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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:5523982-5532545 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 4.33 cM, cytoband A
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    254 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 Chr19:5523974-5532548 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EFEMP2, EGF containing fibulin extracellular matrix protein 2
  • Synonyms
    ARCL1B, FBLN4, MBP1, UPH1
  • Links
    NCBI Gene ID: 30008
    neXtProt AC: NX_O95967
    UniProt: O95967

  • Chr Location
    11q13.1; chr11:65866441-65873592 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Efemp2 mouse models; 5 with human EFEMP2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    54 phenotypes from 6 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    24 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 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
less
  • All GO Annotations
    37
  • GO References
    18
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
    892
  • Tissues
    103
  • cDNA Data
    49
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024909 Ensembl Gene Model | MGI Sequence Detail 8564 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
      15 Sequences
    • Protein Ontology
      PR:000006914 EGF-containing fibulin-like extracellular matrix protein 2
      (term hierarchy)
    • InterPro Domains
      IPR026823 Complement Clr-like EGF domain
      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
      IPR050751 Extracellular matrix structural protein
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR049883 NOTCH1 EGF-like calcium-binding domain
    • GlyGen
      Q9WVJ9 2 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 51
      cDNA 49
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1922058
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 11
      Diseases 2
      Gene Ontology 18
      Phenotypes 24
    • 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:341869 Nguyen TAV, et al., Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity. J Am Heart Assoc. 2023 Jan 3;12(1):e026942
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory