Aliases for MAN2B2 Gene

Aliases for MAN2B2 Gene

  • Mannosidase Alpha Class 2B Member 2 2 3 4 5
  • Core-Specific Lysosomal Alpha-1,6-Mannosidase 2 3
  • Epididymis-Specific Alpha-Mannosidase 3 4
  • Alpha-1,6-Mannosidase 3 4
  • EC 3.2.1.24 4 50
  • KIAA0935 2 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Mannosidase, Alpha, Class 2B, Member 2 2
  • MAN2B2 5

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. Diseases associated with MAN2B2 include Mannosidosis, Alpha B, Lysosomal. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (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 Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAN2B2 Gene

Genomics for MAN2B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAN2B2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J006574 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.4 413 2.4 MYC ZNF600 IKZF1 POLR2A ZIC2 CTCF SMAD5 SIN3A ETS1 ZEB1 MAN2B2 piR-48759-220 MRFAP1
GH04J006914 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.3 +341.5 341450 5.1 NCOR1 MYC IKZF1 ZNF600 JUND ZNF580 ZNF592 CEBPA ZNF10 ZIC2 KIAA0232 TBC1D14 GRPEL1 TADA2B MAN2B2 S100P HSALNG0032664 piR-57133-443
GH04J006607 Enhancer 0.4 Ensembl 5.3 +32.7 32712 0.6 ZNF146 ZMYM3 ZNF24 piR-48759-220 MRFAP1 MAN2B2 HSALNG0032629
GH04J006828 Enhancer 0.2 dbSUPER 5.1 +254.4 254391 1.8 KIAA0232 MAN2B2 piR-31432-500 piR-31534-504 lnc-KIAA0232-2 TBC1D14
GH04J006563 Promoter/Enhancer 1.3 EPDnew FANTOM5 Ensembl 0.4 -11.4 -11360 1.7 EZH2 ZNF600 KLF7 ZNF384 ZSCAN29 ZNF398 ZBTB8A ZNF777 ZFHX2 KLF17 PPP2R2C TBC1D14 JAKMIP1 LOC105374365 MAN2B2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAN2B2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAN2B2

Top Transcription factor binding sites by QIAGEN in the MAN2B2 gene promoter:
  • AML1a
  • AP-4
  • ATF6
  • Bach2
  • E47
  • Elk-1
  • Hand1
  • HTF
  • NCX

Genomic Locations for MAN2B2 Gene

Latest Assembly
chr4:6,575,189-6,623,362
(GRCh38/hg38)
Size:
48,174 bases
Orientation:
Plus strand

Previous Assembly
chr4:6,576,916-6,625,089
(GRCh37/hg19 by Entrez Gene)
Size:
48,174 bases
Orientation:
Plus strand

chr4:6,576,902-6,625,089
(GRCh37/hg19 by Ensembl)
Size:
48,188 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, Asn336, Asn516, Asn608, Asn670, Asn675, Asn748, Asn808, Asn812, and Asn890
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MA2B2_HUMAN (1216)

Other Protein References for MAN2B2 Gene

Domains & Families for MAN2B2 Gene

Gene Families for MAN2B2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MAN2B2 Gene

GenScript: Design optimal peptide antigens:
  • Mannosidase alpha class 2B member 2 (MA2B2_HUMAN)
  • MAN2B2 protein (Q05BN7_HUMAN)
  • Mannosidase, alpha, class 2B, member 2 (Q4VC00_HUMAN)

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:
Reaction=Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.; EC=3.2.1.24;.

Enzyme Numbers (IUBMB) for MAN2B2 Gene

Phenotypes From GWAS Catalog for MAN2B2 Gene

Gene Ontology (GO) - Molecular Function for MAN2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004559 alpha-mannosidase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 32296183
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds 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:
  • Man2b2 Man2b2<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN2B2

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 4
lysosome 4
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for MAN2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005764 lysosome IBA 21873635
GO:0005774 vacuolar membrane IBA 21873635
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with MAN2B2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAN2B2 Gene

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 IEA --
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

(6) 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) 102
Castanospermine Experimental Pharma Glucosidases alpha and beta inhibitor 0
mannose Investigational Pharma 0
1-Deoxynojirimycin Investigational Pharma Glucosidase I and II inhibitor 12

(1) Additional Compounds for MAN2B2 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Miglustat hydrochloride
210110-90-0

(5) Tocris Compounds for MAN2B2 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
genes like me logo Genes that share compounds with MAN2B2: view

Transcripts for MAN2B2 Gene

mRNA/cDNA for MAN2B2 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
5 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 MAN2B2

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

Expression for MAN2B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MAN2B2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAN2B2

SOURCE GeneReport for Unigene cluster for MAN2B2 Gene:

Hs.188464

Evidence on tissue expression from TISSUES for MAN2B2 Gene

  • Nervous system(4.5)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with MAN2B2: view

Primer products for research

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 29
  • 92.5 (n)
Rat
(Rattus norvegicus)
Mammalia Man2b2 29
  • 79.76 (n)
Dog
(Canis familiaris)
Mammalia MAN2B2 29
  • 79.05 (n)
-- 30
  • 68 (a)
OneToMany
-- 30
  • 68 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Man2b2 29 16 30
  • 79.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC532207 29
  • 75.47 (n)
-- 30
  • 66 (a)
OneToMany
-- 30
  • 66 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
-- 30
  • 49 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia MAN2B2 30
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MAN2B2 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MAN2B2 29 30
  • 65.82 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia man2b2 29
  • 62.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii man2b2 29
  • 61.24 (n)
MAN2B2 30
  • 58 (a)
OneToOne
Dr.2357 29
Fruit Fly
(Drosophila melanogaster)
Insecta alpha-Man-IIb 30
  • 18 (a)
ManyToMany
Species where no ortholog for MAN2B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MAN2B2: view image
Alliance of Genome Resources:
Additional Orthologs for MAN2B2

Paralogs for MAN2B2 Gene

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

  • MA2B2_HUMAN
  • E9PCD7_HUMAN
  • H0YA68_HUMAN
  • Q05BN7_HUMAN
  • Q4VC00_HUMAN
genes like me logo Genes that share paralogs with MAN2B2: view

Variants for MAN2B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAN2B2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs2301788 -- p.Asn541Ser
rs2301790 -- p.Met446Val
rs2301795 -- p.Val320Met
rs2301796 -- p.Gln243Pro
rs6858328 -- p.Arg365Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAN2B2 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 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)

Additional Variant Information for MAN2B2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN2B2
Leiden Open Variation Database (LOVD)
MAN2B2

SNP Genotyping and Copy Number Assays for research

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

Disorders for MAN2B2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAN2B2 Gene - From: COP

Disorder Aliases PubMed IDs
mannosidosis, alpha b, lysosomal
  • mansa
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAN2B2

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 MAN2B2: view

No data available for 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 40
  4. Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties. (PMID: 19722277) Venkatesan M … Rose DR (Protein science : a publication of the Protein Society 2009) 3 22
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4

Products for MAN2B2 Gene

Sources for MAN2B2 Gene