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Aliases for EFEMP1 Gene

Aliases for EFEMP1 Gene

  • EGF Containing Fibulin Like Extracellular Matrix Protein 1 2 3 5
  • EGF-Containing Fibulin-Like Extracellular Matrix Protein 1 2 3
  • Extracellular Protein S1-5 3 4
  • Fibulin-3 3 4
  • FIBL-3 3 4
  • FBLN3 3 4
  • FBNL 3 4
  • Fibrillin-Like Protein 4
  • Fibrillin-Like 2
  • Fibulin 3 2
  • DRAD 3
  • MLVT 3
  • MTLV 3
  • S1-5 3
  • DHRD 3

External Ids for EFEMP1 Gene

Previous HGNC Symbols for EFEMP1 Gene

  • DHRD
  • FBNL

Previous GeneCards Identifiers for EFEMP1 Gene

  • GC02M056130
  • GC02M056279
  • GC02M056067
  • GC02M056004
  • GC02M056093

Summaries for EFEMP1 Gene

Entrez Gene Summary for EFEMP1 Gene

  • This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

GeneCards Summary for EFEMP1 Gene

EFEMP1 (EGF Containing Fibulin Like Extracellular Matrix Protein 1) is a Protein Coding gene. Diseases associated with EFEMP1 include Doyne Honeycomb Degeneration Of Retina and Familial Drusen. Among its related pathways are Phospholipase-C Pathway and Integrin Pathway. GO annotations related to this gene include calcium ion binding and epidermal growth factor receptor binding. An important paralog of this gene is EFEMP2.

UniProtKB/Swiss-Prot for EFEMP1 Gene

  • Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.

Gene Wiki entry for EFEMP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFEMP1 Gene

Genomics for EFEMP1 Gene

Regulatory Elements for EFEMP1 Gene

Enhancers for EFEMP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G055884 1.4 Ensembl ENCODE dbSUPER 18.3 +37.6 37552 6.6 RFX5 GATA2 SMARCC2 RCOR1 FOS SMARCC1 USF2 CEBPB ZEB2 ZNF518A EFEMP1 ENSG00000240401 RN7SKP208 GC02P055762
GH02G055841 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.6 +81.5 81462 3.4 PKNOX1 FOXA2 ATF1 SIN3A FEZF1 ZNF2 ZNF302 GATA2 FOS KLF7 LOC100128027 CFAP36 EFEMP1 ENSG00000240401 GC02P055762
GH02G055991 1.3 Ensembl ENCODE dbSUPER 10.4 -68.7 -68681 2.5 JUN MAX BRCA1 RFX5 GATA2 POLR2A RCOR1 FOS MAFK NFE2L2 EFEMP1 MIR216A GC02P056001
GH02G055838 1.5 Ensembl ENCODE dbSUPER 8.6 +84.7 84680 2.3 FOXA2 ARID4B SIN3A FEZF1 DMAP1 YY1 SP5 ZHX2 PPARG KAT8 EFEMP1 ENSG00000240401 PPP4R3B GC02P055762
GH02G055957 1.1 Ensembl ENCODE 11.7 -34.5 -34522 1.4 PKNOX1 SIN3A RAD21 RFX5 ZNF335 GLIS2 SCRT2 RCOR1 DEK ZNF263 EFEMP1 MIR217 MIR216A ENSG00000240401 ENSG00000272180 GC02P055982
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EFEMP1 on UCSC Golden Path with GeneCards custom track

Promoters for EFEMP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117404 963 2001 SIN3A RAD21 GLIS2 GATA2 ZNF366 SCRT2 SP3 ZEB2 ZNF398 CBX8

Genomic Location for EFEMP1 Gene

Chromosome:
2
Start:
55,865,962 bp from pter
End:
55,924,163 bp from pter
Size:
58,202 bases
Orientation:
Minus strand

Genomic View for EFEMP1 Gene

Genes around EFEMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFEMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFEMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFEMP1 Gene

Proteins for EFEMP1 Gene

  • Protein details for EFEMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12805-FBLN3_HUMAN
    Recommended name:
    EGF-containing fibulin-like extracellular matrix protein 1
    Protein Accession:
    Q12805
    Secondary Accessions:
    • A8K3I4
    • B4DW75
    • D6W5D2
    • Q541U7

    Protein attributes for EFEMP1 Gene

    Size:
    493 amino acids
    Molecular mass:
    54641 Da
    Quaternary structure:
    • Interacts with ECM1. Interacts with TIMP3.
    Miscellaneous:
    • Up-regulated in malignant gliomas. May increase glioma cell adhesiveness and invasive properties.

    Alternative splice isoforms for EFEMP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFEMP1 Gene

Post-translational modifications for EFEMP1 Gene

  • Glycosylation at Asn249
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for EFEMP1 Gene

Domains & Families for EFEMP1 Gene

Gene Families for EFEMP1 Gene

Suggested Antigen Peptide Sequences for EFEMP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q12805

UniProtKB/Swiss-Prot:

FBLN3_HUMAN :
  • Belongs to the fibulin family.
Family:
  • Belongs to the fibulin family.
genes like me logo Genes that share domains with EFEMP1: view

Function for EFEMP1 Gene

Molecular function for EFEMP1 Gene

GENATLAS Biochemistry:
EGF-containing fibrillin-like extracellular matrix protein 1,expressed in retina and retina pigment epithelium,overexpressed in senescent or quiescent fibroblasts
UniProtKB/Swiss-Prot Function:
Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth.

Gene Ontology (GO) - Molecular Function for EFEMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005006 epidermal growth factor-activated receptor activity IDA 19804359
GO:0005154 epidermal growth factor receptor binding IDA 19804359
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12620389
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with EFEMP1: view
genes like me logo Genes that share phenotypes with EFEMP1: view

Human Phenotype Ontology for EFEMP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EFEMP1 Gene

MGI Knock Outs for EFEMP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for EFEMP1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for EFEMP1 Gene

Localization for EFEMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFEMP1 Gene

Secreted, extracellular space. Secreted, extracellular space, extracellular matrix. Note=Localizes to the lamina propria underneath the olfactory epithelium. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EFEMP1 gene
Compartment Confidence
extracellular 5
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EFEMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix TAS,IEA --
GO:0005615 extracellular space IEA,IDA 16502470
GO:0031012 colocalizes_with extracellular matrix IEA,IDA 20551380
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with EFEMP1: view

Pathways & Interactions for EFEMP1 Gene

genes like me logo Genes that share pathways with EFEMP1: view

Gene Ontology (GO) - Biological Process for EFEMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IDA 20005202
GO:0007173 epidermal growth factor receptor signaling pathway IDA,IEA 19804359
GO:0007601 visual perception TAS 10369267
GO:0018108 peptidyl-tyrosine phosphorylation IDA 19804359
GO:0032331 negative regulation of chondrocyte differentiation IDA 20005202
genes like me logo Genes that share ontologies with EFEMP1: view

No data available for SIGNOR curated interactions for EFEMP1 Gene

Drugs & Compounds for EFEMP1 Gene

No Compound Related Data Available

Transcripts for EFEMP1 Gene

Unigene Clusters for EFEMP1 Gene

EGF containing fibulin-like extracellular matrix protein 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFEMP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - -
SP5: - - -
SP6: - -
SP7: - - -
SP8: - - - -
SP9: -

Relevant External Links for EFEMP1 Gene

GeneLoc Exon Structure for
EFEMP1
ECgene alternative splicing isoforms for
EFEMP1

Expression for EFEMP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFEMP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFEMP1 Gene

This gene is overexpressed in Artery - Aorta (x9.3) and Artery - Coronary (x5.9).

Protein differential expression in normal tissues from HIPED for EFEMP1 Gene

This gene is overexpressed in Vitreous humor (18.5), Cerebrospinal fluid (6.9), Synovial fluid (6.2), Urine (6.1), and Skin (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EFEMP1 Gene



Protein tissue co-expression partners for EFEMP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFEMP1 Gene:

EFEMP1

SOURCE GeneReport for Unigene cluster for EFEMP1 Gene:

Hs.76224

mRNA Expression by UniProt/SwissProt for EFEMP1 Gene:

Q12805-FBLN3_HUMAN
Tissue specificity: In the eye, associated with photoreceptor outer and inner segment regions, the nerve fiber layer, outer nuclear layer and inner and outer plexiform layers of the retina.

Evidence on tissue expression from TISSUES for EFEMP1 Gene

  • Lung(4.8)
  • Nervous system(4.5)
  • Skin(4.4)
  • Liver(4.2)
  • Eye(3.1)
  • Heart(2.9)
  • Gall bladder(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EFEMP1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with EFEMP1: view

Primer Products

Orthologs for EFEMP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFEMP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFEMP1 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFEMP1 34 35
  • 92.22 (n)
cow
(Bos Taurus)
Mammalia EFEMP1 34 35
  • 91.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EFEMP1 35
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFEMP1 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efemp1 34 16 35
  • 88.84 (n)
rat
(Rattus norvegicus)
Mammalia Efemp1 34
  • 87.83 (n)
chicken
(Gallus gallus)
Aves EFEMP1 34 35
  • 78.44 (n)
lizard
(Anolis carolinensis)
Reptilia EFEMP1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efemp1 34
  • 69.43 (n)
zebrafish
(Danio rerio)
Actinopterygii EFEMP1 (1 of 2) 35
  • 65 (a)
OneToMany
LOC100332567 34
  • 62.85 (n)
EFEMP1 (2 of 2) 35
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31999 35
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fbl-1 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 12 (a)
OneToMany
Species where no ortholog for EFEMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EFEMP1 Gene

ENSEMBL:
Gene Tree for EFEMP1 (if available)
TreeFam:
Gene Tree for EFEMP1 (if available)

Paralogs for EFEMP1 Gene

Paralogs for EFEMP1 Gene

genes like me logo Genes that share paralogs with EFEMP1: view

Variants for EFEMP1 Gene

Sequence variations from dbSNP and Humsavar for EFEMP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121434491 Pathogenic, Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600] 55,871,091(-) AATGC(C/T)GGGAG reference, missense
rs138843899 Likely benign 55,866,386(+) TCTCA(A/G)TAGTA utr-variant-3-prime
rs143361440 Likely benign 55,923,750(+) CGAGG(A/G)GAGTG reference, synonymous-codon, utr-variant-5-prime
rs146101049 Likely benign 55,866,273(+) CTTGT(A/G)GAAGT utr-variant-3-prime
rs146446706 Likely benign 55,870,880(+) GTTCT(C/T)GGCAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for EFEMP1 Gene

Variant ID Type Subtype PubMed ID
esv3307790 CNV mobile element insertion 20981092
esv3392665 CNV insertion 20981092
esv3575244 CNV gain 25503493
esv3583831 CNV loss 25503493
esv3892437 CNV loss 25118596
nsv2736 CNV insertion 18451855
nsv819764 CNV loss 19587683

Variation tolerance for EFEMP1 Gene

Residual Variation Intolerance Score: 17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFEMP1 Gene

Human Gene Mutation Database (HGMD)
EFEMP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFEMP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFEMP1 Gene

Disorders for EFEMP1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for EFEMP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
doyne honeycomb degeneration of retina
  • doyne honeycomb retinal dystrophy
familial drusen
  • dhrd
pleural cancer
  • neoplasm of pleura
retinal drusen
wolfram syndrome
  • wolfram syndrome 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FBLN3_HUMAN
  • Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]: Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. {ECO:0000269 PubMed:10369267, ECO:0000269 PubMed:11384588, ECO:0000269 PubMed:12242346, ECO:0000269 PubMed:17666404}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EFEMP1

Genetic Association Database (GAD)
EFEMP1
Human Genome Epidemiology (HuGE) Navigator
EFEMP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFEMP1
genes like me logo Genes that share disorders with EFEMP1: view

No data available for Genatlas for EFEMP1 Gene

Publications for EFEMP1 Gene

  1. EFEMP1 is not associated with sporadic early onset drusen. (PMID: 11262647) Sauer C.G. … Weber B.H. (Ophthalmic Genet. 2001) 3 4 22 46 64
  2. Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin. (PMID: 8812496) Ikegawa S. … Nakamura Y. (Genomics 1996) 2 3 4 22 64
  3. ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain. (PMID: 19275936) Sercu S. … Merregaert J. (Matrix Biol. 2009) 3 4 22 64
  4. EFEMP1 binds the EGF receptor and activates MAPK and Akt pathways in pancreatic carcinoma cells. (PMID: 19804359) Camaj P. … Bruns C.J. (Biol. Chem. 2009) 3 4 22 64
  5. Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion. (PMID: 19887559) Hu B. … Viapiano M.S. (Mol. Cancer Res. 2009) 3 4 22 64

Products for EFEMP1 Gene

Sources for EFEMP1 Gene

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