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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 61
  • 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 61

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-, Types I And Ii and Alpha-Mannosidosis, Adult Form. Among its related pathways are Innate Immune System and Lysosomal oligosaccharide catabolism. 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.

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

Regulatory Elements for MAN2B1 Gene

Enhancers for MAN2B1 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
GH19G012781 1.9 FANTOM5 ENCODE dbSUPER 14 -122.5 -122521 16.0 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 ZNF136 ZNF844 CCDC130 ZNF564 ZNF442 ZNF625 MRI1 ZNF44 C19orf43 WDR83OS
GH19G012757 1.5 Ensembl ENCODE dbSUPER 11.2 -91.1 -91144 1.2 FOXA2 PKNOX1 AGO1 ARID4B SIN3A ZNF2 ZNF48 GLIS2 ZNF143 KLF13 JUNB HOOK2 C19orf43 ASNA1 TNPO2 MAST1 RNASEH2A RTBDN WDR83OS MAN2B1
GH19G012918 1.1 ENCODE 11.2 -253.1 -253094 2.2 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A ZNF2 YY1 ZNF143 ZNF207 ZNF136 CCDC130 ZNF564 ZNF844 ZNF44 ZNF791 ZNF625 WDR83OS ENSG00000242615 ZNF700
GH19G012564 1 Ensembl ENCODE 12.3 +102.5 102477 0.6 ELF3 CTCF MXI1 SAP130 ARID4B MAX ZNF384 ZNF2 RAD21 TEAD3 MAN2B1 WDR83 WDR83OS PGK1P2 ENSG00000269693
GH19G012777 1.7 FANTOM5 ENCODE dbSUPER 6.7 -112.1 -112056 3.3 HDGF FOXA2 PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZNF788 ZNF709 ZNF491 ENSG00000242615 DNASE2 MAN2B1 TNPO2 RNASEH2A JUNB ZNF44
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAN2B1 on UCSC Golden Path with GeneCards custom track

Promoters for MAN2B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107284 277 1401 PKNOX1 ATF1 AGO1 WRNIP1 SIN3A ARID4B ZNF2 ZNF48 YY1 GLIS2

Genomic Location for MAN2B1 Gene

Chromosome:
19
Start:
12,646,508 bp from pter
End:
12,666,777 bp from pter
Size:
20,270 bases
Orientation:
Minus strand

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 StructureGene Density

RefSeq DNA sequence for MAN2B1 Gene

Proteins for MAN2B1 Gene

  • 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

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 posLast=133133, posLast=310310, Asn367, posLast=497497, posLast=645645, Asn651, Asn692, Asn766, posLast=832832, posLast=930930, and Asn989
  • Modification sites at PhosphoSitePlus

Domains & Families for MAN2B1 Gene

Gene Families for MAN2B1 Gene

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

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

Gene Ontology (GO) - Molecular Function for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004559 alpha-mannosidase activity IEA,TAS --
GO:0008270 zinc ion binding IEA --
GO:0015923 mannosidase activity IEA --
GO:0016787 hydrolase activity 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

Clone Products

Flow Cytometry 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

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

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

(5) Drugs for MAN2B1 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

(6) Additional Compounds for MAN2B1 Gene - From: HMDB, Novoseek, 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 MAN2B1 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 MAN2B1: view

Transcripts for MAN2B1 Gene

Unigene Clusters for MAN2B1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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
Organs:
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

Primer Products

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 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia MAN2B1 34
  • 84.72 (n)
-- 35
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MAN2B1 34
  • 83.05 (n)
MANB 35
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Man2b1 34
  • 77.66 (n)
mouse
(Mus musculus)
Mammalia Man2b1 34 16 35
  • 77.59 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia man2b1 34
  • 62.03 (n)
zebrafish
(Danio rerio)
Actinopterygii man2b1 34 35
  • 60.45 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008584 34
  • 55.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta LM408 34
  • 53.28 (n)
BcDNA:GH02419 36
  • 45 (a)
CG5322 36 35
  • 42 (a)
CG6206 35
  • 42 (a)
ManyToMany
CG9465 36 35
  • 40 (a)
CG9466 36 35
  • 39 (a)
CG9468 36 35
  • 39 (a)
CG9463 36 35
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea aman-1 34 35
  • 47.86 (n)
F55D10.1 36
  • 38 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G13980 34
  • 48.52 (n)
rice
(Oryza sativa)
Liliopsida Os11g0525600 34
  • 48.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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

Sequence variations from dbSNP and Humsavar for MAN2B1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs121434333 other, Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] 12,658,470(-) CACCC(C/G)CGCTT intron-variant, reference, missense
rs368899357 Uncertain significance, Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] 12,657,514(+) GGTGC(A/C)GCTGA reference, missense
rs370760999 Uncertain significance, Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] 12,658,250(+) GCGCT(C/T)GTAGC reference, missense
rs387906261 other, Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] 12,665,750(-) CACAC(A/C/T)TGATG upstream-variant-2KB, reference, missense
rs398123456 Pathogenic, Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500], Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500] 12,649,174(-) CCCAG(A/C/G/T)GGGGC reference, missense

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
mannosidosis, alpha-, types i and ii
  • mannosidosis, alpha b, lysosomal
alpha-mannosidosis, adult form
  • lysosomal alpha-d-mannosidase deficiency, adult form
alpha-mannosidosis, infantile form
  • lysosomal alpha-d-mannosidase deficiency, infantile form
mannosidosis
  • alpha-mannosidosis
mannosidosis, beta
  • mannosidosis, beta a, lysosomal
- 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

Relevant External Links for MAN2B1

Genetic Association Database (GAD)
MAN2B1
Human Genome Epidemiology (HuGE) Navigator
MAN2B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAN2B1
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. (Hum. Mutat. 2005) 3 4 22 64
  2. Spectrum of mutations in alpha-mannosidosis. (PMID: 9915946) Berg T. … Nilssen O. (Am. J. Hum. Genet. 1999) 3 4 22 64
  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. (Am. J. Hum. Genet. 1998) 3 4 22 64
  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 O.-K. (Hum. Mol. Genet. 1997) 3 4 22 64
  5. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). (PMID: 9192839) Riise H.M.F. … Ceccherini I. (Genomics 1997) 3 4 22 64

Products for MAN2B1 Gene

Sources for MAN2B1 Gene

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