Gene

fbn2a

ID
ZDB-GENE-090112-4
Name
fibrillin 2a
Symbol
fbn2a Nomenclature History
Previous Names
  • fbn4 (1)
  • fibrillin 4 (1)
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Predicted to have calcium ion binding activity. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Orthologous to human FBN2 (fibrillin 2).
Genome Resources
Note
None
Expression
All Expression Data
Fig. S1 from Talbot et al., 2016
Cross-Species Comparison
High Throughput 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 fbn2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital contractural arachnodactyly Alliance Contractural arachnodactyly, congenital 121050
distal arthrogryposis Alliance Contractural arachnodactyly, congenital 121050
Macular degeneration, early-onset 616118
Associated With fbn2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR013032 EGF-like, conserved site
Conserved_site IPR018097 EGF-like calcium-binding, conserved site
Domain IPR000742 EGF-like domain
Domain IPR001881 EGF-like calcium-binding domain
Domain IPR017878 TB domain
Domain IPR026823 Complement Clr-like EGF domain
Domain IPR040872 Fibrillin 1, unique N-terminal domain
Homologous_superfamily IPR009030 Growth factor receptor cysteine-rich domain superfamily
Homologous_superfamily IPR036773 TGF-beta binding (TB) 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, conserved site EGF-like domain EGF-type aspartate/asparagine hydroxylation site Fibrillin 1, unique N-terminal domain Growth factor receptor cysteine-rich domain superfamily TB domain TGF-beta binding (TB) domain superfamily
UniProtKB:B6D7H2 1902
UniProtKB:B6D7H3 622
UniProtKB:F8W453 1208
UniProtKB:F1QNG9 2760
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations