AutismKB 2.0

Annotation Details for FBN2


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Basic Information Top
Gene Symbol:FBN2 ( CCA,DA9 )
Gene Full Name: fibrillin 2
Band: 5q23.3
Quick LinksEntrez ID:2201; OMIM: 612570; Uniprot ID:FBN2_HUMAN; ENSEMBL ID: ENSG00000138829; HGNC ID: 3604
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001527IDA-microfibril8120105
GO:0001527TAS-microfibril20855508
GO:0005576TAS-extracellular region-
GO:0005578IEA-proteinaceous extracellular matrix-
GO:0031012IDA-extracellular matrix23658023
GO ID Evidence Qualifier GO_term References
GO:0005201IBA-extracellular matrix structural constituent-
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding12429738
GO:0030023IC-extracellular matrix constituent conferring elasticity8120105
GO ID Evidence Qualifier GO_term References
GO:0022617TAS-extracellular matrix disassembly-
GO:0030198TAS-extracellular matrix organization-
GO:0030326IEA-embryonic limb morphogenesis-
GO:0030501ISS-positive regulation of bone mineralization-
GO:0035583ISS-sequestering of TGFbeta in extracellular matrix-
GO:0043010IEP-camera-type eye development25406291
GO:0045669ISS-positive regulation of osteoblast differentiation-
GO:0048048IEP-embryonic eye morphogenesis25406291
GO:0060346ISS-bone trabecula formation-
GO:0090287IBA-regulation of cellular response to growth factor stimulus-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
FBN2ELN10849510825173 Reconstituted Complex
FBN2ELN10832110825173 Reconstituted Complex
MATN2FBN210849512180907 Reconstituted Complex
MATN2FBN211031712180907 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95490
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-090112-3'