RHAG (Rh associated glycoprotein)

2014-11-01  

Identity

HGNC
RHAG
LOCATION
6p12.3
LOCUSID
6005
ALIAS
CD241,OHS,OHST,RH2,RH50A,RHNR,Rh50,Rh50GP,SLC42A1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6005
MIM: 180297
HGNC: 10006
Ensembl: ENSG00000112077

Variants:

dbSNP: 6005
ClinVar: 6005
TCGA: ENSG00000112077
COSMIC: RHAG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112077ENST00000229810A0A0A0MQS8
ENSG00000112077ENST00000371175Q02094
ENSG00000112077ENST00000618248A0A087WZZ4
ENSG00000112077ENST00000646272A0A2R8YEH1
ENSG00000112077ENST00000646939Q02094
ENSG00000112077ENST00000646963Q9UHG9

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

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Rhesus glycoproteins mediate ammonium transport.REACTOMER-HSA-444411
MetabolismREACTOMER-HSA-1430728
O2/CO2 exchange in erythrocytesREACTOMER-HSA-1480926
Erythrocytes take up carbon dioxide and release oxygenREACTOMER-HSA-1237044
Erythrocytes take up oxygen and release carbon dioxideREACTOMER-HSA-1247673

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
387112552024Rh(null) phenotype in an Indian patient due to a novel c.1138 + 2 t > a mutation in the RHAG gene.0
387112552024Rh(null) phenotype in an Indian patient due to a novel c.1138 + 2 t > a mutation in the RHAG gene.0
323782292020Extensive clinical, serologic and molecular studies lead to the first reported Rh(mod) phenotype in Argentina.0
327056752020The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise to haemolytic disease of the newborn.2
323782292020Extensive clinical, serologic and molecular studies lead to the first reported Rh(mod) phenotype in Argentina.0
327056752020The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise to haemolytic disease of the newborn.2
295085042019A RHAG point mutation selectively disrupts Rh antigen expression.1
309909012019Rh(null) phenotype caused by a novel RHAG mutation, c.945+1G>A, in the Japanese population.0
310325412019A novel double-variant RHAG allele leads to Rh(mod) phenotype.0
295085042019A RHAG point mutation selectively disrupts Rh antigen expression.1
309909012019Rh(null) phenotype caused by a novel RHAG mutation, c.945+1G>A, in the Japanese population.0
310325412019A novel double-variant RHAG allele leads to Rh(mod) phenotype.0
292662892018A novel nucleotide deletion in RHAG allele identified in a Chinese Rh(null) individual.0
295595192018Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation.0
292662892018A novel nucleotide deletion in RHAG allele identified in a Chinese Rh(null) individual.0

Citation

Dessen P

RHAG (Rh associated glycoprotein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72622