Efemp2 MGI Mouse Gene Detail - MGI:1891209 - epidermal growth factor-containing fibulin-like extracellular matrix protein 2

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

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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 3 zebrafish

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; chr11:65633912-65640405 (-) GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EFEMP2

Alleles
and
phenotypes

All alleles(9) : Targeted(9)

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)

Gene Ontology
(GO)
classifications

All GO classifications: (6 annotations)

Process	blood coagulation
Component	extracellular region, membrane, ...
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 Type	Results
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 ArrayExpress

Molecular
reagents

All nucleic(50) cDNA(48) Primer pair(2)
Microarray probesets(4)

Other database
links

VEGA Gene Model	OTTMUSG00000036759 (Evidence)
Ensembl Gene Model	ENSMUSG00000024909 (Evidence)
Entrez Gene	58859 (Evidence)
UniGene	276367
DFCI	TC1577784, TC1627337
DoTS	DT.101724323, DT.60118230, DT.91576939, DT.99777476
NIA Mouse Gene Index	U051376
Consensus CDS Project	CCDS29466.1, CCDS50358.1
International Mouse Knockout Project Status	Efemp2

Sequences

All sequences(91) RefSeq(4) UniProt(15)

Polymorphisms

SNPs(25 from dbSNP Build 128)

Protein-related
information

Resource	ID	Description
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	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(44)

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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