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

Mammalian homology

human; cattle; chimpanzee; dog, domestic; hamster, Chinese    (Mammalian Orthology)
Comparative Map (Mouse/Human Efemp2 ± 2 cM)

Gene Tree: Efemp2

Human ortholog

EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 NCBI Gene ID 30008
Human Synonyms: ARCL1B, FBLN4, MBP1, UPH1
Human Chr11:65633912-65640340 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human EFEMP2 (1)

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

Length	Strain/Species
genomic	OTTMUSG00000036759	VEGA Gene Model | MGI Sequence Detail	7881	C57BL/6J
transcript	OTTMUST00000094317	VEGA | MGI Sequence Detail	1781	Not Applicable
polypeptide	OTTMUSP00000052424	VEGA | MGI Sequence Detail	462	Not Applicable

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