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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
Location & Maps
more
  • Sequence Map
    Chr11:28853204-28926743 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      73540 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 16.32 cM, cytoband A4
  • Mapping Data
    2 experiments
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: HGNC, HomoloGene
  • 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
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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
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
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000005315 VEGA Gene Model | MGI Sequence Detail 73540 C57BL/6J ±  kb
    transcript OTTMUST00000011842 VEGA | MGI Sequence Detail 2037 Not Applicable  
    polypeptide OTTMUSP00000005484 VEGA | MGI Sequence Detail 493 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      598 from dbSNP Build 142
    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 51
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 5
      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:256168 Zayas-Santiago A, et al., Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane. Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3046-3054

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory