deficiency Beta-D-Mannosidosis Mannosidosis, Beta MANSB Lysosomal Beta A Mannosidosis
Angiokeratoma	Angiokeratoma Of Skin Cutaneous Angiokeratoma Skin Angiokeratoma
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Mannosidosis, Alpha B, Lysosomal	Alpha-Mannosidosis Lysosomal Alpha-D-Mannosidase Deficiency Deficiency Of Alpha-Mannosidase Alpha-Mannosidase B Deficiency Mannosidosis MANSA Mannosidosis, Alpha-, Types I And Ii Alpha-D-Mannosidosis Alpha-Mannosidase Deficiency Α-Mannosidosis Alpha Mannosidase B Deficiency Mannosidosis, Alpha B Lysosomal Lysosomal Alpha B Mannosidosis Alpha-Mannosidosis, Infantile Form Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form Alpha-Mannosidosis, Adult Form Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form Alpha-Mannosidosis Types I And Ii Mannosidase Deficiency Diseases
Nystagmus 7, Congenital, Autosomal Dominant	NYS7 Congenital Nystagmus 7 Autosomal Dominant Congenital Nystagmus 7
Skin Hemangioma	Angioma Of The Skin Angiomatous Naevus Of Skin Hemangioma Of Skin
Nystagmus 6, Congenital, X-Linked	NYS6 Congenital Nystagmus 6 X-Linked Congenital Nystagmus 6 Nystagmus Congenital X-Linked 6 Nystagmus, Type 6, Congenital, X-Linked
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic Cardiomyopathy 3 CMH3 Cardiomyopathy, Hypertrophic, 3 Cardiomyopathy Familial Hypertrophic 3 Cardiomyopathy, Familial Hypertrophic 3 Cardiomyopathy, Hypertrophic, Familial, Type 3
Fucosidosis	Alpha-L-Fucosidase Deficiency Fucosidase Deficiency Disease A-Fucosidase Deficiency Alpha Fucosidase Deficiency Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues Alpha-Fucosidase Deficiency Fucosidase Deficiency FUCA1D
Galactosialidosis	Goldberg Syndrome Neuraminidase Deficiency With Beta-Galactosidase Deficiency Ppca Deficiency GSL Lysosomal Protective Protein Deficiency Cathepsin A Deficiency Neuraminidase/Beta-Galactosidase Expression Protective Protein/Cathepsin A Deficiency Ngbe Cathepsin A Deficiency Of Lysosomal Protective Protein Deficiency Of Deficiency Of Cathepsin A Neuraminidase Beta-Galactosidase Deficiency Protective Protein Cathepsin A Deficiency
Mucopolysaccharidosis, Type Vii	Sly Syndrome Beta-Glucuronidase Deficiency Mucopolysaccharidosis Vii Mucopolysaccharidosis Type Vii MPS7 Mps Vii Gusb Deficiency Mucopolysaccharidosis Type 7 Mucopolysaccharidosis 7 Deficiency Of Beta-Glucuronidase Mps Vii - Sly Syndrome Mps 7 Mpsvii Sly Disease Sl
Aspartylglucosaminuria	Aspartylglycosaminuria Glycosylasparaginase Deficiency Aspartylglucosaminidase Deficiency Aga Deficiency AGU Aspartylglucosamidase Deficiency Glycoasparaginase Aspartylglucosamidase Deficiency Hyperammonemia, Type Iii
Alcohol Dependence	Alcoholism Alcohol Dependence, Susceptibility To Alcohol Dependence, Protection Against Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against Alcoholism, Susceptibility To Alcoholic Intoxication, Chronic Pharyngeal Neoplasms Chronic Alcoholism Dipsomania Alcohol Addiction Ethanol Dependence Chronic Ethanolism Chronic Alcoholic Disease Nos Alcoholic Disease Nos Alcoholic

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P0020A	Tos-Gly-Pro-Arg-ANBA-IPA acetate		99.20%	Unkown
HY-RS08013	MANBA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P2858	β-Mannosidase		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MANBA	MGD	MGI:88175
Bos taurus	MANBA	VGNC	VGNC:31167
Macaca mulatta	MANBA	VGNC	VGNC:74486
Felis catus	MANBA	VGNC	VGNC:68148
Rattus norvegicus	MANBA	RGD	RGD:1305785
Canis familiaris	MANBA	VGNC	VGNC:42948
Others	MANBA	NCBI