Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55596
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger CCHC-type containing 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZCCHC8
Synonyms (NCBI Gene) Gene synonyms aliases
PFBMFT5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PFBMFT5
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IBA 21873635
GO:0003723 Function RNA binding IDA 31488579
GO:0005515 Function Protein binding IPI 16263084, 17525332, 25525152, 25578728, 27871484, 27905398, 29844170, 31358741
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616381 25265 ENSG00000033030
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
27790247
Diabetes Diabetes rs80356611 27790247
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
27790247
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21937992
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 27790247 ClinVar
Heart failure Heart failure 27790247 ClinVar
Pulmonary Fibrosis pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 GenCC
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
Idiopathic Pulmonary Fibrosis Associate 39256642
Immunologic Deficiency Syndromes Inhibit 39256642
Neoplasms Associate 36761744
Neuroblastoma Associate 20444257
Pulmonary Disease Chronic Obstructive Associate 39256642
Urinary Bladder Neoplasms Associate 36761744