UniProtKB - P0C7Q2 (ARMS2_HUMAN)
Protein
Age-related maculopathy susceptibility protein 2
Gene
ARMS2
Organism
Homo sapiens (Human)
Status
Functioni
GO - Biological processi
- retina homeostasis Source: BHF-UCL
Enzyme and pathway databases
PathwayCommonsi | P0C7Q2 |
Names & Taxonomyi
Protein namesi | Recommended name: Age-related maculopathy susceptibility protein 2 |
Gene namesi | Name:ARMS2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:32685, ARMS2 |
MIMi | 611313, gene |
neXtProti | NX_P0C7Q2 |
VEuPathDBi | HostDB:ENSG00000254636.1 |
Subcellular locationi
Other locations
- Cytoplasm 2 Publications
Mitochondrion
- mitochondrion Source: BHF-UCL
Other locations
- photoreceptor inner segment Source: BHF-UCL
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Macular degeneration, age-related, 8 (ARMD8)11 Publications
Disease susceptibility is associated with variants 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.
Related information in OMIMKeywords - Diseasei
Age-related macular degenerationOrganism-specific databases
DisGeNETi | 387715 |
MalaCardsi | ARMS2 |
MIMi | 613778, phenotype |
OpenTargetsi | ENSG00000254636 |
Orphaneti | 279, NON RARE IN EUROPE: Age-related macular degeneration |
PharmGKBi | PA162376896 |
Miscellaneous databases
Pharosi | P0C7Q2, Tbio |
Genetic variation databases
BioMutai | ARMS2 |
DMDMi | 193806692 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000342668 | 1 – 107 | Age-related maculopathy susceptibility protein 2Add BLAST | 107 |
Proteomic databases
PaxDbi | P0C7Q2 |
PRIDEi | P0C7Q2 |
ProteomicsDBi | 52358 |
Expressioni
Tissue specificityi
Detected in retina and placenta.1 Publication
Gene expression databases
Bgeei | ENSG00000254636, Expressed in placenta and 73 other tissues |
Organism-specific databases
HPAi | ENSG00000254636, Group enriched (placenta, testis) |
Interactioni
Binary interactionsi
Hide detailsProtein-protein interaction databases
IntActi | P0C7Q2, 10 interactors |
STRINGi | 9606.ENSP00000436682 |
Miscellaneous databases
RNActi | P0C7Q2, protein |
Family & Domainsi
Phylogenomic databases
eggNOGi | ENOG502TERZ, Eukaryota |
GeneTreei | ENSGT00650000095054 |
HOGENOMi | CLU_2222374_0_0_1 |
InParanoidi | P0C7Q2 |
OMAi | CLPAFFS |
OrthoDBi | 1496601at2759 |
i Sequence
Sequence statusi: Complete.
P0C7Q2-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLRLYPGPMV TEAEGKGGPE MASLSSSVVP VSFISTLRES VLDPGVGGEG
60 70 80 90 100
ASDKQRSKLS LSHSMIPAAK IHTELCLPAF FSPAGTQRRF QQPQHHLTLS
IIHTAAR
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_044330 | 3 | R → H. Corresponds to variant dbSNP:rs10490923EnsemblClinVar. | 1 | |
Natural variantiVAR_044331 | 69 | A → 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 |
CCDSi | CCDS53585.1 |
RefSeqi | NP_001093137.1, NM_001099667.1 |
Genome annotation databases
Ensembli | ENST00000528446; ENSP00000436682; ENSG00000254636 |
GeneIDi | 387715 |
KEGGi | hsa:387715 |
UCSCi | uc001lgi.4, human |
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 |
CCDSi | CCDS53585.1 |
RefSeqi | NP_001093137.1, NM_001099667.1 |
3D structure databases
SMRi | P0C7Q2 |
ModBasei | Search... |
Protein-protein interaction databases
IntActi | P0C7Q2, 10 interactors |
STRINGi | 9606.ENSP00000436682 |
Genetic variation databases
BioMutai | ARMS2 |
DMDMi | 193806692 |
Proteomic databases
PaxDbi | P0C7Q2 |
PRIDEi | P0C7Q2 |
ProteomicsDBi | 52358 |
Protocols and materials databases
Antibodypediai | 53254, 64 antibodies |
DNASUi | 387715 |
Genome annotation databases
Ensembli | ENST00000528446; ENSP00000436682; ENSG00000254636 |
GeneIDi | 387715 |
KEGGi | hsa:387715 |
UCSCi | uc001lgi.4, human |
Organism-specific databases
CTDi | 387715 |
DisGeNETi | 387715 |
GeneCardsi | ARMS2 |
HGNCi | HGNC:32685, ARMS2 |
HPAi | ENSG00000254636, Group enriched (placenta, testis) |
MalaCardsi | ARMS2 |
MIMi | 611313, gene 613778, phenotype |
neXtProti | NX_P0C7Q2 |
OpenTargetsi | ENSG00000254636 |
Orphaneti | 279, NON RARE IN EUROPE: Age-related macular degeneration |
PharmGKBi | PA162376896 |
VEuPathDBi | HostDB:ENSG00000254636.1 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502TERZ, Eukaryota |
GeneTreei | ENSGT00650000095054 |
HOGENOMi | CLU_2222374_0_0_1 |
InParanoidi | P0C7Q2 |
OMAi | CLPAFFS |
OrthoDBi | 1496601at2759 |
Enzyme and pathway databases
PathwayCommonsi | P0C7Q2 |
Miscellaneous databases
BioGRID-ORCSi | 387715, 4 hits in 874 CRISPR screens |
GeneWikii | ARMS2 |
GenomeRNAii | 387715 |
Pharosi | P0C7Q2, Tbio |
PROi | PR:P0C7Q2 |
RNActi | P0C7Q2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000254636, Expressed in placenta and 73 other tissues |
Family and domain databases
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ARMS2_HUMAN | |
Accessioni | P0C7Q2Primary (citable) accession number: P0C7Q2 Secondary accession number(s): B2Y7I5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 2008 |
Last sequence update: | July 1, 2008 | |
Last modified: | February 10, 2021 | |
This is version 76 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot