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MAN2B1 Gene(Protein Coding)

Mannosidase Alpha Class 2B Member 1

GCID:
GC19M012649
GIFtS:
55
Genes Participants
UDN Logo

Aliases for MAN2B1 Gene

Aliases for MAN2B1 Gene

  • Mannosidase Alpha Class 2B Member 1 2 3 4 5
  • Lysosomal Acid Alpha-Mannosidase 3 4
  • Mannosidase Alpha-B 3 4
  • EC 3.2.1.24 4 56
  • LAMAN 3 4
  • MANB 3 4
  • Mannosidase, Alpha, Class 2B, Member 1 2
  • Mannosidase, Alpha B, Lysosomal 3
  • Lysosomal Alpha-Mannosidase 3
  • EC 3.2.1 56

External Ids for MAN2B1 Gene

Previous HGNC Symbols for MAN2B1 Gene

  • MANB

Previous GeneCards Identifiers for MAN2B1 Gene

  • GC19M012888
  • GC19M012980
  • GC19M012602
  • GC19M012618
  • GC19M012757
  • GC19M012330

Summaries for MAN2B1 Gene

Entrez Gene Summary for MAN2B1 Gene

  • This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

GeneCards Summary for MAN2B1 Gene

MAN2B1 (Mannosidase Alpha Class 2B Member 1) is a Protein Coding gene. Diseases associated with MAN2B1 include Mannosidosis, Alpha B, Lysosomal and Alpha-Mannosidosis, Infantile Form. Among its related pathways are Glycosaminoglycan metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and alpha-mannosidase activity. An important paralog of this gene is MAN2B2.

UniProtKB/Swiss-Prot for MAN2B1 Gene

  • Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.

Tocris Summary for MAN2B1 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.

Additional gene information for MAN2B1 Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN2B1 Gene

Genomics for MAN2B1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MAN2B1 Gene

Promoters and enhancers for MAN2B1 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
GH19I012664 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.9 -886 6.6 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000269590 MAN2B1 WDR83 GC19M012663 WDR83OS ZNF490 ZNF20 ZNF44 ZNF136 ZNF700
GH19I012781 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 30.1 -122.5 -122521 16 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 JUNB CCDC130 ZNF136 ZNF44 ZNF791 ZNF564 WDR83OS TRMT1 ZNF700 TRIR
GH19I013148 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.4 -486.9 -486918 10.2 MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 STX10 ENSG00000267598 IER2 CCDC130 ZNF136 ZNF44 TRMT1 ZNF709 ZNF564 ZNF791
GH19I012918 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 20 -253.1 -253093 2.2 HDGF PKNOX1 ARNT SIN3A ZNF2 YY1 POLR2B ZNF213 E2F8 ZNF207 MIR5695 SYCE2 CCDC130 ZNF136 ZNF44 ZNF564 ZNF20 ZNF700 ZNF763 ZNF791
GH19I012733 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19 -69.1 -69061 5.7 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 TRIR ASNA1 ZNF136 CCDC130 ZNF44 ZNF564 WDR83OS ZNF700 ZNF791 ZNF878
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAN2B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAN2B1 gene promoter:

Genomic Locations for MAN2B1 Gene

Genomic Locations for MAN2B1 Gene
chr19:12,646,508-12,666,777
(GRCh38/hg38)
Size:
20,270 bases
Orientation:
Minus strand
chr19:12,757,322-12,777,591
(GRCh37/hg19)

Genomic View for MAN2B1 Gene

Genes around MAN2B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAN2B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAN2B1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAN2B1 Gene

Proteins for MAN2B1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MAN2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00754-MA2B1_HUMAN
    Recommended name:
    Lysosomal alpha-mannosidase
    Protein Accession:
    O00754
    Secondary Accessions:
    • G5E928
    • O15330
    • Q16680
    • Q93094
    • Q9BW13

    Protein attributes for MAN2B1 Gene

    Size:
    1011 amino acids
    Molecular mass:
    113744 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB03816.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAC50812.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MAN2B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAN2B1 Gene

Protein Expression for MAN2B1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MAN2B1 Gene

O00754:
  • IDPFGHS
  • NGGWVMNDEA
  • PTRRFIYVE
  • AFFSRWWHQQTN
  • MQLTVLTDRSQGGSS
  • AGNYYPV
  • HTHDDVGWLKTVD
  • VLYSTPACYLWELNKANL
  • LVQEVHQNF
  • PMEIRTFLASVQW
  • WGKEVISRFDT
  • LERRRDYRP
  • RHLELEW
  • LNISICP
  • LVRQGRLEF
  • RIYITDG
  • TDSNGRE
  • ANVGPYGSGDSAPL
  • WHIDPFGHS
  • DFFPYAD
  • VHVLYSTP
  • VQYILDSV
  • FIYVEIAFF
  • RSPEYNA
  • SGAYIFRP

Post-translational modifications for MAN2B1 Gene

  • First processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). The 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked.
  • Heavily glycosylated.
  • Glycosylation at isoforms=2133, isoforms=2310, posLast=367367, posLast=497497, isoforms=2645, isoforms=2651, posLast=692692, posLast=766766, posLast=832832, posLast=930930, and posLast=989989
  • Modification sites at PhosphoSitePlus

Other Protein References for MAN2B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MAN2B1 Gene

Gene Families for MAN2B1 Gene

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

Protein Domains for MAN2B1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MAN2B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00754

UniProtKB/Swiss-Prot:

MA2B1_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 MAN2B1: view

Function for MAN2B1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MAN2B1 Gene

GENATLAS Biochemistry:
mannosidase alpha B isoform,exoglycosidase,110kDa,lysosomal,Golgi,involved in processing of Asp-linked (N) glycans
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.
UniProtKB/Swiss-Prot Function:
Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.

Enzyme Numbers (IUBMB) for MAN2B1 Gene

Phenotypes From GWAS Catalog for MAN2B1 Gene

Gene Ontology (GO) - Molecular Function for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004559 alpha-mannosidase activity TAS,IEA --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MAN2B1: view
genes like me logo Genes that share phenotypes with MAN2B1: view

Human Phenotype Ontology for MAN2B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAN2B1 Gene

MGI Knock Outs for MAN2B1:

Animal Model Products

CRISPR Products

miRNA for MAN2B1 Gene

miRTarBase miRNAs that target MAN2B1

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for MAN2B1 Gene

Localization for MAN2B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN2B1 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 MAN2B1 gene
Compartment Confidence
extracellular 5
lysosome 5
cytosol 3
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 25645918
GO:0005764 lysosome IEA --
GO:0035578 azurophil granule lumen TAS --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with MAN2B1: view

Pathways & Interactions for MAN2B1 Gene

genes like me logo Genes that share pathways with MAN2B1: view

Pathways by source for MAN2B1 Gene

2 KEGG pathways for MAN2B1 Gene

Gene Ontology (GO) - Biological Process for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006013 mannose metabolic process IBA,IEA --
GO:0006464 cellular protein modification process IDA 8910458
GO:0006517 protein deglycosylation TAS 8910458
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with MAN2B1: view

No data available for SIGNOR curated interactions for MAN2B1 Gene

Drugs & Compounds for MAN2B1 Gene

Products:

  1. Drug

(7) Drugs for MAN2B1 Gene - From: HMDB, Tocris, and Novoseek

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) 91
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 26
mannose Investigational Pharma 0

(3) Additional Compounds for MAN2B1 Gene - From: Novoseek and Tocris

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

(5) Tocris Compounds for MAN2B1 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 MAN2B1: view

Transcripts for MAN2B1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MAN2B1 Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(935) Selected AceView cDNA sequences:
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAN2B1 Gene

Mannosidase, alpha, class 2B, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAN2B1 Gene

No ASD Table

Relevant External Links for MAN2B1 Gene

GeneLoc Exon Structure for
MAN2B1
ECgene alternative splicing isoforms for
MAN2B1

Expression for MAN2B1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAN2B1 Gene

mRNA expression in normal human tissues for MAN2B1 Gene
mRNA expression by GTEx for MAN2B1 GenemRNA expression by BioGPS for MAN2B1 Gene

mRNA differential expression in normal tissues according to GTEx for MAN2B1 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for MAN2B1 Gene

This gene is overexpressed in Lavage (8.7), Amniocyte (6.7), and Islet of Langerhans (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAN2B1 Gene



Protein tissue co-expression partners for MAN2B1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAN2B1 Gene:

MAN2B1

SOURCE GeneReport for Unigene cluster for MAN2B1 Gene:

Hs.356769

Evidence on tissue expression from TISSUES for MAN2B1 Gene

  • Lung(4.7)
  • Spleen(4.7)
  • Nervous system(4.7)
  • Liver(4.5)
  • Skin(4.4)
  • Blood(2.3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAN2B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
  • pancreas
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MAN2B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MAN2B1 Gene

Orthologs for MAN2B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAN2B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MAN2B1 33 34
  • 99.29 (n)
dog
(Canis familiaris)
 Mammalia MAN2B1 33
  • 84.72 (n)
-- 34
  • 82 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia MAN2B1 33
  • 83.05 (n)
MANB 34
  • 81 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Man2b1 33
  • 77.66 (n)
mouse
(Mus musculus)
 Mammalia Man2b1 33 16 34
  • 77.59 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 69 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 61 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia man2b1 33
  • 62.03 (n)
zebrafish
(Danio rerio)
 Actinopterygii man2b1 33 34
  • 60.45 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008584 33
  • 55.34 (n)
fruit fly
(Drosophila melanogaster)
 Insecta LM408 33
  • 53.28 (n)
BcDNA:GH02419 35
  • 45 (a)
CG5322 35 34
  • 42 (a)
CG6206 34
  • 42 (a)
 ManyToMany
CG9465 35 34
  • 40 (a)
CG9466 35 34
  • 39 (a)
CG9468 35 34
  • 39 (a)
CG9463 35 34
  • 38 (a)
worm
(Caenorhabditis elegans)
 Secernentea aman-1 33 34
  • 47.86 (n)
F55D10.1 35
  • 38 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G13980 33
  • 48.52 (n)
rice
(Oryza sativa)
 Liliopsida Os11g0525600 33
  • 48.94 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 50 (a)
 OneToMany
Species where no ortholog for MAN2B1 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)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAN2B1 Gene

ENSEMBL:
Gene Tree for MAN2B1 (if available)
TreeFam:
Gene Tree for MAN2B1 (if available)

Paralogs for MAN2B1 Gene

Paralogs for MAN2B1 Gene

(1) SIMAP similar genes for MAN2B1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MAN2B1: view

Variants for MAN2B1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MAN2B1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs10410289 conflicting-interpretations-of-pathogenicity, Deficiency of alpha-mannosidase 12,648,277(-) G/A/C coding_sequence_variant, synonymous_variant
rs1054486 conflicting-interpretations-of-pathogenicity, benign, not specified, Deficiency of alpha-mannosidase 12,663,394(-) G/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1054487 conflicting-interpretations-of-pathogenicity, benign, likely-benign, not specified, Deficiency of alpha-mannosidase, not provided 12,661,351(-) G/A/C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1057516289 likely-pathogenic, Deficiency of alpha-mannosidase 12,652,440(-) A/ coding_sequence_variant, frameshift
rs1057516325 likely-pathogenic, Deficiency of alpha-mannosidase 12,665,511(-) G/A 5_prime_UTR_variant, coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for MAN2B1 Gene

Variant ID Type Subtype PubMed ID
dgv138n111 CNV deletion 26073780
nsv1160586 CNV duplication 26073780
nsv138389 CNV deletion 16902084

Variation tolerance for MAN2B1 Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.86; 89.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAN2B1 Gene

Human Gene Mutation Database (HGMD)
MAN2B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN2B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN2B1 Gene

Disorders for MAN2B1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MAN2B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mannosidosis, alpha b, lysosomal
  • mansa
alpha-mannosidosis, infantile form
  • lysosomal alpha-d-mannosidase deficiency, infantile form
alpha-mannosidosis, adult form
  • lysosomal alpha-d-mannosidase deficiency, adult form
mannosidosis
  • alpha-mannosidosis
mannosidosis, beta a, lysosomal
  • mansb
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MA2B1_HUMAN
  • Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]: A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities. {ECO:0000269 PubMed:12718372, ECO:0000269 PubMed:15712269, ECO:0000269 PubMed:22161967, ECO:0000269 PubMed:9158146, ECO:0000269 PubMed:9758606, ECO:0000269 PubMed:9915946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MAN2B1 Gene

mannosidosis alpha,characterized by progressive mental retardation,hepatosplenomegaly,severe dysostosis multiplex and early death,milder forms in juvenile-adult

Additional Disease Information for MAN2B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MAN2B1: view

Publications for MAN2B1 Gene

  1. Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. (PMID: 15712269) Sbaragli M … Beccari T (Human mutation 2005) 3 4 22 58
  2. Spectrum of mutations in alpha-mannosidosis. (PMID: 9915946) Berg T … Nilssen O (American journal of human genetics 1999) 3 4 22 58
  3. Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. (PMID: 9758606) Gotoda Y … Matsumoto T (American journal of human genetics 1998) 3 4 22 58
  4. alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. (PMID: 9158146) Nilssen O … Tollersrud OK (Human molecular genetics 1997) 3 4 22 58
  5. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). (PMID: 9192839) Riise HM … Ceccherini I (Genomics 1997) 3 4 22 58

Products for MAN2B1 Gene

Sources for MAN2B1 Gene