MAN2B1 Gene (Protein Coding)

Mannosidase Alpha Class 2B Member 1

GC19M012663
GIFtS:
43
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 t... See more...

Aliases for MAN2B1 Gene

Aliases for MAN2B1 Gene

  • Mannosidase Alpha Class 2B Member 1 2 3 4 5
  • LAMAN 2 3 4
  • Lysosomal Acid Alpha-Mannosidase 3 4
  • Lysosomal Alpha-Mannosidase 3 4
  • Mannosidase Alpha-B 3 4
  • EC 3.2.1.24 4 51
  • MANB 3 4
  • Mannosidase, Alpha, Class 2B, Member 1 2
  • Mannosidase, Alpha B, Lysosomal 3
  • EC 3.2.1 51
  • MAN2B1 5
  • Laman 4

External Ids for MAN2B1 Gene

Previous HGNC Symbols for MAN2B1 Gene

  • MANB

Previous GeneCards Identifiers for MAN2B1 Gene

  • GC19M012888
  • GC19M012980
  • GC19M012602
  • GC19M012618
  • GC19M012757
  • GC19M012330
  • GC19M012649
  • GC19M012653

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 Lysosome and Other glycan degradation. 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 Summary 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 , Rfam classification and piRNA Summary for MAN2B1 Gene

Genomics for MAN2B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MAN2B1 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 MAN2B1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAN2B1

Top Transcription factor binding sites by QIAGEN in the MAN2B1 gene promoter:
  • Bach2
  • GATA-1
  • HOXA5
  • NF-1
  • NF-1/L
  • NRF-2
  • POU2F1
  • POU2F1a
  • RFX1
  • Sp1

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)
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 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAC50812.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Asn133, Asn310, Asn367, Asn497, Asn645, Asn651, Asn692, Asn766, Asn832, Asn930, and Asn989
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MA2B1_HUMAN (775)

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 intracellular proteins

Protein Domains for MAN2B1 Gene

InterPro:
Blocks:
  • Glycoside hydrolase, family 38
ProtoNet:

Suggested Antigen Peptide Sequences for MAN2B1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54572, highly similar to Lysosomal alpha-mannosidase (EC 3.2.1.24) (B4E0K9_HUMAN)
  • Mannosidase alpha-B (MA2B1_HUMAN)
  • Truncated lysosomal acid alpha-mannosidase (Q93093_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.; EC=3.2.1.24;.
GENATLAS Biochemistry:
mannosidase alpha B isoform,exoglycosidase,110kDa,lysosomal,Golgi,involved in processing of Asp-linked (N) glycans

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:0003824 catalytic activity IEA --
GO:0004559 alpha-mannosidase activity IEA --
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 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN2B1

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
nucleus 3
cytosol 3
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 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:0005774 vacuolar membrane IBA 21873635
GO:0035578 azurophil granule 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 IEA --
GO:0006464 cellular protein modification process IDA 8910458
GO:0006517 protein deglycosylation TAS --
GO:0007611 learning or memory 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) 99
Castanospermine Experimental Pharma Glucosidases alpha and beta inhibitor 0
mannose Investigational Pharma 0
1-Deoxynojirimycin Investigational Pharma Glucosidase I and II inhibitor 12

(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

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN2B1

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

No ASD Table

Relevant External Links for MAN2B1 Gene

GeneLoc Exon Structure for
MAN2B1

Expression for MAN2B1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MAN2B1 Gene



Protein tissue co-expression partners for MAN2B1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAN2B1

SOURCE GeneReport for Unigene cluster for MAN2B1 Gene:

Hs.356769

Evidence on tissue expression from TISSUES for MAN2B1 Gene

  • Nervous system(4.8)
  • Spleen(4.7)
  • Lung(4.7)
  • Skin(4.6)
  • Liver(4.5)
  • Blood(2.8)
  • Intestine(2.4)
  • Bone marrow(2.4)
  • Kidney(2.2)
  • Lymph node(2.2)

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 30 31
  • 99.29 (n)
 OneToMany
Dog
(Canis familiaris)
 Mammalia MAN2B1 30
  • 84.72 (n)
-- 31
  • 82 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia MAN2B1 30
  • 83.05 (n)
MANB 31
  • 81 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Man2b1 30
  • 77.66 (n)
Mouse
(Mus musculus)
 Mammalia Man2b1 30 17 31
  • 77.59 (n)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 69 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 61 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia man2b1 30
  • 62.03 (n)
Zebrafish
(Danio rerio)
 Actinopterygii man2b1 30 31
  • 60.45 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008584 30
  • 55.34 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta LM408 30
  • 53.28 (n)
BcDNA:GH02419 32
  • 45 (a)
CG6206 31
  • 42 (a)
 ManyToMany
CG5322 31 32
  • 42 (a)
 ManyToMany
CG9466 31 32
  • 40 (a)
 ManyToMany
CG9465 31 32
  • 40 (a)
 ManyToMany
CG9468 31 32
  • 39 (a)
 ManyToMany
CG9463 31 32
  • 39 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea aman-1 30 31
  • 47.86 (n)
 OneToMany
F55D10.1 32
  • 38 (a)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT5G13980 30
  • 48.52 (n)
Rice
(Oryza sativa)
 Liliopsida Os11g0525600 30
  • 48.94 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 50 (a)
 OneToMany
Species where no ortholog for MAN2B1 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MAN2B1: view image

Paralogs for MAN2B1 Gene

Paralogs for MAN2B1 Gene

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

  • MA2B1_HUMAN
  • M0QXY0_HUMAN
  • M0QYZ1_HUMAN
  • M0QZG6_HUMAN
  • M0R174_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAN2B1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
644216 Uncertain Significance: Deficiency of alpha-mannosidase 12,647,496(-) C/T MISSENSE_VARIANT
648756 Uncertain Significance: Deficiency of alpha-mannosidase 12,649,335(-) A/T INTRON_VARIANT
649866 Likely Pathogenic: Deficiency of alpha-mannosidase 12,658,345(-) C/A SPLICE_ACCEPTOR_VARIANT
649913 Uncertain Significance: Deficiency of alpha-mannosidase 12,646,690(-) T/C MISSENSE_VARIANT
657499 Uncertain Significance: Deficiency of alpha-mannosidase 12,665,741(-) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MAN2B1 Gene

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

(10) MalaCards diseases for MAN2B1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
  • methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency
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
Open Targets Platform
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 23
  2. Spectrum of mutations in alpha-mannosidosis. (PMID: 9915946) Berg T … Nilssen O (American journal of human genetics 1999) 3 4 23
  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 23
  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 23
  5. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). (PMID: 9192839) Riise HM … Ceccherini I (Genomics 1997) 3 4 23

ExternalLinks

View latest publications for MAN2B1 gene in Mastermind

Products for MAN2B1 Gene