CCDC51 (coiled-coil domain containing 51)

2014-11-01  

Identity

HGNC
CCDC51
LOCATION
3p21.31
LOCUSID
79714
ALIAS
MITOK

Other Information

Locus ID:

NCBI: 79714
MIM: 618585
HGNC: 25714
Ensembl: ENSG00000164051

Variants:

dbSNP: 79714
ClinVar: 79714
TCGA: ENSG00000164051
COSMIC: CCDC51

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164051ENST00000395694Q96ER9
ENSG00000164051ENST00000412398Q96ER9
ENSG00000164051ENST00000412398A0A024R2V4
ENSG00000164051ENST00000438370C9JPZ8
ENSG00000164051ENST00000442740Q96ER9
ENSG00000164051ENST00000442740A0A024R2V4
ENSG00000164051ENST00000446140C9JSW8
ENSG00000164051ENST00000447018Q96ER9
ENSG00000164051ENST00000447018A0A024R2V4

Expression (GTEx)

0
5
10
15
20
25
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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

CCDC51 (coiled-coil domain containing 51)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61548/ccdc51-(coiled-coil-domain-containing-51)