KEL (Kell metallo-endopeptidase (Kell blood group))

2014-01-01  

Identity

HGNC
KEL
LOCATION
7q34
LOCUSID
3792
ALIAS
CD238,ECE3,Kell
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3792
MIM: 613883
HGNC: 6308
Ensembl: ENSG00000197993

Variants:

dbSNP: 3792
ClinVar: 3792
TCGA: ENSG00000197993
COSMIC: KEL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197993ENST00000355265P23276
ENSG00000197993ENST00000355265A0A077QP03
ENSG00000197993ENST00000460479H0Y8A1
ENSG00000197993ENST00000467543E7ETW3
ENSG00000197993ENST00000476829E9PHG0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

References

Pubmed IDYearTitleCitations
386445562024Epigenetic dissection of human blood group genes reveals regulatory elements and detailed characteristics of KEL and four other loci.0
386445562024Epigenetic dissection of human blood group genes reveals regulatory elements and detailed characteristics of KEL and four other loci.0
351408392022Functional Evaluation of KEL as an Oncogenic Gene in the Progression of Acute Erythroleukemia.2
358520662022Novel KEL allele associated with loss of Kp(b) identified in a white blood donor.0
351408392022Functional Evaluation of KEL as an Oncogenic Gene in the Progression of Acute Erythroleukemia.2
358520662022Novel KEL allele associated with loss of Kp(b) identified in a white blood donor.0
332313052021Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.3
336750362021HLA-DRB1 molecules and the presentation of anchor peptides from RhD, RhCE, and KEL proteins.1
341370462021Novel KEL*02N allele in Saudi Arabia encoding a Kell null (K(0) ) phenotype.0
332313052021Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.3
336750362021HLA-DRB1 molecules and the presentation of anchor peptides from RhD, RhCE, and KEL proteins.1
341370462021Novel KEL*02N allele in Saudi Arabia encoding a Kell null (K(0) ) phenotype.0
325980502020Identification of a novel null allele of the KEL gene in a Korean patient with the Kell null phenotype.0
325980502020Identification of a novel null allele of the KEL gene in a Korean patient with the Kell null phenotype.0
304181292019Transfused platelets enhance alloimmune responses to transfused KEL-expressing red blood cells in a murine model.2

Citation

Dessen P

KEL (Kell metallo-endopeptidase (Kell blood group))

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53653/kel-(kell-metallo-endopeptidase-(kell-blood-group))