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Gene Ontology Classifications
Symbol
Name
ID
Fbln5
fibulin 5
MGI:1346091

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Enables integrin binding activity. Involved in several processes, including elastic fiber assembly; intramembranous bone growth; and regulation of transcription by RNA polymerase II. Acts upstream of or within extracellular matrix organization. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix and elastic fiber. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; heart; and skeleton. Used to study cutis laxa. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; age related macular degeneration; autosomal dominant cutis laxa 2; autosomal recessive cutis laxa type IA; and cutis laxa. Orthologous to human FBLN5 (fibulin 5).



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Gene Ontology Evidence Code Abbreviations:

Experimental:
EXP
Inferred from experiment
HMP
Inferred from high throughput mutant phenotype
HGI
Inferred from high throughput genetic interaction
HDA
Inferred from high throughput direct assay
HEP
Inferred from high throughput expression pattern
IDA
Inferred from direct assay
IEP
Inferred from expression pattern
IGI
Inferred from genetic interaction
IMP
Inferred from mutant phenotype
IPI
Inferred from physical interaction
Homology:
IAS
Inferred from ancestral sequence
IBA
Inferred from biological aspect of ancestor
IBD
Inferred from biological aspect of descendant
IKR
Inferred from key residues
IMR
Inferred from missing residues
IRD
Inferred from rapid divergence
ISA
Inferred from sequence alignment
ISM
Inferred from sequence model
ISO
Inferred from sequence orthology
ISS
Inferred from sequence or structural similarity
Automated:
IEA
Inferred from electronic annotation
RCA
Reviewed computational analysis
Other:
IC
Inferred by curator
NAS
Non-traceable author statement
ND
No biological data available
TAS
Traceable author statement

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Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory