This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provid... See more...

Aliases for FBLN2 Gene

Aliases for FBLN2 Gene

  • Fibulin 2 2 3 5
  • Fibulin-2 3 4
  • FIBL-2 3 4
  • FBLN2 5

External Ids for FBLN2 Gene

Previous GeneCards Identifiers for FBLN2 Gene

  • GC03P013541

Summaries for FBLN2 Gene

Entrez Gene Summary for FBLN2 Gene

  • This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBLN2 Gene

FBLN2 (Fibulin 2) is a Protein Coding gene. Diseases associated with FBLN2 include Familial Osteochondritis Dissecans and Osteochondritis Dissecans. Among its related pathways are Degradation of the extracellular matrix and Cell adhesion_Cell-matrix glycoconjugates. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix binding. An important paralog of this gene is FBLN1.

UniProtKB/Swiss-Prot Summary for FBLN2 Gene

  • Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).

Gene Wiki entry for FBLN2 Gene

Additional gene information for FBLN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBLN2 Gene

Genomics for FBLN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FBLN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J013475 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.2 -70.5 -70493 5.8 CEBPG SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 IKZF1 KDM1A HDAC11-AS1 HDAC11 RF00017-3923 FBLN2 LOC100128772 NUP210
GH03J013547 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.5 476 3 PRDM10 KDM1A ZIC2 PATZ1 MNT FOXM1 ZNF189 SPI1 ZNF184 SP1 FBLN2 piR-55985-126 WNT7A
GH03J013528 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 600.4 -20.4 -20424 1 YBX1 CTCF TARDBP ZNF600 ZNF341 ZKSCAN1 ZNF444 RAD21 NONO NCOA3 FBLN2 piR-36332 HDAC11
GH03J013568 Promoter/Enhancer 1 EPDnew Ensembl dbSUPER 605.6 +20.1 20076 2 ZBTB33 ZNF341 ZFHX2 KLF1 EGR2 FBLN2 piR-55985-126 lnc-HDAC11-2 WNT7A
GH03J013532 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.4 -11.9 -11925 9.2 CEBPG CREB1 KDM1A TARDBP ZHX2 JUND ZIC2 ATF7 SCRT2 ZFX HDAC11 HDAC11-AS1 LINC00620 WNT7A FBLN2 piR-36332
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBLN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBLN2

Top Transcription factor binding sites by QIAGEN in the FBLN2 gene promoter:
  • AML1a
  • AREB6
  • deltaCREB
  • ER-alpha
  • GATA-1
  • HOXA5
  • HSF1 (long)
  • HSF1short
  • Ik-2
  • ZIC2

Genomic Locations for FBLN2 Gene

Genomic Locations for FBLN2 Gene
chr3:13,549,125-13,638,422
(GRCh38/hg38)
Size:
89,298 bases
Orientation:
Plus strand
chr3:13,573,824-13,679,922
(GRCh37/hg19)
Size:
106,099 bases
Orientation:
Plus strand

Genomic View for FBLN2 Gene

Genes around FBLN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBLN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBLN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBLN2 Gene

Proteins for FBLN2 Gene

  • Protein details for FBLN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98095-FBLN2_HUMAN
    Recommended name:
    Fibulin-2
    Protein Accession:
    P98095
    Secondary Accessions:
    • B7Z9C5
    • Q8IUI0
    • Q8IUI1

    Protein attributes for FBLN2 Gene

    Size:
    1184 amino acids
    Molecular mass:
    126573 Da
    Quaternary structure:
    • Homotrimer; disulfide-linked. Interacts with LAMA2 (By similarity). Interacts with FBN1 (via N-terminal domain). Forms a ternary complex with ELN and FBN1 (PubMed:17255108).

    Alternative splice isoforms for FBLN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBLN2 Gene

Post-translational modifications for FBLN2 Gene

  • O-glycosylated with core 1 or possibly core 8 glycans. It is unsure if the O-glycosylation is on Thr-347 or Ser-348.
  • Glycosylation at Asn180, Thr357, Ser361, Thr370, Asn507, and Asn1035
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FBLN2_HUMAN (751)

No data available for DME Specific Peptides for FBLN2 Gene

Domains & Families for FBLN2 Gene

Gene Families for FBLN2 Gene

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

Protein Domains for FBLN2 Gene

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

Suggested Antigen Peptide Sequences for FBLN2 Gene

GenScript: Design optimal peptide antigens:
  • Truncated fibulin 2 (D9ZGF4_HUMAN)
  • Fibulin-2 (FBLN2_HUMAN)
  • Fibulin 2 (Q86V58_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P98095

UniProtKB/Swiss-Prot:

FBLN2_HUMAN :
  • Belongs to the fibulin family.
Family:
  • Belongs to the fibulin family.
genes like me logo Genes that share domains with FBLN2: view

Function for FBLN2 Gene

Molecular function for FBLN2 Gene

UniProtKB/Swiss-Prot Function:
Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).
GENATLAS Biochemistry:
fibulin 2,calcium binding,extracellular matrix protein,expressed in heart tissue,located in the embryonic endocardial cushion tissue and predominantly in the valves,also expressed in skin,perichondrium,elastic intima of blood vessels and kidney glomerulus and colocalizing with FBN1 in these tissues with different variants

Phenotypes From GWAS Catalog for FBLN2 Gene

Gene Ontology (GO) - Molecular Function for FBLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS,RCA 25037231
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA --
GO:0030023 extracellular matrix constituent conferring elasticity RCA 27559042
GO:0050840 extracellular matrix binding IBA 21873635
genes like me logo Genes that share ontologies with FBLN2: view
genes like me logo Genes that share phenotypes with FBLN2: view

Animal Models for FBLN2 Gene

MGI Knock Outs for FBLN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for FBLN2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBLN2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBLN2 Gene

Localization for FBLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBLN2 Gene

Secreted, extracellular space, extracellular matrix.

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 FBLN2 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0031012 extracellular matrix TAS 7806230
GO:0062023 colocalizes_with collagen-containing extracellular matrix ISS 22261194
GO:1903561 extracellular vesicle HDA 24769233
genes like me logo Genes that share ontologies with FBLN2: view

Pathways & Interactions for FBLN2 Gene

genes like me logo Genes that share pathways with FBLN2: view

Pathways by source for FBLN2 Gene

1 GeneGo (Thomson Reuters) pathway for FBLN2 Gene
  • Cell adhesion_Cell-matrix glycoconjugates

Gene Ontology (GO) - Biological Process for FBLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010811 positive regulation of cell-substrate adhesion IBA 21873635
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with FBLN2: view

No data available for SIGNOR curated interactions for FBLN2 Gene

Drugs & Compounds for FBLN2 Gene

(2) Drugs for FBLN2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556

(2) Additional Compounds for FBLN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBLN2: view

Transcripts for FBLN2 Gene

mRNA/cDNA for FBLN2 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 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 FBLN2

Alternative Splicing Database (ASD) splice patterns (SP) for FBLN2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for FBLN2 Gene

GeneLoc Exon Structure for
FBLN2

Expression for FBLN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBLN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBLN2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x7.0).

Protein differential expression in normal tissues from HIPED for FBLN2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (17.1) and Testis (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBLN2 Gene



Protein tissue co-expression partners for FBLN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBLN2

SOURCE GeneReport for Unigene cluster for FBLN2 Gene:

Hs.198862

mRNA Expression by UniProt/SwissProt for FBLN2 Gene:

P98095-FBLN2_HUMAN
Tissue specificity: Component of both basement membranes and other connective tissues. Expressed in heart, placenta and ovary.

Evidence on tissue expression from TISSUES for FBLN2 Gene

  • Liver(4.5)
  • Heart(3.1)
  • Muscle(2.9)
  • Skin(2.5)
  • Nervous system(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with FBLN2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FBLN2 Gene

Orthologs for FBLN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBLN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FBLN2 30 31
  • 98.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FBLN2 30 31
  • 85.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FBLN2 30 31
  • 84.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fbln2 30
  • 81.81 (n)
Mouse
(Mus musculus)
Mammalia Fbln2 30 17 31
  • 81.55 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia FBLN2 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FBLN2 30 31
  • 69.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FBLN2 31
  • 55 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii fbln2 30 31
  • 60.06 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011322 30
  • 46.17 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31999 30
  • 43.98 (n)
Worm
(Caenorhabditis elegans)
Secernentea B0393.5 32
  • 36 (a)
him-4 31
  • 5 (a)
OneToMany
Species where no ortholog for FBLN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for FBLN2 Gene

ENSEMBL:
Gene Tree for FBLN2 (if available)
TreeFam:
Gene Tree for FBLN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBLN2: view image

Paralogs for FBLN2 Gene

Paralogs for FBLN2 Gene

(25) SIMAP similar genes for FBLN2 Gene using alignment to 7 proteins:

  • FBLN2_HUMAN
  • C9JQS6_HUMAN
  • D9ZGF4_HUMAN
  • F5H1F3_HUMAN
  • H7BXL0_HUMAN
  • H7C1A3_HUMAN
  • Q86V58_HUMAN
genes like me logo Genes that share paralogs with FBLN2: view

Variants for FBLN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBLN2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
775846 Benign: not provided 13,619,797(+) C/T SYNONYMOUS_VARIANT
784466 Benign: not provided 13,571,286(+) G/A MISSENSE_VARIANT
787781 Benign: not provided 13,628,993(+) C/A MISSENSE_VARIANT
791022 Benign: not provided 13,570,526(+) G/A SYNONYMOUS_VARIANT
791908 Benign: not provided 13,637,649(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FBLN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for FBLN2 Gene

Variant ID Type Subtype PubMed ID
dgv1362e212 CNV loss 25503493
dgv8231n54 CNV loss 21841781
dgv870e214 CNV gain 21293372
esv1004489 CNV deletion 20482838
esv1004545 CNV deletion 20482838
esv2724942 CNV deletion 23290073
esv3568625 CNV loss 25503493
esv3595351 CNV gain 21293372
nsv1011766 CNV gain 25217958
nsv3707 CNV insertion 18451855
nsv3708 CNV insertion 18451855
nsv470416 CNV loss 18288195
nsv526900 CNV loss 19592680

Variation tolerance for FBLN2 Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.45; 71.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBLN2 Gene

Human Gene Mutation Database (HGMD)
FBLN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBLN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLN2 Gene

Disorders for FBLN2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FBLN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
familial osteochondritis dissecans
  • ocd
osteochondritis dissecans
  • ocd
cutis laxa
  • loose skin
vitreoretinal dystrophy
  • vitreoretinal dystrophies
marfan syndrome
  • mfs
- elite association - COSMIC cancer census association via MalaCards
Search FBLN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FBLN2

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 FBLN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBLN2 Gene

Publications for FBLN2 Gene

  1. Fibulin-2 (FBLN2): human cDNA sequence, mRNA expression, and mapping of the gene on human and mouse chromosomes. (PMID: 7806230) Zhang RZ … Chu ML (Genomics 1994) 2 3 4 23
  2. The extracellular matrix proteins fibulin-1 and fibulin-2 in the early human embryo. (PMID: 8737292) Miosge N … Herken R (The Histochemical journal 1996) 3 4 23
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41
  4. Expression of ECM proteins fibulin-1 and -2 in acute and chronic liver disease and in cultured rat liver cells. (PMID: 19609566) Piscaglia F … Ramadori G (Cell and tissue research 2009) 3 23
  5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 41

Products for FBLN2 Gene

Sources for FBLN2 Gene