Aliases for MAN2B1 Gene
Aliases for MAN2B1 Gene
External Ids for MAN2B1 Gene
- HGNC: 6826
- Entrez Gene: 4125
- Ensembl: ENSG00000104774
- OMIM: 609458
- UniProtKB: O00754
Previous HGNC Symbols for MAN2B1 Gene
- MANB
Previous GeneCards Identifiers for MAN2B1 Gene
- GC19M012888
- GC19M012980
- GC19M012602
- GC19M012618
- GC19M012757
- GC19M012330
Summaries 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.
-
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
- Monarch Initiative
- Search for MAN2B1 at DataMed
- Search for MAN2B1 at HumanCyc
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
GeneHancer (GH) Regulatory Elements for MAN2B1 Gene
Regulatory Element Products
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
- Cytogenetic band:
-
- 19p13.13 by Ensembl
- 19p13.13 by Entrez Gene
- 19p13.13 by HGNC


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
- 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};
Protein Expression 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 isoforms=2133, isoforms=2310, posLast=367367, posLast=497497, isoforms=2645, isoforms=2651, posLast=692692, posLast=766766, posLast=832832, posLast=930930, and posLast=989989
Other Protein References for MAN2B1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MAN2B1
-
Abcam antibodies for MAN2B1
-
Cloud-Clone Corp. Antibodies for MAN2B1
- Invitrogen Antibodies for MAN2B1
- Search GeneTex for Antibodies for MAN2B1
Protein Products
-
OriGene Purified Proteins for MAN2B1
- Search Origene for MassSpec and Protein Over-expression Lysates for MAN2B1
- Origene Custom Protein Services for MAN2B1
-
Cloud-Clone Corp. Proteins for MAN2B1
- antibodies-online: Search results for 10 available MAN2B1 Proteins ranked by validation data
- Compare Top MAN2B1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for MAN2B1
-
Abcam proteins for MAN2B1
Assay Products
-
Cloud-Clone Corp. Assay Kits for MAN2B1
- antibodies-online: Search results for 6 available MAN2B1 Elisa Kits ranked by validation data
- Compare Top MAN2B1 Elisa Kits
-
Quality Products:
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
Suggested Antigen Peptide Sequences for MAN2B1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O00754- Family:
-
- Belongs to the glycosyl hydrolase 38 family.
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
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for MAN2B1 Gene
- MGI mutant phenotypes for MAN2B1:
-
inferred from 1 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- cardiovascular system phenotype
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- hematopoietic system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for MAN2B1:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Decreased viability in esophageal squamous lineage
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased influenza A/WSN/33 replication
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
Animal Models for MAN2B1 Gene
- MGI Knock Outs for MAN2B1:
-
- Man2b1 tm1Psa
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MAN2B1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for MAN2B1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MAN2B1 gene
- Search ViGene Biosciences for MAN2B1
CRISPR Products
-
OriGene CRISPR knockouts for MAN2B1
- genomics-online: gRNA clones - Search results for available MAN2B1 gene related products
- Applied Biological Materials CRISPR for MAN2B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAN2B1
- GenScript: Design CRISPR guide RNA sequences for MAN2B1
miRNA for MAN2B1 Gene
- miRTarBase miRNAs that target MAN2B1
miRNA Products
- Search ViGene Biosciences for MAN2B1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MAN2B1
- Browse OriGene Inhibitory RNA Products For MAN2B1
- genomics-online: shRNA clones - Search results for available MAN2B1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for MAN2B1 gene
Clone Products
- Sino Biological Human cDNA Clone for MAN2B1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MAN2B1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MAN2B1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available MAN2B1 gene related products
- orf clones - Search results for available MAN2B1 gene related products
- Applied Biological Materials Clones for MAN2B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for MAN2B1
Cell Line Products
-
Horizon Cell Lines for MAN2B1
-
ViGene Biosciences adenoviral particle packaged cDNA for MAN2B1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MAN2B1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MAN2B1 gene
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.
- Vesicles (3)
- Nucleoplasm (1)
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 | -- |
Pathways & Interactions for MAN2B1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
|
2 | Lysosome |
-
|
|
3 | Other glycan degradation | ||
4 | Lysosomal oligosaccharide catabolism | ||
5 | Metabolism |
.37
|
Pathways by source for MAN2B1 Gene
6 Reactome pathways for MAN2B1 Gene
2 KEGG pathways for MAN2B1 Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for MAN2B1 Gene
Drugs & Compounds for MAN2B1 Gene
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 |
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 |
Transcripts for MAN2B1 Gene
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
-
OriGene CRISPR knockouts for MAN2B1
- genomics-online: gRNA clones - Search results for available MAN2B1 gene related products
- Applied Biological Materials CRISPR for MAN2B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAN2B1
- GenScript: Design CRISPR guide RNA sequences for MAN2B1
miRNA Products
- Search ViGene Biosciences for MAN2B1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MAN2B1
- Browse OriGene Inhibitory RNA Products For MAN2B1
- genomics-online: shRNA clones - Search results for available MAN2B1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for MAN2B1 gene
Clone Products
- Sino Biological Human cDNA Clone for MAN2B1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MAN2B1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MAN2B1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available MAN2B1 gene related products
- orf clones - Search results for available MAN2B1 gene related products
- Applied Biological Materials Clones for MAN2B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for MAN2B1
Expression for MAN2B1 Gene
mRNA differential expression in normal tissues according to GTEx for MAN2B1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAN2B1 Gene
NURSA nuclear receptor signaling pathways regulating expression of MAN2B1 Gene:
MAN2B1SOURCE GeneReport for Unigene cluster for MAN2B1 Gene:
Hs.356769Evidence 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
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
- 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
- chest wall
- clavicle
- heart
- lung
- rib
- rib cage
- scapula
- sternum
- abdominal wall
- intestine
- kidney
- liver
- pancreas
- spleen
- pelvis
- 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
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for MAN2B1
-
OriGene qPCR primer pairs and template standards for MAN2B1
- genomics-online: primer clones - Search results for available MAN2B1 gene related 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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | MAN2B1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | MAN2B1 33 |
|
||
-- 34 |
|
OneToMany | |||
cow (Bos Taurus) |
Mammalia | MAN2B1 33 |
|
||
MANB 34 |
|
OneToMany | |||
rat (Rattus norvegicus) |
Mammalia | Man2b1 33 |
|
||
mouse (Mus musculus) |
Mammalia | Man2b1 33 16 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | man2b1 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | man2b1 33 34 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008584 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | LM408 33 |
|
||
BcDNA:GH02419 35 |
|
|
|||
CG5322 35 34 |
|
||||
CG6206 34 |
|
ManyToMany | |||
CG9465 35 34 |
|
||||
CG9466 35 34 |
|
||||
CG9468 35 34 |
|
||||
CG9463 35 34 |
|
||||
worm (Caenorhabditis elegans) |
Secernentea | aman-1 33 34 |
|
||
F55D10.1 35 |
|
|
|||
thale cress (Arabidopsis thaliana) |
eudicotyledons | AT5G13980 33 |
|
||
rice (Oryza sativa) |
Liliopsida | Os11g0525600 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for MAN2B1 Gene
Paralogs for MAN2B1 Gene
(1) SIMAP similar genes for MAN2B1 Gene using alignment to 5 proteins:
Variants 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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv138n111 | CNV | deletion | 26073780 |
nsv1160586 | CNV | duplication | 26073780 |
nsv138389 | CNV | deletion | 16902084 |
Additional Variant Information for MAN2B1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN2B1 Gene
Disorders for MAN2B1 Gene

(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 |
|
|
alpha-mannosidosis, infantile form |
|
|
alpha-mannosidosis, adult form |
|
|
mannosidosis |
|
|
mannosidosis, beta a, lysosomal |
|
|
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
Additional Disease Information for MAN2B1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for MAN2B1 Gene
- 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
- Spectrum of mutations in alpha-mannosidosis. (PMID: 9915946) Berg T … Nilssen O (American journal of human genetics 1999) 3 4 22 58
- 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
- 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
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- R&D Systems cDNA Clones for MAN2B1
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
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- Browse Immunoprecipitation Assays
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for MAN2B1
- Search Origene for MassSpec and Protein Over-expression Lysates for MAN2B1
- Origene Custom Protein Services for MAN2B1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAN2B1
- Browse OriGene Inhibitory RNA Products For MAN2B1
- OriGene qPCR primer pairs and template standards for MAN2B1
- OriGene qPCR primer pairs for MAN2B1
- OriGene CRISPR knockouts for MAN2B1
- OriGene ORF clones in human for MAN2B1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MAN2B1
- GenScript: Next-day shipping of latest version cDNA ORF clones for MAN2B1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for MAN2B1
- GenScript Custom Assay Services for MAN2B1
- GenScript Custom overexpressing Cell Line Services for MAN2B1
- GenScript: Design CRISPR guide RNA sequences for MAN2B1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for MAN2B1
- Sino Biological Human cDNA Clone for MAN2B1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for MAN2B1
- Novus Biologicals lysates and proteins for MAN2B1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for MAN2B1
- Abcam proteins for MAN2B1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Cloud-Clone Corp. Antibodies for MAN2B1
- Cloud-Clone Corp. Proteins for MAN2B1
- Cloud-Clone Corp. Assay Kits for MAN2B1
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for MAN2B1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for MAN2B1
- VectorBuilder custom plasmid, inducible vectors for MAN2B1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MAN2B1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 11 available MAN2B1 Antibodies ranked by validation data
- Compare Top MAN2B1 Antibodies
- antibodies-online: Search results for 6 available MAN2B1 Elisa Kits ranked by validation data
- Compare Top MAN2B1 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 10 available MAN2B1 Proteins ranked by validation data
- Compare Top MAN2B1 Proteins
- Quality Products:
- Search GeneTex for Antibodies for MAN2B1
- Search GeneTex for Proteins for MAN2B1
- ViGene Biosciences adenoviral particle packaged cDNA for MAN2B1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for MAN2B1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for MAN2B1 gene
- Search ViGene Biosciences for MAN2B1
- Horizon Cell Lines for MAN2B1
- genomics-online: cdna clones - Search results for available MAN2B1 gene related products
- orf clones - Search results for available MAN2B1 gene related products
- genomics-online: gRNA clones - Search results for available MAN2B1 gene related products
- genomics-online: primer clones - Search results for available MAN2B1 gene related products
- genomics-online: shRNA clones - Search results for available MAN2B1 gene related products
Sources for MAN2B1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94)