Format

Send to:

Choose Destination

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

Gene ID: 387715, updated on 23-Jul-2018

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; 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 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

Genomic context

See ARMS2 in Genome Data Viewer
Location:
10q26.13
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (122454653..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 RNA, U6 small nuclear 728, pseudogene Neighboring gene pleckstrin homology domain containing A1 Neighboring gene microRNA 3941 Neighboring gene uncharacterized LOC105378525 Neighboring gene uncharacterized LOC105378526 Neighboring gene HtrA serine peptidase 1 Neighboring gene deleted in malignant brain tumors 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

General gene information

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 

General protein information

Preferred Names
age-related maculopathy susceptibility protein 2

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.

Genomic

  1. NG_011725.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001099667.2NP_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
    P0C7Q2
    Related
    ENSP00000436682.1, OTTHUMP00000235364, ENST00000528446.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

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