ZFIN ID: ZDB-GENE-030219-125
Gene Name: EGF containing fibulin extracellular matrix protein 2b
Gene Symbol: efemp2b
Sequence Ontology ID : SO:0000704

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Previous Names: id:ibd2923, sb:cb257, wu:fc56c09

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(Including Attributions)
Location: Chr: 21 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Predicted to have calcium ion binding activity; predicted to be involved in elastic fiber assembly; predicted to localize to the extracellular space; orthologous to human EFEMP2 (EGF containing  ...
GENE EXPRESSION
All Expression Data: 11 figures from 4 publications
Directly Submitted Expression Data: 6 figures (9 images) from Thisse et al., 2001 [cb257]
  3 figures (4 images) from Kudoh et al., 2001 [ibd2923]
Wild-type Stages, Structures: Gastrula:50%-epiboly (5.25h-5.66h) to Hatching:Long-pec (48.0h-60.0h)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTSNo data available
PHENOTYPE No data available
DISEASE ASSOCIATED WITH efemp2b HUMAN ORTHOLOG
Disease Ontology Term OMIM Term OMIM Phenotype ID
autosomal recessive cutis laxa type IB Cutis laxa, autosomal recessive, type IB 614437
cutis laxa Cutis laxa, autosomal recessive, type IB 614437
DISEASE ASSOCIATED WITH efemp2b 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
  • InterPro:IPR000152 (1)
  • InterPro:IPR000742 (1)
  • InterPro:IPR001881 (1)
  • InterPro:IPR009030 (1)
  • InterPro:IPR013032 (1)
  • InterPro:IPR018097 (1)
  • InterPro:IPR026823 (1)
  • InterPro:IPR026824 (1)
  • InterPro:IPR037287 (1)
  • PROSITE:PS00010 (1)
  • PROSITE:PS01186 (1)
  • PROSITE:PS01187 (1)
  • PROSITE:PS50026 (1)
  • Pfam:PF07645 (1)
  • Pfam:PF12662 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA efemp2b-001 (1) 3344
    efemp2b-002 (1) 823
    ncRNA efemp2b-003 (1) 608
    efemp2b-004 (1) 660
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYS
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM efemp2b No data available
    MARKER RELATIONSHIPS
    efemp2bContained in: [BAC] CH73-336D18 (order this), DKEY-17E16 (1) (order this)
    efemp2bEncodes: [EST] cb257 (1) (order this), fc56c09, ibd2923 (order this)
    [cDNA] MGC:175181 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001160358 (1)
    Genomic GenBank:FP236853 (1) 404522bp Blast at MegaBLAST
    Polypeptide UniProtKB:Q5WQV6 (1) 440aa
    Sequence Clusters UniGene:56600 (1)
    Sequence Information (all 19)
    OTHER efemp2b GENE PAGES
  • Alliance (1)
  • Gene:572703 (1)
  • VEGA:OTTDARG00000021020 (1)
  • Ensembl(GRCz11):ENSDARG00000020811 (2)
  • ORTHOLOGY for efemp2b (Chr: 21)
    CITATIONS (21)