Aliases for FBLN2 Gene
External Ids for FBLN2 Gene
- HGNC: 3601
- Entrez Gene: 2199
- Ensembl: ENSG00000163520
- OMIM: 135821
- UniProtKB: P98095
Previous GeneCards Identifiers for FBLN2 Gene
- GC03P013541
Summaries 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 Elastic fibre formation and Degradation of the extracellular matrix. 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 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).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBLN2 Gene
Genomics for FBLN2 Gene
Regulatory Elements for FBLN2 Gene
Enhancers for FBLN2 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 |
|---|---|---|---|---|---|---|---|---|
| GH03G013532 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 5.3 | -12.5 | -12508 | 7.7 | HDGF ATF1 PKNOX1 ARNT YBX1 BRCA1 ZBTB7B TCF12 FOS ZNF263 | LINC00620 FBLN2 HDAC11 PIR59377 |
| GH03G013647 | 1.2 | Ensembl ENCODE | 4.9 | +99.1 | 99116 | 1.9 | HDGF PKNOX1 ATF1 ARNT ARID4B BRCA1 ZNF2 ZNF48 ZNF121 ZNF143 | LINC00620 FBLN2 GC03M014224 |
| GH03G013568 | 0.6 | dbSUPER | 5.6 | +19.9 | 19942 | 1.7 | BCOR KLF1 NRF1 ZMYM3 ZNF623 ZFHX2 ZNF341 KDM1A EGR2 | FBLN2 GC03P013574 |
| GH03G013557 | 0.9 | FANTOM5 dbSUPER | 2.6 | +8.7 | 8673 | 0.4 | USF1 L3MBTL2 BHLHE40 MAFG USF2 ZFHX2 RAD51 GLIS1 EMSY EGR2 | FBLN2 GC03P013574 |
| GH03G013546 | 1.5 | Ensembl ENCODE dbSUPER | 0.7 | -2.3 | -2322 | 1.5 | PKNOX1 ATF1 ARNT TCF12 ELK1 GATA2 FOS JUNB NCOA1 ZNF518A | HDAC11 HDAC11-AS1 VN1R20P FBLN2 PIR59377 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBLN2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FBLN2 gene promoter:
Regulatory Element Products
Genomic Location for FBLN2 Gene
- Chromosome:
- 3
- Start:
- 13,549,125 bp from pter
- End:
- 13,638,422 bp from pter
- Size:
- 89,298 bases
- Orientation:
- Plus strand
Genomic View for FBLN2 Gene
Genes around FBLN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p25.1 by Ensembl
- 3p25.1 by Entrez Gene
- 3p25.1 by HGNC
FBLN2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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, isoforms=2347, isoforms=2348, Thr357, Thr370, Asn507, and isoforms=21035
- Modification sites at PhosphoSitePlus
Other Protein References for FBLN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Protein Products
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Cloud-Clone Corp. Proteins for FBLN2
- antibodies-online Proteins for FBLN2: See all 12
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FBLN2
No data available for DME Specific Peptides for FBLN2 Gene
Domains & Families for FBLN2 Gene
Gene Families for FBLN2 Gene
- HGNC:
Protein Domains for FBLN2 Gene
Suggested Antigen Peptide Sequences for FBLN2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P98095- Family:
-
- Belongs to the fibulin family.
Function for FBLN2 Gene
Molecular function for FBLN2 Gene
- 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
- 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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | TAS | 7806230 |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0050840 | extracellular matrix binding | IEA | -- |
Phenotypes for FBLN2 Gene
- MGI mutant phenotypes for FBLN2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FBLN2:
Animal Models for FBLN2 Gene
- MGI Knock Outs for FBLN2:
-
- Fbln2 tm1Chu
Animal Model Products
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-
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-
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- Search ViGene Biosciences for FBLN2
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miRNA for FBLN2 Gene
- miRTarBase miRNAs that target FBLN2
-
- hsa-mir-1-3p (MIRT002753)
- hsa-mir-335-5p (MIRT018315)
- hsa-mir-524-5p (MIRT527265)
- hsa-mir-520d-5p (MIRT527266)
- hsa-mir-4775 (MIRT527267)
- hsa-mir-32-3p (MIRT527268)
- hsa-mir-548at-5p (MIRT527269)
- hsa-mir-497-3p (MIRT527270)
- hsa-mir-548t-3p (MIRT527271)
- hsa-mir-548ap-3p (MIRT527272)
- hsa-mir-548aa (MIRT527273)
- hsa-mir-548x-3p (MIRT527274)
- hsa-mir-548j-3p (MIRT527275)
- hsa-mir-548aq-3p (MIRT527276)
- hsa-mir-548am-3p (MIRT527277)
- hsa-mir-548aj-3p (MIRT527278)
- hsa-mir-548ah-3p (MIRT527279)
- hsa-mir-548ae-3p (MIRT527280)
- hsa-mir-548z (MIRT527281)
- hsa-mir-548h-3p (MIRT527282)
- hsa-mir-548d-3p (MIRT527283)
- hsa-mir-548bb-3p (MIRT527284)
- hsa-mir-548ac (MIRT527285)
miRNA Products
- Search ViGene Biosciences for FBLN2
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Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 3 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005578 | proteinaceous extracellular matrix | IEA,TAS | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0031012 | colocalizes_with extracellular matrix | ISS,IDA | 22261194 |
| GO:0070062 | extracellular exosome | IDA | 23376485 |
Pathways & Interactions for FBLN2 Gene
Pathways by source for FBLN2 Gene
3 Reactome pathways for FBLN2 Gene
1 GeneGo (Thomson Reuters) pathway for FBLN2 Gene
Interacting Proteins for FBLN2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0010811 | positive regulation of cell-substrate adhesion | IEA | -- |
No data available for SIGNOR curated interactions for FBLN2 Gene
Drugs & Compounds for FBLN2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for FBLN2 Gene
mRNA/cDNA for FBLN2 Gene
- (4) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (208) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FBLN2 Gene
- Fibulin 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for FBLN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBLN2
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miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for FBLN2 gene
Flow Cytometry Products
| 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: |
Expression for FBLN2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Endocardial Tube Cells Endocardium
- Subepicardial Cells Epicardium
- Cushion Mesenchymal Cells Endocardium
- Coronary Vessels
- Dorsal Aorta
- Bone (Muscoskeletal System)
-
Tooth (Integumentary System)
- Dental Papilla Cells Dental Papilla
- Inner Enamel Epithelial Cells Dental Enamel
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Inner Enamel Epithelial Cells Dental Enamel
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
- XY Germ Cells Testis Cord
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Stylopod
- Stylopod
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Stylopod
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
- Neural Tube (Nervous System)
- Kidney (Urinary System)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
-
Placenta (Extraembryonic Tissues)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for FBLN2 Gene
This gene is overexpressed in Heart - Atrial Appendage (x7.0).
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, PaxDb, MaxQB, and MOPED for FBLN2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FBLN2 Gene:
FBLN2SOURCE GeneReport for Unigene cluster for FBLN2 Gene:
Hs.198862mRNA 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(4.4)
- Muscle(2.5)
- Heart(2.3)
- Skin(2.2)
Primer Products
-
OriGene qPCR primer pairs and template standards for FBLN2
-
OriGene qPCR primer pairs for FBLN2
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBLN2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBLN2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBLN2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbln2 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbln2 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | FBLN2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBLN2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBLN2 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | fbln2 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011322 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG31999 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | B0393.5 36 |
|
|
|
| him-4 35 |
|
OneToMany |
- Species where no ortholog for FBLN2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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)
Paralogs for FBLN2 Gene
Paralogs for FBLN2 Gene
(25) SIMAP similar genes for FBLN2 Gene using alignment to 7 proteins:
Variants for FBLN2 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000010557 | -- | 13,584,391(+) | GACTC(C/T)AACCC | intron-variant | |
| rs1000017389 | -- | 13,615,351(+) | CACCA(A/G)CCCAG | intron-variant | |
| rs1000084640 | -- | 13,567,586(+) | CTCCT(G/T)ACCTC | intron-variant, upstream-variant-2KB | |
| rs1000112278 | -- | 13,550,878(+) | TGGCT(C/G)TCACC | intron-variant | |
| rs1000245817 | -- | 13,563,095(+) | GATGC(A/G)CAAAT | intron-variant |
| 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 |
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)
Relevant External Links for FBLN2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLN2 Gene
Disorders for FBLN2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| familial osteochondritis dissecans |
|
|
| osteochondritis dissecans |
|
|
Search FBLN2 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for FBLN2
No data available for UniProtKB/Swiss-Prot and Genatlas for FBLN2 Gene
Publications for FBLN2 Gene
- Fibulin-2 (FBLN2): human cDNA sequence, mRNA expression, and mapping of the gene on human and mouse chromosomes. (PMID: 7806230) Zhang R.-Z. … Chu M.-L. (Genomics 1994) 2 3 4 22 64
- The extracellular matrix proteins fibulin-1 and fibulin-2 in the early human embryo. (PMID: 8737292) Miosge N. … Herken R. (Histochem. J. 1996) 3 4 22 64
- Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 64
- Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 46 64
- 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 Tissue Res. 2009) 3 22 64
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- Yeast expression
Sources for FBLN2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
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