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Gene: EFEMP2 (EGF containing fibulin extracellular matrix protein 2) Homo sapiens
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Symbol: EFEMP2
Name: EGF containing fibulin extracellular matrix protein 2
Description: Predicted to have calcium ion binding activity and extracellular matrix structural constituent. Predicted to be involved in artery development. Localizes to collagen-containing extracellular matrix and extracellular exosome. Implicated in autosomal recessive cutis laxa type IB.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARCL1B; EGF containing fibulin like extracellular matrix protein 2; EGF containing fibulin-like extracellular matrix protein 2; EGF-containing fibulin-like extracellular matrix protein 2; FBLN4; FIBL-4; fibulin 4; fibulin-4; MBP1; mutant p53 binding protein 1; UPH1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1165,866,441 - 65,873,592 (-)EnsemblGRCh38hg38GRCh38
GRCh381165,866,441 - 65,872,800 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371165,633,912 - 65,640,405 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361165,390,488 - 65,396,852 (-)NCBINCBI36hg18NCBI36
Build 341165,390,494 - 65,396,793NCBI
Celera1162,957,818 - 62,964,246 (-)NCBI
Cytogenetic Map11q13.1NCBI
HuRef1161,960,429 - 61,966,923 (-)NCBIHuRef
CHM1_11165,518,326 - 65,524,819 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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References - uncurated

Genomics

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Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on EFEMP2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1349728
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.