ZCCHC8 (zinc finger CCHC-type containing 8)

2014-11-01  

Identity

HGNC
ZCCHC8
LOCATION
12q24.31
LOCUSID
55596
ALIAS
PFBMFT5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55596
MIM: 616381
HGNC: 25265
Ensembl: ENSG00000033030

Variants:

dbSNP: 55596
ClinVar: 55596
TCGA: ENSG00000033030
COSMIC: ZCCHC8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000033030ENST00000536306Q6NZY4
ENSG00000033030ENST00000536663F5H6J5
ENSG00000033030ENST00000540586F5GYI9
ENSG00000033030ENST00000543897Q6NZY4
ENSG00000033030ENST00000544054F5GX80
ENSG00000033030ENST00000633063Q6NZY4

Expression (GTEx)

0
5
10
15
20
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
386065452024Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.1
386065452024Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.1
313587412019The MTR4 helicase recruits nuclear adaptors of the human RNA exosome using distinct arch-interacting motifs.25
314885792019ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.57
313587412019The MTR4 helicase recruits nuclear adaptors of the human RNA exosome using distinct arch-interacting motifs.25
314885792019ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.57
271215532016Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).14
279053982016Structure of the RBM7-ZCCHC8 core of the NEXT complex reveals connections to splicing factors.30
271215532016Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).14
279053982016Structure of the RBM7-ZCCHC8 core of the NEXT complex reveals connections to splicing factors.30
162630842005Zcchc8 is a glycogen synthase kinase-3 substrate that interacts with RNA-binding proteins.13
162630842005Zcchc8 is a glycogen synthase kinase-3 substrate that interacts with RNA-binding proteins.13

Citation

Dessen P

ZCCHC8 (zinc finger CCHC-type containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/55066/case-report-explorer/js/gene-fusions/?id=55066