ZCCHC8 Chromosome 12
Zinc finger CCHC-type containing 8
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What This Gene Does
This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, together with hMTR4 and the RNA-binding factor RBM7 which promotes the exosomal degradation of non-coding promoter-upstream transcripts, enhancer RNAs and 3'-extended products of histone- and small nuclear RNA transcription. This complex is also thought to recruit the exosome to degrade intronic RNAs via its interaction with both the exosome and the spliceosome. It contains both an N-terminal zinc-knuckle domain and a C-terminal proline-rich domain. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
"Zinc fingers CCHC-type|Nuclear exosome targeting complex"
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000033030
Associated Conditions (7)
ZCCHC8-related disorder
Inherited aplastic anemia
Pulmonary fibrosis and/or bone marrow failure
telomere-related
5
Dyskeratosis congenita
Inherited acute myeloid leukemia
Key Variants
RS181255243
Conflicting classifications of pathogenicity
ZCCHC8-related disorder, ZCCHC8-related disorder
Health Risk
RS372521431
Conflicting classifications of pathogenicity
Health Risk
RS748005137
Conflicting classifications of pathogenicity
Health Risk
RS762526701
Conflicting classifications of pathogenicity
Health Risk
RS771364943
Conflicting classifications of pathogenicity
Health Risk
RS868811989
Conflicting classifications of pathogenicity
Inherited aplastic anemia, Inherited aplastic anemia
Health Risk
RS1957578325
Likely pathogenic
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Health Risk
RS2547206698
Likely pathogenic
Inherited acute myeloid leukemia, Inherited acute myeloid leukemia
Health Risk
RS2547213859
Likely pathogenic
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS1317757765
Pathogenic
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS181255243 | Health Risk | Conflicting classifications of pathogenicity | ZCCHC8-related disorder, ZCCHC8-related disorder |
| RS372521431 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748005137 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762526701 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771364943 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS868811989 | Health Risk | Conflicting classifications of pathogenicity | Inherited aplastic anemia, Inherited aplastic anemia |
| RS1957578325 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 |
| RS2547206698 | Health Risk | Likely pathogenic | Inherited acute myeloid leukemia, Inherited acute myeloid leukemia |
| RS2547213859 | Health Risk | Likely pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS1317757765 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 |