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    efemp2b EGF containing fibulin extracellular matrix protein 2b [ Danio rerio (zebrafish) ]

    Gene ID: 572703, updated on 9-Dec-2024

    Summary

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    Official Symbol
    efemp2bprovided by ZNC
    Official Full Name
    EGF containing fibulin extracellular matrix protein 2bprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030219-125
    See related
    Ensembl:ENSDARG00000020811 AllianceGenome:ZFIN:ZDB-GENE-030219-125
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    CB257; fbln4; sb:cb257; id:ibd2923; wu:fc56c09; wu:fc56c09.x1
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in animal organ development. Predicted to be located in extracellular region. Is expressed in several structures, including hindbrain neural plate; mesoderm; musculature system; neural tube; and tail bud. 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). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See efemp2b in Genome Data Viewer
    Location:
    chromosome: 21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 21 NC_007132.7 (25588436..25604619, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 21 NC_007132.6 (25552307..25570097, complement)

    Chromosome 21 - NC_007132.7Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S12 Neighboring gene neuronal PAS domain protein 4b Neighboring gene fibroblast growth factor (acidic) intracellular binding protein b Neighboring gene FOS like 1, AP-1 transcription factor subunit b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Grass carp Ctenopharyngodon idella Fibulin-4 as a potential interacting partner for grass carp reovirus outer capsid proteins. Yu F, et al. Fish Shellfish Immunol, 2016 Jan. PMID 26626583
    2. Endothelial TGF-β signaling instructs smooth muscle cell development in the cardiac outflow tract. Boezio GL, et al. Elife, 2020 Sep 29. PMID 32990594, Free PMC Article
    3. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Marchegiani S, et al. Am J Hum Genet, 2015 Jul 2. PMID 26119818, Free PMC Article
    4. Expression screening and annotation of a zebrafish myoblast cDNA library. Baxendale S, et al. Gene Expr Patterns, 2009 Feb. PMID 19007914
    5. Phylogenetic and Expression Analysis of Fos Transcription Factors in Zebrafish. Kubra K, et al. Int J Mol Sci, 2022 Sep 3. PMID 36077499, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in animal organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    EGF-containing fibulin-like extracellular matrix protein 2b
    Names
    EGF containing fibulin-like extracellular matrix protein 2b
    fibulin 4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001160358.2 → NP_001153830.1  EGF-containing fibulin-like extracellular matrix protein 2b precursor

      See identical proteins and their annotated locations for NP_001153830.1

      Status: VALIDATED

      Source sequence(s)
      CR388166
      UniProtKB/TrEMBL
      B0JZM9, Q5WQV6, Q5WQV7
      Related
      ENSDARP00000042577.5, ENSDART00000042578.7
      Conserved Domains (3) summary
      smart00179
      Location:120 → 153
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:180 → 203
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:195 → 235
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007132.7 Reference GRCz11 Primary Assembly

      Range
      25588436..25604619 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068215928.1 → XP_068072029.1  EGF-containing fibulin-like extracellular matrix protein 2b isoform X1

      UniProtKB/TrEMBL
      B0JZM9, Q5WQV6, Q5WQV7

    2. XM_068215927.1 → XP_068072028.1  EGF-containing fibulin-like extracellular matrix protein 2b isoform X1

      UniProtKB/TrEMBL
      B0JZM9, Q5WQV6, Q5WQV7
      Related
      ENSDARP00000116946.1, ENSDART00000139460.3

    3. XM_068215926.1 → XP_068072027.1  EGF-containing fibulin-like extracellular matrix protein 2b isoform X1

      UniProtKB/TrEMBL
      B0JZM9, Q5WQV6, Q5WQV7
    Nucleotide Protein Strain
    Heading Accession and Version

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