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Protein

Age-related maculopathy susceptibility protein 2

Gene

ARMS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

GO - Biological processi

  • retina homeostasis Source: BHF-UCL

Names & Taxonomyi

Protein namesi
Recommended name:
Age-related maculopathy susceptibility protein 2
Gene namesi
Name:ARMS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000254636.1
HGNCiHGNC:32685 ARMS2
MIMi611313 gene
neXtProtiNX_P0C7Q2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Macular degeneration, age-related, 8 (ARMD8)11 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
See also OMIM:613778

Keywords - Diseasei

Age-related macular degeneration

Organism-specific databases

DisGeNETi387715
MalaCardsiARMS2
MIMi613778 phenotype
OpenTargetsiENSG00000254636
Orphaneti279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA162376896

Polymorphism and mutation databases

BioMutaiARMS2
DMDMi193806692

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003426681 – 107Age-related maculopathy susceptibility protein 2Add BLAST107

Proteomic databases

PaxDbiP0C7Q2
PRIDEiP0C7Q2
ProteomicsDBi52358

Expressioni

Tissue specificityi

Detected in retina and placenta.1 Publication

Gene expression databases

BgeeiENSG00000254636 Expressed in 55 organ(s), highest expression level in placenta
CleanExiHS_ARMS2

Organism-specific databases

HPAiHPA067225

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000436682

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410KCD9 Eukaryota
ENOG4110P33 LUCA
GeneTreeiENSGT00650000095054
InParanoidiP0C7Q2
OMAiPAAKIHT
OrthoDBiEOG091G0N7T

Sequencei

Sequence statusi: Complete.

P0C7Q2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLRLYPGPMV TEAEGKGGPE MASLSSSVVP VSFISTLRES VLDPGVGGEG
60 70 80 90 100
ASDKQRSKLS LSHSMIPAAK IHTELCLPAF FSPAGTQRRF QQPQHHLTLS

IIHTAAR
Length:107
Mass (Da):11,437
Last modified:July 1, 2008 - v1
Checksum:i2F8D3812B5DDF55F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0443303R → H. Corresponds to variant dbSNP:rs10490923EnsemblClinVar.1
Natural variantiVAR_04433169A → S11 PublicationsCorresponds to variant dbSNP:rs10490924EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX842242 Genomic DNA No translation available.
BC066349 mRNA No translation available.
EU427528 Genomic DNA Translation: ACA35288.1
CCDSiCCDS53585.1
RefSeqiNP_001093137.1, NM_001099667.1
UniGeneiHs.120359

Genome annotation databases

EnsembliENST00000528446; ENSP00000436682; ENSG00000254636
GeneIDi387715
KEGGihsa:387715
UCSCiuc001lgi.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX842242 Genomic DNA No translation available.
BC066349 mRNA No translation available.
EU427528 Genomic DNA Translation: ACA35288.1
CCDSiCCDS53585.1
RefSeqiNP_001093137.1, NM_001099667.1
UniGeneiHs.120359

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000436682

Polymorphism and mutation databases

BioMutaiARMS2
DMDMi193806692

Proteomic databases

PaxDbiP0C7Q2
PRIDEiP0C7Q2
ProteomicsDBi52358

Protocols and materials databases

DNASUi387715
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000528446; ENSP00000436682; ENSG00000254636
GeneIDi387715
KEGGihsa:387715
UCSCiuc001lgi.4 human

Organism-specific databases

CTDi387715
DisGeNETi387715
EuPathDBiHostDB:ENSG00000254636.1
GeneCardsiARMS2
HGNCiHGNC:32685 ARMS2
HPAiHPA067225
MalaCardsiARMS2
MIMi611313 gene
613778 phenotype
neXtProtiNX_P0C7Q2
OpenTargetsiENSG00000254636
Orphaneti279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA162376896
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KCD9 Eukaryota
ENOG4110P33 LUCA
GeneTreeiENSGT00650000095054
InParanoidiP0C7Q2
OMAiPAAKIHT
OrthoDBiEOG091G0N7T

Miscellaneous databases

GeneWikiiARMS2
GenomeRNAii387715
PROiPR:P0C7Q2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000254636 Expressed in 55 organ(s), highest expression level in placenta
CleanExiHS_ARMS2

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiARMS2_HUMAN
AccessioniPrimary (citable) accession number: P0C7Q2
Secondary accession number(s): B2Y7I5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: July 1, 2008
Last modified: November 7, 2018
This is version 64 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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