Property Summary

NCBI Gene PubMed Count 12
Grant Count 3
Funding $996,217.18
PubMed Score 19.72
PubTator Score 20.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
glioblastoma -1.100 0.000
adult high grade glioma -1.100 0.001
non primary Sjogren syndrome sicca 1.300 0.015

Gene RIF (8)

PMID Text
26604299 study describes members of a French-Canadian bilateral macronodular adrenal hyperplasia kindred with beta-adrenergic and V1-vasopressin regulation of cortisol including 7 with subclinical and 2 with clinical Cushing syndrome; a heterozygous germline ARMC5 mutation was identified in the index case that segregates with the disease
26214113 This is the first report demonstrating germline deletion of ARMC5 in familial primary macronodular adrenal hyperplasia.
25853793 ARMC5 germline mutations are common in primary macronodular adrenal hyperplasia(PBMAH).ARMC5 genotyping may help to identify clinical forms of PBMAH better and may also allow earlier diagnosis of this disease.
25822102 Germline ARMC5 variants may be associated with primary aldosteronism.
24905064 Our studies have detected ARMC5 mutations in 4 of 5 bilateral macronodular adrenal hyperplasia families tested.
24708098 Inherited autosomal dominant mutations in the ARMC5 gene are a frequent cause of primary macronodular adrenal hyperplasia. Biallelic inactivation of ARMC5 is consistent with its role as a potential tumor suppressor gene.
24601692 ARMC5 mutations are implicated in clinically severe Cushing's syndrome associated with Macronodular adrenal hyperplasia.
24283224 Some cases of corticotropin-independent macronodular adrenal hyperplasia appear to be genetic, most often with inactivating mutations of ARMC5.

AA Sequence

MAAAKPTLTDSLSFCLAQLAAAAGEALGGEKDPATNETPLSRALLALRTRHIKAAGGIERFRARGGLRPL      1 - 70
LALLRRAAAAGSAPSQAGPGSAPSSAASGASSPAPASGPAPSAVSSSSPTPPVRLRKTLDLALSILADCC     71 - 140
TEGACRTEVRRLGGILPLVTILQCMKTDSIQNRTARALGNLAMEPESCGDIHCAGAVPLLVESLTACQDS    141 - 210
QCLQSVVRALRNLADSPQHRLALAQQGAVRPLAELLATAPDAALTLALVRALLELSRGCSRACAEQLSLG    211 - 280
GGLGPLVSLASHPKRAVREGTILILANLCAQGLIRPALGNAGGVEVLVDELRQRRDPNGASPTSQQPLVR    281 - 350
AVCLLCREAINRARLRDAGGLDLLMGLLRDPRASAWHPRIVAALVGFLYDTGALGRLQALGLVPLLAGQL    351 - 420
CGEAGEEEEEGREAASWDFPEERTPERAQGGSFRSLRSWLISEGYATGPDDISPDWSPEQCPPEPMEPAS    421 - 490
PAPTPTSLRAPRTQRTPGRSPAAAIEEPWGREGPALLLLSRFSQAPDPSGALVTGPALYGLLTYVTGAPG    491 - 560
PPSPRALRILSRLTCNPACLEAFVRSYGAALLRAWLVLGVAPDDWPAPRARPTLHSRHRELGERLLQNLT    561 - 630
VQAESPFGVGALTHLLLSGSPEDRVACALTLPFICRKPSLWRRLLLEQGGLRLLLAALTRPAPHPLFLFF    631 - 700
AADSLSCLQDLVSPTVSPAVPQAVPMDLDSPSPCLYEPLLGPAPVPAPDLHFLLDSGLQLPAQRAASATA    701 - 770
SPFFRALLSGSFAEAQMDLVPLRGLSPGAAWPVLHHLHGCRGCGAALGPVPPPGQPLLGSEAEEALEAAG    771 - 840
RFLLPGLEEELEEAVGRIHLGPQGGPESVGEVFRLGRPRLAAHCARWTLGSEQCPRKRGLALVGLVEAAG    841 - 910
EEAGPLTEALLAVVMGIELGARVPA                                                 911 - 935
//

Text Mined References (16)

PMID Year Title
26604299 2016 ARMC5 mutations in a large French-Canadian family with cortisol-secreting ?-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia.
26214113 2015 GERMLINE DELETION OF ARMC5 IN FAMILIAL PRIMARY MACRONODULAR ADRENAL HYPERPLASIA.
25853793 2015 ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.
25822102 2015 Primary Aldosteronism and ARMC5 Variants.
24905064 2014 ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.
24739311 2014 Primary bilateral macronodular adrenal hyperplasia.
24708098 2014 ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.
24601692 2014 Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.
24283224 2013 ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
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