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Efemp2
Gene Detail
 Symbol
Name
ID
Efemp2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
MGI:1891209
Synonyms 0610011K11Rik, Fbln4, fibulin 4, fibulin-4, MBP1
Feature Type protein coding gene
Genetic Map
Chromosome 19
4.33 cM, cytoband A
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr19:5473973-5481853 bp, + strand
From VEGA annotation of GRCm38

  7881 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32339  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

Gene Tree: Efemp2

Human
homologs
Human Homolog EFEMP2, EGF containing fibulin-like extracellular matrix protein 2
NCBI Gene ID 30008
neXtProt AC  NX_O95967
Human Synonyms  ARCL1B, FBLN4, MBP1, UPH1
Human Chr (Location)  11q13.1; chr11:65866441-65872934 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human EFEMP2
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Phenotype Images(1)
Interactions
Efemp2 interacts with 106 markers (Mir1b, Mir15a, Mir15b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process blood coagulation
Component extracellular region, extracellular vesicular exosome, ...
Function calcium ion binding, transmembrane signaling receptor activity
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (184)    Tissues (101)    Images (84)
Theiler Stages: 10, 11, 13, 17, 18, 20, 23, 25, 28
Assay TypeResults
RNA in situ 12
In situ reporter (knock in) 122
Northern blot 12
RT-PCR 38
cDNA source data(48)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(50) cDNA(48) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000036759 (Evidence)
Ensembl Gene ModelENSMUSG00000024909 (Evidence)
Entrez Gene58859 (Evidence)
UniGene276367
DFCITC1577784, TC1627337
DoTSDT.101724323, DT.60118230, DT.91576939, DT.99777476
NIA Mouse Gene IndexU051376
Consensus CDS ProjectCCDS29466.1, CCDS50358.1
International Mouse Knockout Project StatusEfemp2
Sequences
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 sequences
All sequences(103) RefSeq(16) UniProt(15)
Polymorphisms SNPs within 2kb(33 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR026824 EGF-containing fibulin-like extracellular matrix protein 1/2
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR001491 Thrombomodulin
Protein Ontology PR:000006914 EGF-containing fibulin-like extracellular matrix protein 2
References (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:179089 Jaffe M, et al., Transforming Growth Factor-beta Signaling in Myogenic Cells Regulates Vascular Morphogenesis, Differentiation, and Matrix Synthesis. Arterioscler Thromb Vasc Biol. 2012 Jan;32(1):e1-e11
All references(45)
Other
accession IDs
MGI:1922058

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
09/09/2014
MGI 5.19
The Jackson Laboratory