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Efemp1
Gene Detail
Symbol

Name
ID
Efemp1
epidermal growth factor-containing fibulin-like extracellular matrix protein 1
MGI:1339998
Feature Type
protein coding gene
Genetic Map
Chromosome 11
16.32 cM, cytoband A4
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:28853204-28926743 bp, + strand
From VEGA annotation of GRCm38

  73540 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3028  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: EFEMP1
Gene Tree: Efemp1

Human
homologs
EFEMP1, EGF containing fibulin-like extracellular matrix protein 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2202
neXtProt AC: NX_Q12805

Human Synonyms: DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5

Human Chr (Location): 2p16; chr2:55865962-55924163 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human EFEMP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Efemp1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Efemp1 interacts with 109 markers (Mir29a, Mir32, Mir96, ...)
Expression
Literature Summary: (6 records)
Data Summary: Results (32)    Tissues (7)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 26
RT-PCR 6
cDNA source data(29)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase efemp1    NEW 
Molecular
reagents
All nucleic(30) cDNA(29) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000005315 (Evidence)
Ensembl Gene Model ENSMUSG00000020467 (Evidence)
Entrez Gene 216616 (Evidence)
UniGene 44176
DFCI TC1581531
DoTS DT.486220
NIA Mouse Gene Index U012400
Consensus CDS Project CCDS48761.1
International Mouse Phenotyping Consortium Status Efemp1
Sequences
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 sequences
All sequences(37) RefSeq(8) UniProt(5)
Polymorphisms
SNPs within 2kb(613 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026823 Complement Clr-like EGF domain
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
Protein Ontology PR:000006913 EGF-containing fibulin-like extracellular matrix protein 1
References
(Earliest) J:55512 Stone EM, et al., A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999 Jun;22(2):199-202
(Latest) J:217339 Beiser KU, et al., Identification of novel SHOX target genes in the developing limb using a transgenic mouse model. PLoS One. 2014;9(6):e98543
All references(43)
Disease annotation references (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory