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 have extracellular matrix structural constituent. Involved in several processes, including circulatory system development; notochord morphogenesis; and regulation of cell proliferation involved in heart valve morphogenesis. Predicted to localize to 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

Expression

All Expression Data

9 figures from 4 publications

Cross-Species Comparison

High Throughput Data

No data available

Thisse Expression Data

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
distal arthrogryposis	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