ARMS2 Gene
protein-coding GIFtS: 37
GCID: GC10P124205
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age-related maculopathy susceptibility 2
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Aliases
for ARMS2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Age-Related Maculopathy Susceptibility 21 2 | | ARMD81 2 5 | | LOC3877151 5 | | Age-Related Maculopathy Susceptibility Protein 22 |
Export aliases for ARMS2 gene to outside databasesPrevious GC identifer: GC10P117844 |
Summaries
for ARMS2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ARMS2:
This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have beenassociated with age-related macular degeneration. (provided by RefSeq, Oct 2008)
Gene Wiki entry for ARMS2
|
Genomic Views
for ARMS2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ARMS2 gene promoter:
NF-1 NF-1/L Pax-5 E47 CREB MEF-2A N-Myc deltaCREB aMEF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for ARMS2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARMS2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q26.13 Ensembl cytogenetic band: 10q26.13 HGNC cytogenetic band: 10q26.13ARMS2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P124205: view genomic region
(about GC identifiers)
Start:
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124,214,169 bp from pter |
End:
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124,216,868 bp from pter |
Size:
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2,700 bases |
Orientation:
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plus strand |
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Proteins
for ARMS2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ARMS2_HUMAN, P0C7Q2 (See
protein sequence)Recommended Name: Age-related maculopathy susceptibility protein 2 Size: 107 amino acids; 11437 Da
Subcellular location: Cytoplasm
Secondary accessions: B2Y7I5Explore the universe of human proteins at neXtProt for ARMS2: NX_P0C7Q2
ARMS2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001093137.1
ENSEMBL proteins: ENSP00000436682
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
ARMS2 for ontologies About GeneDecksing
ARMS2 Antibody Products:
Assay Products for ARMS2: |
Protein
Domains /
Families
for ARMS2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: P0C7Q2 |
Function
for ARMS2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARMS2
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARMS2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for ARMS2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARMS2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARMS2 |
|
Pathways & Interactions
for ARMS2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARMS2
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
ARMS2 for ontologies About GeneDecksing
|
Drugs & Compounds
for ARMS2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ARMS2
Search CenterWatch for drugs/clinical trials and news about ARMS2
|
Transcripts
for ARMS2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ARMS2 gene: NM_001099667.1 Unigene Cluster for ARMS2: Age-related maculopathy susceptibility 2 Hs.120359 [show with all ESTs]Unigene Representative Sequence: CB9983031 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000528446(uc001lgi.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARMS2
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARMS2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ARMS2 (NM_001099667) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARMS2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARMS2 |
Additional cDNA sequence: BC066349.1 BC090924.1 1 DOTS entry: DT.422618 19 AceView cDNA sequences: CB997927 AI167912 BC066349 CB998303 BG206949 CB997971 CB993395 BU751733 BG201701 BG210064 BG185707 BG182059 BG204293 BG201192 BG216326 BG195069 R23880 H00398 BG194076
GeneLoc Exon Structure
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Expression
for ARMS2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ARMS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCCCAGCTG
About this image
See ARMS2 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.120359
UniProtKB/Swiss-Prot: ARMS2_HUMAN, P0C7Q2Tissue specificity: Detected in retina and placenta
SABiosciences Custom PCR Arrays for ARMS2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARMS2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat ARMS2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARMS2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARMS2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARMS2 |
Orthologs
for ARMS2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
--
ENSEMBL Gene Tree for ARMS2 (if available)
TreeFam Gene Tree for ARMS2 (if available) |
Paralogs
for ARMS2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ARMS2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for ARMS2 (124214169 - 124216868 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ARMS2
2 Indels: 61069 65802
Human Gene Mutation Database (HGMD): ARMS2
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for ARMS2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ARMS2 for disorders About GeneDecksing
OMIM gene information: 611313
OMIM disorders: --
UniProtKB/Swiss-Prot: ARMS2_HUMAN, P0C7Q2
Defects in ARMS2 influence susceptibility to age-related macular degeneration type 8 (ARMD8) [MIM:613778].ARMD is the most common cause of irreversible vision loss in the developed world. In most patients, the disease ismanifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that liebeneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch's membrane. ARMD islikely to be a mechanistically heterogeneous group of disorders, and the specific disease mechanisms that underlie thevast majority of cases are currently unknown. However, a number of studies have suggested that both genetic andenvironmental factors are likely to play a role
14  diseases for ARMS2: About MalaCardsage-related maculopathy age related macular degeneration macular degeneration maculopathy
multifocal choroiditis retinal drusen choroiditis protein s deficiency
retinitis retinal disease twinning alzheimer's disease
atherosclerosis hepatitis
Human Genome Epidemiology (HuGE) Navigator: ARMS2 (86 documents)
Export disorders for ARMS2 gene to outside databases
|
Publications
for ARMS2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ARMS2 gene, integrated from 9 sources (see all 135):
(articles sorted by number of sources associating them with ARMS2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Hypothetical LOC387715 is a second major susceptibility gene for age- related macular degeneration, contributing independently of complement factor H to disease risk. (PubMed id 16174643)1, 2, 3 Rivera A.... Weber B.H.F. (2005)
- Age-Related Macular Degeneration Associated ARMS2 is not a Mitochondrial but Cytosolic Protein. (PubMed id 19255159)1, 2 Wang G....Pericak-Vance M.A. (2009)
- Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. (PubMed id 18436811)1, 2 Kaur I.... Chakrabarti S. (2008)
- CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. (PubMed id 18423869)1, 2 Klein M.L.... Seddon J.M. (2008)
- Age-related macular degeneration genetics. (PubMed id 18452766)1, 2 Recalde S....Garcia-Layana A. (2008)
- Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. (PubMed id 18511946)1, 2 Fritsche L.G....Weber B.H. (2008)
- The LOC387715 polymorphism, inflammatory markers, smoking, and age- related macular degeneration. A population-based case-control study. (PubMed id 17675241)1, 2 Wang J.J.... Mitchell P. (2008)
- A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. (PubMed id 17884985)1, 2 Kanda A.... Swaroop A. (2007)
- Expression of recombinant protein encoded by LOC387715 in Escherichia coli. (PubMed id 17485225)1, 2 Chen D....Edwards A.O. (2007)
- Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. (PubMed id 16642439)1, 2 Schmidt S.... Pericak-Vance M.A. (2006)
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External Searches for ARMS2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing ARMS2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
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Other Databases showing ARMS2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ARMS2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ARMS2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARMS2 |
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About This Section
| Patent Information for ARMS2 gene:
Search GeneIP for patents involving ARMS2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ARMS2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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 | |
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| | |  | Browse OriGene Antibodies | | Browse OriGene shRNA RFPs | | | Browse OriGene 29mer shRNA kits in GFP-retroviral vector | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARMS2 | | | OriGene Protein Over-expression Lysate for ARMS2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARMS2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARMS2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for ARMS2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ARMS2 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARMS2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARMS2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARMS2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARMS2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARMS2 |
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 | | | ARMS2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARMS2 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARMS2 |
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