TDRKH (tudor and KH domain containing)

2014-11-01  

Identity

HGNC
TDRKH
LOCATION
1q21.3
LOCUSID
11022
ALIAS
TDRD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11022
MIM: 609501
HGNC: 11713
Ensembl: ENSG00000182134

Variants:

dbSNP: 11022
ClinVar: 11022
TCGA: ENSG00000182134
COSMIC: TDRKH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182134ENST00000368822Q9Y2W6
ENSG00000182134ENST00000368823Q5SZR4
ENSG00000182134ENST00000368824Q9Y2W6
ENSG00000182134ENST00000368825Q9Y2W6
ENSG00000182134ENST00000368827Q9Y2W6
ENSG00000182134ENST00000440583F6TB26
ENSG00000182134ENST00000458431Q9Y2W6
ENSG00000182134ENST00000525790B7ZAG4
ENSG00000182134ENST00000526378E9PKN8
ENSG00000182134ENST00000526413B7ZAG4
ENSG00000182134ENST00000530202E9PQX4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Gene ExpressionREACTOMER-HSA-74160
Gene Silencing by RNAREACTOMER-HSA-211000
PIWI-interacting RNA (piRNA) biogenesisREACTOMER-HSA-5601884

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
305038562019TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.0
305038562019TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.0
291181432017Structural basis for arginine methylation-independent recognition of PIWIL1 by TDRD2.15
291181432017Structural basis for arginine methylation-independent recognition of PIWIL1 by TDRD2.15
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
159558132005Tudor domains bind symmetrical dimethylated arginines.111
159558132005Tudor domains bind symmetrical dimethylated arginines.111

Citation

Dessen P

TDRKH (tudor and KH domain containing)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74605/tdrkh-(tudor-and-kh-domain-containing)