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Aliases for MANBA Gene

Aliases for MANBA Gene

  • Mannosidase Beta 2 3 5
  • Mannosidase, Beta A, Lysosomal 2 3
  • Lysosomal Beta A Mannosidase 3 4
  • Beta-Mannosidase A 2 3
  • EC 4 58
  • Mannanase 3 4
  • Mannase 3 4
  • MANB1 3 4
  • Beta-Mannosidase 3

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

Additional gene information for MANBA Gene

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

Genomics for MANBA Gene

Regulatory Elements for MANBA Gene

Enhancers for MANBA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H102823 1.8 FANTOM5 ENCODE dbSUPER 28.7 -65.7 -65681 7.1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC ZC3H11A PPARGC1A ZFP41 NFKB1 CISD2 UBE2D3 MANBA LOC100419096 ACTR3BP4 DDX3P3 SLC9B1 BDH2 LRRC37A15P
GH04H102733 1.6 FANTOM5 Ensembl ENCODE dbSUPER 29.4 +26.3 26321 2.3 SOX13 FOXA2 MAX FEZF1 FOSL1 RERE FOS RUNX3 CREM NR2F1 MANBA NFKB1 SLC39A8 SLC9B2 UBE2D3 SLC9B1 GC04P102735 PIR57038
GH04H102683 1.7 FANTOM5 Ensembl ENCODE dbSUPER 27.1 +76.3 76348 2.2 PKNOX1 ATF1 BATF TCF12 FOS ATF7 RUNX3 CREM IKZF2 ZEB2 NFKB1 MANBA SLC39A8 UBE2D3 BDH2 SLC9B1 GC04P102663 GC04M102729
GH04H102686 1.7 FANTOM5 Ensembl ENCODE dbSUPER 25.7 +73.1 73064 1.9 HDGF JUN ZSCAN4 MAX YBX1 ZBTB40 BATF RELA ZKSCAN1 FOSL1 NFKB1 MANBA SLC39A8 UBE2D3 SLC9B1 GC04P102663 GC04M102729
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MANBA on UCSC Golden Path with GeneCards custom track

Promoters for MANBA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000171351 394 2401 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 GLIS2 ZNF143 ZNF548

Genomic Locations for MANBA Gene

Genomic Locations for MANBA Gene
129,509 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q96BC3
    • Q9NYX9

    Protein attributes for MANBA Gene

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

neXtProt entry for MANBA Gene

Selected DME Specific Peptides for MANBA Gene


Post-translational modifications for MANBA Gene

  • Glycosylation at posLast=2828, Asn35, Asn77, posLast=280280, posLast=284284, posLast=297297, Asn302, and posLast=763763
  • Modification sites at PhosphoSitePlus

Other Protein References for MANBA Gene

Domains & Families for MANBA Gene

Gene Families for MANBA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MANBA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 2 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

Phenotypes From GWAS Catalog for MANBA Gene

Gene Ontology (GO) - Molecular Function for MANBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004567 beta-mannosidase activity TAS --
GO:0005537 mannose binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
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

CRISPR Products

miRNA for MANBA Gene

miRTarBase miRNAs that target MANBA

Inhibitory RNA Products

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


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MANBA gene
Compartment Confidence
lysosome 5
plasma membrane 4
extracellular 3
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MANBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005886 plasma membrane TAS --
GO:0035577 azurophil granule membrane TAS --
GO:0043202 lysosomal lumen TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
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

UniProtKB/Swiss-Prot O00462-MANBA_HUMAN

  • Pathway: Glycan metabolism; N-glycan degradation.

Gene Ontology (GO) - Biological Process for MANBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006464 cellular protein modification process NAS 9384606
GO:0008152 metabolic process IEA --
GO:0009313 oligosaccharide catabolic process TAS --
GO:0043312 neutrophil degranulation TAS --
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

(1) Drugs for MANBA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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:

CRISPR Products

Inhibitory RNA Products

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: -

Relevant External Links for MANBA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MANBA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MANBA Gene

NURSA nuclear receptor signaling pathways regulating expression of MANBA Gene:


SOURCE GeneReport for Unigene cluster for MANBA Gene:


Evidence on tissue expression from TISSUES for MANBA Gene

  • Muscle(4.2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MANBA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • skull
  • abdominal wall
  • kidney
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with MANBA: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia MANBA 33 34
  • 99.36 (n)
(Canis familiaris)
Mammalia MANBA 33 34
  • 85.41 (n)
(Bos Taurus)
Mammalia MANBA 33 34
  • 81.65 (n)
(Rattus norvegicus)
Mammalia Manba 33
  • 79.26 (n)
(Mus musculus)
Mammalia Manba 33 16 34
  • 78.1 (n)
(Ornithorhynchus anatinus)
Mammalia MANBA 34
  • 77 (a)
(Monodelphis domestica)
Mammalia MANBA 34
  • 72 (a)
(Gallus gallus)
Aves MANBA 33 34
  • 71.6 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia manba 33
  • 63.04 (n)
(Danio rerio)
Actinopterygii LOC100331766 33
  • 59.45 (n)
manba 34 34
  • 53 (a)
zgc55493 33
fruit fly
(Drosophila melanogaster)
Insecta CG12582 35 33 34
  • 46.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000143 33
  • 45.16 (n)
(Caenorhabditis elegans)
Secernentea C33G3.4 35 33 34
  • 46.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00890 33
  • 43.19 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.393 33
Species where no ortholog for MANBA was found in the sources mined by GeneCards:
  • 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

Gene Tree for MANBA (if available)
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
rs121434334 Pathogenic 102,657,873(-) TTACG(C/T)CCAGT nc-transcript-variant, reference, missense
rs121434335 Pathogenic 102,726,614(-) GCAAA(A/G/T)AATTT nc-transcript-variant, reference, missense, stop-gained, utr-variant-5-prime
rs121434336 Pathogenic 102,669,004(-) CTGAT(C/G/T)AGGGC nc-transcript-variant, upstream-variant-2KB, reference, missense, stop-gained
rs116340501 Likely benign 102,634,852(+) TGGTC(A/C/G)GGCTC nc-transcript-variant, reference, missense
rs142248415 Likely benign 102,634,957(+) CATAA(A/T)GGCAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv980235 CNV duplication 23825009
nsv966303 CNV duplication 23825009
nsv830020 CNV loss 17160897
nsv822674 CNV gain 20364138
nsv4444 CNV insertion 18451855
nsv1013963 CNV gain 25217958
nsv1003618 CNV gain 25217958
esv3893999 CNV loss 25118596
esv3601620 CNV loss 21293372
esv3340226 CNV insertion 20981092
dgv889n67 CNV gain 20364138

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for MANBA Gene

MalaCards: The human disease database

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

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


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 XF (Acta oncologica (Stockholm, Sweden) 2008) 3 22 45 60
  2. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) International Multiple Sclerosis Genetics Consortium … Compston A (Nature 2011) 3 45 60
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 45 60
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 45 60
  5. A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. (PMID: 19728872) Sabourdy F … Levade T (BMC medical genetics 2009) 3 22 60

Products for MANBA Gene

Sources for MANBA Gene

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