About   Help   FAQ
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
Location & Maps
more
  • Genetic Map
    Chromosome 19, 4.33 cM, cytoband A
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EFEMP2, EGF containing fibulin like extracellular matrix protein 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    EFEMP2, EGF containing fibulin like extracellular matrix protein 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ARCL1B, FBLN4, MBP1, UPH1
  • Links
    NCBI Gene ID: 30008
    neXtProt AC: NX_O95967

  • Chr Location
    11q13.1; chr11:65866441-65872934 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Efemp2 mouse models; 1 with human EFEMP2 associations

Human Disease Mouse Models
       Cutis Laxa, Autosomal Recessive, Type IB; ARCL1B   OMIM: 614437 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    52 phenotypes from 6 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    13 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
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036759 VEGA Gene Model | MGI Sequence Detail 7881 C57BL/6J ±  kb
transcript OTTMUST00000094317 VEGA | MGI Sequence Detail 1781 Not Applicable  
polypeptide OTTMUSP00000052424 VEGA | MGI Sequence Detail 462 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    33 from dbSNP Build 142
Protein
Information
less
  • UniProt
    14 Sequences
  • Protein Ontology
    PR:000006914 EGF-containing fibulin-like extracellular matrix protein 2
  • 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
    IPR009030 Growth factor receptor cysteine-rich domain
Molecular
Reagents
less
  • All nucleic 50
    cDNA 48
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGI:1922058
References
more
  • Summaries
    All 44
    Developmental Gene Expression 7
    Diseases 1
    Gene Ontology 4
    Phenotypes 13
  • 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:226034 Papke CL, et al., Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations. Hum Mol Genet. 2015 Oct 15;24(20):5867-79

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory