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 enable calcium ion binding activity. Predicted to be located in extracellular region. Is expressed in several structures, including brain; head mesenchyme; muscle; notochord; and paraxial mesoderm. Human ortholog(s) of this gene implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. 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
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
1 - 1 of 1
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
Domain IPR049883 NOTCH1 EGF-like calcium-binding domain
1 - 5 of 9 Show all
Domain Details Per Protein
Protein Additional Resources Length Complement Clr-like EGF domain EGF-like calcium-binding, conserved site EGF-like calcium-binding domain EGF-like domain EGF-type aspartate/asparagine hydroxylation site Fibulin, C-terminal Ig-like domain Growth factor receptor cysteine-rich domain superfamily Nephronectin domain-containing protein NOTCH1 EGF-like calcium-binding domain
UniProtKB:Q5PR37 InterPro 440
1 - 1 of 1
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA efemp2a-201 (1)
Ensembl
Ensembl 4,993 nt
ZFIN BLAST
1 - 1 of 1
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
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