ZFIN ID: ZDB-GENE-041212-8
Gene Name: EGF containing fibulin extracellular matrix protein 2a
Gene Symbol: efemp2a    Nomenclature History

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Names: efemp2, fbln4 (1), fibulin 4 (1), wu:fb22f10, wu:fc49d09, zgc:103659

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Gene 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: Alliance (1),  Gene:494044 (1),  Ensembl(GRCz11):ENSDARG00000094324 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la018940Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa1694 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa15681 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42407 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    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
    DISEASE ASSOCIATED WITH efemp2a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process elastic fiber assembly (more)
    Cellular Component extracellular space (more)
    Molecular Function calcium ion binding (more)
    GO Terms (all 3)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA efemp2a-201 (1)    Ensembl 4993
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM efemp2a No data available
    MARKER RELATIONSHIPS
    efemp2a Contained in: [BAC] CH73-31A8 (1), CH211-145O7 (1)
    efemp2a Encodes: [EST] eu430 (1), fb22f10 (1), fc49d09
    [cDNA] MGC:103659 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001008587 (1) 1762 nt
    Genomic GenBank:CR626869 (1) 130128 nt
    Select Tool
    Polypeptide UniProtKB:A2CEN1 (1) 440 aa
    Sequence Information (all 15)
    ORTHOLOGY for efemp2a ( Chr: 14 )
    CITATIONS (28)