Property Summary

NCBI Gene PubMed Count 28
PubMed Score 30.44
PubTator Score 22.08

Knowledge Summary

Patent (1,927)

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
Breast cancer 3099 3.1667461401843E-122
psoriasis 6685 2.82044695150531E-14
atypical teratoid/rhabdoid tumor 1095 6.27448710818031E-14
sonic hedgehog group medulloblastoma 1482 9.48806412966139E-11
posterior fossa group A ependymoma 1511 1.63512198566325E-8
lung cancer 4473 7.82183180446965E-8
intraductal papillary-mucinous carcinoma (IPMC) 2988 4.96166318451508E-7
intraductal papillary-mucinous adenoma (IPMA) 2956 1.77853347951093E-6
medulloblastoma, large-cell 6234 3.96017213835606E-6
malignant mesothelioma 3163 1.10167335615068E-5
intraductal papillary-mucinous neoplasm (IPMN) 3289 8.58868678074783E-4
pilocytic astrocytoma 3086 0.00160731872769847
pancreatic cancer 2300 0.00309666652863369
chronic rhinosinusitis 512 0.00336787245993097
breast carcinoma 1614 0.00395166816667049
primary Sjogren syndrome 789 0.00659447642669539
ductal carcinoma in situ 1745 0.00886085500218431
subependymal giant cell astrocytoma 2287 0.0102177203580966
nephrosclerosis 329 0.0118352270674769
cystic fibrosis and chronic rhinosinusitis 213 0.0138753208776995
oligodendroglioma 2849 0.0145205618918076
pituitary cancer 1972 0.0146368297459998
gastric carcinoma 832 0.0348146550160161
invasive ductal carcinoma 2950 0.0356557774421736
primitive neuroectodermal tumor 3031 0.0432360046575253
adult high grade glioma 2148 0.0482217321138668

Expression

Synonym

Accession Q9NPI9
Symbols BIR9
KIR5.1

Gene

  Ortholog (12)

  TechDev Info (1)

Jing-Ruey Yeh gRNA validated for zebrafish model, zebrafish mutant available

Gene RIF (5)

PMID Text
26663529 Variability has been found in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel approximately 1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
25339316 Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients
24193250 study provides an explanation for the pathophysiology of the p.A167V KCNJ10 mutation, which had not been considered pathogenic on its own; findings provide evidence for functional cooperation of KCNJ10 and KCNJ16; in vitro ascertainment of KCNJ10 function may necessitate co-expression with KCNJ16
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSYYGSSYHIINADAKYPGYPPEHIIAEKRRARRRLLHKDGSCNVYFKHIFGEWGSYVVDIFTTLVDTKW      1 - 70
RHMFVIFSLSYILSWLIFGSVFWLIAFHHGDLLNDPDITPCVDNVHSFTGAFLFSLETQTTIGYGYRCVT     71 - 140
EECSVAVLMVILQSILSCIINTFIIGAALAKMATARKRAQTIRFSYFALIGMRDGKLCLMWRIGDFRPNH    141 - 210
VVEGTVRAQLLRYTEDSEGRMTMAFKDLKLVNDQIILVTPVTIVHEIDHESPLYALDRKAVAKDNFEILV    211 - 280
TFIYTGDSTGTSHQSRSSYVPREILWGHRFNDVLEVKRKYYKVNCLQFEGSVEVYAPFCSAKQLDWKDQQ    281 - 350
LHIEKAPPVRESCTSDTKARRRSFSAVAIVSSCENPEETTTSATHEYRETPYQKALLTLNRISVESQM      351 - 418
//

Text Mined References (29)

PMID Year Title
26663529 2016 Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ?1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
25339316 2014 Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.
24561201 2014 Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.
24559202 2014 Expedient total synthesis of small to medium-sized membrane proteins via Fmoc chemistry.
24193250 2013 KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23873931 2013 Src family protein tyrosine kinase regulates the basolateral K channel in the distal convoluted tubule (DCT) by phosphorylation of KCNJ10 protein.
23704328 2013 Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
22907060 2012 S-Glutathionylation underscores the modulation of the heteromeric Kir4.1-Kir5.1 channel in oxidative stress.
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