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, ... See more...

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
  • Beta-Mannosidase 3 4
  • EC 3.2.1.25 4 51
  • Mannanase 3 4
  • Mannase 3 4
  • MANB1 3 4
  • MANBA 5

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 Common Variable Immunodeficiency. Among its related pathways are Innate Immune System and Lysosome. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-mannosidase activity. An important paralog of this gene is GUSB.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MANBA Gene

Genomics for MANBA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MANBA Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MANBA

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

Genomic Locations for MANBA Gene

Latest Assembly
chr4:102,630,770-102,760,994
(GRCh38/hg38)
Size:
130,225 bases
Orientation:
Minus strand

Previous Assembly
chr4:103,551,927-103,682,125
(GRCh37/hg19 by Entrez Gene)
Size:
130,199 bases
Orientation:
Minus strand

chr4:103,552,660-103,682,151
(GRCh37/hg19 by Ensembl)
Size:
129,492 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:
    • Monomer.

neXtProt entry for MANBA Gene

Selected DME Specific Peptides for MANBA Gene

O00462:
  • DYVTLYVK
  • FFAPLLPVGFE
  • PFVWLDVGSIPGRFSDNGFLM
  • AKVYFRTV
  • SEYGYQSWPSFSTLEKVSS
  • MFACALYPT
  • KTETEFY

Post-translational modifications for MANBA Gene

  • Glycosylation at Asn28, Asn35, Asn77, Asn280, Asn284, Asn297, Asn302, and Asn763
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MANBA_HUMAN (1041)

Domains & Families for MANBA Gene

Gene Families for MANBA Gene

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

Suggested Antigen Peptide Sequences for MANBA Gene

GenScript: Design optimal peptide antigens:
  • Beta-mannosidase (A7LFP5_HUMAN)
  • Mannanase (MANBA_HUMAN)

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

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:
Reaction=Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.; EC=3.2.1.25; Evidence={ECO:0000305|PubMed:12890191, ECO:0000305|PubMed:16904924, ECO:0000305|PubMed:18565776, ECO:0000305|PubMed:30552791};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 4.5-5. {ECO:0000269|PubMed:30552791};
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:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004567 beta-mannosidase activity IEA,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:

miRNA for MANBA Gene

miRTarBase miRNAs that target MANBA

Inhibitory RNAs for research

  • 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

Lysosome.

Subcellular locations from

COMPARTMENTS
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 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 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,IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0035577 azurophil granule membrane TAS --
GO:0043202 lysosomal lumen TAS --
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.

Interacting Proteins for MANBA Gene

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,ISS --
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

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • 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: -
SP3:

Relevant External Links for MANBA Gene

GeneLoc Exon Structure for
MANBA

Expression for MANBA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MANBA

SOURCE GeneReport for Unigene cluster for MANBA Gene:

Hs.480415

mRNA Expression by UniProt/SwissProt for MANBA Gene:

O00462-MANBA_HUMAN
Tissue specificity: Ubiquitous. Detected in pancreas, kidney and placenta, ands at lower levels in liver, lung, brain, heart and muscle.

Evidence on tissue expression from TISSUES for MANBA Gene

  • Muscle(4.3)
  • Blood(2.4)
  • Nervous system(2.4)
  • Heart(2.2)
  • Intestine(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • skull
Abdomen:
  • abdominal wall
  • kidney
General:
  • 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 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 30 31
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MANBA 30 31
  • 85.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MANBA 30 31
  • 81.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Manba 30
  • 79.26 (n)
Mouse
(Mus musculus)
Mammalia Manba 30 17 31
  • 78.1 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MANBA 31
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MANBA 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MANBA 30 31
  • 71.6 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia manba 30
  • 63.04 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100331766 30
  • 59.45 (n)
manba 31 31
  • 53 (a)
OneToMany
zgc55493 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG12582 30 31 32
  • 46.64 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000143 30
  • 45.16 (n)
Worm
(Caenorhabditis elegans)
Secernentea C33G3.4 30 31 32
  • 46.75 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU00890 30
  • 43.19 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.393 30
Species where no ortholog for MANBA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for MANBA: view image

Paralogs for MANBA Gene

Paralogs for MANBA Gene

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

Variants for MANBA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MANBA Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
850663 Uncertain Significance: Beta-D-mannosidosis 102,671,394(-) G/A
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)
MISSENSE
854075 Uncertain Significance: Beta-D-mannosidosis 102,726,686(-) G/A
NM_005908.4(MANBA):c.178-3C>T
INTRON
859480 Uncertain Significance: Beta-D-mannosidosis 102,635,002(-) C/T
NM_005908.4(MANBA):c.2201G>A (p.Arg734His)
MISSENSE
871108 Likely Pathogenic: not provided 102,657,874(-) C/CTATT
NM_005908.4(MANBA):c.1511_1512insAATA (p.Ser505fs)
FRAMESHIFT
900242 Uncertain Significance: Intellectual disability; Beta-D-mannosidosis 102,632,284(-) G/A
NM_005908.4(MANBA):c.2416-3C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MANBA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
MANBA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MANBA

SNP Genotyping and Copy Number Assays for research

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: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mannosidosis, beta a, lysosomal
  • mansb
common variable immunodeficiency
  • acquired agammaglobulinemia
angiokeratoma
  • angiokeratoma of skin
lysosomal storage disease
  • disorder of lysosomal enzyme
mannosidosis, alpha b, lysosomal
  • mansa
- 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:12890191, ECO:0000269 PubMed:16904924, ECO:0000269 PubMed:18565776, ECO:0000269 PubMed:30552791, ECO:0000269 PubMed:9384606}. Note=The disease is caused by variants 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23 41
  2. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (PMID: 9384606) Alkhayat AH … Friderici KH (Human molecular genetics 1998) 3 4 74
  3. The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus. (PMID: 30552791) Gytz H … Nagar B (The FEBS journal 2019) 3 4
  4. 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 41
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41

Products for MANBA Gene

Sources for MANBA Gene