ARMS2 (age-related maculopathy susceptibility 2)

2016-10-01  

Identity

HGNC
ARMS2
LOCATION
10q26.13
LOCUSID
387715
ALIAS
ARMD8

Other Information

Locus ID:

NCBI: 387715
MIM: 611313
HGNC: 32685
Ensembl: ENSG00000254636

Variants:

dbSNP: 387715
ClinVar: 387715
TCGA: ENSG00000254636
COSMIC: ARMS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000254636ENST00000528446P0C7Q2

Expression (GTEx)

0
1
2
3
4
5
6
7
8
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA130232992bevacizumabChemicalClinicalAnnotationassociatedPD22594510
PA134850558Macular DegenerationDiseaseClinicalAnnotationassociatedPD22594510

References

Pubmed IDYearTitleCitations
161746432005Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.263
203858192010Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.246
178849852007A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.160
178849852007A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.160
191179362009Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.121
191973552009Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers.111
196612362009Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.107
166424392006Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.106
174568212007Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration.103
180546352007Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab.62

Citation

Dessen P

ARMS2 (age-related maculopathy susceptibility 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56007/arms2