Gene

efemp2a

ID

ZDB-GENE-041212-8

Name

EGF containing fibulin extracellular matrix protein 2a

Symbol

efemp2a Nomenclature History

Previous Names

efemp2
fbln4 (1)
fibulin 4 (1)
wu:fb22f10
wu:fc49d09
zgc:103659

Type

protein_coding_gene

Location

Chr: 14 Mapping Details/Browsers

Description

Predicted to have calcium ion binding activity. Predicted to be involved in elastic fiber assembly. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IB. Is expressed in several structures, including brain; head mesenchyme; muscle; notochord; and paraxial mesoderm. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

16 figures from 6 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:103659 (27 images)
eu430 (11 images)

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 efemp2a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive cutis laxa type IB	Alliance	Cutis laxa, autosomal recessive, type IB	614437

Associated With efemp2a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018097	EGF-like calcium-binding, conserved site
Domain	IPR000742	EGF-like domain
Domain	IPR001881	EGF-like calcium-binding domain
Domain	IPR026823	Complement Clr-like EGF domain
Homologous_superfamily	IPR009030	Growth factor receptor cysteine-rich domain superfamily
PTM	IPR000152	EGF-type aspartate/asparagine hydroxylation site