EGF containing fibulin extracellular matrix protein 2

Summary
Gene Symbol
  • EFEMP2
Organism
Homo sapiens (human)
NCBI Gene
30008
PubChem
30008
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Basement membrane
  • Calcium
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • Extracellular matrix
  • Glycoprotein
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
O95967
  • Fibulin-4
  • Protein UPH1
Q9H3D5
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Kinase
Functional Category
  • J: Translation, ribosomal structure and biogenesis
  • K: Transcription
  • T: Signal transduction mechanisms
Displaying all 4 entries
Gene Ontology
ATP binding
kinase activity
nucleotide binding
phosphorylation
Disease
Disease Ontology
Displaying entries 1 - 10 of 11 in total
DO ID Disease Name Source
DOID:0050645 arterial tortuosity syndrome
DOID:0070133 autosomal recessive cutis laxa type IB
DOID:0080685 aortic dissection
DOID:1380 endometrial cancer
DOID:2394 ovarian cancer
DOID:2893 cervix carcinoma
DOID:3144 cutis laxa
DOID:3347 osteosarcoma
DOID:3376 bone osteosarcoma
DOID:3627 aortic aneurysm

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024