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. Is expressed in several structures, including brain; head mesenchyme; muscle; notochord; and paraxial mesoderm. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IB. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
15 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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
Family IPR026824 EGF-containing fibulin-like extracellular matrix protein 2
Homologous_superfamily IPR009030 Growth factor receptor cysteine-rich domain superfamily
PTM IPR000152 EGF-type aspartate/asparagine hydroxylation site
Domain Details Per Protein
Protein Length Complement Clr-like EGF domain EGF-containing fibulin-like extracellular matrix protein 2 EGF-like calcium-binding, conserved site EGF-like calcium-binding domain EGF-like domain EGF-type aspartate/asparagine hydroxylation site Growth factor receptor cysteine-rich domain superfamily
UniProtKB:Q5PR37 440
UniProtKB:A2CEN1 440
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