XK (X-linked Kx blood group)

2014-11-01  

Identity

HGNC
XK
LOCATION
Xp21.1
LOCUSID
7504
ALIAS
KX,NA,NAC,X1k,XKR1

Other Information

Locus ID:

NCBI: 7504
MIM: 314850
HGNC: 12811
Ensembl: ENSG00000047597

Variants:

dbSNP: 7504
ClinVar: 7504
TCGA: ENSG00000047597
COSMIC: XK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000047597ENST00000378616P51811

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
173791932007The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system.10
174691882007Phenotypic variability of a distinct deletion in McLeod syndrome.5
211459242011Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.4
214638732011Two McLeod patients with novel mutations in XK.2
246358912014A novel XK gene mutation in a Taiwanese family with McLeod syndrome.2
263084652015Kell and Kx blood group systems.2
248162352014No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene.1

Citation

Dessen P

XK (X-linked Kx blood group)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75781/xk