fbn3

ID

ZDB-GENE-090112-3

Name

fibrillin 3

Symbol

fbn3 Nomenclature History

Previous Names

fbn2 (1)
fbn2b (1)
pfd (1)
puff daddy (1)
sco
scoth tape (1)

Type

protein_coding_gene

Location

Chr: 22 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

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 extracellular region and microfibril. 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 FBN2 (fibrillin 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

9 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 fbn3 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 fbn3 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	IPR024731	EGF domain
Domain	IPR026823	Complement Clr-like EGF domain
Domain	IPR040872	Fibrillin 1, unique N-terminal domain
Domain	IPR049388	Fibrillin, first EGF domain
Domain	IPR049883	NOTCH1 EGF-like calcium-binding domain
Family	IPR052080	von Willebrand factor C/EGF & 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