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Man2a1 Gene Detail
Summary
  • Symbol
    Man2a1
  • Name
    mannosidase 2, alpha 1
  • Synonyms
    Mana2, Mana-2, Map-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:104669
    NCBI Gene: 17158
  • Gene Overview
    MyGene.info: MAN2A1
Location & Maps
more
  • Sequence Map
    Chr17:64600736-64755110 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      154375 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MAN2A1, mannosidase alpha class 2A member 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MAN2A1, mannosidase alpha class 2A member 1
    Orthology source: HomoloGene
  • Synonyms
    AMan II, GOLIM7, MANA2, MANII
  • Links
    NCBI Gene ID: 4124
    neXtProt AC: NX_Q16706

  • Chr Location
    5q21.3; chr5:109689366-109869625 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Man2a1 mouse models

Human Disease Mouse Models
       Anemia, Congenital Dyserythropoietic, Type II; CDAN2   OMIM: 224100 View 1 model
Systemic Lupus Erythematosus; SLE   OMIM: 152700 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
    26 phenotypes from 1 allele in 1 genetic background
    14 phenotypes from multigenic genotypes
    10 phenotype references
Phenotype Overview

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

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Gene trapped
    5
  • Targeted
    4
  • Incidental Mutations
Homozygous mutation of this gene results in premature death, dyserythropoiesis, systemic autoimmune disease, including an increase in serum immunoglobulins, glomerulonephritis, and hematuria,
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036800 VEGA Gene Model | MGI Sequence Detail 154375 C57BL/6J ±  kb
transcript OTTMUST00000094446 VEGA | MGI Sequence Detail 6991 Not Applicable  
polypeptide OTTMUSP00000052525 VEGA | MGI Sequence Detail 1150 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    799 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000010105 alpha-mannosidase 2
  • EC
  • InterPro Domains
    IPR011013 Galactose mutarotase-like domain
    IPR027291 Glycoside hydrolase 38/57, N-terminal domain
    IPR011330 Glycoside hydrolase/deacetylase, beta/alpha-barrel
    IPR028995 Glycoside hydrolase families 57/38, central domain
    IPR015341 Glycoside hydrolase family 38, central domain
    IPR000602 Glycoside hydrolase family 38, N-terminal domain
    IPR013780 Glycosyl hydrolase, all-beta
    IPR011682 Glycosyl hydrolase family 38, C-terminal
Molecular
Reagents
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  • All nucleic 94
    cDNA 94

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-12109, MGD-MRK-12110, MGD-MRK-27032
References
more
  • Summaries
    All 52
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 12
    Phenotypes 10
  • Earliest
    J:5798 Dizik M, et al., A gene apparently determining the extent of sialylation of lysosomal alpha-mannosidase in mouse liver. Biochem Genet. 1977 Feb;15(1-2):31-46
  • Latest
    J:193786 Elkis Y, et al., Testosterone deficiency accompanied by testicular and epididymal abnormalities in TMF(-/-) mice. Mol Cell Endocrinol. 2013 Jan 5;365(1):52-63

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory