R3HDM2 (R3H domain containing 2)

2014-08-01  

Identity

HGNC
R3HDM2
LOCATION
12q13.3
LOCUSID
22864
ALIAS
CAG6,PR01365
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22864
HGNC: 29167
Ensembl: ENSG00000179912

Variants:

dbSNP: 22864
ClinVar: 22864
TCGA: ENSG00000179912
COSMIC: R3HDM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179912ENST00000347140Q9Y2K5
ENSG00000179912ENST00000358907Q9Y2K5
ENSG00000179912ENST00000402412B5MCU0
ENSG00000179912ENST00000403821B5MCG9
ENSG00000179912ENST00000429355H7C0E9
ENSG00000179912ENST00000441731Q9Y2K5
ENSG00000179912ENST00000448732C9J7N6
ENSG00000179912ENST00000547262H0YIX9
ENSG00000179912ENST00000634871A0A0U1RRA6

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

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
208848462010Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.162
208848462010Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.162

Citation

Dessen P

R3HDM2 (R3H domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54569/r3hdm2-(r3h-domain-containing-2)