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    MEGF9 multiple EGF like domains 9 [ Homo sapiens (human) ]

    Gene ID: 1955, updated on 17-Jun-2019

    Summary

    Official Symbol
    MEGF9provided by HGNC
    Official Full Name
    multiple EGF like domains 9provided by HGNC
    Primary source
    HGNC:HGNC:3234
    See related
    Ensembl:ENSG00000106780 MIM:604268
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EGFL5
    Expression
    Ubiquitous expression in thyroid (RPKM 22.6), brain (RPKM 20.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See MEGF9 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (120600811..120714470, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (123363196..123476765, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376253 Neighboring gene CDK5 regulatory subunit associated protein 2 Neighboring gene NFE2L2 motif-containing MPRA enhancer 171 Neighboring gene adenosylhomocysteinase pseudogene 2 Neighboring gene F-box and WD repeat domain containing 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    NHGRI GWA Catalog

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    animal organ morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    biological_process ND
    No biological Data available
    more info
     
    cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    substrate adhesion-dependent cell spreading IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    basement membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular_component ND
    No biological Data available
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    multiple epidermal growth factor-like domains protein 9
    Names
    EGF-like-domain, multiple 5
    epidermal growth factor-like protein 5

    NCBI Reference Sequences (RefSeq)

    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_001080497.3NP_001073966.2  multiple epidermal growth factor-like domains protein 9 precursor

      See identical proteins and their annotated locations for NP_001073966.2

      Status: VALIDATED

      Source sequence(s)
      AB011542, AJ420444, AK295380, AL138836, BC016989, CK300579
      Consensus CDS
      CCDS48010.2
      UniProtKB/Swiss-Prot
      Q9H1U4
      Related
      ENSP00000363040.3, ENST00000373930.4
      Conserved Domains (2) summary
      cd00055
      Location:204252
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      pfam00053
      Location:254301
      Laminin_EGF; Laminin EGF domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      120600811..120714470 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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