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Man2b1 Gene Detail
Summary
  • Symbol
    Man2b1
  • Name
    mannosidase 2, alpha B1
  • Synonyms
    lysosomal alpha-mannosidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:107286
    NCBI Gene: 17159
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:85809899-85824911 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 41.55 cM, cytoband C2
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    114 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107286
 protein coding gene Chr8:85809387-85825368 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033895
 protein coding gene Chr8:86031126-86045840 (+)
A/J MGP_AJ_G0033878
 protein coding gene Chr8:82632687-82647433 (+)
AKR/J MGP_AKRJ_G0033804
 protein coding gene Chr8:85090499-85105214 (+)
BALB/cJ MGP_BALBcJ_G0033871
 protein coding gene Chr8:82767036-82781749 (+)
C3H/HeJ MGP_C3HHeJ_G0033581
 protein coding gene Chr8:85708041-85722795 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034391
 protein coding gene Chr8:89323553-89348617 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031332
 protein coding gene Chr8:76435100-76450001 (+)
CAST/EiJ MGP_CASTEiJ_G0032911
 protein coding gene Chr8:85139154-85156417 (+)
CBA/J MGP_CBAJ_G0033557
 protein coding gene Chr8:92352770-92367581 (+)
DBA/2J MGP_DBA2J_G0033710
 protein coding gene Chr8:82270024-82284775 (+)
FVB/NJ MGP_FVBNJ_G0033658
 protein coding gene Chr8:81229904-81245003 (+)
LP/J MGP_LPJ_G0033802
 protein coding gene Chr8:86140251-86154978 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033700
 protein coding gene Chr8:94914340-94933630 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034408
 protein coding gene Chr8:85079038-85093886 (+)
PWK/PhJ MGP_PWKPhJ_G0032614
 protein coding gene Chr8:81517500-81532854 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032451
 protein coding gene Chr8:83896753-83913967 (+)
WSB/EiJ MGP_WSBEiJ_G0033024
 protein coding gene Chr8:85508871-85524954 (+)



Homology
more
  • Human Ortholog
    MAN2B1, mannosidase alpha class 2B member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAN2B1, mannosidase alpha class 2B member 1
  • Synonyms
    LAMAN, MANB
  • Links
    NCBI Gene ID: 4125
    neXtProt AC: NX_O00754
    UniProt: O00754

  • Chr Location
    19p13.13; chr19:12646508-12666777 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Man2b1 mouse models; 1 with human MAN2B1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 1 allele in 1 genetic background
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    855
  • Tissues
    145
  • cDNA Data
    175
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000005142 Ensembl Gene Model | MGI Sequence Detail 15013 C57BL/6J ±  kb
    transcript ENSMUST00000034121 Ensembl | MGI Sequence Detail 3822 Not Applicable  
    polypeptide ENSMUSP00000034121 Ensembl | MGI Sequence Detail 1013 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000010107 lysosomal alpha-mannosidase
      (term hierarchy)
    • EC
      3.2.1.-, 3.2.1.24
    • InterPro Domains
      IPR011013 Galactose mutarotase-like domain superfamily
      IPR027291 Glycoside hydrolase 38, N-terminal domain superfamily
      IPR011330 Glycoside hydrolase/deacetylase, beta/alpha-barrel
      IPR028995 Glycoside hydrolase families 57/38, central domain superfamily
      IPR015341 Glycoside hydrolase family 38, central domain
      IPR037094 Glycoside hydrolase family 38, central domain superfamily
      IPR000602 Glycoside hydrolase family 38, N-terminal domain
      IPR013780 Glycosyl hydrolase, all-beta
      IPR011682 Glycosyl hydrolase family 38, C-terminal
      IPR041147 Glycosyl hydrolases family 38, C-terminal beta sandwich domain
    Molecular
    Reagents
    less
    • All nucleic 182
      Genomic 4
      cDNA 176
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-35751, MGI:2142759
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 9
      Phenotypes 40
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:282477 Baldelomar EJ, et al., In vivo measurements of kidney glomerular number and size in healthy and Os(/+) mice using MRI. Am J Physiol Renal Physiol. 2019 Oct 1;317(4):F865-F873
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    05/30/2023
    MGI 6.22     		The Jackson Laboratory