RHD (Rh blood group D antigen)

2016-05-01  

Identity

HGNC
RHD
LOCATION
1p36.11
LOCUSID
6007
ALIAS
CD240D,DIIIc,RH,RH30,RHCED,RHDVA(TT),RHDel,RHPII,RHXIII,Rh4,RhDCw,RhII,RhK562-II,RhPI

Other Information

Locus ID:

NCBI: 6007
MIM: 111680
HGNC: 10009
Ensembl: ENSG00000187010

Variants:

dbSNP: 6007
ClinVar: 6007
TCGA: ENSG00000187010
COSMIC: RHD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187010ENST00000328664Q02161
ENSG00000187010ENST00000328664A0A1B1R0Y1
ENSG00000187010ENST00000342055Q02161
ENSG00000187010ENST00000357542Q02161
ENSG00000187010ENST00000417538Q02161
ENSG00000187010ENST00000423810E7EVW1
ENSG00000187010ENST00000454452Q02161
ENSG00000187010ENST00000454452Q5XLT3
ENSG00000187010ENST00000568195H3BT10
ENSG00000187010ENST00000622561E7EVW1
ENSG00000187010ENST00000648012A0A3B3IU43

Expression (GTEx)

0
1
2
3
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
128579612003A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes.37
120700412002The DAU allele cluster of the RHD gene.22
124398252002RHD maternal-fetal genotype incompatibility increases schizophrenia susceptibility.18
124398252002RHD maternal-fetal genotype incompatibility increases schizophrenia susceptibility.18
152841212005Rh autoantigen presentation to helper T cells in chronic lymphocytic leukemia by malignant B cells.18
161812042005Partial D, weak D types, and novel RHD alleles among 33,864 multiethnic patients: implications for anti-D alloimmunization and prevention.18
211339322011Overcoming methodical limits of standard RHD genotyping by next-generation sequencing.14
191709952009Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria.13
206084772010The influence of RhD phenotype on toxoplasmosis- and age-associated changes in personality profile of blood donors.13
161812072005Novel weak D types 31 and 32: adsorption-elution-supported D antigen analysis and comparison to prevalent weak D types.12

Citation

Dessen P

RHD (Rh blood group D antigen)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55766/rhd