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Gene

fbn2b

ID
ZDB-GENE-090112-3
Name
fibrillin 2b
Symbol
fbn2b Nomenclature History
Previous Names
  • fbn2 (1)
  • pfd (1)
  • puff daddy (1)
  • sco
  • scoth tape (1)
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to be an extracellular matrix structural constituent. Acts upstream of or within several processes, including circulatory system development; notochord morphogenesis; and regulation of cell proliferation involved in heart valve morphogenesis. Predicted to be located in collagen-containing extracellular matrix and extracellular region. Predicted to be active in extracellular matrix. Is expressed in several structures, including epidermis; hypoblast; hypochord; immature eye; and paraxial mesoderm. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Orthologous to several human genes including FBN3 (fibrillin 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
13 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With fbn2b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital contractural arachnodactyly Alliance Contractural arachnodactyly, congenital 121050
Macular degeneration, early-onset 616118
Associated With fbn2b 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
Family IPR011398 Fibrillin
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 Fibrillin 1, unique N-terminal domain Growth factor receptor cysteine-rich domain superfamily TB domain TGF-beta binding (TB) domain superfamily
UniProtKB:B6CS38 2868
UniProtKB:E7FG71 252
UniProtKB:A0A0G2KQ62 2868
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