Aliases for ZC3H8 Gene

Aliases for ZC3H8 Gene

  • Zinc Finger CCCH-Type Containing 8 2 3 5
  • Zinc Finger CCCH Domain-Containing Protein 8 3 4
  • Zinc Finger CCCH-Type Domain Containing 8 2 3
  • ZC3HDC8 3 4
  • Fliz1 2 3
  • ZC3H8 5

External Ids for ZC3H8 Gene

Previous HGNC Symbols for ZC3H8 Gene

  • ZC3HDC8

Previous GeneCards Identifiers for ZC3H8 Gene

  • GC02M112690
  • GC02M112973
  • GC02M105489

Summaries for ZC3H8 Gene

GeneCards Summary for ZC3H8 Gene

ZC3H8 (Zinc Finger CCCH-Type Containing 8) is a Protein Coding gene. Diseases associated with ZC3H8 include Retinitis Pigmentosa 38 and Cardiomyopathy, Familial Restrictive, 3. Among its related pathways are Gene Expression and HIV Transcription Elongation. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is ZC3H6.

UniProtKB/Swiss-Prot Summary for ZC3H8 Gene

  • Acts as a transcriptional repressor of the GATA3 promoter. Sequence-specific DNA-binding factor that binds to the 5'-AGGTCTC-3' sequence within the negative cis-acting element intronic regulatory region (IRR) of the GATA3 gene (By similarity). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:23932780). Induces thymocyte apoptosis when overexpressed, which may indicate a role in regulation of thymocyte homeostasis.

Additional gene information for ZC3H8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZC3H8 Gene

Genomics for ZC3H8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZC3H8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J112253 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 335 2.4 SP1 GATAD2A IKZF1 ZNF692 POLR2A ZNF7 BACH1 TARDBP MTA2 ZNF143 ZC3H8 lnc-RGPD8-4 ANAPC1 piR-30853-038 FBLN7
GH02J112541 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 -287.8 -287825 3.7 HNRNPL GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 SIX5 LEF1 KDM1A POLR1B LOC105373562 ANAPC1 CHCHD5 ENSG00000231747 TMEM87B RGPD8 ENSG00000207383 ENSG00000243389 ZC3H8
GH02J113012 Enhancer 1.1 Ensembl ENCODE 11 -758.1 -758064 1.2 ZNF512 LEF1 IKZF1 JUND DDX20 PHF21A PKNOX1 ZNF24 MTA1 DPF2 ZC3H6 RGPD8 CKAP2L CBWD2 ZC3H8 ENSG00000144158 POLR1B RNU6-1180P IL1F10 IL36B
GH02J112259 Enhancer 0.9 ENCODE 0.7 -4.5 -4483 0.2 GATAD2A CTCF TEAD4 TFE3 IKZF1 NFKBIZ ZHX2 JUND LARP7 ZNF143 ZC3H8 SNODB829 ZC3H6
GH02J112271 Enhancer 0.9 ENCODE 0.4 -17.7 -17697 2 LEF1 IKZF1 JUND PKNOX1 MTA1 ZNF24 ZNF740 BRD9 DPF2 HDAC1 SNODB829 RGPD8 ZC3H6 lnc-ZC3H8-7 ZC3H8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZC3H8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZC3H8

Top Transcription factor binding sites by QIAGEN in the ZC3H8 gene promoter:
  • AREB6
  • GATA-1
  • GATA-2
  • GATA-3
  • RREB-1
  • Spz1

Genomic Locations for ZC3H8 Gene

Genomic Locations for ZC3H8 Gene
chr2:112,211,529-112,255,136
(GRCh38/hg38)
Size:
43,608 bases
Orientation:
Minus strand
chr2:112,969,102-113,012,713
(GRCh37/hg19)
Size:
43,612 bases
Orientation:
Minus strand

Genomic View for ZC3H8 Gene

Genes around ZC3H8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZC3H8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZC3H8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZC3H8 Gene

Proteins for ZC3H8 Gene

  • Protein details for ZC3H8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5P1-ZC3H8_HUMAN
    Recommended name:
    Zinc finger CCCH domain-containing protein 8
    Protein Accession:
    Q8N5P1
    Secondary Accessions:
    • Q9BZ75

    Protein attributes for ZC3H8 Gene

    Size:
    291 amino acids
    Molecular mass:
    33576 Da
    Quaternary structure:
    • Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts with ICE1 (via C-terminus domain).
    SequenceCaution:
    • Sequence=AAH32001.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ZC3H8 Gene

Post-translational modifications for ZC3H8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZC3H8 Gene

No data available for DME Specific Peptides for ZC3H8 Gene

Domains & Families for ZC3H8 Gene

Gene Families for ZC3H8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZC3H8 Gene

InterPro:
Blocks:
  • Zn-finger, C-x8-C-x5-C-x3-H type
ProtoNet:

Suggested Antigen Peptide Sequences for ZC3H8 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger CCCH domain-containing protein 8 (ZC3H8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N5P1

UniProtKB/Swiss-Prot:

ZC3H8_HUMAN :
  • The N-terminal region and all three C3H1-type zinc fingers are necessary to induce transcriptional repression.
Domain:
  • The N-terminal region and all three C3H1-type zinc fingers are necessary to induce transcriptional repression.
genes like me logo Genes that share domains with ZC3H8: view

Function for ZC3H8 Gene

Molecular function for ZC3H8 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional repressor of the GATA3 promoter. Sequence-specific DNA-binding factor that binds to the 5'-AGGTCTC-3' sequence within the negative cis-acting element intronic regulatory region (IRR) of the GATA3 gene (By similarity). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:23932780). Induces thymocyte apoptosis when overexpressed, which may indicate a role in regulation of thymocyte homeostasis.

Phenotypes From GWAS Catalog for ZC3H8 Gene

Gene Ontology (GO) - Molecular Function for ZC3H8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IEA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003700 DNA-binding transcription factor activity IBA,IMP 12153508
GO:0003723 RNA binding IEA,HDA 22658674
genes like me logo Genes that share ontologies with ZC3H8: view
genes like me logo Genes that share phenotypes with ZC3H8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZC3H8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZC3H8 Gene

Localization for ZC3H8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZC3H8 Gene

Nucleus. Note=Colocalizes with coilin in subnuclear cajal and histone locus bodies. Translocates in the LEC complex to cajal and histone locus bodies at snRNA genes in a ICE1-dependent manner. Associates to transcriptionally active chromatin at snRNA genes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZC3H8 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZC3H8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,ISS --
GO:0005654 nucleoplasm TAS --
GO:0008023 transcription elongation factor complex IDA 23932780
GO:0015030 Cajal body IDA 23932780
genes like me logo Genes that share ontologies with ZC3H8: view

Pathways & Interactions for ZC3H8 Gene

PathCards logo

SuperPathways for ZC3H8 Gene

genes like me logo Genes that share pathways with ZC3H8: view

Pathways by source for ZC3H8 Gene

2 Reactome pathways for ZC3H8 Gene

Gene Ontology (GO) - Biological Process for ZC3H8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006915 apoptotic process IEA --
GO:0033085 negative regulation of T cell differentiation in thymus IMP 12153508
GO:0042795 snRNA transcription by RNA polymerase II TAS --
GO:0042796 snRNA transcription by RNA polymerase III IMP 23932780
genes like me logo Genes that share ontologies with ZC3H8: view

No data available for SIGNOR curated interactions for ZC3H8 Gene

Drugs & Compounds for ZC3H8 Gene

No Compound Related Data Available

Transcripts for ZC3H8 Gene

mRNA/cDNA for ZC3H8 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZC3H8

Alternative Splicing Database (ASD) splice patterns (SP) for ZC3H8 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1:
SP2: - -
SP3: - - - -
SP4: - - -
SP5: - -

Relevant External Links for ZC3H8 Gene

GeneLoc Exon Structure for
ZC3H8

Expression for ZC3H8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZC3H8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZC3H8 Gene

This gene is overexpressed in Liver (65.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZC3H8 Gene



Protein tissue co-expression partners for ZC3H8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZC3H8

SOURCE GeneReport for Unigene cluster for ZC3H8 Gene:

Hs.418416

Evidence on tissue expression from TISSUES for ZC3H8 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with ZC3H8: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZC3H8 Gene

Orthologs for ZC3H8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZC3H8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZC3H8 30 31
  • 99.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZC3H8 30 31
  • 89.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZC3H8 30 31
  • 86.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zc3h8 30 17 31
  • 84.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zc3h8 30
  • 82.36 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ZC3H8 31
  • 25 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZC3H6 31
  • 11 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 12 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii ZC3H8 31
  • 10 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta su(s) 31
  • 4 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T26A8.4 31
  • 7 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4406 31
  • 2 (a)
OneToMany
Species where no ortholog for ZC3H8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ZC3H8 Gene

ENSEMBL:
Gene Tree for ZC3H8 (if available)
TreeFam:
Gene Tree for ZC3H8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZC3H8: view image

Paralogs for ZC3H8 Gene

Paralogs for ZC3H8 Gene

(2) SIMAP similar genes for ZC3H8 Gene using alignment to 1 proteins:

  • ZC3H8_HUMAN
genes like me logo Genes that share paralogs with ZC3H8: view

Variants for ZC3H8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZC3H8 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
780355 Benign: not provided 112,238,491(-) T/C MISSENSE_VARIANT
786486 Benign: not provided 112,236,575(-) C/T MISSENSE_VARIANT
rs35782954 - p.Cys240Trp

Additional dbSNP identifiers (rs#s) for ZC3H8 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZC3H8 Gene

Variant ID Type Subtype PubMed ID
dgv4047n100 CNV loss 25217958
esv3305434 CNV mobile element insertion 20981092
esv3374040 CNV insertion 20981092
esv3383143 CNV insertion 20981092
nsv1123369 CNV deletion 24896259
nsv1149522 OTHER inversion 26484159
nsv521956 CNV loss 19592680
nsv582703 CNV loss 21841781

Variation tolerance for ZC3H8 Gene

Residual Variation Intolerance Score: 63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZC3H8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZC3H8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZC3H8 Gene

Disorders for ZC3H8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZC3H8 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ZC3H8 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ZC3H8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZC3H8 Gene

Publications for ZC3H8 Gene

  1. Regulation of the oncogenic phenotype by the nuclear body protein ZC3H8. (PMID: 30041613) Schmidt JA … Knepper JE (BMC cancer 2018) 2 3
  2. The 7SK snRNP associates with the little elongation complex to promote snRNA gene expression. (PMID: 28254838) Egloff S … Kiss T (The EMBO journal 2017) 2 3
  3. The little elongation complex functions at initiation and elongation phases of snRNA gene transcription. (PMID: 23932780) Hu D … Shilatifard A (Molecular cell 2013) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Transcriptional regulation of GATA-3 by an intronic regulatory region and fetal liver zinc finger protein 1. (PMID: 12077251) Hwang ES … Ho IC (Journal of immunology (Baltimore, Md. : 1950) 2002) 3 4

Products for ZC3H8 Gene

Sources for ZC3H8 Gene