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

Comparative Information

Expression

All Expression Data

1 figure from Talbot et al., 2016

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

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
		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	IPR024731	EGF domain
Domain	IPR026823	Complement Clr-like EGF 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 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	Growth factor receptor cysteine-rich domain superfamily	TB domain	TGF-beta binding (TB) domain superfamily
UniProtKB:A0A8M9Q6D2 InterPro	698
UniProtKB:A0A8M9PTW5 InterPro	1932

Transcripts

Genome Browsers

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	fbn2a-202 (1) Ensembl	Havana	4067 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	fbn2a-002 (1) Ensembl	Havana	325 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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