Free for academic non-profit institutions. Other users need a Commercial license

MAN2B1 Gene(Protein Coding)

Mannosidase Alpha Class 2B Member 1

GCID:
GC19M012649
GIFtS:
65
Genes Participants
UDN Logo

Aliases for MAN2B1 Gene

Aliases for MAN2B1 Gene

  • Mannosidase Alpha Class 2B Member 1 2 3 4
  • Mannosidase, Alpha, Class 2B, Member 1 2 3 5
  • Lysosomal Acid Alpha-Mannosidase 3 4
  • Mannosidase Alpha-B 3 4
  • EC 3.2.1.24 4 63
  • LAMAN 3 4
  • MANB 3 4
  • Mannosidase, Alpha B, Lysosomal 3
  • EC 3.2.1 63

External Ids for MAN2B1 Gene

Previous HGNC Symbols for MAN2B1 Gene

  • MANB

Previous GeneCards Identifiers for MAN2B1 Gene

  • GC19M012888
  • GC19M012980
  • GC19M012602
  • GC19M012618
  • GC19M012757
  • GC19M012330

Summaries for MAN2B1 Gene

Entrez Gene Summary for MAN2B1 Gene

  • 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]

GeneCards Summary for MAN2B1 Gene

MAN2B1 (Mannosidase Alpha Class 2B Member 1) is a Protein Coding gene. Diseases associated with MAN2B1 include Mannosidosis, Alpha-, Types I And Ii and Alpha-Mannosidosis, Infantile Form. Among its related pathways are Glycosaminoglycan metabolism and Lysosome. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity. An important paralog of this gene is MAN2B2.

UniProtKB/Swiss-Prot for MAN2B1 Gene

  • Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.

Tocris Summary for MAN2B1 Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN2B1 Gene

Genomics for MAN2B1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for MAN2B1 Gene

Enhancers for MAN2B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MAN2B1 on UCSC Golden Path with GeneCards custom track

Promoters for MAN2B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAN2B1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MAN2B1 gene promoter:

Genomic Location for MAN2B1 Gene

Chromosome:
19
Start:
12,646,508 bp from pter
End:
12,666,777 bp from pter
Size:
20,270 bases
Orientation:
Minus strand

Genomic View for MAN2B1 Gene

Genes around MAN2B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAN2B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAN2B1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAN2B1 Gene

Proteins for MAN2B1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MAN2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00754-MA2B1_HUMAN
    Recommended name:
    Lysosomal alpha-mannosidase
    Protein Accession:
    O00754
    Secondary Accessions:
    • G5E928
    • O15330
    • Q16680
    • Q93094
    • Q9BW13

    Protein attributes for MAN2B1 Gene

    Size:
    1011 amino acids
    Molecular mass:
    113744 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB03816.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAC50812.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MAN2B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAN2B1 Gene

Proteomics data for MAN2B1 Gene at MOPED

Protein Expression for MAN2B1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MAN2B1 Gene

O00754:

Post-translational modifications for MAN2B1 Gene

  • First processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). The 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked.
  • Heavily glycosylated.
  • Glycosylation at Asn 133, Asn 310, Asn 367, Asn 497, Asn 645, Asn 651, Asn 692, Asn 766, Asn 832, Asn 930, and Asn 989
  • Modification sites at PhosphoSitePlus

Other Protein References for MAN2B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MAN2B1 Gene

Gene Families for MAN2B1 Gene

HGNC:

Protein Domains for MAN2B1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MAN2B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00754

UniProtKB/Swiss-Prot:

MA2B1_HUMAN :
  • Belongs to the glycosyl hydrolase 38 family.
Family:
  • Belongs to the glycosyl hydrolase 38 family.
genes like me logo Genes that share domains with MAN2B1: view

Function for MAN2B1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for MAN2B1 Gene

GENATLAS Biochemistry:
mannosidase alpha B isoform,exoglycosidase,110kDa,lysosomal,Golgi,involved in processing of Asp-linked (N) glycans
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.
UniProtKB/Swiss-Prot Function:
Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.

Enzyme Numbers (IUBMB) for MAN2B1 Gene

Gene Ontology (GO) - Molecular Function for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004559 alpha-mannosidase activity IEA,TAS --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with MAN2B1: view

Phenotypes for MAN2B1 Gene

MGI mutant phenotypes for MAN2B1:
inferred from 1 alleles
GenomeRNAi human phenotypes for MAN2B1:
genes like me logo Genes that share phenotypes with MAN2B1: view

Human Phenotype Ontology for MAN2B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAN2B1 Gene

MGI Knock Outs for MAN2B1:

Animal Model Products

miRNA for MAN2B1 Gene

miRTarBase miRNAs that target MAN2B1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for MAN2B1 Gene

Localization for MAN2B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN2B1 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAN2B1 Gene COMPARTMENTS Subcellular localization image for MAN2B1 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
cytosol 3
endoplasmic reticulum 2
nucleus 2
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with MAN2B1: view

Pathways & Interactions for MAN2B1 Gene

genes like me logo Genes that share pathways with MAN2B1: view

Pathways by source for MAN2B1 Gene

2 KEGG pathways for MAN2B1 Gene

Interacting Proteins for MAN2B1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000395473%0d%0a9606.ENSP00000265028%0d%0a9606.ENSP00000370253%0d%0a9606.ENSP00000346437%0d%0a9606.ENSP00000381823%0d%0a9606.ENSP00000347005%0d%0a
Selected Interacting proteins: O00754-MA2B1_HUMAN ENSP00000395473 for MAN2B1 Gene via MINT STRING UniProtKB I2D

Gene Ontology (GO) - Biological Process for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006464 cellular protein modification process IDA 8910458
GO:0009313 oligosaccharide catabolic process TAS --
genes like me logo Genes that share ontologies with MAN2B1: view

No data available for SIGNOR curated interactions for MAN2B1 Gene

Drugs & Compounds for MAN2B1 Gene

Products:

  1. Drug

(2) Drugs for MAN2B1 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 81
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 0

(9) Additional Compounds for MAN2B1 Gene - From: HMDB, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
 3458-28-4
Water
  • Dihydrogen oxide
  • Steam
 7732-18-5
1-Deoxymannojirimycin hydrochloride
73465-43-7
castanospermine
79831-76-8
OGT 2115
853929-59-6

(5) Tocris Compounds for MAN2B1 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
OGT 2115 Antiangiogenic. Heparanase inhibitor 853929-59-6
genes like me logo Genes that share compounds with MAN2B1: view

Transcripts for MAN2B1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for MAN2B1 Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(96) Selected AceView cDNA sequences:
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAN2B1 Gene

Mannosidase, alpha, class 2B, member 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAN2B1 Gene

No ASD Table

Relevant External Links for MAN2B1 Gene

GeneLoc Exon Structure for
MAN2B1
ECgene alternative splicing isoforms for
MAN2B1

Expression for MAN2B1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for MAN2B1 Gene

mRNA expression in normal human tissues for MAN2B1 Gene
mRNA expression by BioGPS for MAN2B1 GenemRNA expression by GTEx for MAN2B1 Gene

mRNA differential expression in normal tissues according to GTEx for MAN2B1 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for MAN2B1 Gene

This gene is overexpressed in Lavage (8.7), Amniocyte (6.7), and Islet of Langerhans (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAN2B1 Gene



SOURCE GeneReport for Unigene cluster for MAN2B1 Gene Hs.356769

genes like me logo Genes that share expression patterns with MAN2B1: view

Protein tissue co-expression partners for MAN2B1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MAN2B1 Gene

Orthologs for MAN2B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAN2B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia MAN2B1 35
  • 83.05 (n)
  • 81.14 (a)
MANB 36
  • 81 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia MAN2B1 35
  • 84.72 (n)
  • 83.26 (a)
-- 36
  • 82 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Man2b1 35
  • 77.59 (n)
  • 77.32 (a)
Man2b1 16
Man2b1 36
  • 75 (a)
 OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia MAN2B1 35
  • 99.29 (n)
  • 98.93 (a)
MAN2B1 36
  • 99 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Man2b1 35
  • 77.66 (n)
  • 76.59 (a)
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 69 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 61 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia man2b1 35
  • 62.03 (n)
  • 60.86 (a)
zebrafish
(Danio rerio)
 Actinopterygii man2b1 35
  • 60.45 (n)
  • 60.77 (a)
man2b1 36
  • 57 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta BcDNA:GH02419 37
  • 45 (a)
CG5322 37
  • 42 (a)
CG9463 37
  • 38 (a)
CG9465 37
  • 40 (a)
CG9466 37
  • 39 (a)
CG9468 37
  • 39 (a)
LM408 35
  • 53.28 (n)
  • 48.25 (a)
CG5322 36
  • 42 (a)
 ManyToMany
CG6206 36
  • 42 (a)
 ManyToMany
CG9463 36
  • 39 (a)
 ManyToMany
CG9465 36
  • 40 (a)
 ManyToMany
CG9466 36
  • 40 (a)
 ManyToMany
CG9468 36
  • 39 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008584 35
  • 55.34 (n)
  • 49.23 (a)
worm
(Caenorhabditis elegans)
 Secernentea F55D10.1 37
  • 38 (a)
aman-1 35
  • 47.86 (n)
  • 40.74 (a)
aman-1 36
  • 38 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G13980 35
  • 48.52 (n)
  • 43.41 (a)
rice
(Oryza sativa)
 Liliopsida Os11g0525600 35
  • 48.94 (n)
  • 43.07 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 50 (a)
 OneToMany
Species with no ortholog for MAN2B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAN2B1 Gene

ENSEMBL:
Gene Tree for MAN2B1 (if available)
TreeFam:
Gene Tree for MAN2B1 (if available)

Paralogs for MAN2B1 Gene

Paralogs for MAN2B1 Gene

(1) SIMAP similar genes for MAN2B1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MAN2B1: view

Variants for MAN2B1 Gene

Sequence variations from dbSNP and Humsavar for MAN2B1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_003338 Mannosidosis, alpha B, lysosomal (MANSA)
rs1054486 - 12,663,394(-) AGCCG(C/G)TGGTG upstream-variant-2KB, reference, missense
rs1054487 - 12,661,351(-) CCACA(A/C/G/T)TGTGA reference, missense, utr-variant-5-prime
rs1133330 - 12,661,276(-) CATCC(A/G/T)GCTGG reference, missense, utr-variant-5-prime
VAR_003342 Mannosidosis, alpha B, lysosomal (MANSA)

Structural Variations from Database of Genomic Variants (DGV) for MAN2B1 Gene

Variant ID Type Subtype PubMed ID
nsv138389 CNV Loss 16902084
dgv3733n71 CNV Loss 21882294

Variation tolerance for MAN2B1 Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.86; 89.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAN2B1 Gene

Human Gene Mutation Database (HGMD)
MAN2B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN2B1 Gene

Disorders for MAN2B1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MAN2B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mannosidosis, alpha-, types i and ii
  • alpha-mannosidosis
alpha-mannosidosis, infantile form
  • lysosomal alpha-d-mannosidase deficiency, infantile form
alpha-mannosidosis, adult form
  • lysosomal alpha-d-mannosidase deficiency, adult form
mannosidosis
  • alpha-mannosidosis
mannosidosis, beta
  • beta-mannosidosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MA2B1_HUMAN
  • Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]: A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities. {ECO:0000269 PubMed:12718372, ECO:0000269 PubMed:15712269, ECO:0000269 PubMed:22161967, ECO:0000269 PubMed:9158146, ECO:0000269 PubMed:9758606, ECO:0000269 PubMed:9915946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MAN2B1 Gene

mannosidosis alpha,characterized by progressive mental retardation,hepatosplenomegaly,severe dysostosis multiplex and early death,milder forms in juvenile-adult

Relevant External Links for MAN2B1

Genetic Association Database (GAD)
MAN2B1
Human Genome Epidemiology (HuGE) Navigator
MAN2B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAN2B1
genes like me logo Genes that share disorders with MAN2B1: view

Publications for MAN2B1 Gene

  1. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). (PMID: 9192839) Riise H.M.F. … Ceccherini I. (Genomics 1997) 3 4 23 67
  2. Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties. (PMID: 19722277) Venkatesan M. … Rose D.R. (Protein Sci. 2009) 3 23
  3. Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. (PMID: 15712269) Sbaragli M. … Beccari T. (Hum. Mutat. 2005) 3 23
  4. Spectrum of mutations in alpha-mannosidosis. (PMID: 9915946) Berg T. … Nilssen O. (Am. J. Hum. Genet. 1999) 3 23
  5. Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. (PMID: 9758606) Gotoda Y. … Matsumoto T. (Am. J. Hum. Genet. 1998) 3 23

Products for MAN2B1 Gene

Sources for MAN2B1 Gene

Content