ZCCHC17 (zinc finger CCHC-type containing 17)

2014-08-01  

Identity

HGNC
ZCCHC17
LOCATION
1p35.2
LOCUSID
51538
ALIAS
HSPC251,PS1D,pNO40
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51538
HGNC: 30246
Ensembl: ENSG00000121766

Variants:

dbSNP: 51538
ClinVar: 51538
TCGA: ENSG00000121766
COSMIC: ZCCHC17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121766ENST00000344147Q9NP64
ENSG00000121766ENST00000373714Q9NP64
ENSG00000121766ENST00000546109Q9NP64
ENSG00000121766ENST00000615916A0A087WXF8
ENSG00000121766ENST00000616393A0A087WYV3
ENSG00000121766ENST00000616859A0A087WYF0
ENSG00000121766ENST00000618216A0A087WXU5
ENSG00000121766ENST00000627541A0A0D9SEW3

Expression (GTEx)

0
50
100
150
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
380501422024ZCCHC17 Modulates Neuronal RNA Splicing and Supports Cognitive Resilience in Alzheimer's Disease.1
386305752024ZCCHC17 knockdown phenocopies Alzheimer's disease-related loss of synaptic proteins and hyperexcitability.0
380501422024ZCCHC17 Modulates Neuronal RNA Splicing and Supports Cognitive Resilience in Alzheimer's Disease.1
386305752024ZCCHC17 knockdown phenocopies Alzheimer's disease-related loss of synaptic proteins and hyperexcitability.0
312170762019Ectopically expressed pNO40 suppresses ribosomal RNA synthesis by inhibiting UBF-dependent transcription activation.6
312170762019Ectopically expressed pNO40 suppresses ribosomal RNA synthesis by inhibiting UBF-dependent transcription activation.6
290289632018ZCCHC17 is a master regulator of synaptic gene expression in Alzheimer's disease.10
290289632018ZCCHC17 is a master regulator of synaptic gene expression in Alzheimer's disease.10
128932612003Molecular characterization of a novel nucleolar protein, pNO40.10
128932612003Molecular characterization of a novel nucleolar protein, pNO40.10

Citation

Dessen P

ZCCHC17 (zinc finger CCHC-type containing 17)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54794/gene-fusions-explorer/hgnc