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FBN2 Gene(Protein Coding)

Fibrillin 2

GCID:
GC05M128257
GIFtS:
59
Genes Participants
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Aliases for FBN2 Gene

Aliases for FBN2 Gene

  • Fibrillin 2 2 3 5
  • Fibrillin 5 2 3
  • Congenital Contractural Arachnodactyly 2
  • Fibrillin-2 3
  • EOMD 3
  • DA9 3
  • CCA 3

External Ids for FBN2 Gene

Previous HGNC Symbols for FBN2 Gene

  • CCA

Previous GeneCards Identifiers for FBN2 Gene

  • GC05M127131
  • GC05M128029
  • GC05M127624
  • GC05M127669
  • GC05M127621
  • GC05M122784

Summaries for FBN2 Gene

Entrez Gene Summary for FBN2 Gene

  • The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBN2 Gene

FBN2 (Fibrillin 2) is a Protein Coding gene. Diseases associated with FBN2 include Contractural Arachnodactyly, Congenital and Macular Degeneration, Early-Onset. Among its related pathways are Phospholipase-C Pathway and ERK Signaling. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is FBN1.

UniProtKB/Swiss-Prot for FBN2 Gene

  • Fibrillin-2: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBN2 Gene

Genomics for FBN2 Gene

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  1. Regulatory Element

Regulatory Elements for FBN2 Gene

Enhancers for FBN2 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
GH05G128536 1 ENCODE 39.8 +121.4 121417 3.9 SIN3A FEZF1 GLI4 ZNF2 GLIS2 GATA2 ZNF302 FOS ZNF263 ZNF202 FBN2 LOC105379168 ENSG00000207290 GC05M128372
GH05G128436 0.8 ENCODE 30.1 +222.0 221970 1.9 PKNOX1 ZBTB21 JUN ZNF2 HIC1 ZNF366 SCRT2 FOS ZNF600 PRDM10 FBN2 LINC01184 GC05M128372 ENSG00000207290 LOC105379168
GH05G128271 1 ENCODE dbSUPER 21.5 +386.9 386886 1.0 MXI1 RFX1 TAF1 JUN JUNB USF2 MAFG BMI1 FOSL1 ZNF316 FBN2 GC05P128268 ENSG00000207290 GC05M128372
GH05G128546 0.5 ENCODE 33.1 +112.0 112045 1.5 NFIC MTA2 RBBP5 FBN2 SLC27A6 GC05P128638
GH05G128237 1 ENCODE dbSUPER 16.2 +421.4 421376 1.1 CTCF PKNOX1 ARNT FEZF1 CEBPG ZIC2 RAD21 ZNF2 BCL11B CTBP1 FBN2 GC05P128268 GC05P128186
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBN2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FBN2 gene promoter:

Genomic Location for FBN2 Gene

Chromosome:
5
Start:
128,257,909 bp from pter
End:
128,659,185 bp from pter
Size:
401,277 bases
Orientation:
Minus strand

Genomic View for FBN2 Gene

Genes around FBN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBN2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FBN2 Gene

Proteins for FBN2 Gene

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  • Protein details for FBN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35556-FBN2_HUMAN
    Recommended name:
    Fibrillin-2
    Protein Accession:
    P35556
    Secondary Accessions:
    • B4DU01
    • Q59ES6

    Protein attributes for FBN2 Gene

    Size:
    2912 amino acids
    Molecular mass:
    314775 Da
    Quaternary structure:
    • Interacts with BMP2, BMP4, BMP7, BMP10 and GDF5 (PubMed:18339631). Interacts with MFAP2 and MFAP5 (PubMed:15131124). Interacts with ADAMTSL5 (PubMed:23010571). Interacts with MFAP4 (PubMed:26601954).

    Alternative splice isoforms for FBN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBN2 Gene

Protein Expression for FBN2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FBN2 Gene

  • Glycosylation at Thr51, isoforms=2492, Thr1066, Asn1112, Asn1414, isoforms=1529, Asn1625, isoforms=1714, Asn1745, Asn1756, Asn1945, isoforms=2120, isoforms=2225, and Asn2808
  • Modification sites at PhosphoSitePlus

Other Protein References for FBN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FBN2 Gene

Domains & Families for FBN2 Gene

Protein Domains for FBN2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FBN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35556

UniProtKB/Swiss-Prot:

FBN2_HUMAN :
  • Belongs to the fibrillin family.
Family:
  • Belongs to the fibrillin family.
genes like me logo Genes that share domains with FBN2: view

No data available for Gene Families for FBN2 Gene

Function for FBN2 Gene

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Molecular function for FBN2 Gene

GENATLAS Biochemistry:
fibrillin 2,312kDa,major constituent of extracellular microfibrils
UniProtKB/Swiss-Prot Function:
Fibrillin-2: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.

Gene Ontology (GO) - Molecular Function for FBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA,IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12429738
GO:0030023 extracellular matrix constituent conferring elasticity IC 8120105
genes like me logo Genes that share ontologies with FBN2: view
genes like me logo Genes that share phenotypes with FBN2: view

Human Phenotype Ontology for FBN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FBN2 Gene

MGI Knock Outs for FBN2:

Inhibitory RNA Products

Cell Line Products

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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FBN2 Gene

Localization for FBN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBN2 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 FBN2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril TAS 20855508
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IDA 23658023
genes like me logo Genes that share ontologies with FBN2: view

Pathways & Interactions for FBN2 Gene

genes like me logo Genes that share pathways with FBN2: view

Pathways by source for FBN2 Gene

Gene Ontology (GO) - Biological Process for FBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0030326 embryonic limb morphogenesis IEA --
GO:0030501 positive regulation of bone mineralization ISS --
GO:0035108 limb morphogenesis IEA --
genes like me logo Genes that share ontologies with FBN2: view

No data available for SIGNOR curated interactions for FBN2 Gene

Drugs & Compounds for FBN2 Gene

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(3) Drugs for FBN2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for FBN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBN2: view

Transcripts for FBN2 Gene

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mRNA/cDNA for FBN2 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(200) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FBN2 Gene

Fibrillin 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBN2 Gene

No ASD Table

Relevant External Links for FBN2 Gene

GeneLoc Exon Structure for
FBN2
ECgene alternative splicing isoforms for
FBN2

Expression for FBN2 Gene

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  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBN2 Gene

mRNA expression in normal human tissues for FBN2 Gene
mRNA expression by BioGPS for FBN2 GenemRNA expression by GTEx for FBN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FBN2 Gene

This gene is overexpressed in Adrenal (35.7) and Amniocyte (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBN2 Gene



NURSA nuclear receptor signaling pathways regulating expression of FBN2 Gene:

FBN2

SOURCE GeneReport for Unigene cluster for FBN2 Gene:

Hs.519294

mRNA Expression by UniProt/SwissProt for FBN2 Gene:

P35556-FBN2_HUMAN
Tissue specificity: Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruchs membrane and in the sclera. Not expressed in the neural retina.

Evidence on tissue expression from TISSUES for FBN2 Gene

  • Liver(4.4)
  • Heart(2.8)
  • Lung(2.5)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FBN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FBN2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for FBN2 Gene

Orthologs for FBN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia FBN2 34 35
  • 99.6 (n)
cow
(Bos Taurus)
 Mammalia FBN2 34 35
  • 91.64 (n)
dog
(Canis familiaris)
 Mammalia FBN2 34 35
  • 91.47 (n)
mouse
(Mus musculus)
 Mammalia Fbn2 34 16 35
  • 87.5 (n)
rat
(Rattus norvegicus)
 Mammalia Fbn2 34
  • 87.15 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 28 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves FBN2 34 35
  • 82.31 (n)
lizard
(Anolis carolinensis)
 Reptilia FBN2 35
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fbn2 34
  • 77.19 (n)
Str.12442 34
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010021 34
  • 42.69 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG7526 36
  • 31 (a)
worm
(Caenorhabditis elegans)
 Secernentea B0393.5 36
  • 38 (a)
ZK783.1 36
  • 28 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 46 (a)
 OneToMany
Species where no ortholog for FBN2 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • zebrafish (Danio rerio)

Evolution for FBN2 Gene

ENSEMBL:
Gene Tree for FBN2 (if available)
TreeFam:
Gene Tree for FBN2 (if available)

Paralogs for FBN2 Gene

Paralogs for FBN2 Gene

(15) SIMAP similar genes for FBN2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FBN2: view

Variants for FBN2 Gene

Sequence variations from dbSNP and Humsavar for FBN2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs137852825 Pathogenic, Arthrogryposis, distal, 9 (DA9) [MIM:121050] 128,335,544(-) AGGCT(A/G)TGACA reference, missense
rs137852826 Pathogenic, Arthrogryposis, distal, 9 (DA9) [MIM:121050] 128,395,182(-) GCTGT(A/G)AGCCT intron-variant, reference, missense
rs137852827 Pathogenic, Arthrogryposis, distal, 9 (DA9) [MIM:121050] 128,344,385(-) GCACG(C/G)GTAAG reference, missense
rs137852828 Pathogenic, Arthrogryposis, distal, 9 (DA9) [MIM:121050] 128,338,980(-) CGAGT(G/T)CTTCG reference, missense
rs145259927 other, Arthrogryposis, distal, 9 (DA9) [MIM:121050] 128,366,419(+) AAGGC(C/T)GTGGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FBN2 Gene

Variant ID Type Subtype PubMed ID
esv2674979 CNV deletion 23128226
esv2763497 CNV loss 21179565
esv3606725 CNV loss 21293372
esv3606726 CNV loss 21293372
esv3606727 CNV loss 21293372
nsv1015650 CNV loss 25217958
nsv1120151 OTHER inversion 24896259
nsv1147519 CNV duplication 26484159
nsv4994 CNV insertion 18451855
nsv599697 CNV loss 21841781
nsv599698 CNV loss 21841781
nsv830482 CNV gain 17160897
nsv830483 CNV gain 17160897

Variation tolerance for FBN2 Gene

Residual Variation Intolerance Score: 6.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.22; 92.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBN2 Gene

Human Gene Mutation Database (HGMD)
FBN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBN2 Gene

Disorders for FBN2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for FBN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
contractural arachnodactyly, congenital
  • arthrogryposis, distal, type 9
macular degeneration, early-onset
  • eomd
thoracic aortic aneurysms and aortic dissections
  • taad
brown syndrome
  • brown tendon sheath syndrome
marden-walker syndrome
  • connective tissue disorder marden walker type
- elite association - COSMIC cancer census association via MalaCards
Search FBN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FBN2_HUMAN
  • Arthrogryposis, distal, 9 (DA9) [MIM:121050]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA9 is a connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears. {ECO:0000269 PubMed:10797416, ECO:0000269 PubMed:11754102, ECO:0000269 PubMed:19006240, ECO:0000269 PubMed:20799338, ECO:0000269 PubMed:25834781, ECO:0000269 PubMed:27196565, ECO:0000269 PubMed:7493032, ECO:0000269 PubMed:9714438, ECO:0000269 PubMed:9737771}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular degeneration, early-onset (EOMD) [MIM:616118]: An ocular disorder characterized by macular changes resulting in progressive loss of visual acuity. {ECO:0000269 PubMed:24899048}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FBN2

Genetic Association Database (GAD)
FBN2
Human Genome Epidemiology (HuGE) Navigator
FBN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBN2
genes like me logo Genes that share disorders with FBN2: view

No data available for Genatlas for FBN2 Gene

Publications for FBN2 Gene

  1. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. (PMID: 8120105) Zhang H. … Ramirez F. (J. Cell Biol. 1994) 2 3 4 22 64
  2. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. (PMID: 19006240) Callewaert B.L. … De Paepe A.M. (Hum. Mutat. 2009) 3 4 22 64
  3. Association analysis of genes involved in the maintenance of the integrity of the extracellular matrix with intracranial aneurysms in a Japanese cohort. (PMID: 19506372) Ruigrok Y.M. … Krischek B. (Cerebrovasc. Dis. 2009) 3 22 46 64
  4. MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils. (PMID: 15131124) Hanssen E. … Gibson M.A. (J. Biol. Chem. 2004) 3 4 22 64
  5. Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm. (PMID: 12750963) Yoneyama T. … Inoue I. (J. Hum. Genet. 2003) 3 22 46 64

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