ARMS2
entrez
387715
canonical
uniprot
P0C7Q2
canonical
ensembl
ENSG00000254636
resolver
ensp
ENSP00000436682
resolver
enst
ENST00000528446
resolver
genesymbol
ARMS2
resolver
hgnc
HGNC:32685
resolver
uniprot
B2Y7I5
resolver
uniprot_entry
ARMS2_HUMAN
resolver
uniprot_sec
B2Y7I5
resolver
amino_acid_sequence
MLRLYPGPMVTEAEGKGGPEMASLSSSVVPVSFISTLRESVLDPGVGGEGASDKQRSKLSLSHSMIPAAKIHTELCLPAFFSPAGTQRRFQQPQHHLTLSIIHTAAR
uniprot
proteins
disease_involvement
DISEASE: Macular degeneration, age-related, 8 (ARMD8) [MIM:613778]: A 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. {ECO:0000269|PubMed:16174643, ECO:0000269|PubMed:16642439, ECO:0000269|PubMed:16936732, ECO:0000269|PubMed:17000705, ECO:0000269|PubMed:17053108, ECO:0000269|PubMed:17210852, ECO:0000269|PubMed:17675241, ECO:0000269|PubMed:17884985, ECO:0000269|PubMed:18423869, ECO:0000269|PubMed:18436811, ECO:0000269|PubMed:18452766}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
11437
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16174643
uniprot
proteins
pubmed
16642439
uniprot
proteins
pubmed
16936732
uniprot
proteins
pubmed
17000705
uniprot
proteins
pubmed
17053108
uniprot
proteins
pubmed
17210852
uniprot
proteins
pubmed
17485225
uniprot
proteins
pubmed
17675241
uniprot
proteins
pubmed
17884985
uniprot
proteins
pubmed
18423869
uniprot
proteins
pubmed
18436811
uniprot
proteins
pubmed
18452766
uniprot
proteins
pubmed
18511946
uniprot
proteins
pubmed
19255159
uniprot
proteins
sequence_length
107
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16174643, ECO:0000269|PubMed:19255159}.
uniprot
proteins