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Aliases for MAN2B2 Gene

Aliases for MAN2B2 Gene

  • Mannosidase Alpha Class 2B Member 2 2 3 4 5
  • EC 3.2.1.24 4 61
  • Core-Specific Lysosomal Alpha-1,6-Mannosidase 2
  • Mannosidase, Alpha, Class 2B, Member 2 2
  • KIAA0935 4

External Ids for MAN2B2 Gene

Previous GeneCards Identifiers for MAN2B2 Gene

  • GC04P006642
  • GC04P006694
  • GC04P006627
  • GC04P006509

Summaries for MAN2B2 Gene

GeneCards Summary for MAN2B2 Gene

MAN2B2 (Mannosidase Alpha Class 2B Member 2) is a Protein Coding gene. Among its related pathways are Lysosomal oligosaccharide catabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity. An important paralog of this gene is MAN2B1.

Tocris Summary for MAN2B2 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.

Gene Wiki entry for MAN2B2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN2B2 Gene

Genomics for MAN2B2 Gene

Regulatory Elements for MAN2B2 Gene

Enhancers for MAN2B2 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
GH04G006914 2.1 FANTOM5 Ensembl ENCODE dbSUPER 2.3 +341.5 341466 5.1 CREB3L1 MLX DMAP1 FEZF1 YY1 SLC30A9 ZNF143 NFYC GLIS1 RCOR2 KIAA0232 TBC1D14 BLOC1S4 GRPEL1 TADA2B MAN2B2 S100P GC04M006908 GC04P006943
GH04G006828 0.2 dbSUPER 5.1 +254.4 254407 1.8 KIAA0232 MAN2B2 GC04P006842
GH04G006574 1 ENCODE 0.7 +0.4 375 2.0 ARID4B SIN3A GLIS2 ELK1 ZNF143 SP3 SP5 MXD4 NFYC KAT8 MAN2B2 GC04P006620
GH04G006576 0.5 ENCODE 0.7 +1.6 1555 0.2 JUND NR3C1 HNF4A RBFOX2 MAN2B2 GC04P006620
GH04G006591 0.7 FANTOM5 0.4 +16.1 16110 0.1 TBP SMAD5 MNT ZIC2 NCOR1 POLR2A ZNF341 TRIM24 EGR2 PPP2R2C MRFAP1 LINC02482 LOC93622 MAN2B2 GC04P006620
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAN2B2 on UCSC Golden Path with GeneCards custom track

Promoters for MAN2B2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000165434 26 1201 ARID4B SIN3A GLIS2 ELK1 ZNF143 SP3 SP5 MXD4 NFYC KAT8

Genomic Location for MAN2B2 Gene

Chromosome:
4
Start:
6,575,174 bp from pter
End:
6,623,362 bp from pter
Size:
48,189 bases
Orientation:
Plus strand

Genomic View for MAN2B2 Gene

Genes around MAN2B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAN2B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAN2B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAN2B2 Gene

Proteins for MAN2B2 Gene

  • Protein details for MAN2B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2E5-MA2B2_HUMAN
    Recommended name:
    Epididymis-specific alpha-mannosidase
    Protein Accession:
    Q9Y2E5
    Secondary Accessions:
    • Q66MP2
    • Q86T67

    Protein attributes for MAN2B2 Gene

    Size:
    1009 amino acids
    Molecular mass:
    113979 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MAN2B2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAN2B2 Gene

Selected DME Specific Peptides for MAN2B2 Gene

Q9Y2E5:
  • HVLWPWGCD
  • VDPFGASATTPTL
  • DDQILQLTEGHGFLYETFGIRPQFSW
  • IRQYFYR
  • QLQQLRWAVSEVQHHD
  • PKEIRTFFI
  • FVVPHSHMDVGW
  • RRFIAVEQE

Post-translational modifications for MAN2B2 Gene

  • Glycosylation at Asn226, Asn249, Asn294, posLast=336336, Asn516, posLast=608608, posLast=670670, posLast=675675, Asn748, Asn808, Asn812, and Asn890
  • Modification sites at PhosphoSitePlus

Other Protein References for MAN2B2 Gene

Domains & Families for MAN2B2 Gene

Gene Families for MAN2B2 Gene

Suggested Antigen Peptide Sequences for MAN2B2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2E5

UniProtKB/Swiss-Prot:

MA2B2_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 MAN2B2: view

Function for MAN2B2 Gene

Molecular function for MAN2B2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.

Enzyme Numbers (IUBMB) for MAN2B2 Gene

Gene Ontology (GO) - Molecular Function for MAN2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004559 alpha-mannosidase activity IEA,IBA --
GO:0008270 zinc ion binding IEA --
GO:0008496 mannan endo-1,6-alpha-mannosidase activity TAS --
GO:0015923 mannosidase activity IEA --
genes like me logo Genes that share ontologies with MAN2B2: view
genes like me logo Genes that share phenotypes with MAN2B2: view

Animal Models for MAN2B2 Gene

MGI Knock Outs for MAN2B2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAN2B2 Gene

Localization for MAN2B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN2B2 Gene

Secreted.

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 MAN2B2 gene
Compartment Confidence
extracellular 5
lysosome 5
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MAN2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with MAN2B2: view

Pathways & Interactions for MAN2B2 Gene

genes like me logo Genes that share pathways with MAN2B2: view

Pathways by source for MAN2B2 Gene

1 KEGG pathway for MAN2B2 Gene

Gene Ontology (GO) - Biological Process for MAN2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006013 mannose metabolic process IBA,IEA --
GO:0006517 protein deglycosylation IBA --
GO:0008152 metabolic process IEA --
GO:0009313 oligosaccharide catabolic process TAS --
genes like me logo Genes that share ontologies with MAN2B2: view

No data available for SIGNOR curated interactions for MAN2B2 Gene

Drugs & Compounds for MAN2B2 Gene

(5) Drugs for MAN2B2 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 85
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 26
Kifunensine Experimental Pharma Inhibitor of class I alpha-mannosidases 0
Swainsonine Experimental Pharma Inhibitor of alpha-mannosidase II 0

(2) Additional Compounds for MAN2B2 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
Miglustat hydrochloride
210110-90-0

(5) Tocris Compounds for MAN2B2 Gene

Compound Action Cas Number
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Kifunensine Inhibitor of class I alpha-mannosidases 109944-15-2
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
Swainsonine Inhibitor of alpha-mannosidase II 72741-87-8
genes like me logo Genes that share compounds with MAN2B2: view

Transcripts for MAN2B2 Gene

Unigene Clusters for MAN2B2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAN2B2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20
SP1: - -
SP2:
SP3:

Relevant External Links for MAN2B2 Gene

GeneLoc Exon Structure for
MAN2B2
ECgene alternative splicing isoforms for
MAN2B2

Expression for MAN2B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAN2B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAN2B2 Gene

This gene is overexpressed in Bone marrow stromal cell (10.8), Skin (10.7), Pancreas (9.9), and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAN2B2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MAN2B2 Gene:

MAN2B2

SOURCE GeneReport for Unigene cluster for MAN2B2 Gene:

Hs.188464

Evidence on tissue expression from TISSUES for MAN2B2 Gene

  • Nervous system(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with MAN2B2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAN2B2 Gene

Orthologs for MAN2B2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAN2B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAN2B2 34
  • 92.5 (n)
rat
(Rattus norvegicus)
Mammalia Man2b2 34
  • 79.76 (n)
dog
(Canis familiaris)
Mammalia MAN2B2 34
  • 79.05 (n)
-- 35
  • 68 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Man2b2 34 16 35
  • 79.03 (n)
cow
(Bos Taurus)
Mammalia LOC532207 34
  • 75.47 (n)
-- 35
  • 66 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
-- 35
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MAN2B2 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAN2B2 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN2B2 34 35
  • 65.82 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia man2b2 34
  • 62.11 (n)
zebrafish
(Danio rerio)
Actinopterygii man2b2 34
  • 61.24 (n)
MAN2B2 35
  • 58 (a)
OneToOne
Dr.2357 34
fruit fly
(Drosophila melanogaster)
Insecta alpha-Man-IIb 35
  • 18 (a)
ManyToMany
Species where no ortholog for MAN2B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MAN2B2 Gene

ENSEMBL:
Gene Tree for MAN2B2 (if available)
TreeFam:
Gene Tree for MAN2B2 (if available)

Paralogs for MAN2B2 Gene

Paralogs for MAN2B2 Gene

(1) SIMAP similar genes for MAN2B2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MAN2B2: view

Variants for MAN2B2 Gene

Sequence variations from dbSNP and Humsavar for MAN2B2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10000264 -- 6,605,444(+) TGGTG(A/G)TGAAA intron-variant
rs1000079264 -- 6,621,623(+) AGCAG(A/C)ACCGA nc-transcript-variant, utr-variant-3-prime
rs1000138745 -- 6,612,848(+) GAGAG(C/T)GTATG intron-variant
rs1000247550 -- 6,593,054(+) AATTC(A/T)GTCTC intron-variant
rs1000377278 -- 6,604,168(+) CTGGA(A/G)CCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAN2B2 Gene

Variant ID Type Subtype PubMed ID
esv2657120 CNV deletion 23128226
esv2727004 CNV deletion 23290073
esv2759220 CNV loss 17122850
esv34196 OTHER inversion 12058347
esv3569271 CNV loss 25503493
esv3599506 CNV loss 21293372
nsv1007724 CNV gain 25217958
nsv10440 CNV loss 18304495
nsv10441 CNV loss 18304495
nsv4215 CNV deletion 18451855
nsv461189 CNV loss 19166990
nsv470006 CNV loss 18288195
nsv526206 CNV gain 19592680
nsv593502 CNV loss 21841781
nsv829849 CNV loss 17160897
nsv949778 CNV deletion 24416366

Variation tolerance for MAN2B2 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.02; 95.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAN2B2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN2B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN2B2 Gene

Disorders for MAN2B2 Gene

Relevant External Links for MAN2B2

Genetic Association Database (GAD)
MAN2B2
Human Genome Epidemiology (HuGE) Navigator
MAN2B2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAN2B2

No disorders were found for MAN2B2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAN2B2 Gene

Publications for MAN2B2 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  4. Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties. (PMID: 19722277) Venkatesan M. … Rose D.R. (Protein Sci. 2009) 3 22 64
  5. Characterization of a human core-specific lysosomal {alpha}1,6-mannosidase involved in N-glycan catabolism. (PMID: 16115860) Park C. … Moremen K.W. (J. Biol. Chem. 2005) 2 3 64

Products for MAN2B2 Gene

Sources for MAN2B2 Gene

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