ZCCHC8

Chr 12q24.31

zinc finger CCHC-type containing 8

Aliases:: DKFZp434E2220
MANE:: ENST00000633063.3

OMIM: 616381 ↗NCBI: 55596 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ZCCHC8 · Q6NZY4

v62025-08-01

Predicted Aligned Error matrix for ZCCHC8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.2/ 100

Low

707 residues

Confidence breakdown

Very high(≥ 90)11%
Confident(70–90)30%
Low(50–70)19%
Very low(< 50)41%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Pulmonary fibrosis familial
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial pulmonary fibrosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5
0.52
neurodegenerative disease
0.46
dyskeratosis congenita
0.35
inherited aplastic anemia
0.33
inherited acute myeloid leukemia
0.27
glomerulonephritis
0.24
gastric adenocarcinoma
0.21
bladder transitional cell carcinoma
0.19
melanoma
0.19
diffuse large B-cell lymphoma
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc finger CCHC domain-containing protein 8

Scaffolding subunit of the trimeric nuclear exosome targeting (NEXT) complex that is involved in the surveillance and turnover of aberrant transcripts and non-coding RNAs (PubMed:27871484). NEXT functions as an RNA exosome cofactor that directs a subset of non-coding short-lived RNAs for exosomal degradation. May be involved in pre-mRNA splicing (Probable). It is required for 3'-end maturation of telomerase RNA component (TERC), TERC 3'-end targeting to the nuclear RNA exosome, and for telomerase function (PubMed:31488579)