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Gene : EFEMP2 Homo sapiens

Name  ? EGF containing fibulin extracellular matrix protein 2 Cytological Location  11q13.1
Brief Description  EGF containing fibulin extracellular matrix protein 2
Description  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]
  • synonyms:
  • EFEMP2,
  • FBLN4,
  • ARCL1B,
  • OTTHUMG00000166664,
  • EGF containing fibulin like extracellular matrix protein 2,
  • fibulin 4,
  • NM_016938,
  • EGF-containing fibulin-like extracellular matrix protein 2,
  • AF109121,
  • HGNC:3219,
  • MBP1,
  • UPH1,
  • uc001ofy.5,
  • FBLN4,
  • UPH1
  • identifiers:
  • 30008,
  • ENSG00000172638,
  • EFEMP2

Genome feature

Region: gene ? Length: 6360  
Location: 11:65866441-65872800 reverse strand Cyto location: 11q13.1

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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3753 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results