Property Summary

NCBI Gene PubMed Count 22
Grant Count 3
Funding $259,036
PubMed Score 24.90
PubTator Score 18.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 1.700 0.000
ovarian cancer 2.000 0.000

Synonym

Accession P53680 B2R4Z4 O75977 Q6PK67
Symbols AP17
FBH3
HHC3
FBHOk
CLAPS2

Gene

Gene RIF (19)

PMID Text
26082470 our studies demonstrate AP2sigma2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue.
24731014 The results affirm that a significant number of patients suspected of having Familial hypocalciuric hypercalcemia but proven negative for CASR mutation have AP2S1 p.R15 mutations.
24708097 The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that autosomal dominant hypocalcemia 3 (ADH3) may not occur or otherwise represents a rare hypocalcemic disorder.
24473078 Mutation of Arg to Glu at position 134 in HIV-1 Nef abolishes its binding to the AP-2 alpha1-sigma2 hemicomplex
24473078 Mutation of Arg to Glu at position 134 in HIV-1 Nef abolishes its binding to the AP-2 alpha1-sigma2 hemicomplex
24423332 None of the 60 patients presented with nucleotidic changes or copy number variation in the AP2S1 gene, thereby excluding AP2S1 defects as a frequent cause of isolated hypoparathyroidism.
23222959 Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
23151229 Mutation of Arg to Glu at position 134 in HIV-1 Nef abolishes its binding to the AP-2 alpha1-sigma2 hemicomplex
23077317 Mutation of Arg to Glu at position 134 in HIV-1 Nef abolishes its binding to the AP-2 alpha1-sigma2 hemicomplex
23077317 Mutation of Arg to Glu at position 134 in HIV-1 Nef abolishes its binding to the AP-2 alpha1-sigma2 hemicomplex
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AA Sequence

MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYRRYAGLYFCIC      1 - 70
VDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLAGEIRETSQTKVLKQLLMLQS     71 - 140
LE                                                                        141 - 142
//

Text Mined References (30)

PMID Year Title
26082470 2015 Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
25416956 2014 A proteome-scale map of the human interactome network.
24731014 2014 Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.
24708097 2014 Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
24423332 2014 Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24081735 2013 Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.
23222959 2013 Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
21269460 2011 Initial characterization of the human central proteome.
19033387 2008 The adaptor complex AP-2 regulates post-endocytic trafficking through the non-clathrin Arf6-dependent endocytic pathway.
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