RHCE (Rh blood group CcEe antigens)

2016-10-01  

Identity

HGNC
RHCE
LOCATION
1p36.11
LOCUSID
6006
ALIAS
CD240CE,RH,RH30A,RHC,RHCe(152N),RHE,RHIXB,RHNA,RHPI,Rh4,RhIVb(J),RhVI,RhVIII
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6006
MIM: 111700
HGNC: 10008
Ensembl: ENSG00000188672

Variants:

dbSNP: 6006
ClinVar: 6006
TCGA: ENSG00000188672
COSMIC: RHCE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188672ENST00000294413P18577
ENSG00000188672ENST00000294413A0A1L3H056
ENSG00000188672ENST00000340849Q5VSJ7
ENSG00000188672ENST00000346452E7EQ47
ENSG00000188672ENST00000349320F6XSS0
ENSG00000188672ENST00000349438Q5VSJ8
ENSG00000188672ENST00000413854E7EU00
ENSG00000188672ENST00000527747H0YCJ8
ENSG00000188672ENST00000533771E9PKB3

Expression (GTEx)

0
1
2
3
4
5
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

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
118616372002Identification of the erythrocyte Rh blood group glycoprotein as a mammalian ammonium transporter.41
128579612003A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes.37
165849062006Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
153736662004Review: the molecular basis of the Rh blood group phenotypes.10
191709832009The JAL antigen (RH48) is the result of a change in RHCE that encodes Arg114Trp.10
249606462015Variant RH alleles and Rh immunisation in patients with sickle cell disease.10
165638292006Transport characteristics of mammalian Rh and Rh glycoproteins expressed in heterologous systems.9
179002762008DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule.8

Citation

Dessen P

RHCE (Rh blood group CcEe antigens)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56117/rhce