MAN2B1 - mannosidase alpha class 2B member 1 Gene

Homo sapiens

Also known as MANB; LAMAN

Gene ID: 4125 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08010	MAN2B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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