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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
  • Mannanase 3 4
  • Mannase 3 4
  • MANB1 3 4
  • Beta-Mannosidase 3
  • EC 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 A, Lysosomal and Mannosidosis. Among its related pathways are Metabolism and Other glycan degradation. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for MANBA Gene

Promoters and enhancers for MANBA Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J102823 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 687.4 -65.7 -65681 7.1 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 UBE2D3 MANBA CISD2 LOC105377348 NFKB1 LOC100419096 ACTR3BP4 DDX3P3 SLC9B1 BDH2
GH04J102759 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 683.5 +0.4 405 2.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF143 MANBA NFKB1 LOC100419096
GH04J102866 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.6 -108.4 -108400 6 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC CISD2 UBE2D3 MANBA NFKB1 BDH2 PABPC1P7
GH04J102733 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 29.4 +26.3 26321 2.3 SOX13 FOXA2 MAX FEZF1 IRF4 FOSL1 RERE FOS RUNX3 CREM GC04P102735 LOC100288914 MANBA NFKB1 SLC39A8 SLC9B2 UBE2D3 SLC9B1 PIR57038
GH04J102683 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 27.1 +76.3 76348 2.2 ATF1 PKNOX1 BATF TCF12 ATF7 FOS IKZF2 RUNX3 CREM ZEB2 NFKB1 MANBA SLC39A8 UBE2D3 BDH2 SLC9B1 GC04P102663 GC04M102729
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MANBA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MANBA gene promoter:
  • Pax-6
  • Nkx2-2
  • SEF-1 (1)
  • POU3F2
  • Sp1
  • Nkx6-1
  • Ik-2
  • Cart-1
  • p53
  • LHX3b

Genomic Locations for MANBA Gene

Genomic Locations for MANBA Gene
130,225 bases
Minus strand
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

Post-translational modifications for MANBA Gene

  • Glycosylation at posLast=763763, posLast=302302, isoforms=297, posLast=284284, isoforms=280, isoforms=77, isoforms=35, and isoforms=28
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides 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

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

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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


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 IBA,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:0006516 glycoprotein catabolic process IBA --
GO:0008152 metabolic process IEA --
GO:0009313 oligosaccharide catabolic process 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

mRNA/cDNA for MANBA Gene

Unigene Clusters for MANBA Gene

Mannosidase, beta A, lysosomal:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MANBA

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, 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 34 33
  • 99.36 (n)
(Canis familiaris)
Mammalia MANBA 34 33
  • 85.41 (n)
(Bos Taurus)
Mammalia MANBA 34 33
  • 81.65 (n)
(Rattus norvegicus)
Mammalia Manba 33
  • 79.26 (n)
(Mus musculus)
Mammalia Manba 16 34 33
  • 78.1 (n)
(Ornithorhynchus anatinus)
Mammalia MANBA 34
  • 77 (a)
(Monodelphis domestica)
Mammalia MANBA 34
  • 72 (a)
(Gallus gallus)
Aves MANBA 34 33
  • 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 34 35 33
  • 46.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000143 33
  • 45.16 (n)
(Caenorhabditis elegans)
Secernentea C33G3.4 34 35 33
  • 46.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
Cin.393 33
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)
Evolutionary constrained regions (ECRs) for MANBA: view image

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 Variation AA Info Type
rs1054029 benign, Beta-D-mannosidosis 102,631,896(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1054037 benign, Beta-D-mannosidosis 102,631,552(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs113584126 uncertain-significance, Beta-D-mannosidosis 102,726,691(-) T/C genic_upstream_transcript_variant, intron_variant
rs116340501 likely-benign, Beta-D-mannosidosis 102,634,852(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121434334 pathogenic, Beta-D-mannosidosis 102,657,873(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

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

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)

Additional Variant Information for MANBA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MANBA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mannosidosis, beta a, lysosomal
  • mansb
  • alpha-mannosidosis
gastric dilatation
  • stomach dilatation
  • angiokeratoma of skin
mucopolysaccharidosis, type vii
  • mps7
- 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

Additional Disease Information for MANBA

Genetic Association Database
Human Genome Epidemiology 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 44 58
  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 44 58
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  4. 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 44 58
  5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58

Products for MANBA Gene

Sources for MANBA Gene

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