Gene Gene information from NCBI Gene database.
Entrez ID 55596
Gene name Zinc finger CCHC-type containing 8
Gene symbol ZCCHC8
Synonyms (NCBI Gene)
PFBMFT5
Chromosome 12
Chromosome location 12q24.31
Summary 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 pro
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1317757765 G>A Pathogenic Coding sequence variant, intron variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
584
miRTarBase ID miRNA Experiments Reference
MIRT028967 hsa-miR-26b-5p Microarray 19088304
MIRT625163 hsa-miR-125a-3p HITS-CLIP 19536157
MIRT625162 hsa-miR-764 HITS-CLIP 19536157
MIRT625161 hsa-miR-3934-5p HITS-CLIP 19536157
MIRT625160 hsa-miR-5193 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IDA 31488579
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616381 25265 ENSG00000033030
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NZY4
Protein name Zinc finger CCHC domain-containing protein 8 (TRAMP-like complex RNA-binding factor ZCCHC8)
Protein function 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
PDB 5LXR , 5LXY , 6C90 , 7S7B , 7S7C , 7Z4Y , 7Z4Z , 7Z52
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00098 zf-CCHC 227 244 Zinc knuckle Domain
PF04046 PSP 287 335 PSP Family
Sequence
MAAEVYFGDLELFEPFDHPEESIPKPVHTRFKDDDGDEEDENGVGDAELRERLRQCEETI
EQLRAENQELKRKLNILTRPSGILVNDTKLDGPILQILFMNNAISKQYHQEIEEFVSNLV
KRFEEQQKNDVEKTSFNLLPQPSSIVLEEDHKVEESCAIKNNKEAFSVVGSVLYFTNFCL
DKLGQPLLNENPQLSEGWEIPKYHQVFSHIVSLEGQEIQVKAKRPKPHCFNCGSEEHQMK
DCPM
PRNAARISEKRKEYMDACGEANNQNFQQRYHAEEVEERFGRFKPGVISEELQDALG
VTDKSLPPFIYRMRQLGYPPGWLKEAELENSGLAL
YDGKDGTDGETEVGEIQQNKSVTYD
LSKLVNYPGFNISTPRGIPDEWRIFGSIPMQACQQKDVFANYLTSNFQAPGVKSGNKRSS
SHSSPGSPKKQKNESNSAGSPADMELDSDMEVPHGSQSSESFQFQPPLPPDTPPLPRGTP
PPVFTPPLPKGTPPLTPSDSPQTRTASGAVDEDALTLEELEEQQRRIWAALEQAESVNSD
SDVPVDTPLTGNSVASSPCPNELDLPVPEGKTSEKQTLDEPEVPEIFTKKSEAGHASSPD
SEVTSLCQKEKAELAPVNTEGALLDNGSVVPNCDISNGGSQKLFPADTSPSTATKIHSPI
PDMSKFATGITPFEFENMAESTGMYLRIRSLLKNSPRNQQKNKKASE
Sequence length 707
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dyskeratosis congenita Likely pathogenic rs2547213859 RCV003991545
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited acute myeloid leukemia Likely pathogenic rs2547206698 RCV003991548
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited aplastic anemia Likely pathogenic rs1957578325 RCV003991547
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 Pathogenic rs1317757765 RCV000856725
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30095326
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 27790247
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident Stroke GWASCAT_DG 27790247
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease GWASCAT_DG 27790247
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes GWASCAT_DG 27790247
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus GWASCAT_DG 27790247
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glioblastoma Glioblastoma BEFREE 27121553
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 27121553
★☆☆☆☆
Found in Text Mining only
Heart failure Heart Failure GWASCAT_DG 27790247
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Pubtator 39256642 Associate
★☆☆☆☆
Found in Text Mining only