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 ... See more...

Aliases for EFEMP2 Gene

Aliases for EFEMP2 Gene

  • EGF Containing Fibulin Extracellular Matrix Protein 2 2 3 5
  • EGF-Containing Fibulin-Like Extracellular Matrix Protein 2 2 3 4
  • FBLN4 2 3 4
  • EGF Containing Fibulin Like Extracellular Matrix Protein 2 2 3
  • Fibulin 4 2 3
  • FIBL-4 3 4
  • UPH1 2 3
  • Mutant P53 Binding Protein 1 3
  • Protein UPH1 4
  • Fibulin-4 4
  • ARCL1B 3
  • EFEMP2 5
  • MBP1 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 Extracellular Matrix Protein 2) is a Protein Coding gene. Diseases associated with EFEMP2 include Cutis Laxa, Autosomal Recessive, Type Ib and Autosomal Recessive Cutis Laxa Type I. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (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

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFEMP2 Gene

Genomics for EFEMP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EFEMP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFEMP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFEMP2

Top Transcription factor binding sites by QIAGEN in the EFEMP2 gene promoter:
  • Arnt
  • ATF-2
  • c-Jun
  • FAC1
  • IRF-1
  • NF-1
  • p53
  • PPAR-alpha
  • Roaz

Genomic Locations for EFEMP2 Gene

Genomic Locations for EFEMP2 Gene
chr11:65,866,441-65,873,592
(GRCh38/hg38)
Size:
7,152 bases
Orientation:
Minus strand
chr11:65,633,912-65,641,063
(GRCh37/hg19)
Size:
7,152 bases
Orientation:
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:
    O95967-FBLN4_HUMAN
    Recommended name:
    EGF-containing fibulin-like extracellular matrix protein 2
    Protein Accession:
    O95967
    Secondary Accessions:
    • A8K7R4
    • B3KM31
    • B3KQT1
    • O75967

    Protein attributes for EFEMP2 Gene

    Size:
    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 Asn198 and Asn394
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FBLN4_HUMAN (1199)

No data available for DME Specific Peptides for EFEMP2 Gene

Domains & Families for EFEMP2 Gene

Gene Families for EFEMP2 Gene

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

Protein Domains for EFEMP2 Gene

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

Suggested Antigen Peptide Sequences for EFEMP2 Gene

GenScript: Design optimal peptide antigens:
  • Protein UPH1 (FBLN4_HUMAN)
  • EFEMP2 protein (Q6FH22_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95967

UniProtKB/Swiss-Prot:

FBLN4_HUMAN :
  • Belongs to the fibulin family.
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,RCA 28327460
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

  • Taconic Biosciences Mouse Models for EFEMP2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFEMP2

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

Secreted.

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 EFEMP2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1
lysosome 0

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:0005615 extracellular space IEA --
GO:0062023 collagen-containing extracellular matrix HDA 28327460
GO:0070062 extracellular exosome HDA 19199708
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

PathCards logo

SuperPathways for EFEMP2 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 EFEMP2: view

Pathways by source for EFEMP2 Gene

13 Qiagen pathways for EFEMP2 Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

SIGNOR curated interactions for EFEMP2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for EFEMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048251 elastic fiber assembly IEA --
genes like me logo Genes that share ontologies with EFEMP2: view

Drugs & Compounds for EFEMP2 Gene

No Compound Related Data Available

Transcripts for EFEMP2 Gene

mRNA/cDNA for EFEMP2 Gene

1 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
20 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 EFEMP2

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: - - -
SP3:
SP4: - - - -
SP5: - - -
SP6: - -

Relevant External Links for EFEMP2 Gene

GeneLoc Exon Structure for
EFEMP2

Expression for EFEMP2 Gene

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



Protein tissue co-expression partners for EFEMP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFEMP2

SOURCE GeneReport for Unigene cluster for EFEMP2 Gene:

Hs.731454

Evidence on tissue expression from TISSUES for EFEMP2 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Muscle(3)
  • Heart(2.8)
  • Lung(2.4)
  • Skin(2.2)
  • Intestine(2.2)
  • Kidney(2.1)

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

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

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
Chimpanzee
(Pan troglodytes)
Mammalia EFEMP2 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EFEMP2 30 31
  • 90.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EFEMP2 30 31
  • 90.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Efemp2 30 17 31
  • 88.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Efemp2 30
  • 88.11 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EFEMP2 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EFEMP2 31
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EFEMP2 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia efemp2 30
  • 70.63 (n)
Str.16372 30
Zebrafish
(Danio rerio)
Actinopterygii efemp2a 31
  • 69 (a)
OneToMany
efemp2b 31 31
  • 65 (a)
OneToMany
wufb22f10 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3862 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG31999 31
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea fbl-1 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 12 (a)
OneToMany
Species where no ortholog for EFEMP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for EFEMP2 (if available)
TreeFam:
Gene Tree for EFEMP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFEMP2: view image

Paralogs for EFEMP2 Gene

Paralogs for EFEMP2 Gene

(10) SIMAP similar genes for EFEMP2 Gene using alignment to 12 proteins:

  • FBLN4_HUMAN
  • E9PI47_HUMAN
  • E9PKA3_HUMAN
  • E9PNB8_HUMAN
  • E9PRQ8_HUMAN
  • E9PRU1_HUMAN
  • E9PSC1_HUMAN
  • H0YCB5_HUMAN
  • H0YCR9_HUMAN
  • H0YET5_HUMAN
  • H0YEU0_HUMAN
  • Q6FH22_HUMAN
genes like me logo Genes that share paralogs with EFEMP2: view

Variants for EFEMP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFEMP2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
639183 Uncertain Significance: Autosomal recessive cutis laxa type 1B 65,871,175(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
646814 Uncertain Significance: Autosomal recessive cutis laxa type 1B 65,870,174(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
648809 Uncertain Significance: Autosomal recessive cutis laxa type 1B 65,871,244(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
650013 Uncertain Significance: Autosomal recessive cutis laxa type 1B 65,871,265(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
650033 Uncertain Significance: Autosomal recessive cutis laxa type 1B 65,871,288(-) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for EFEMP2 Gene

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

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

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)

Additional Variant Information for EFEMP2 Gene

Human Gene Mutation Database (HGMD)
EFEMP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFEMP2

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

Disorders for EFEMP2 Gene

MalaCards: The human disease database

(28) MalaCards diseases for EFEMP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FBLN4_HUMAN
  • 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.

Additional Disease Information for EFEMP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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 23
  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 23
  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 23
  5. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva LK … Teixeira MG (European journal of human genetics : EJHG 2010) 3 41

Products for EFEMP2 Gene

Sources for EFEMP2 Gene