Gene table of EFEMP2 : EGF containing fibulin like extracellular matrix protein 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with EFEMP2OMIM linkNumber of associated genesgenes
219100CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IAClinVar link to OMIM 2EFEMP2, FBLN5
614437CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IBClinVar, OMIM, HUMSAVAR link to OMIM 1EFEMP2

Download the gene annotation in CSV format

Annotation of the gene EFEMP2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Elastic fibre formationR-HSA-15669487.49
Extracellular matrix organizationR-HSA-14742444.91
Molecules associated with elastic fibresR-HSA-21293797.73
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
extracellular matrix structural constituentGO:00052015.37
metal ion bindingGO:00468721.41
ion bindingGO:00431671.36
bindingGO:00054880.18
protein bindingGO:00055150.46
structural molecule activityGO:00051983.1
calcium ion bindingGO:00055093.17
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<type 'exceptions.KeyError'>		Python 2.7.9: /usr/bin/python
Tue Dec 9 14:43:00 2025

A problem occurred in a Python script. Here is the sequence of function calls leading up to the error, in the order they occurred.

 /usr/lib/cgi-bin/gene_disease_db/gene.py in ()
    475 kegg_ann(gene)
    476 react_ann(gene)
=>  477 GOBPs,GOCCs=GO_ann(gene)
    478 if make_file==True:
    479         outcsv.close()
GOBPs undefined, GOCCs undefined, GO_ann = <function GO_ann>, gene = 'EFEMP2'
 /usr/lib/cgi-bin/gene_disease_db/gene.py in GO_ann(gene='EFEMP2')
    345           print '<summary id="missing"> Associated GO terms for '+root2root_names[root]+' </summary>'
    346     print '</details>'
=>  347     return root2GO["biological_process"],root2GO["cellular_component"]
    348 
    349 def kegg_ann(gene):
root2GO = {'cellular_component': set(['GO:0005576', 'GO:0005604', 'GO:0031982', 'GO:0031988', 'GO:0043226', 'GO:0043227', ...]), 'molecular_function': set(['GO:0005198', 'GO:0005201', 'GO:0005488', 'GO:0005509', 'GO:0005515', 'GO:0043167', ...])}

<type 'exceptions.KeyError'>: 'biological_process'
      args = ('biological_process',)
      message = 'biological_process'