Gene

fbln5

ID
ZDB-GENE-041010-54
Name
fibulin 5
Symbol
fbln5 Nomenclature History
Previous Names
  • zgc:103575 (1)
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to have calcium ion binding activity. Predicted to be involved in elastic fiber assembly. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in age related macular degeneration; autosomal dominant cutis laxa 2; autosomal recessive cutis laxa type IA; and cutis laxa. Is expressed in bulbus arteriosus. Orthologous to human FBLN5 (fibulin 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With fbln5 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant cutis laxa 2 Alliance ?Cutis laxa, autosomal dominant 2 614434
autosomal recessive cutis laxa type IA Alliance Cutis laxa, autosomal recessive, type IA 219100
Charcot-Marie-Tooth disease, demyelinating, type 1H 619764
Macular degeneration, age-related, 3 608895
Neuropathy, hereditary, with or without age-related macular degeneration 608895
Associated With fbln5 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018097 EGF-like calcium-binding, conserved site
Domain IPR000742 EGF-like domain
Domain IPR001881 EGF-like calcium-binding domain
Domain IPR026823 Complement Clr-like EGF domain
Homologous_superfamily IPR009030 Growth factor receptor cysteine-rich domain superfamily
PTM IPR000152 EGF-type aspartate/asparagine hydroxylation site
Domain Details Per Protein
Protein Length Complement Clr-like EGF domain EGF-like calcium-binding, conserved site EGF-like calcium-binding domain EGF-like domain EGF-type aspartate/asparagine hydroxylation site Growth factor receptor cysteine-rich domain superfamily
UniProtKB:Q5XJ74 477
UniProtKB:B8A4X3 477
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations