EFEMP2 gene homepage

General information
Gene symbol EFEMP2
Gene name EGF containing fibulin-like extracellular matrix protein 2
Chromosome 11
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_012304.2
Transcript reference NM_016938.4
Exon/intron information NM_016938.4 exon/intron table
Associated with diseases ARCL-1B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Zsolt Urban
Total number of public variants reported 65
Unique public DNA variants reported 45
Individuals with public variants 2
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated December 06, 2019
Version EFEMP2:191206

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_016938.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/EFEMP2
External URL Orphanet
HGNC 3219
Entrez Gene 30008
PubMed articles EFEMP2
OMIM - Gene 604633
OMIM - Diseases ARCL-1B (cutis laxa, autosomal recessive, type 1B (ARCL-1B))
HGMD EFEMP2
GeneCards EFEMP2
GeneTests EFEMP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006904 11 transcript variant 1 NM_016938.4 NP_058634.4 65


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