MAN2B1 - mannosidase alpha class 2B member 1 Gene

Also Known as MANB; LAMAN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4125

About MAN2B1

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,646,512-12,666,742 (from NCBI)

This gene has 17 transcripts (splice variants), 220 orthologues, 4 paralogues and is associated with 5 phenotypes. Ubiquitous expression in spleen (RPKM 48.9), appendix (RPKM 36.3) and 25 other tissues.

Summary

This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

MAN2B1 Products (2)

mRNA	Protein	Name
NM_000528.4	NP_000519.2	lysosomal alpha-mannosidase isoform 1 precursor
NM_001173498.2	NP_001166969.1	lysosomal alpha-mannosidase isoform 2 precursor

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in protein modification process	IDA IDA: Inferred from direct assay	8910458	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	25645918	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

MAN2B1 Protein Structure

Glyco_hydro_38

Alpha-mann_mid

Glyco_hydro_38C

0
200
400
600
800
1011 a.a.

Protein Preferred Names	Protein Names
lysosomal alpha-mannosidase	lysosomal acid alpha-mannosidase

Related Diseases

Diseases	Alias
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
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonyl-Coenzyme A Mutase Deficiency Methylmalonic Aciduria, Mut Type Methylmalonic Aciduria, Mut(0) Type Methylmalonic Acidemia Due To Methylmalonyl-Coa Mutase Deficiency Vitamin B12-Unresponsive Methylmalonic Aciduria Vitamin B12-Unresponsive Methylmalonic Acidemia Methylmalonic Aciduria, Mut Type Mma Due To Mcm Deficiency Methylmalonic Aciduria Mut Type Mcm Deficiency Methylmalonyl-Coa Mutase Deficiency Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 Complete Deficiency Of Methylmalonyl-Coa Mutase Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0 Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- Partial Deficiency Of Methylmalonyl-Coa Mutase Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut- MMAM Methylmalonicaciduria Due To Methylmalonyl-Coa Mutase Deficiency Methylmalonic Aciduria Type Mut Methylmalonicaciduria Vitamin B12 Unresponsive Aciduria, Methylmalonic, Due To Methylmalonyl-Coa Mutase Deficiency
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Mannosidosis, Beta A, Lysosomal	Beta-Mannosidosis Lysosomal Beta-Mannosidase Deficiency Beta-Mannosidase Deficiency Beta-D-Mannosidosis Mannosidosis, Beta MANSB Lysosomal Beta A Mannosidosis
Schindler Disease	Alpha-N-Acetylgalactosaminidase Deficiency Naga Deficiency Alpha-Galactosidase B Deficiency Alpha-Galnac Deficiency, Schindler Type Alpha-Naga Deficiency Angiokeratoma Corporis Diffusum-Glycopeptiduria Galb Deficiency Kanzaki Disease Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum Neuroaxonal Dystrophy, Schindler Type Neuronal Axonal Dystrophy, Schindler Type Schindler Disease, Type I Schindler Disease, Type Ii
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
Dysostosis	Dysostoses
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
Mucolipidosis Iii Alpha/Beta	Pseudo-Hurler Polydystrophy Mucolipidosis Iii Ml Iii Alpha/Beta Mucolipidosis Iiia Ml Iiia Ml Iii Ml 3 A Ml3 Mucolipidosis Type 3a Mucolipidosis Iii, Variant Mucolipidosis Type Iii Alpha/Beta Ml 3 Alpha/Beta Mucolipidosis Type 3 Alpha/Beta Mucolipidosis Type 3 Mucolipidosis Type Iii Complementation Group A MLIIIA Cariant Pseudo-Hurler Polydystrophy Mucolipidosis, Type Iii Alpha/Beta Mucolipidosis, Type Iii, Alpha/Beta
Hurler Syndrome	Mucopolysaccharidosis Ih Mucopolysaccharidosis Type Ih Mps1-H MPS1H Hurler Disease Mpsih Mucopolysaccharidosis Type 1h Alpha-L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Hurler Disease Mps Type 1h Hurler-Pfaundler Syndrome L-Iduronidase Deficiency, Hurler Type Mucopolysaccharidosis Type I Severe Form Mucopolysaccharidosis 1h Hurler'S Syndrome Mps Ih Mps-Ih Pfaundler-Hurler Syndrome Mucopolysaccharidosis I
Aspartylglucosaminuria	Aspartylglycosaminuria Glycosylasparaginase Deficiency Aspartylglucosaminidase Deficiency Aga Deficiency AGU Aspartylglucosamidase Deficiency Glycoasparaginase Aspartylglucosamidase Deficiency Hyperammonemia, Type Iii
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Niemann-Pick Disease, Type A	Niemann-Pick Disease Type A Sphingomyelin Lipidosis Sphingomyelinase Deficiency Niemann-Pick Disease, Intermediate, Protracted Neurovisceral Acid Sphingomyelinase Deficiency, Neurovisceral Type Asmd, Neurovisceral Type Infantile Neurovisceral Acid Sphingomyelinase Deficiency Infantile Neurovisceral Asmd Npd-A Niemann-Pick Disease A NPDA Classical Niemann-Pick Disease Niemann-Pick Disease Acute Neuronopathic Form Niemann-Pick Disease Acute Neurovisceral Form Niemann-Pick Disease Classical Infantile Form Niemann-Pick Disease Intermediate Protracted Neurovisceral Niemann-Pick Disease Neuronopathic Type Niemann-Pick Disease Type I Npa Niemann-Pick Diseases
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B

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-E70185	Lysosomal α-mannosidase		/	Unkown
HY-RS08010	MAN2B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MAN2B1	VGNC	VGNC:108249
Mus musculus	MAN2B1	MGD	MGI:107286
Rattus norvegicus	MAN2B1	RGD	RGD:3039
Bos taurus	MAN2B1	VGNC	VGNC:108504
Others	MAN2B1	NCBI