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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... See more...
Aliases for ZCCHC8 Gene
Aliases for ZCCHC8 Gene
External Ids for ZCCHC8 Gene
- HGNC: 25265
- NCBI Entrez Gene: 55596
- Ensembl: ENSG00000033030
- OMIM®: 616381
- UniProtKB/Swiss-Prot: Q6NZY4
Previous GeneCards Identifiers for ZCCHC8 Gene
- GC12M121395
- GC12M121482
- GC12M122958
- GC12M119918
Summaries for ZCCHC8 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 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]
GeneCards Summary for ZCCHC8 Gene
ZCCHC8 (Zinc Finger CCHC-Type Containing 8) is a Protein Coding gene. Diseases associated with ZCCHC8 include Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5 and Pulmonary Fibrosis.
UniProtKB/Swiss-Prot Summary for ZCCHC8 Gene
-
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).
Additional gene information for ZCCHC8 Gene
- HGNC (25265)
- NCBI Entrez Gene (55596)
- Ensembl (ENSG00000033030)
- OMIM® (616381)
- UniProtKB/Swiss-Prot (Q6NZY4)
- Open Targets Platform(ENSG00000033030)
- Monarch Initiative
- Search for ZCCHC8 at DataMed
- Search for ZCCHC8 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZCCHC8 Gene
Genomics for ZCCHC8 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ZCCHC8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ZCCHC8 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZCCHC8
- Top Transcription factor binding sites by QIAGEN in the ZCCHC8 gene promoter:
-
- E4BP4
- Egr-2
- Evi-1
- HEN1
- Lmo2
- PPAR-gamma1
- PPAR-gamma2
- RSRFC4
Genomic Locations for ZCCHC8 Gene
Latest Assembly
- chr12:122,471,599-122,501,184
- (GRCh38/hg38)
- Size:
- 29,586 bases
- Orientation:
- Minus strand
Previous Assembly
- chr12:122,956,147-122,985,479
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 29,333 bases
- Orientation:
- Minus strand
- chr12:122,957,417-122,985,518
- (GRCh37/hg19 by Ensembl)
- Size:
- 28,102 bases
- Orientation:
- Minus strand
Genomic View for ZCCHC8 Gene
Genes around ZCCHC8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
ZCCHC8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ZCCHC8 Gene
Proteins for ZCCHC8 Gene
-
Protein details for ZCCHC8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6NZY4-ZCHC8_HUMAN
- Recommended name:
- Zinc finger CCHC domain-containing protein 8
- Protein Accession:
- Q6NZY4
- Q7L2P6
- Q8N2K5
- Q96SK7
- Q9NSS2
- Q9NSS3
Protein attributes for ZCCHC8 Gene
- Size:
- 707 amino acids
- Molecular mass:
- 78577 Da
- Quaternary structure:
-
- Component of a nuclear TRAMP-like complex, an ATP-dependent exosome regulatory complex consisting of a helicase (MTREX), an oligadenylate polymerase (TENT4B or TENT4A), and a substrate specific RNA-binding factor (ZCCHC7 or ZCCHC8). Several TRAMP-like complexes exist with specific compositions and are associated with nuclear, or nucleolar RNA exosomes. Identified in the spliceosome C complex. Component of the nuclear exosome targeting (NEXT) complex composed of MTREX, ZCCHC8, and RBM7 that directs a subset of non-coding short-lived RNAs for exosomal degradation (PubMed:27905398, PubMed:27871484). Interacts with proteins involved in RNA processing and degradation such as MTREX and RBM7; interaction with MTREX enhances MTREX RNA helicase activity and bridges between RBM7 and MTREX (PubMed:16263084, PubMed:27905398, PubMed:27871484). Interacts with TERC, the telomerase RNA component (PubMed:31488579).
Protein Expression for ZCCHC8 Gene
Post-translational modifications for ZCCHC8 Gene
- Phosphorylation at Thr-492 by GSK3 is triggered in cells entering mitosis; this phosphorylation is greatly enhanced by nocodazole treatment, but reduced by lithium.
-
Ubiquitination at Lys363
- NX_Q6NZY4 (NX_Q6NZY4-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ZCCHC8 Gene
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for ZCCHC8
- Novus Biologicals Antibodies for ZCCHC8
-
Abcam antibodies for ZCCHC8
- Invitrogen Antibodies for ZCCHC8 (AFLGC-Zcchc8)
-
Boster Bio Antibodies for ZCCHC8
-
Custom Antibody ServicesProSci Antibodies for ZCCHC8
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for ZCCHC8
- Origene Custom Protein Services for ZCCHC8
- antibodies-online: Show 3 available ZCCHC8 Proteins ranked by validation data
- Compare Top ZCCHC8 Proteins
-
Quality Products:
-
Abcam proteins for ZCCHC8
Assay products for research
No data available for DME Specific Peptides for ZCCHC8 Gene
Domains & Families for ZCCHC8 Gene
Gene Families for ZCCHC8 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ZCCHC8 Gene
- InterPro:
- Blocks:
-
- C2HC-type zinc-finger signature
- PSP, proline-rich
- ProtoNet:
Suggested Antigen Peptide Sequences for ZCCHC8 Gene
- GenScript: Design optimal peptide antigens:
-
- Zinc finger CCHC domain-containing protein 8 (ZCHC8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6NZY4UniProtKB/Swiss-Prot:
ZCHC8_HUMAN :- The C-terminal part (659-707) contributes to MTREX RNA helicase activity, in part, by enhancing its RNA-dependent ATPase activity.
- Belongs to the ZCCHC8 family.
- Domain:
-
- The C-terminal part (659-707) contributes to MTREX RNA helicase activity, in part, by enhancing its RNA-dependent ATPase activity.
- Family:
-
- Belongs to the ZCCHC8 family.
Function for ZCCHC8 Gene
Molecular function for ZCCHC8 Gene
- UniProtKB/Swiss-Prot 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 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).
- UniProtKB/Swiss-Prot Induction:
- Slight accumulation in cells entering S phase of the cell cycle.
Phenotypes From GWAS Catalog for ZCCHC8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | IBA,IDA | 31488579 |
| GO:0005515 | protein binding | IPI | 16263084 |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ZCCHC8 Gene
- GenomeRNAi human phenotypes for ZCCHC8:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ZCCHC8 - Starting at $85 >
- * ZCCHC8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ZCCHC8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ZCCHC8
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZCCHC8
miRNA for ZCCHC8 Gene
- miRTarBase miRNAs that target ZCCHC8
-
- hsa-miR-26b-5p (MIRT028967)
- hsa-miR-6513-5p (MIRT519933)
- hsa-miR-887-5p (MIRT519934)
- hsa-miR-3913-5p (MIRT519935)
- hsa-miR-3122 (MIRT519936)
- hsa-miR-450a-1-3p (MIRT519937)
- hsa-miR-1228-5p (MIRT519938)
- hsa-miR-6780a-5p (MIRT519939)
- hsa-miR-6779-5p (MIRT519940)
- hsa-miR-3689c (MIRT519941)
- hsa-miR-3689b-3p (MIRT519942)
- hsa-miR-3689a-3p (MIRT519943)
- hsa-miR-30b-3p (MIRT519944)
- hsa-miR-1273h-5p (MIRT519945)
- hsa-miR-6788-5p (MIRT519946)
- hsa-miR-30c-2-3p (MIRT519947)
- hsa-miR-30c-1-3p (MIRT519948)
- hsa-miR-6799-5p (MIRT519949)
- hsa-miR-6883-5p (MIRT519950)
- hsa-miR-6785-5p (MIRT519951)
- hsa-miR-4728-5p (MIRT519952)
- hsa-miR-149-3p (MIRT519953)
- hsa-miR-7106-5p (MIRT519954)
- hsa-miR-5787 (MIRT519955)
- hsa-miR-4505 (MIRT519956)
- hsa-miR-6884-5p (MIRT519957)
- hsa-miR-485-5p (MIRT519958)
- hsa-miR-4486 (MIRT519959)
- hsa-miR-7112-5p (MIRT519960)
- hsa-miR-383-3p (MIRT519961)
- hsa-miR-1288-5p (MIRT519962)
- hsa-miR-6765-3p (MIRT519963)
- hsa-miR-3622b-3p (MIRT519964)
- hsa-miR-3622a-3p (MIRT519965)
- mmu-miR-1949 (MIRT579856)
- mmu-miR-875-5p (MIRT579857)
- hsa-miR-378a-5p (MIRT625148)
- hsa-miR-6749-3p (MIRT625149)
- hsa-miR-6792-3p (MIRT625150)
- hsa-miR-4691-5p (MIRT625151)
- hsa-miR-6821-3p (MIRT625152)
- hsa-miR-6790-3p (MIRT625153)
- hsa-miR-3653-5p (MIRT625154)
- hsa-miR-3189-3p (MIRT625155)
- hsa-miR-212-5p (MIRT625156)
- hsa-miR-3667-3p (MIRT625157)
- hsa-miR-6734-3p (MIRT625158)
- hsa-miR-660-3p (MIRT625159)
- hsa-miR-5193 (MIRT625160)
- hsa-miR-3934-5p (MIRT625161)
- hsa-miR-764 (MIRT625162)
- hsa-miR-125a-3p (MIRT625163)
- hsa-miR-6878-3p (MIRT636101)
- hsa-miR-6744-3p (MIRT636102)
- hsa-miR-4757-5p (MIRT636103)
- hsa-miR-6778-3p (MIRT636104)
- hsa-miR-4701-5p (MIRT697444)
- hsa-miR-664a-5p (MIRT697445)
- hsa-miR-4794 (MIRT697446)
- hsa-miR-4735-5p (MIRT697447)
- hsa-miR-1228-3p (MIRT697448)
- hsa-miR-6848-3p (MIRT720609)
- hsa-miR-6843-3p (MIRT720610)
- hsa-miR-6131 (MIRT720611)
- hsa-miR-3663-5p (MIRT720612)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ZCCHC8
- Browse OriGene Inhibitory RNA Products For ZCCHC8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZCCHC8
Clone products for research
- Applied Biological Materials (abm): Clones for ZCCHC8 - Starting at $45 >
- * ZCCHC8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ZCCHC8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZCCHC8
Cell Lines for research
-
Horizon Cell Lines for ZCCHC8
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZCCHC8 Gene
Localization for ZCCHC8 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ZCCHC8 Gene
- Nucleus, nucleoplasm. Nucleus. Note=Excluded from nucleolus. {ECO:0000269 PubMed:21855801}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| cytosol | 2 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 21855801 |
| GO:0005654 | nucleoplasm | IDA | 16263084 |
| GO:0005681 | spliceosomal complex | IEA | -- |
| GO:0005730 | NOT nucleolus | IDA | 21855801 |
| GO:0016604 | nuclear body | IDA | -- |
Pathways & Interactions for ZCCHC8 Gene
Interacting Proteins for ZCCHC8 Gene
Selected Interacting proteins:
Q6NZY4-ZCHC8_HUMAN
ENSP00000438993
for ZCCHC8 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ZCCHC8
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000398 | mRNA splicing, via spliceosome | IC | 11991638 |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0008380 | RNA splicing | IEA | -- |
| GO:0016076 | snRNA catabolic process | ISS | -- |
| GO:0034470 | ncRNA processing | IMP | 31488579 |
No data available for Pathways by source and SIGNOR curated interactions for ZCCHC8 Gene
Transcripts for ZCCHC8 Gene
mRNA/cDNA for ZCCHC8 Gene
- 5 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000536306 2904 nts (view in UCSC)
- ENST00000536663 1252 nts (view in UCSC)
- ENST00000538116 1829 nts (view in UCSC)
- ENST00000538493 1142 nts (view in UCSC)
- ENST00000540586 1250 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ZCCHC8 - Starting at $85 >
- * ZCCHC8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ZCCHC8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ZCCHC8
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZCCHC8
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ZCCHC8
- Browse OriGene Inhibitory RNA Products For ZCCHC8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZCCHC8
Clone products for research
- Applied Biological Materials (abm): Clones for ZCCHC8 - Starting at $45 >
- * ZCCHC8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ZCCHC8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZCCHC8
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 16a | · | 16b |
|---|---|---|---|
| SP1: | |||
| SP2: | |||
| SP3: | |||
| SP4: | |||
| SP5: | |||
| SP6: | |||
| SP7: | |||
| SP8: | |||
| SP9: |
Relevant External Links for ZCCHC8 Gene
- GeneLoc Exon Structure for
- ZCCHC8
Expression for ZCCHC8 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (11.8) and Lymph node (8.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZCCHC8 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZCCHC8
SOURCE GeneReport for Unigene cluster for ZCCHC8 Gene:
Hs.37706Evidence on tissue expression from TISSUES for ZCCHC8 Gene
- Nervous system(4.5)
- Intestine(4.3)
- Liver(4.2)
- Skin(2.3)
- Thyroid gland(2.1)
Primer products for research
-
OriGene qPCR primer pairs for ZCCHC8
-
OriGene qPCR primer pairs and template standards for ZCCHC8
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZCCHC8 Gene
Orthologs for ZCCHC8 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ZCCHC8 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ZCCHC8 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ZCCHC8 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Zcchc8 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ZCCHC8 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ZCCHC8 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ZCCHC8 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ZCCHC8 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | zcchc8 30 |
|
||
| Str.16750 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2647 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | zcchc8 30 31 |
|
OneToOne | |
| Dr.17330 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4622 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y34D9A.7 31 |
|
OneToMany | |
| ZK632.11 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for ZCCHC8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ZCCHC8 Gene
- ENSEMBL:
- Gene Tree for ZCCHC8 (if available)
- TreeFam:
- Gene Tree for ZCCHC8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ZCCHC8: view image
Paralogs for ZCCHC8 Gene
No data available for Paralogs for ZCCHC8 Gene
Variants for ZCCHC8 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZCCHC8 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs111823200 | Likely Benign: not provided | 122,474,140(-) |
G/A NM_017612.5(ZCCHC8):c.1481C>T (p.Pro494Leu) |
MISSENSE | |
| rs116783031 | Benign: not provided | 122,477,836(-) |
C/T NM_017612.5(ZCCHC8):c.1345+5G>A |
INTRON | |
| rs1317757765 | Pathogenic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 122,483,508(-) |
G/A NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu) |
MISSENSE_VARIANT,INTRON | |
| rs139379402 | Benign: not provided | 122,473,634(-) |
T/C NM_017612.5(ZCCHC8):c.1987A>G (p.Met663Val) |
MISSENSE | |
| rs150057798 | Likely Benign: not provided | 122,473,979(-) |
G/A NM_017612.5(ZCCHC8):c.1642C>T (p.Pro548Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3630977 | CNV | gain | 21293372 |
| nsv1113530 | CNV | deletion | 24896259 |
| nsv1134272 | CNV | deletion | 24896259 |
Gene Damage Index Score:
2.50;
43.81% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ZCCHC8 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZCCHC8 Gene
Disorders for ZCCHC8 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 |
|
|
| pulmonary fibrosis |
|
|
Search ZCCHC8 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ZCHC8_HUMAN- Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 (PFBMFT5) [MIM:618674]: A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant. {ECO:0000269 PubMed:31488579}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Additional Disease Information for ZCCHC8
- Atlas
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No data available for Genatlas for ZCCHC8 Gene
Publications for ZCCHC8 Gene
- Zcchc8 is a glycogen synthase kinase-3 substrate that interacts with RNA-binding proteins. (PMID: 16263084) Gustafson MP … Clurman BE (Biochemical and biophysical research communications 2005) 2 3 4 23
- ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. (PMID: 31488579) Gable DL … Armanios M (Genes & development 2019) 3 4 74
- Interaction profiling identifies the human nuclear exosome targeting complex. (PMID: 21855801) Lubas M … Jensen TH (Molecular cell 2011) 2 3 4
- Structural basis for MTR4-ZCCHC8 interactions that stimulate the MTR4 helicase in the nuclear exosome-targeting complex. (PMID: 29844170) Puno MR … Lima CD (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 4
- Identification of a Nuclear Exosome Decay Pathway for Processed Transcripts. (PMID: 27871484) Meola N … Jensen TH (Molecular cell 2016) 3 4
ExternalLinks
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