Property Summary

NCBI Gene PubMed Count 31
Grant Count 8
Funding $945,279.67
PubMed Score 83211.20
PubTator Score 364.18

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (95)

Disease Z-score Confidence
Hypertension 287 7.15 3.6
Kidney disease 396 6.305 3.2
Metabolic acidosis 49 6.251 3.1
Heart disease 279 6.031 3.0
cystic fibrosis 1,665 5.838 2.9
Hypokalemia 40 5.664 2.8
Epilepsy 346 5.478 2.7
Diarrhea 155 5.414 2.7
diabetes mellitus 1,663 5.409 2.7
Long QT syndrome 52 5.384 2.7
Cancer 2,346 5.135 2.6
Cerebrovascular disease 231 4.874 2.4
Brain edema 26 4.829 2.4
Neuropathy 210 4.736 2.4
Toxic encephalopathy 131 4.687 2.3
Liver disease 219 4.606 2.3
Hyperkalemic periodic paralysis 10 4.586 2.3
Coronary artery disease 240 4.564 2.3
Inappropriate ADH syndrome 5 4.5 2.2
Hyperaldosteronism 27 4.497 2.2
Erythromelalgia 8 4.451 2.2
Respiratory failure 30 4.437 2.2
Primary cutaneous amyloidosis 26 4.391 2.2
Hyperglycemia 120 4.373 2.2
Hypothyroidism 89 4.371 2.2
Neurodegenerative disease 383 4.369 2.2
Cholestasis 93 4.368 2.2
Conn's syndrome 22 4.315 2.2
Hypokalemic periodic paralysis 13 4.252 2.1
Central pontine myelinolysis 5 4.206 2.1
Hypophosphatemia 31 4.206 2.1
Migraine 79 4.057 2.0
Eye disease 55 4.019 2.0
Hyperthyroidism 50 3.983 2.0
Polycystic kidney disease 54 3.888 1.9
Pain agnosia 99 3.871 1.9
Brain Ischemia 87 3.845 1.9
Cholera 33 3.819 1.9
Breast cyst 2 3.773 1.9
Anemia 252 3.77 1.9
Bone disease 6 3.76 1.9
Endolymphatic hydrops 3 3.753 1.9
Obesity 616 3.747 1.9
Tetanus 66 3.601 1.8
Myopathy 128 3.594 1.8
Hepatic encephalopathy 25 3.541 1.8
Hyperinsulinism 63 3.498 1.7
Inflammatory bowel disease 142 3.478 1.7
Malaria 140 3.431 1.7
Breast disease 8 3.374 1.7
Hypoglycemia 81 3.363 1.7
Lice infestation 16 3.225 1.6
Ureteral disease 23 3.166 1.6
Bipolar Disorder 266 3.161 1.6
Pancreatitis 97 3.139 1.6
Polyhydramnios 29 3.088 1.5
Malignant hyperthermia 25 3.075 1.5
Gastroenteritis 46 3.064 1.5
Blood group deletion syndrome 1
Chorea Acanthocytosis Syndrome 2
Endometriosis 535
Hematological Disease 8
Mental disorders 11
Movement Disorders 21
Neuromuscular Diseases 3
Peripheral Neuropathy 303
Pick disease 1,893
astrocytic glioma 2,241
atypical teratoid / rhabdoid tumor 4,369
ependymoma 2,514
gastric cancer 430
glioblastoma 5,572
hepatocellular carcinoma 532
interstitial cystitis 2,299
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
lung cancer 4,466
lung carcinoma 2,844
medulloblastoma, large-cell 6,234
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
pancreatic carcinoma 567
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
primitive neuroectodermal tumor 3,031
psoriasis 6,685
sonic hedgehog group medulloblastoma 1,482
spina bifida 1,064
subependymal giant cell astrocytoma 2,287
tuberculosis 1,557
ulcerative colitis 2,087
urothelial carcinoma 318

Expression

  Differential Expression (30)

See source...

 GO Function (1)

Gene RIF (7)

PMID Text
26308465 the expression of KX is critical to normal morphology, and null mutations are associated with the McLeod neuroacanthocytosis syndrome.
24816235 The XK gene was not linked to hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria.
24635891 study reports the clinical findings and a novel nonsense hemizygous mutation, c.154C>T (p.Gln52X) at exon 1 of XK gene in a Taiwanese family with McLeod syndrome
21463873 Novel XK protein mutations are reported in two patients who exhibit typical clinical characteristics of McLeod syndrome.
21145924 This study identified one non-synonymous and one intron variant in mood disorder and schizophrenia subjects, respectively, in XK.
17469188 Sequence analysis demonstrated a 5 bp deletion in exon 2 of the XK gene in McLeod syndrome.
17379193 In human cortex, the results show expression of XK in cortical neurons with an apparent cytoplasmic localization.

AA Sequence

MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFSLLPCALVQLTLLFVHRDLSRDRPLVL      1 - 70
LLHLLQLGPLFRCFEVFCIYFQSGNNEEPYVSITKKRQMPKNGLSEEIEKEVGQAEGKLITHRSAFSRAS     71 - 140
VIQAFLGSAPQLTLQLYISVMQQDVTVGRSLLMTISLLSIVYGALRCNILAIKIKYDEYEVKVKPLAYVC    141 - 210
IFLWRSFEIATRVVVLVLFTSVLKTWVVVIILINFFSFFLYPWILFWCSGSPFPENIEKALSRVGTTIVL    211 - 280
CFLTLLYTGINMFCWSAVQLKIDSPDLISKSHNWYQLLVYYMIRFIENAILLLLWYLFKTDIYMYVCAPL    281 - 350
LVLQLLIGYCTAILFMLVFYQFFHPCKKLFSSSVSEGFQRWLRCFCWACRQQKPCEPIGKEDLQSSRDRD    351 - 420
ETPSSSKTSPEPGQFLNAEDLCSA                                                  421 - 444
//

Text Mined References (29)

PMID Year Title
26308465 2015 Kell and Kx blood group systems.
24816235 2014 No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene.
24635891 2014 A novel XK gene mutation in a Taiwanese family with McLeod syndrome.
21463873 2011 Two McLeod patients with novel mutations in XK.
21145924 2011 Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.
17469188 2007 Phenotypic variability of a distinct deletion in McLeod syndrome.
17379193 2007 The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system.
17302777 2007 McLeod phenotype without the McLeod syndrome.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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