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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:120759318-120815237 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 68.88 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1315 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3580376
 protein coding gene Chr10:120759316-120815491 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017778
 protein coding gene Chr10:124133409-124198322 (-)
A/J MGP_AJ_G0017753
 protein coding gene Chr10:119212385-119267219 (-)
AKR/J MGP_AKRJ_G0017716
 protein coding gene Chr10:122766782-122829057 (-)
BALB/cJ MGP_BALBcJ_G0017717
 protein coding gene Chr10:119601443-119659212 (-)
C3H/HeJ MGP_C3HHeJ_G0017541
 protein coding gene Chr10:122969013-123025882 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018172
 protein coding gene Chr10:128356936-128429965 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015852
 protein coding gene Chr10:113545727-113601595 (-)
CAST/EiJ MGP_CASTEiJ_G0017101
 protein coding gene Chr10:123313802-123375106 (-)
CBA/J MGP_CBAJ_G0017510
 protein coding gene Chr10:133594869-133666038 (-)
DBA/2J MGP_DBA2J_G0017616
 protein coding gene Chr10:118344730-118400449 (-)
FVB/NJ MGP_FVBNJ_G0017611
 protein coding gene Chr10:117328303-117385348 (-)
LP/J MGP_LPJ_G0017690
 protein coding gene Chr10:124676744-124736531 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017640
 protein coding gene Chr10:136156560-136219626 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018212
 protein coding gene Chr10:122776631-122842052 (-)
PWK/PhJ MGP_PWKPhJ_G0016886
 protein coding gene Chr10:118453528-118510339 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016677
 protein coding gene Chr10:121689950-121746015 (-)
WSB/EiJ MGP_WSBEiJ_G0017162
 protein coding gene Chr10:123023042-123082669 (-)



Homology
more
  • Human Ortholog
    LEMD3, LEM domain containing 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LEMD3, LEM domain containing 3
  • Synonyms
    MAN1
  • Links
    NCBI Gene ID: 23592
    neXtProt AC: NX_Q9Y2U8
    UniProt: Q9Y2U8

  • Chr Location
    12q14.3; chr12:65169583-65248355 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human LEMD3 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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
less
  • All GO Annotations
    18
  • GO References
    7
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
DNA-templated transcription
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
membraneless 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
    720
  • Tissues
    7
  • cDNA Data
    44
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000048661 Ensembl Gene Model | MGI Sequence Detail 55920 C57BL/6J ±  kb
    transcript ENSMUST00000119093 Ensembl | MGI Sequence Detail 4370 Not Applicable  
    polypeptide ENSMUSP00000112661 Ensembl | MGI Sequence Detail 940 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000009755 inner nuclear membrane protein Man1
      (term hierarchy)
    • InterPro Domains
      IPR052277 Inner Nuclear Membrane ESCRT-Associated Protein
      IPR003887 LEM domain
      IPR011015 LEM/LEM-like domain superfamily
      IPR034394 MAN1, RNA recognition motif
      IPR018996 Man1/Src1-like, C-terminal
      IPR041885 MAN1, winged-helix domain
      IPR012677 Nucleotide-binding alpha-beta plait domain superfamily
      IPR035979 RNA-binding domain superfamily
    • GlyGen
      Q9WU40 7 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (5 sites)
    Molecular
    Reagents
    less
    • All nucleic 45
      cDNA 44
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2143571
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 13
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory