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Aliases for EFEMP2 Gene

Aliases for EFEMP2 Gene

  • EGF Containing Fibulin Like Extracellular Matrix Protein 2 2 3 5
  • EGF-Containing Fibulin-Like Extracellular Matrix Protein 2 2 3
  • Fibulin 4 2 3
  • FIBL-4 3 4
  • FBLN4 3 4
  • Mutant P53 Binding Protein 1 3
  • Protein UPH1 4
  • Fibulin-4 4
  • ARCL1B 3
  • MBP1 3
  • UPH1 3

External Ids for EFEMP2 Gene

Previous GeneCards Identifiers for EFEMP2 Gene

  • GC11M068168
  • GC11M067315
  • GC11M065884
  • GC11M065409
  • GC11M065390
  • GC11M065633
  • GC11M061960

Summaries for EFEMP2 Gene

Entrez Gene Summary for EFEMP2 Gene

  • A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for EFEMP2 Gene

EFEMP2 (EGF Containing Fibulin Like Extracellular Matrix Protein 2) is a Protein Coding gene. Diseases associated with EFEMP2 include Cutis Laxa, Autosomal Recessive, Type Ib and Efemp2-Related Cutis Laxa. Among its related pathways are Elastic fibre formation and Phospholipase-C Pathway. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is EFEMP1.

Gene Wiki entry for EFEMP2 Gene

Additional gene information for EFEMP2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFEMP2 Gene

Genomics for EFEMP2 Gene

Regulatory Elements for EFEMP2 Gene

Enhancers for EFEMP2 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
GH11H065886 1.9 FANTOM5 ENCODE dbSUPER 17.7 -21.9 -21867 18.4 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D SNX32 RBM14 ENSG00000258297 ENSG00000254461 MUS81 SART1 CTSW KAT5 SF3B2 EIF1AD
GH11H065470 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.9 +383.5 383509 40 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MCM3 SF1 ZFPL1 POLA2 LOC105369352 SART1 PCNX3 EIF1AD KAT5 SF3B2 MUS81
GH11H065095 1.2 ENCODE 18.2 +776.9 776900 2.2 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D GLIS1 ZFPL1 SF1 FAU TRMT112 LTBP3 SF3B2 KAT5 SART1 SCYL1 EFEMP2
GH11H065851 1.4 ENCODE dbSUPER 15.2 +16.1 16108 12.2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC SART1 ENSG00000258297 RBM14 EIF1AD KAT5 POLA2 PCNX3 ZFPL1 SF3B2 SNX32
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EFEMP2 on UCSC Golden Path with GeneCards custom track

Promoters for EFEMP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040899 592 2001 HDGF ATF1 MLX ZFP64 ARID4B SIN3A ZNF121 GLIS2 ZNF143 ZNF207

Genomic Locations for EFEMP2 Gene

Genomic Locations for EFEMP2 Gene
7,152 bases
Minus strand

Genomic View for EFEMP2 Gene

Genes around EFEMP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFEMP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFEMP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFEMP2 Gene

Proteins for EFEMP2 Gene

  • Protein details for EFEMP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    EGF-containing fibulin-like extracellular matrix protein 2
    Protein Accession:
    Secondary Accessions:
    • A8K7R4
    • B3KM31
    • B3KQT1
    • O75967

    Protein attributes for EFEMP2 Gene

    443 amino acids
    Molecular mass:
    49405 Da
    Quaternary structure:
    • Interacts with FBN1 (via N-terminal domain) (PubMed:17255108).

    Three dimensional structures from OCA and Proteopedia for EFEMP2 Gene

neXtProt entry for EFEMP2 Gene

Post-translational modifications for EFEMP2 Gene

  • Glycosylation at isoforms=198 and posLast=394394
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EFEMP2 Gene

Domains & Families for EFEMP2 Gene

Gene Families for EFEMP2 Gene

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

Suggested Antigen Peptide Sequences for EFEMP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the fibulin family.
  • Belongs to the fibulin family.
genes like me logo Genes that share domains with EFEMP2: view

Function for EFEMP2 Gene

Molecular function for EFEMP2 Gene

GENATLAS Biochemistry:
EGF-containing fibrillin-like extracellular matrix protein 2,expressed in both fetal and adult retina in fetal brain,kidney and heart,EFEMP1 paralog

Phenotypes From GWAS Catalog for EFEMP2 Gene

Gene Ontology (GO) - Molecular Function for EFEMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 10601734
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with EFEMP2: view
genes like me logo Genes that share phenotypes with EFEMP2: view

Human Phenotype Ontology for EFEMP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EFEMP2 Gene

MGI Knock Outs for EFEMP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EFEMP2 Gene

Localization for EFEMP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFEMP2 Gene


Subcellular locations from

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 EFEMP2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
lysosome 1

Gene Ontology (GO) - Cellular Components for EFEMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane TAS 10601734
GO:0070062 extracellular exosome IDA 19199708
GO:1903561 extracellular vesicle IDA 24769233
genes like me logo Genes that share ontologies with EFEMP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EFEMP2 Gene

Pathways & Interactions for EFEMP2 Gene

genes like me logo Genes that share pathways with EFEMP2: view

Gene Ontology (GO) - Biological Process for EFEMP2 Gene


No data available for SIGNOR curated interactions for EFEMP2 Gene

Drugs & Compounds for EFEMP2 Gene

No Compound Related Data Available

Transcripts for EFEMP2 Gene

Unigene Clusters for EFEMP2 Gene

EGF containing fibulin-like extracellular matrix protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFEMP2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12
SP1: - - - - -
SP2: - - -
SP4: - - - -
SP5: - - -
SP6: - -

Relevant External Links for EFEMP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EFEMP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFEMP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EFEMP2 Gene

This gene is overexpressed in Gallbladder (20.4), Ovary (9.6), and Uterus (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EFEMP2 Gene

Protein tissue co-expression partners for EFEMP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EFEMP2 Gene:


SOURCE GeneReport for Unigene cluster for EFEMP2 Gene:


Evidence on tissue expression from TISSUES for EFEMP2 Gene

  • Nervous system(4.7)
  • Liver(4.1)
  • Muscle(2.5)
  • Skin(2.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EFEMP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • aorta
  • chest wall
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
  • placenta
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with EFEMP2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EFEMP2 Gene

Orthologs for EFEMP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFEMP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EFEMP2 33 34
  • 99.55 (n)
(Bos Taurus)
Mammalia EFEMP2 33 34
  • 90.97 (n)
(Canis familiaris)
Mammalia EFEMP2 33 34
  • 90.97 (n)
(Mus musculus)
Mammalia Efemp2 33 16 34
  • 88.34 (n)
(Rattus norvegicus)
Mammalia Efemp2 33
  • 88.11 (n)
(Ornithorhynchus anatinus)
Mammalia EFEMP2 34
  • 82 (a)
(Monodelphis domestica)
Mammalia EFEMP2 34
  • 69 (a)
(Anolis carolinensis)
Reptilia EFEMP2 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia efemp2 33
  • 70.63 (n)
Str.16372 33
(Danio rerio)
Actinopterygii efemp2a 34
  • 69 (a)
efemp2b 34 34
  • 65 (a)
wufb22f10 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3862 33
fruit fly
(Drosophila melanogaster)
Insecta CG31999 34
  • 17 (a)
(Caenorhabditis elegans)
Secernentea fbl-1 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 12 (a)
Species where no ortholog for EFEMP2 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 EFEMP2 Gene

Gene Tree for EFEMP2 (if available)
Gene Tree for EFEMP2 (if available)

Paralogs for EFEMP2 Gene

Paralogs for EFEMP2 Gene

genes like me logo Genes that share paralogs with EFEMP2: view

Variants for EFEMP2 Gene

Sequence variations from dbSNP and Humsavar for EFEMP2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs119489101 Pathogenic, Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] 65,871,355(-) TCAAC(A/G)AGTGT nc-transcript-variant, reference, missense
rs119489102 Pathogenic, Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] 65,868,522(-) CCACA(C/T)GCCTC nc-transcript-variant, reference, missense
rs193302866 Pathogenic, Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] 65,868,557(-) CTCCT(A/G)CCACT nc-transcript-variant, reference, missense
rs193302864 Pathogenic 65,869,976(-) CCCAG(A/C)TGTGA nc-transcript-variant, reference, missense
rs193302865 Pathogenic 65,867,957(-) CCCGC(-/CCGC)TGACG nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for EFEMP2 Gene

Variant ID Type Subtype PubMed ID
nsv832191 CNV loss 17160897
nsv555215 CNV loss 21841781
nsv1159905 CNV duplication 26073780
esv999644 CNV deletion 20482838
esv2759834 CNV gain 17122850

Variation tolerance for EFEMP2 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFEMP2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFEMP2 Gene

Disorders for EFEMP2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for EFEMP2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cutis laxa, autosomal recessive, type ib
  • arcl1b
efemp2-related cutis laxa
  • autosomal recessive cutis laxa type 1b
lethal arteriopathy syndrome due to fibulin-4 deficiency
cutis laxa, autosomal recessive, type ia
  • cutis laxa, autosomal recessive, 1a
cutis laxa, autosomal recessive type 1
  • cutis laxa, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards


  • Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. {ECO:0000269 PubMed:16685658, ECO:0000269 PubMed:17937443, ECO:0000269 PubMed:19664000}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EFEMP2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EFEMP2: view

No data available for Genatlas for EFEMP2 Gene

Publications for EFEMP2 Gene

  1. Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. (PMID: 10982184) Katsanis N … Lupski JR (Human genetics 2000) 2 3 4 22 60
  2. Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. (PMID: 10601734) Giltay R … Kostka G (Matrix biology : journal of the International Society for Matrix Biology 1999) 2 3 4 22 60
  3. Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. (PMID: 17255108) El-Hallous E … Reinhardt DP (The Journal of biological chemistry 2007) 3 4 22 60
  4. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. (PMID: 16685658) Hucthagowder V … Urban Z (American journal of human genetics 2006) 3 4 22 60
  5. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva LK … Teixeira MG (European journal of human genetics : EJHG 2010) 3 45 60

Products for EFEMP2 Gene

Sources for EFEMP2 Gene