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 gen... See more...

Aliases for EFEMP1 Gene

Aliases for EFEMP1 Gene

  • EGF Containing Fibulin Extracellular Matrix Protein 1 2 3 5
  • EGF-Containing Fibulin-Like Extracellular Matrix Protein 1 2 3 4
  • 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
  • GC02M055828
  • 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 Extracellular Matrix Protein 1) is a Protein Coding gene. Diseases associated with EFEMP1 include Doyne Honeycomb Retinal Dystrophy and Inguinal Hernia. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (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 Summary 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

Additional gene information for EFEMP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFEMP1 Gene

Genomics for EFEMP1 Gene

GeneHancer (GH) Regulatory Elements for EFEMP1 Gene


GeneHancers around EFEMP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFEMP1

Top Transcription factor binding sites by QIAGEN in the EFEMP1 gene promoter:
  • MIF-1
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • Sox5

Genomic Locations for EFEMP1 Gene

Genomic Locations for EFEMP1 Gene
chr2:55,865,962-55,924,163
(GRCh38/hg38)
Size:
58,202 bases
Orientation:
Minus strand
chr2:56,093,097-56,151,298
(GRCh37/hg19)
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

No data available for DME Specific Peptides for EFEMP1 Gene

Domains & Families for EFEMP1 Gene

Gene Families for EFEMP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for EFEMP1 Gene

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFEMP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53670, highly similar to EGF-containing fibulin-like extracellularmatrix protein 1 (B4DW75_HUMAN)
  • Fibulin-3 (FBLN3_HUMAN)

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

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.
GENATLAS Biochemistry:
EGF-containing fibrillin-like extracellular matrix protein 1,expressed in retina and retina pigment epithelium,overexpressed in senescent or quiescent fibroblasts

Phenotypes From GWAS Catalog for EFEMP1 Gene

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:0005201 extracellular matrix structural constituent RCA 20551380
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12620389
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

CRISPR Products

miRNA for EFEMP1 Gene

miRTarBase miRNAs that target EFEMP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFEMP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EFEMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,HDA --
GO:0005615 extracellular space IEA,IDA 20005202
GO:0031012 extracellular matrix TAS 10369267
GO:0062023 colocalizes_with collagen-containing extracellular matrix HDA,IEA 20551380
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with EFEMP1: view

Pathways & Interactions for EFEMP1 Gene

PathCards logo

SuperPathways for EFEMP1 Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Phospholipase-C Pathway
.56
.56
4 Elastic fibre formation
5 Degradation of the extracellular matrix
genes like me logo Genes that share pathways with EFEMP1: view

Pathways by source for EFEMP1 Gene

13 Qiagen pathways for EFEMP1 Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

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 IEA,IDA 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

mRNA/cDNA for EFEMP1 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFEMP1

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

Expression for EFEMP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for EFEMP1 Gene



Protein tissue co-expression partners for EFEMP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with EFEMP1: view

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 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFEMP1 31 30
  • 92.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EFEMP1 31 30
  • 91.82 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFEMP1 31
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFEMP1 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efemp1 17 31 30
  • 88.84 (n)
rat
(Rattus norvegicus)
Mammalia Efemp1 30
  • 87.83 (n)
chicken
(Gallus gallus)
Aves EFEMP1 31 30
  • 78.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFEMP1 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efemp1 30
  • 69.43 (n)
zebrafish
(Danio rerio)
Actinopterygii EFEMP1 (1 of 2) 31
  • 65 (a)
OneToMany
LOC100332567 30
  • 62.85 (n)
EFEMP1 (2 of 2) 31
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31999 31
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fbl-1 31
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EFEMP1: view image

Paralogs for EFEMP1 Gene

Paralogs for EFEMP1 Gene

(19) SIMAP similar genes for EFEMP1 Gene using alignment to 10 proteins:

  • FBLN3_HUMAN
  • B4DW75_HUMAN
  • C9J4H7_HUMAN
  • C9J4J8_HUMAN
  • C9J8S9_HUMAN
  • C9JPZ9_HUMAN
  • C9JQX7_HUMAN
  • C9JUM4_HUMAN
  • Q53TA7_HUMAN
  • Q580Q6_HUMAN
genes like me logo Genes that share paralogs with EFEMP1: view

Variants for EFEMP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFEMP1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
655652 Uncertain Significance: not provided 55,918,019(-) A/G MISSENSE_VARIANT
691884 Pathogenic: Diverticulum of bladder; Inguinal hernia; Tall stature; Dolichocephaly; Arachnodactyly; Generalized hypotonia; Joint hypermobility; Scoliosis; Accelerated skeletal maturation; Ectropion of lower eyelids; Severe Myopia; Posterolateral diaphragmatic hernia; Pulmonary bulla; Dural ectasia 55,917,857(-) TTGCCA/T FRAMESHIFT_VARIANT
691885 Pathogenic: Diverticulum of bladder; Inguinal hernia; Tall stature; Dolichocephaly; Arachnodactyly; Generalized hypotonia; Joint hypermobility; Scoliosis; Accelerated skeletal maturation; Ectropion of lower eyelids; Severe Myopia; Posterolateral diaphragmatic hernia; Pulmonary bulla; Dural ectasia 55,881,637(-) A/T NONSENSE
726660 Benign: not provided 55,917,885(-) G/A SYNONYMOUS_VARIANT
rs10167115 Benign: Doyne honeycomb retinal dystrophy 55,923,714(-) T/C FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for EFEMP1 Gene

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)

Additional Variant Information 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

(20) MalaCards diseases for EFEMP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
doyne honeycomb retinal dystrophy
  • dhrd
inguinal hernia
  • hernia inguinal
bladder diverticulum
  • diverticulum - bladder
hypermobile ehlers-danlos syndrome
  • ehlers-danlos syndrome, hypermobility type
marden-walker syndrome
  • mws
- 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.

Additional Disease Information for EFEMP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CG … Weber BH (Ophthalmic genetics 2001) 3 4 23 41 54
  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 23 54
  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 biology : journal of the International Society for Matrix Biology 2009) 3 4 23 54
  4. Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion. (PMID: 19887559) Hu B … Viapiano MS (Molecular cancer research : MCR 2009) 3 4 23 54
  5. EFEMP1 binds the EGF receptor and activates MAPK and Akt pathways in pancreatic carcinoma cells. (PMID: 19804359) Camaj P … Bruns CJ (Biological chemistry 2009) 3 4 23 54

Products for EFEMP1 Gene

Sources for EFEMP1 Gene