Property Summary

NCBI Gene PubMed Count 31
PubMed Score 83211.20
PubTator Score 364.18

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
lung carcinoma 2844 1.46817610513395E-28
sonic hedgehog group medulloblastoma 1482 2.22283162276193E-9
pediatric high grade glioma 2712 2.86313357874533E-7
pilocytic astrocytoma 3086 3.71118968721208E-7
atypical teratoid / rhabdoid tumor 4369 7.64570173049627E-7
osteosarcoma 7933 3.41826009073095E-6
glioblastoma 5572 4.60163073339728E-6
primitive neuroectodermal tumor 3031 5.03787770830607E-5
lung cancer 4473 7.41941833638652E-5
pancreatic carcinoma 567 1.01843295525697E-4
pancreatic cancer 2300 1.01843295525698E-4
medulloblastoma, large-cell 6234 1.77278010484871E-4
interstitial cystitis 2299 2.23623433980315E-4
gastric cancer 436 3.89707874962812E-4
ulcerative colitis 2087 6.19247494198455E-4
hepatocellular carcinoma 550 6.47071884235851E-4
subependymal giant cell astrocytoma 2287 0.00114793976059595
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00124250812134288
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00131973565781869
astrocytic glioma 2241 0.00165826944583205
psoriasis 6685 0.00195601326569588
tuberculosis 1563 0.00364853946050647
ovarian cancer 8492 0.0039011277442817
oligodendroglioma 2849 0.00973959559845292
ependymoma 2514 0.014030974051501
spina bifida 1064 0.0169183603063709
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0221812417314675
urothelial carcinoma 318 0.0382639989642349
Pick disease 1893 0.0413694212096019
Endometriosis 535 0.0454379772364471
Disease Target Count Z-score Confidence
Hypertension 293 7.15 3.6
Kidney disease 397 6.305 3.2
Metabolic acidosis 49 6.251 3.1
Heart disease 279 6.031 3.0
cystic fibrosis 1670 5.838 2.9
Hypokalemia 40 5.664 2.8
Epilepsy 346 5.478 2.7
Diarrhea 155 5.414 2.7
diabetes mellitus 1663 5.409 2.7
Long QT syndrome 53 5.384 2.7
Cancer 2346 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
Disease Target Count
McLeod syndrome 1

Expression

  Differential Expression (30)

See source...

Synonym

Accession P51811 Q4TTN6 Q8IUK6 Q9UC77
Symbols KX
NA
NAC
X1k
XKR1

Gene

XK

  Ortholog (11)

Species Source
Chimp OMA EggNOG Inparanoid
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Opossum OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid

 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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