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] See more...

Aliases for FBN2 Gene

Aliases for FBN2 Gene

  • Fibrillin 2 2 3 5
  • Fibrillin-2 3 4
  • Fibrillin 5 2 3
  • Congenital Contractural Arachnodactyly 2
  • 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 ERK Signaling and Hypothesized Pathways in Pathogenesis of Cardiovascular Disease. Gene Ontology (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 Summary 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.

Additional gene information for FBN2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBN2 Gene

Genomics for FBN2 Gene

GeneHancer (GH) Regulatory Elements for FBN2 Gene

Promoters and enhancers for FBN2 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
GH05J128534 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 539.8 +122.4 122384 6 ZSCAN5C ZNF639 ZNF10 ZIC2 ZBTB10 POLR2A ZNF423 ZBTB26 ATF2 ZNF341 FBN2 LOC105379168 SLC27A6 lnc-C5orf63-6 CCDC192 LINC01184 ENSG00000207290
GH05J128436 Enhancer 0.9 Ensembl ENCODE 30.1 +222.0 221970 1.9 JUND FOS ZNF639 RFX1 OSR2 BCL11A ZBTB17 FOSL2 JUN KLF8 FBN2 LINC01184 ENSG00000207290 LOC105379168
GH05J128673 Enhancer 0.7 Ensembl 35.6 -14.3 -14316 2.6 ZBTB40 ZSCAN5C CTCF ZIC2 CUX1 KLF7 OSR2 HDAC2 WT1 ZBTB17 FBN2 ENSG00000248634 piR-48369-161 LOC105379168 SLC27A6
GH05J128546 Enhancer 0.7 Ensembl ENCODE 33.1 +112.0 112044 1.5 POLR2A SRF TAF1 EP300 SP1 MTA2 RBBP5 FBN2 LOC105379168 SLC27A6 lnc-C5orf63-6 piR-56497-130
GH05J128441 Enhancer 0.6 Ensembl ENCODE 30.1 +217.0 216968 0.5 MAFK PRDM6 FEZF1 BCL6B FBN2 ENSG00000207290 LOC105379168
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBN2

Top Transcription factor binding sites by QIAGEN in the FBN2 gene promoter:
  • AP-4
  • c-Myb
  • GR
  • GR-alpha
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pax-4a

Genomic Locations for FBN2 Gene

Genomic Locations for FBN2 Gene
chr5:128,257,909-128,659,185
(GRCh38/hg38)
Size:
401,277 bases
Orientation:
Minus strand
chr5:127,593,601-127,994,878
(GRCh37/hg19)
Size:
401,278 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 StructureGene Density

RefSeq DNA sequence for FBN2 Gene

Proteins for FBN2 Gene

  • 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

Post-translational modifications for FBN2 Gene

  • Glycosylation at Thr51, Asn492, Thr1066, Asn1112, Asn1414, Asn1529, Asn1625, Asn1714, Asn1745, Asn1756, Asn1945, Asn2120, Asn2225, and Asn2808
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for FBN2 Gene

No data available for DME Specific Peptides for FBN2 Gene

Domains & Families for FBN2 Gene

Gene Families for FBN2 Gene

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

Protein Domains for FBN2 Gene

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • Type II EGF-like signature
  • Matrix fibril-associated
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBN2 Gene

GenScript: Design optimal peptide antigens:
  • Fibrillin-2 (FBN2_HUMAN)

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

Function for FBN2 Gene

Molecular function for FBN2 Gene

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.
GENATLAS Biochemistry:
fibrillin 2,312kDa,major constituent of extracellular microfibrils

Phenotypes From GWAS Catalog for FBN2 Gene

Gene Ontology (GO) - Molecular Function for FBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 28327460
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:

Animal Model Products

CRISPR Products

Clone Products

Cell Line Products

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 3
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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:0031012 extracellular matrix IBA 21873635
GO:0062023 collagen-containing extracellular matrix HDA 23658023
genes like me logo Genes that share ontologies with FBN2: view

Pathways & Interactions for FBN2 Gene

PathCards logo

SuperPathways for FBN2 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 FBN2: view

Pathways by source for FBN2 Gene

13 Qiagen pathways for FBN2 Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

Gene Ontology (GO) - Biological Process for FBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0035583 sequestering of TGFbeta in extracellular matrix ISS --
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

(7) Drugs for FBN2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Calcium Citrate Approved, Investigational Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 0
Calcium phosphate dihydrate Approved Pharma Target 0
Cytidine triphosphate Experimental Pharma Target 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

mRNA/cDNA for FBN2 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for FBN2 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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, Bruch's 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
Regions:
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

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 31 30
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBN2 31 30
  • 91.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBN2 31 30
  • 91.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fbn2 17 31 30
  • 87.5 (n)
rat
(Rattus norvegicus)
Mammalia Fbn2 30
  • 87.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 28 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FBN2 31 30
  • 82.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBN2 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbn2 30
  • 77.19 (n)
Str.12442 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010021 30
  • 42.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7526 32
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea B0393.5 32
  • 38 (a)
ZK783.1 32
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FBN2: view image

Paralogs for FBN2 Gene

Paralogs for FBN2 Gene

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

  • FBN2_HUMAN
  • D6REJ2_HUMAN
  • D6RJI3_HUMAN
  • E9PHW4_HUMAN
  • L8E7B8_HUMAN
  • L8E8V5_HUMAN
genes like me logo Genes that share paralogs with FBN2: view

Variants for FBN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBN2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
213361 Uncertain Significance: Congenital contractural arachnodactyly 128,276,049(-) T/C MISSENSE_VARIANT
561297 Likely Benign: Connective tissue disorder 128,335,243(-) G/A SYNONYMOUS_VARIANT
561298 Uncertain Significance: Connective tissue disorder; Congenital contractural arachnodactyly 128,361,770(-) G/A MISSENSE_VARIANT
565354 Uncertain Significance: Congenital contractural arachnodactyly 128,537,511(-) C/G MISSENSE_VARIANT
566529 Uncertain Significance: Congenital contractural arachnodactyly 128,338,941(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FBN2 Gene

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)

Additional Variant Information for FBN2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FBN2 Gene

MalaCards: The human disease database

(32) MalaCards diseases for FBN2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • Contractural arachnodactyly, congenital (CCA) [MIM:121050]: An autosomal dominant 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.

Additional Disease Information for FBN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of cell biology 1994) 2 3 4 23 54
  2. 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 YM … Krischek B (Cerebrovascular diseases (Basel, Switzerland) 2009) 3 23 41 54
  3. 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 BL … De Paepe AM (Human mutation 2009) 3 4 23 54
  4. MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils. (PMID: 15131124) Hanssen E … Gibson MA (The Journal of biological chemistry 2004) 3 4 23 54
  5. Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm. (PMID: 12750963) Yoneyama T … Inoue I (Journal of human genetics 2003) 3 23 41 54

Products for FBN2 Gene

Sources for FBN2 Gene