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Egfem1 Gene Detail
Summary
  • Symbol
    Egfem1
  • Name
    EGF-like and EMI domain containing 1
  • Synonyms
    6130401L20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922990
    NCBI Gene: 75740
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:29136172-29745358 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 12.57 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    17625 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1922990
 protein coding gene Chr3:29135695-29831923 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027119
 protein coding gene Chr3:26505005-27142073 (+)
A/J MGP_AJ_G0027079
 protein coding gene Chr3:26221671-26827298 (+)
AKR/J MGP_AKRJ_G0027048
 protein coding gene Chr3:26609851-27214192 (+)
BALB/cJ MGP_BALBcJ_G0027091
 protein coding gene Chr3:25900074-26509319 (+)
C3H/HeJ MGP_C3HHeJ_G0026833
 protein coding gene Chr3:26649183-27262758 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027537
 protein coding gene Chr3:27946785-28619508 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024898
 protein coding gene Chr3:24209888-24772307 (+)
CAST/EiJ MGP_CASTEiJ_G0026287
 protein coding gene Chr3:26503405-27111825 (+)
CBA/J MGP_CBAJ_G0026811
 protein coding gene Chr3:28680448-29357426 (+)
DBA/2J MGP_DBA2J_G0026945
 protein coding gene Chr3:25789680-26389623 (+)
FVB/NJ MGP_FVBNJ_G0026913
 protein coding gene Chr3:25255749-25843428 (+)
LP/J MGP_LPJ_G0027056
 protein coding gene Chr3:27182924-27814508 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026933
 protein coding gene Chr3:31241843-31923679 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027596
 protein coding gene Chr3:26344444-26967289 (+)
PWK/PhJ MGP_PWKPhJ_G0026020
 protein coding gene Chr3:25280183-25880198 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025832
 protein coding gene Chr3:25832605-26460759 (+)
WSB/EiJ MGP_WSBEiJ_G0026361
 protein coding gene Chr3:26390607-27031024 (+)



Homology
more
  • Human Ortholog
    EGFEM1P, EGF like and EMI domain containing 1, pseudogene
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EGFEM1P, EGF like and EMI domain containing 1, pseudogene
  • Synonyms
    C3orf50, NCRNA00259
  • Links
    NCBI Gene ID: 93556
    UniProt: Q0D2K5

  • Chr Location
    3q26.2; chr3:168249522-168830599 (+)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    8 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    1
  • GO References
    1
Molecular Function

Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.
Cellular Component

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.
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
    706
  • cDNA Data
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000063600 Ensembl Gene Model | MGI Sequence Detail 609187 C57BL/6J ±  kb
    transcript ENSMUST00000119598 Ensembl | MGI Sequence Detail 2687 Not Applicable  
    polypeptide ENSMUSP00000112943 Ensembl | MGI Sequence Detail 590 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000033519 EGF-like and EMI domain-containing protein 1
      (term hierarchy)
    • InterPro Domains
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      IPR000742 EGF-like domain
      IPR000152 EGF-type aspartate/asparagine hydroxylation site
      IPR011489 EMI domain
      IPR050751 Extracellular matrix structural protein
      IPR051145 Growth Arrest-Specific/Sex Hormone-Binding/Vitamin K-Dependent
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR049883 NOTCH1 EGF-like calcium-binding domain
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 2
    References
    more
    • Summaries
      All 26
      Diseases 1
      Gene Ontology 1
      Phenotypes 8
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • 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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory