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Gene: EFEMP1 (EGF containing fibulin extracellular matrix protein 1) Homo sapiens
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Symbol: EFEMP1
Name: EGF containing fibulin extracellular matrix protein 1
Description: Exhibits epidermal growth factor receptor binding activity and epidermal growth factor-activated receptor activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; eye development; and negative regulation of chondrocyte differentiation. Localizes to extracellular space. Implicated in Doyne honeycomb retinal dystrophy. Biomarker of Doyne honeycomb retinal dystrophy; adenoma; hepatocellular carcinoma; macular degeneration; and malignant glioma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DHRD; DRAD; EGF containing fibulin like extracellular matrix protein 1; EGF containing fibulin-like extracellular matrix protein 1; EGF-containing fibulin-like extracellular matrix protein 1; extracellular protein S1-5; FBLN3; FBNL; FIBL-3; fibrillin-like protein; fibulin 3; fibulin-3; FLJ35535; MGC111353; MLVT; MTLV; S1-5
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl255,865,967 - 55,924,139 (-)EnsemblGRCh38hg38GRCh38
GRCh38255,865,967 - 55,924,163 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37256,093,097 - 56,151,298 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,946,606 - 56,004,436 (-)NCBINCBI36hg18NCBI36
Build 34256,004,748 - 56,060,856NCBI
Celera255,933,455 - 55,991,286 (-)NCBI
Cytogenetic Map2p16.1NCBI
HuRef255,828,195 - 55,886,081 (-)NCBIHuRef
CHM1_1256,023,033 - 56,081,234 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on EFEMP1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1318351
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-03-24
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.