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
377177372024Critical Dependence on Area in Relationship between ARMS2/HTRA1 Genotype and Faster Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report Number 33.0
377177372024Critical Dependence on Area in Relationship between ARMS2/HTRA1 Genotype and Faster Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report Number 33.0
364812212023Reticular Pseudodrusen Status, ARMS2/HTRA1 Genotype, and Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report 32.8
365815312023Exploring the contribution of ARMS2 and HTRA1 genetic risk factors in age-related macular degeneration.7
367340652023Associations of ARMS2 and NR3C2 genes polymorphisms with central serous chorioretinopathy in a Greek population.0
370852332023Disentangling the Impact of Reticular Pseudodrusen Phenotype and the ARMS2/HTRA1 Risk Allele in Geographic Atrophy: The AREDS 2 Study Report 32.0
364812212023Reticular Pseudodrusen Status, ARMS2/HTRA1 Genotype, and Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report 32.8
365815312023Exploring the contribution of ARMS2 and HTRA1 genetic risk factors in age-related macular degeneration.7
367340652023Associations of ARMS2 and NR3C2 genes polymorphisms with central serous chorioretinopathy in a Greek population.0
370852332023Disentangling the Impact of Reticular Pseudodrusen Phenotype and the ARMS2/HTRA1 Risk Allele in Geographic Atrophy: The AREDS 2 Study Report 32.0
352362462022Role of CFH Y402H and ARMS2 A69S polymorphisms in susceptibility to post rhegmatogenous retinal detachment macular complications.0
352402032022The Phenotypic Course of Age-Related Macular Degeneration for ARMS2/HTRA1: The EYE-RISK Consortium.9
352362462022Role of CFH Y402H and ARMS2 A69S polymorphisms in susceptibility to post rhegmatogenous retinal detachment macular complications.0
352402032022The Phenotypic Course of Age-Related Macular Degeneration for ARMS2/HTRA1: The EYE-RISK Consortium.9
324289132021Meta-Analysis of the Pharmacogenetics of ARMS2 A69S Polymorphism and the Response to Advanced Age-Related Macular Degeneration.7

Citation

Dessen P

ARMS2 (age-related maculopathy susceptibility 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56007/js/lib/all.min.js