Property Summary

NCBI Gene PubMed Count 11
Grant Count 1
Funding $10,166.67
PubMed Score 13.11
PubTator Score 2.38

Knowledge Summary

Patent (1,034)

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.138 0.000

Synonym

Accession Q96D53 Q8TAJ1 Q9HA52
Symbols ADCK4
NPHS9

Gene

PANTHER Protein Class (1)

 Grant Application (1)

 Collection (1)

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (2)

PMID Text
24270420 Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with steroid-resistant nephrotic syndrome & transformed lymphoblasts.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQKFYQDGPGRGLGEEDIRRAREARPRKT      1 - 70
PRPQLSDRSRERKVPASRISRLANFGGLAVGLGLGVLAEMAKKSMPGGRLQSEGGSGLDSSPFLSEANAE     71 - 140
RIVQTLCTVRGAALKVGQMLSIQDNSFISPQLQHIFERVRQSADFMPRWQMLRVLEEELGRDWQAKVASL    141 - 210
EEVPFAAASIGQVHQGLLRDGTEVAVKIQYPGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQALQQE    211 - 280
LAWECDYRREAACAQNFRQLLANDPFFRVPAVVKELCTTRVLGMELAGGVPLDQCQGLSQDLRNQICFQL    281 - 350
LTLCLRELFEFRFMQTDPNWANFLYDASSHQVTLLDFGASREFGTEFTDHYIEVVKAAADGDRDCVLQKS    351 - 420
RDLKFLTGFETKAFSDAHVEAVMILGEPFATQGPYDFGSGETARRIQDLIPVLLRHRLCPPPEETYALHR    421 - 490
KLAGAFLACAHLRAHIACRDLFQDTYHRYWASRQPDAATAGSLPTKGDSWVDPS                    491 - 544
//

Text Mined References (17)

PMID Year Title
27499296 2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
27499294 2016 Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.
25967120 2016 ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25216398 2014 A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3.
24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
22081228 2011 Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
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