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Efemp2 Gene Detail
Summary
  • Symbol
    Efemp2
  • Name
    epidermal growth factor-containing fibulin-like extracellular matrix protein 2
  • Synonyms
    0610011K11Rik, Fbln4, fibulin 4, fibulin-4, MBP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891209
    NCBI Gene: 58859
  • Gene Overview
    MyGene.info: EFEMP2
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:5473973-5481853 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 4.33 cM, cytoband A
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    33 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891209
protein coding gene Chr19:5473960-5481854 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024710
protein coding gene Chr19:2443152-2451055 (+)
A/J MGP_AJ_G0024676
protein coding gene Chr19:2308686-2316555 (+)
AKR/J MGP_AKRJ_G0024649
protein coding gene Chr19:2366484-2374349 (+)
BALB/cJ MGP_BALBcJ_G0024676
protein coding gene Chr19:2302359-2310226 (+)
C3H/HeJ MGP_C3HHeJ_G0024444
protein coding gene Chr19:2376730-2384626 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025123
protein coding gene Chr19:2498745-2508208 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022553
protein coding gene Chr19:2211853-2219740 (+)
CAST/EiJ MGP_CASTEiJ_G0023916
protein coding gene Chr19:2408193-2416054 (+)
CBA/J MGP_CBAJ_G0024416
protein coding gene Chr19:2611528-2620461 (+)
DBA/2J MGP_DBA2J_G0024543
protein coding gene Chr19:2287956-2295825 (+)
FVB/NJ MGP_FVBNJ_G0024510
protein coding gene Chr19:2294697-2302609 (+)
LP/J MGP_LPJ_G0024629
protein coding gene Chr19:2422654-2430540 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024540
protein coding gene Chr19:2462807-2470719 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025171
protein coding gene Chr19:2388870-2396749 (+)
PWK/PhJ MGP_PWKPhJ_G0023662
protein coding gene Chr19:2325417-2333291 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023467
protein coding gene Chr19:2370145-2378002 (+)
WSB/EiJ MGP_WSBEiJ_G0023978
protein coding gene Chr19:2396357-2405986 (+)



Homology
more
  • Human Ortholog
    EFEMP2, EGF containing fibulin extracellular matrix protein 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    EFEMP2, EGF containing fibulin extracellular matrix protein 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARCL1B, FBLN4, MBP1, UPH1
  • Links
    NCBI Gene ID: 30008
    neXtProt AC: NX_O95967
    UniProt: O95967

  • Chr Location
    11q13.1; chr11:65866441-65872934 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Efemp2 mouse models

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 6 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    17 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.
Homozygous mutation of this gene results in perinatal lethality with abnormal artery and lung morphology and defects in vascular, pulmonary, and hypodermal elastic fibers. Some alleles of Mus81 also affect expression of this gene.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024909 Ensembl Gene Model | MGI Sequence Detail 7881 C57BL/6J ±  kb
    transcript ENSMUST00000070118 Ensembl | MGI Sequence Detail 1781 Not Applicable  
    polypeptide ENSMUSP00000064719 Ensembl | MGI Sequence Detail 462 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      14 Sequences
    • InterPro Domains
      IPR026823 Complement Clr-like EGF domain
      IPR026824 EGF-containing fibulin-like extracellular matrix protein 2
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      IPR013032 EGF-like, conserved site
      IPR000742 EGF-like domain
      IPR000152 EGF-type aspartate/asparagine hydroxylation site
      IPR037287 Fibulin 3/4/5
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 51
      cDNA 49
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1922058
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 5
      Phenotypes 17
    • Earliest
      J:15111 Ohno M, et al., MHC class II antigen expression and T-cell infiltration in the demyelinating CNS and PNS of the twitcher mouse. Brain Res. 1993 Oct 22;625(2):186-96
    • Latest
      J:258180 Halabi CM, et al., Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. Sci Adv. 2017 May;3(5):e1602532

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory