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Efemp1 Gene Detail
Summary
  • Symbol
    Efemp1
  • Name
    epidermal growth factor-containing fibulin-like extracellular matrix protein 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1339998
    NCBI Gene: 216616
  • Gene Overview
    MyGene.info: EFEMP1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:28853205-28926743 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 16.32 cM, cytoband A4
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    598 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1339998
protein coding gene Chr11:28853204-28926743 (.)
129S1/SvImJ MGP_129S1SvImJ_G0018102
protein coding gene Chr11:26850101-26925754 (+)
A/J MGP_AJ_G0018074
protein coding gene Chr11:25875919-25953303 (+)
AKR/J MGP_AKRJ_G0018039
protein coding gene Chr11:26704135-26776294 (+)
BALB/cJ MGP_BALBcJ_G0018042
protein coding gene Chr11:26036466-26114703 (+)
C3H/HeJ MGP_C3HHeJ_G0017856
protein coding gene Chr11:26641764-26715542 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018495
protein coding gene Chr11:27829149-27904474 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016152
protein coding gene Chr11:24537790-24612797 (+)
CAST/EiJ MGP_CASTEiJ_G0017418
protein coding gene Chr11:26671568-26755306 (+)
CBA/J MGP_CBAJ_G0017830
protein coding gene Chr11:29092083-29171155 (+)
DBA/2J MGP_DBA2J_G0017940
protein coding gene Chr11:25725763-25802766 (+)
FVB/NJ MGP_FVBNJ_G0017932
protein coding gene Chr11:25524235-25599192 (+)
LP/J MGP_LPJ_G0018012
protein coding gene Chr11:27109939-27180591 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017958
protein coding gene Chr11:30141655-30227359 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018535
protein coding gene Chr11:26847925-26923143 (+)
PWK/PhJ MGP_PWKPhJ_G0017200
protein coding gene Chr11:25825622-25902833 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016995
protein coding gene Chr11:26515410-26588481 (+)
WSB/EiJ MGP_WSBEiJ_G0017471
protein coding gene Chr11:26511479-26584524 (+)



Homology
more
  • Human Ortholog
    EFEMP1, EGF containing fibulin extracellular matrix protein 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    EFEMP1, EGF containing fibulin extracellular matrix protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5
  • Links
    NCBI Gene ID: 2202
    neXtProt AC: NX_Q12805
    UniProt: Q12805

  • Chr Location
    2p16.1; chr2:55865962-55924163 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Efemp1 mouse models; 1 with human EFEMP1 associations

Human Disease Mouse Models
      
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 5 alleles in 5 genetic backgrounds
    18 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.
Mice homozygous for disruptions in this gene display a normal phenotype. Mice homozygous for a single amino acid substitution develop deposits below the retinal pigment epithelium.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 216616 NCBI Gene Model | MGI Sequence Detail 73539 C57BL/6J ±  kb
    transcript NM_146015 RefSeq | MGI Sequence Detail 2036 C57BL/6  
    polypeptide Q8BPB5 UniProt | EBI | MGI Sequence Detail 493 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000006913 EGF-containing fibulin-like extracellular matrix protein 1
    • InterPro Domains
      IPR026823 Complement Clr-like EGF domain
      IPR032973 EGF-containing fibulin-like extracellular matrix protein 1
      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 33
      cDNA 31
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 7
      Phenotypes 18
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:265607 Naba A, et al., Quantitative proteomic profiling of the extracellular matrix of pancreatic islets during the angiogenic switch and insulinoma progression. Sci Rep. 2017 Jan 10;7:40495

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory