ARMC5 (armadillo repeat containing 5)

2015-02-01  

Identity

HGNC
ARMC5
LOCATION
16p11.2
LOCUSID
79798
ALIAS
AIMAH2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79798
MIM: 615549
HGNC: 25781
Ensembl: ENSG00000140691

Variants:

dbSNP: 79798
ClinVar: 79798
TCGA: ENSG00000140691
COSMIC: ARMC5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140691ENST00000268314Q96C12
ENSG00000140691ENST00000408912J3KQ26
ENSG00000140691ENST00000457010Q96C12
ENSG00000140691ENST00000538189Q96C12
ENSG00000140691ENST00000563544Q96C12
ENSG00000140691ENST00000564514A0A1D5RMU3
ENSG00000140691ENST00000564900H3BS74

Expression (GTEx)

0
5
10
15
20
25
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
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

References

Pubmed IDYearTitleCitations
242832242013ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.72
246016922014Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.33
247080982014ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.26
249050642014ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.25
258537932015ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.23
258221022015Primary Aldosteronism and ARMC5 Variants.20
270943082017A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.8
264463922016ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.6
266042992016ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia.6
275684652017Analysis of ARMC5 expression in human tissues.5

Citation

Dessen P

ARMC5 (armadillo repeat containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55037/armc5