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    ARMS2 age-related maculopathy susceptibility 2 [ Homo sapiens (human) ]

    Gene ID: 387715, updated on 9-Jun-2016
    Official Symbol
    ARMS2provided by HGNC
    Official Full Name
    age-related maculopathy susceptibility 2provided by HGNC
    Primary source
    HGNC:HGNC:32685
    See related
    Ensembl:ENSG00000254636 MIM:611313; Vega:OTTHUMG00000048232
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARMD8
    Summary
    This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008]
    Orthologs
    Location:
    10q26.13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (122454663..122457352)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124214179..124216868)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing A1 Neighboring gene uncharacterized LOC105378524 Neighboring gene microRNA 3941 Neighboring gene uncharacterized LOC105378525 Neighboring gene HtrA serine peptidase 1 Neighboring gene uncharacterized LOC105378526 Neighboring gene deleted in malignant brain tumors 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Age-related macular degeneration 8
    MedGen: C3151070 OMIM: 613778 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    NHGRI GWA Catalog
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    NHGRI GWA Catalog
    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
    NHGRI GWA Catalog
    Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
    NHGRI GWA Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    NHGRI GWA Catalog
    Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
    NHGRI GWA Catalog
    Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
    NHGRI GWA Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    NHGRI GWA Catalog
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    retina homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    age-related maculopathy susceptibility protein 2

    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.

    Genomic

    1. NG_011725.1 RefSeqGene

      Range
      5001..7690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001099667.1NP_001093137.1  age-related maculopathy susceptibility protein 2

      See identical proteins and their annotated locations for NP_001093137.1

      Status: REVIEWED

      Source sequence(s)
      BC066349, BC090924
      Consensus CDS
      CCDS53585.1
      UniProtKB/Swiss-Prot
      P0C7Q2
      Related
      ENSP00000436682, OTTHUMP00000235364, ENST00000528446, OTTHUMT00000109727

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      122454663..122457352
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      124498769..124501460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)