ARMC5 (armadillo repeat containing 5)

2015-02-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
AIMAH2
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382256312024ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.0
385551082024Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms.0
386303872024Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series.0
382256312024ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.0
385551082024Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms.0
386303872024Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series.0
367275802023New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).1
370431002023Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease.0
376254482023Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.0
367275802023New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).1
370431002023Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease.0
376254482023Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.0
355217002022Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.2
356871062022ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.3
360408302022Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover.2

Citation

Dessen P

ARMC5 (armadillo repeat containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55037/armc5-(armadillo-repeat-containing-5)