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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:28803204-28876743 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 16.32 cM, cytoband A4
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1886 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 Chr11:28803154-28876743 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EFEMP1, EGF containing fibulin extracellular matrix protein 1
  • Synonyms
    ARCL1D, DHRD, DRAD, FBLN3, FBNL, FIBL-3, GLC1H, MLVT, MTLV, S1-5
  • Links
    NCBI Gene ID: 2202
    neXtProt AC: NX_Q12805
    UniProt: Q12805

  • Chr Location
    2p16.1; chr2:55865967-55924139 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Efemp1 mouse models; 2 with human EFEMP1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
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
less
  • Phenotype Summary
    44 phenotypes from 5 alleles in 5 genetic backgrounds
    25 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.
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
    28
  • GO References
    9
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
    890
  • Tissues
    93
  • cDNA Data
    31
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020467 Ensembl Gene Model | MGI Sequence Detail 73540 C57BL/6J ±  kb
    transcript ENSMUST00000020759 Ensembl | MGI Sequence Detail 2037 Not Applicable  
    polypeptide ENSMUSP00000020759 Ensembl | 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
      (term hierarchy)
    • InterPro Domains
      IPR026823 Complement Clr-like EGF domain
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      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
      Q8BPB5 2 sites, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 33
      cDNA 31
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 9
      Phenotypes 25
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • 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)
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    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