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Aliases for MANBA Gene

Aliases for MANBA Gene

  • Mannosidase Beta 2 3
  • Mannosidase, Beta A, Lysosomal 2 3 5
  • Lysosomal Beta A Mannosidase 3 4
  • Beta-Mannosidase A 2 3
  • EC 3.2.1.25 4 63
  • Mannanase 3 4
  • Mannase 3 4
  • MANB1 3 4

External Ids for MANBA Gene

Previous GeneCards Identifiers for MANBA Gene

  • GC04M103951
  • GC04M104011
  • GC04M103909
  • GC04M103771
  • GC04M103552
  • GC04M099288

Summaries for MANBA Gene

Entrez Gene Summary for MANBA Gene

  • 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]

GeneCards Summary for MANBA Gene

MANBA (Mannosidase Beta) is a Protein Coding gene. Diseases associated with MANBA include mannosidosis, beta and mannosidosis. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-mannosidase activity.

UniProtKB/Swiss-Prot for MANBA Gene

  • Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.

Gene Wiki entry for MANBA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MANBA Gene

Genomics for MANBA Gene

Regulatory Elements for MANBA Gene

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

ENSRs around MANBA on UCSC Golden Path with GeneCards custom track

Genomic Location for MANBA Gene

Chromosome:
4
Start:
102,631,486 bp from pter
End:
102,760,994 bp from pter
Size:
129,509 bases
Orientation:
Minus strand

Genomic View for MANBA Gene

Genes around MANBA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MANBA Gene

Proteins for MANBA Gene

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

    Protein Symbol:
    O00462-MANBA_HUMAN
    Recommended name:
    Beta-mannosidase
    Protein Accession:
    O00462
    Secondary Accessions:
    • Q96BC3
    • Q9NYX9

    Protein attributes for MANBA Gene

    Size:
    879 amino acids
    Molecular mass:
    100895 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MANBA Gene

Proteomics data for MANBA Gene at MOPED

Post-translational modifications for MANBA Gene

  • Glycosylation at Asn 28, Asn 35, Asn 77, Asn 280, Asn 284, Asn 297, Asn 302, and Asn 763
  • Modification sites at PhosphoSitePlus

Other Protein References for MANBA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for MANBA Gene

Gene Families for MANBA Gene

Suggested Antigen Peptide Sequences for MANBA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00462

UniProtKB/Swiss-Prot:

MANBA_HUMAN :
  • Belongs to the glycosyl hydrolase 2 family.
Family:
  • Belongs to the glycosyl hydrolase 2 family.
genes like me logo Genes that share domains with MANBA: view

Function for MANBA Gene

Molecular function for MANBA Gene

GENATLAS Biochemistry:
mannosidase beta A isoform,100kDa,lysosomal,expressed in pancreas,kidney,placenta
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.
UniProtKB/Swiss-Prot Function:
Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.

Enzyme Numbers (IUBMB) for MANBA Gene

Gene Ontology (GO) - Molecular Function for MANBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004567 beta-mannosidase activity IEA,TAS --
genes like me logo Genes that share ontologies with MANBA: view
genes like me logo Genes that share phenotypes with MANBA: view

Human Phenotype Ontology for MANBA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MANBA Gene

MGI Knock Outs for MANBA:

Animal Model Products

miRNA for MANBA Gene

miRTarBase miRNAs that target MANBA

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

Localization for MANBA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MANBA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MANBA Gene COMPARTMENTS Subcellular localization image for MANBA gene
Compartment Confidence
lysosome 5
vacuole 5
extracellular 3
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MANBA Gene

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

Pathways & Interactions for MANBA Gene

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

Pathways by source for MANBA Gene

2 KEGG pathways for MANBA Gene

UniProtKB/Swiss-Prot O00462-MANBA_HUMAN

  • Pathway: Glycan metabolism; N-glycan degradation.

Interacting Proteins for MANBA Gene

Gene Ontology (GO) - Biological Process for MANBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process NAS 9384606
genes like me logo Genes that share ontologies with MANBA: view

No data available for SIGNOR curated interactions for MANBA Gene

Drugs & Compounds for MANBA Gene

(4) Additional Compounds for MANBA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MANBA: view

Transcripts for MANBA Gene

Unigene Clusters for MANBA Gene

Mannosidase, beta A, lysosomal:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c
SP1: - -
SP2: -
SP3:

Relevant External Links for MANBA Gene

GeneLoc Exon Structure for
MANBA
ECgene alternative splicing isoforms for
MANBA

Expression for MANBA Gene

mRNA expression in normal human tissues for MANBA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MANBA Gene

This gene is overexpressed in Vitreous humor (13.2), Amniocyte (8.7), and Testis (6.4).

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



SOURCE GeneReport for Unigene cluster for MANBA Gene Hs.480415

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

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MANBA Gene

Orthologs for MANBA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MANBA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MANBA 36
  • 99 (a)
OneToOne
MANBA 35
  • 99.36 (n)
  • 99.32 (a)
cow
(Bos Taurus)
Mammalia MANBA 35
  • 81.65 (n)
  • 75.63 (a)
MANBA 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MANBA 36
  • 80 (a)
OneToOne
MANBA 35
  • 85.41 (n)
  • 80.99 (a)
mouse
(Mus musculus)
Mammalia Manba 35
  • 78.1 (n)
  • 75.75 (a)
Manba 16
Manba 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MANBA 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MANBA 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Manba 35
  • 79.26 (n)
  • 75.35 (a)
chicken
(Gallus gallus)
Aves MANBA 35
  • 71.6 (n)
  • 70.14 (a)
MANBA 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia manba 35
  • 63.04 (n)
  • 59.88 (a)
zebrafish
(Danio rerio)
Actinopterygii manba 36
  • 53 (a)
OneToMany
manba 36
  • 53 (a)
OneToMany
LOC100331766 35
  • 59.45 (n)
  • 55.97 (a)
zgc55493 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000143 35
  • 45.16 (n)
  • 37.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12582 36
  • 34 (a)
OneToOne
CG12582 37
  • 38 (a)
CG12582 35
  • 46.64 (n)
  • 39.07 (a)
worm
(Caenorhabditis elegans)
Secernentea C33G3.4 35
  • 46.75 (n)
  • 36.3 (a)
C33G3.4 37
  • 33 (a)
C33G3.4 36
  • 32 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00890 35
  • 43.19 (n)
  • 32.54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.393 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for MANBA:
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MANBA Gene

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

Paralogs for MANBA Gene

No data available for Paralogs for MANBA Gene

Variants for MANBA Gene

Sequence variations from dbSNP and Humsavar for MANBA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs227368 -, - 102,690,688(-) TGATC(A/C/G/T)TAGCC reference, missense, utr-variant-5-prime
rs2866413 - 102,635,920(+) AGAAC(A/C/G)TGTTT reference, missense
rs4013 -- 102,631,656(+) TATTC(C/T)GTATT utr-variant-3-prime
rs4019 -- 102,631,673(+) AGCTA(A/G)CTGTG utr-variant-3-prime
rs227275 -- 102,672,741(-) aatag(G/T)gttcc intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv830020 CNV Loss 17160897
nsv822674 CNV Gain 20364138
dgv889n67 CNV Gain 20364138
nsv4444 CNV Insertion 18451855

Variation tolerance for MANBA Gene

Residual Variation Intolerance Score: 52.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.56; 77.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MANBA Gene

HapMap Linkage Disequilibrium report
MANBA
Human Gene Mutation Database (HGMD)
MANBA

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

Disorders for MANBA Gene

MalaCards: The human disease database

(15) MalaCards diseases for MANBA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mannosidosis, beta
  • beta-mannosidosis
mannosidosis
  • alpha-mannosidosis
angiokeratoma
  • angiokeratoma of skin
retinitis pigmentosa 73
  • rp73
gastric dilatation
  • stomach dilatation
- elite association - COSMIC cancer census association via MalaCards
Search MANBA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MANBA_HUMAN
  • Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510]: An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes. {ECO:0000269 PubMed:9384606}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MANBA Gene

mannosidosis beta,characterized by a range of neurological involvement with mental retardation,angiokeratoma,facial dysmorphism,skeletal abnormalities

Relevant External Links for MANBA

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

Publications for MANBA Gene

  1. MANBA polymorphism was related to increased risk of colorectal cancer in Swedish but not in Chinese populations. (PMID: 17899454) Gao J. … Sun X.F. (Acta Oncol 2008) 3 23 48 67
  2. A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. (PMID: 19728872) Sabourdy F. … Levade T. (BMC Med. Genet. 2009) 3 23
  3. Molecular cloning and characterization of bovine beta-mannosidase. (PMID: 7876128) Chen H. … Friderici K.H. (J. Biol. Chem. 1995) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PMID: 22268729) Liu B. … Wang L.S. (J. Proteome Res. 2012) 3

Products for MANBA Gene

Sources for MANBA Gene

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