Mus musculus Gene: Efemp2
Summary
InnateDB Gene IDBG-131786.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Efemp2
Gene Name epidermal growth factor-containing fibulin-like extracellular matrix protein 2
Synonyms 0610011K11Rik; Fbln4; MBP1
Species Mus musculus
Ensembl Gene ENSMUSG00000024909
Encoded Proteins
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000172638:
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:5473973-5481853
Strand Forward strand
Band A
Transcripts
ENSMUST00000070118 ENSMUSP00000064719
ENSMUST00000167304 ENSMUSP00000129982
ENSMUST00000166303 ENSMUSP00000128827
ENSMUST00000165485 ENSMUSP00000133016
ENSMUST00000166558
ENSMUST00000166253 ENSMUSP00000127312
ENSMUST00000167371 ENSMUSP00000129746
ENSMUST00000167855 ENSMUSP00000132194
ENSMUST00000167920
ENSMUST00000169943 ENSMUSP00000126477
ENSMUST00000164204 ENSMUSP00000128414
ENSMUST00000167827 ENSMUSP00000127478
ENSMUST00000164388 ENSMUSP00000131979
ENSMUST00000168330 ENSMUSP00000130003
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.
Predicted by orthology
Total 44 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004888 transmembrane signaling receptor activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0007165 signal transduction
GO:0007596 blood coagulation
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Elastic fibre formation pathway
Molecules associated with elastic fibres pathway
Extracellular matrix organization pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Molecules associated with elastic fibres pathway
Elastic fibre formation pathway
Extracellular matrix organization pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E9PYW6
UniProt Splice Variant
Entrez Gene 58859
UniGene Mm.276367 Mm.402293
RefSeq NM_001164352 NM_021474 XM_006531806 XM_006531808 XM_006531810 XM_006531811
OMIM
CCDS CCDS29466 CCDS50358
HPRD
IMGT
MGI ID MGI:1891209
MGI Symbol Efemp2
EMBL AC126029
GenPept
RNA Seq Atlas 58859