U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 387715, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:32685
    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 small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]
    Expression
    Biased expression in testis (RPKM 1.0), placenta (RPKM 1.0) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARMS2 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (122454653..122457352)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123350887..123353568)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124214169..124216868)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 728, pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:124128134-124128658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2893 Neighboring gene pleckstrin homology domain containing A1 Neighboring gene microRNA 3941 Neighboring gene HTRA1 and ARMS2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124233495-124234018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124234019-124234540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124235637-124236362 Neighboring gene HtrA serine peptidase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:124253973-124255172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124264199-124264698 Neighboring gene deleted in malignant brain tumors 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:124398858-124400057

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in retina homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    age-related maculopathy susceptibility protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4991..7690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001099667.3NP_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, CB997927
      Consensus CDS
      CCDS53585.1
      UniProtKB/Swiss-Prot
      B2Y7I5, P0C7Q2
      Related
      ENSP00000436682.1, ENST00000528446.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      122454653..122457352
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      123350887..123353568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)