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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
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
- GC19M012649
- GC19M012653
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 Innate Immune System 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.
-
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 , Rfam classification and piRNA Summary for MAN2B1 Gene
Genomics for MAN2B1 Gene
GeneHancer (GH) Regulatory Elements for MAN2B1 Gene
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 UCSC Golden Path with GeneCards custom track
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:
-
- 19p13.13 by HGNC
- 19p13.13 by Entrez Gene
- 19p13.13 by Ensembl
MAN2B1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
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 Asn133, Asn310, Asn367, Asn497, Asn645, Asn651, Asn692, Asn766, Asn832, Asn930, and Asn989
- NX_O00754 (NX_O00754-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- MA2B1_HUMAN (775)
Other Protein References for MAN2B1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-MAN2B1 monoclonal antibody
- Novus Biologicals Antibodies for MAN2B1
-
Abcam antibodies for MAN2B1
- Invitrogen Antibodies for MAN2B1 (AFLGC-MAN2B1)
- antibodies-online: Show 3 available MAN2B1 Antibodies ranked by validation data
- Compare Top MAN2B1 Antibodies
-
Quality Products:
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for MAN2B1
- Origene Custom Protein Services for MAN2B1
- antibodies-online: Show 10 available MAN2B1 Proteins ranked by validation data
- Compare Top MAN2B1 Proteins
-
Quality Products:
-
Abcam proteins for MAN2B1
Assay Products
- Aviva Systems Biology MAN2B1 ELISA Kit (Human) (OKCD00777)
- antibodies-online: Show 7 available MAN2B1 Elisa Kits ranked by validation data
- Compare Top MAN2B1 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for MAN2B1
-
Signalway ELISA kits for MAN2B1
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
- Blocks:
-
- Glycoside hydrolase, family 38
- InterPro:
- 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- Family:
-
- Belongs to the glycosyl hydrolase 38 family.
Function for MAN2B1 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004559 | alpha-mannosidase activity | IEA,IBA | 21873635 |
| 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
- cardiovascular system phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- skeleton phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for MAN2B1:
-
- Decreased viability in esophageal squamous lineage
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased influenza A/WSN/33 replication
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Models for MAN2B1 Gene
- MGI Knock Outs for MAN2B1:
-
- Man2b1 Man2b1<tm1Psa>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MAN2B1 - Select products 50% OFF >
- * MAN2B1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MAN2B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAN2B1
- genomics-online: gRNA clones - Search results for available MAN2B1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAN2B1
miRNA for MAN2B1 Gene
- miRTarBase miRNAs that target MAN2B1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAN2B1
- Browse OriGene Inhibitory RNA Products For MAN2B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN2B1
- genomics-online: shRNA clones - Search results for available MAN2B1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for MAN2B1 - Select products 50% OFF >
- * MAN2B1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MAN2B1
- Addgene plasmids for MAN2B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAN2B1
- genomics-online: cdna clones - Search results for available MAN2B1 gene related products
- orf clones - Search results for available MAN2B1 gene related products
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| lysosome | 5 |
| cytosol | 3 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- 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:0005774 | vacuolar membrane | IBA | 21873635 |
| GO:0035578 | azurophil granule 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 |
.40
|
|
Pathways by source for MAN2B1 Gene
6 Reactome pathways for MAN2B1 Gene
2 KEGG pathways for MAN2B1 Gene
Interacting Proteins for MAN2B1 Gene
GPS-Prot Interaction Network for MAN2B1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0006013 | mannose metabolic process | IEA,IBA | 21873635 |
| GO:0006464 | cellular protein modification process | IDA | 8910458 |
| GO:0006517 | protein deglycosylation | TAS,IBA | 21873635 |
| 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) | 98 | ||
| Castanospermine | Experimental | Pharma | Glucosidases alpha and beta inhibitor | 0 | ||
| mannose | Investigational | Pharma | 0 | |||
| 1-Deoxynojirimycin | Investigational | Pharma | Glucosidase I and II inhibitor | 46 |
| 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
- 2 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000221363 3170 bps (ENST00000221363.8)
- ENST00000433513 560 bps (ENST00000433513.5)
- ENST00000456935 3185 bps (ENST00000456935.7)
- ENST00000462144 582 bps (ENST00000462144.1)
- ENST00000465830 574 bps (ENST00000465830.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MAN2B1 - Select products 50% OFF >
- * MAN2B1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MAN2B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAN2B1
- genomics-online: gRNA clones - Search results for available MAN2B1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAN2B1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAN2B1
- Browse OriGene Inhibitory RNA Products For MAN2B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN2B1
- genomics-online: shRNA clones - Search results for available MAN2B1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for MAN2B1 - Select products 50% OFF >
- * MAN2B1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MAN2B1
- Addgene plasmids for MAN2B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAN2B1
- genomics-online: cdna clones - Search results for available MAN2B1 gene related products
- orf clones - Search results for available MAN2B1 gene related products
Relevant External Links for MAN2B1 Gene
- GeneLoc Exon Structure for
- MAN2B1
Expression for MAN2B1 Gene
mRNA differential expression in normal tissues according to GTEx for MAN2B1 Gene
This gene is overexpressed in Whole Blood (x5.7).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAN2B1
SOURCE 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
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
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
Gene Expression Assay 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 31 30 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | MAN2B1 30 |
|
||
| -- 31 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | MAN2B1 30 |
|
||
| MANB 31 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Man2b1 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Man2b1 17 31 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | man2b1 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | man2b1 31 30 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008584 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | LM408 30 |
|
||
| BcDNA:GH02419 32 |
|
|
|||
| CG6206 31 |
|
ManyToMany | |||
| CG5322 31 32 |
|
ManyToMany | |||
| CG9466 31 32 |
|
ManyToMany | |||
| CG9465 31 32 |
|
ManyToMany | |||
| CG9468 31 32 |
|
ManyToMany | |||
| CG9463 31 32 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | aman-1 31 30 |
|
OneToMany | |
| F55D10.1 32 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT5G13980 30 |
|