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Lemd3 Gene Detail
Summary
  • Symbol
    Lemd3
  • Name
    LEM domain containing 3
  • Synonyms
    Man1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3580376
    NCBI Gene: 380664
Location & Maps
more
  • Sequence Map
    Chr10:120923413-120979332 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      55920 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 68.88 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    LEMD3, LEM domain containing 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LEMD3, LEM domain containing 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MAN1
  • Links
    NCBI Gene ID: 23592
    neXtProt AC: NX_Q9Y2U8

  • Chr Location
    12q14; chr12:65169571-65248361 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 8633
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: LEMD3
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human LEMD3 associations

Human Disease Mouse Models
       Buschke-Ollendorff Syndrome; BOS   OMIM: 166700
Melorheostosis, Isolated   OMIM: 155950
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    9 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
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
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in embryonic lethality at midgestation, defects in vascular remodeling and increased apoptosis in embryos, particularly in mesenchymal tissues.
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 OTTMUSG00000031195 VEGA Gene Model | MGI Sequence Detail 55920 C57BL/6J ±  kb
transcript OTTMUST00000077295 VEGA | MGI Sequence Detail 4370 Not Applicable  
polypeptide OTTMUSP00000040843 VEGA | MGI Sequence Detail 940 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    244 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000009755 inner nuclear membrane protein Man1
  • InterPro Domains
    IPR018996 Inner nuclear membrane protein MAN1
    IPR003887 LEM domain
    IPR011015 LEM/LEM-like domain
    IPR012677 Nucleotide-binding alpha-beta plait domain
Molecular
Reagents
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  • All nucleic 44
    cDNA 43
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGI:2143571
References
more
  • Summaries
    All 31
    Developmental Gene Expression 3
    Gene Ontology 7
    Phenotypes 9
  • Earliest
    J:98702 Lin F, et al., MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin. J Biol Chem. 2000 Feb 18;275(7):4840-7
  • Latest
    J:153986 Huber MD, et al., Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation. Mol Cell Biol. 2009 Nov;29(21):5718-28

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory