Aliases for ZNF830 Gene

Aliases for ZNF830 Gene

  • Zinc Finger Protein 830 2 3 4 5
  • Coiled-Coil Domain-Containing Protein 16 3 4
  • Coiled-Coil Domain Containing 16 2 3
  • Orphan Maintenance Of Genome 1 2 3
  • CCDC16 3 4
  • OMCG1 2 3
  • Hypothetical Protein MGC20398 3
  • MGC20398 2
  • ZNF830 5

External Ids for ZNF830 Gene

Previous HGNC Symbols for ZNF830 Gene

  • CCDC16

Previous GeneCards Identifiers for ZNF830 Gene

  • GC17P030315
  • GC17P033288
  • GC17P029474

Summaries for ZNF830 Gene

GeneCards Summary for ZNF830 Gene

ZNF830 (Zinc Finger Protein 830) is a Protein Coding gene. Diseases associated with ZNF830 include Xeroderma Pigmentosum, Complementation Group A and Fanconi Anemia, Complementation Group F. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot Summary for ZNF830 Gene

  • May play a role in pre-mRNA splicing as component of the spliceosome (PubMed:25599396). Acts as an important regulator of the cell cycle that participates in the maintenance of genome integrity. During cell cycle progression in embryonic fibroblast, prevents replication fork collapse, double-strand break formation and cell cycle checkpoint activation. Controls mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During the embryo preimplantation, controls different aspects of M phase. During early oocyte growth, plays a role in oocyte survival by preventing chromosomal breaks formation, activation of TP63 and reduction of transcription (By similarity).

Additional gene information for ZNF830 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF830 Gene

Genomics for ZNF830 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF830 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 ZNF830 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF830

Top Transcription factor binding sites by QIAGEN in the ZNF830 gene promoter:
  • AML1a
  • CUTL1
  • Elk-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • LyF-1
  • p53
  • STAT3
  • XBP-1

Genomic Locations for ZNF830 Gene

Genomic Locations for ZNF830 Gene
chr17:34,961,540-34,963,777
(GRCh38/hg38)
Size:
2,238 bases
Orientation:
Plus strand
chr17:33,288,549-33,290,205
(GRCh37/hg19)
Size:
1,657 bases
Orientation:
Plus strand

Genomic View for ZNF830 Gene

Genes around ZNF830 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF830 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF830 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF830 Gene

Proteins for ZNF830 Gene

  • Protein details for ZNF830 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NB3-ZN830_HUMAN
    Recommended name:
    Zinc finger protein 830
    Protein Accession:
    Q96NB3
    Secondary Accessions:
    • Q96F60
    • Q96GZ5
    • Q9BU38

    Protein attributes for ZNF830 Gene

    Size:
    372 amino acids
    Molecular mass:
    41999 Da
    Quaternary structure:
    • Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE; this complex binds preferentially to RNA. Interacts with XAB2 (PubMed:17981804). Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex (PubMed:25599396). The IB complex does not contain PRPF19 (PubMed:25599396).

neXtProt entry for ZNF830 Gene

Post-translational modifications for ZNF830 Gene

  • Phosphorylated in response to DNA damage by the cell cycle checkpoint kinases ATR/ATM.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF830 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZNF830 Gene

Domains & Families for ZNF830 Gene

Gene Families for ZNF830 Gene

Protein Domains for ZNF830 Gene

Suggested Antigen Peptide Sequences for ZNF830 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 16 (ZN830_HUMAN)
genes like me logo Genes that share domains with ZNF830: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZNF830 Gene

Function for ZNF830 Gene

Molecular function for ZNF830 Gene

UniProtKB/Swiss-Prot Function:
May play a role in pre-mRNA splicing as component of the spliceosome (PubMed:25599396). Acts as an important regulator of the cell cycle that participates in the maintenance of genome integrity. During cell cycle progression in embryonic fibroblast, prevents replication fork collapse, double-strand break formation and cell cycle checkpoint activation. Controls mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During the embryo preimplantation, controls different aspects of M phase. During early oocyte growth, plays a role in oocyte survival by preventing chromosomal breaks formation, activation of TP63 and reduction of transcription (By similarity).

Phenotypes From GWAS Catalog for ZNF830 Gene

Gene Ontology (GO) - Molecular Function for ZNF830 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 22365833
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF830: view
genes like me logo Genes that share phenotypes with ZNF830: view

Animal Models for ZNF830 Gene

MGI Knock Outs for ZNF830:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF830

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZNF830 Gene

Localization for ZNF830 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF830 Gene

Nucleus. Chromosome. Nucleus speckle. Note=Excluded from nucleolus. {ECO:0000250 UniProtKB:Q8R1N0}.

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 ZNF830 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF830 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005694 chromosome IEA --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with ZNF830: view

Pathways & Interactions for ZNF830 Gene

genes like me logo Genes that share pathways with ZNF830: view

Gene Ontology (GO) - Biological Process for ZNF830 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IEA,IBA 21873635
GO:0001541 ovarian follicle development IEA,ISS --
GO:0001546 preantral ovarian follicle growth IEA,ISS --
GO:0001832 blastocyst growth IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with ZNF830: view

No data available for SIGNOR curated interactions for ZNF830 Gene

Drugs & Compounds for ZNF830 Gene

No Compound Related Data Available

Transcripts for ZNF830 Gene

mRNA/cDNA for ZNF830 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 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 ZNF830

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF830 Gene

No ASD Table

Relevant External Links for ZNF830 Gene

GeneLoc Exon Structure for
ZNF830

Expression for ZNF830 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF830 Gene

Protein differential expression in normal tissues from HIPED for ZNF830 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.7), NK cells (8.2), and Pancreas (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF830 Gene



Protein tissue co-expression partners for ZNF830 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF830

SOURCE GeneReport for Unigene cluster for ZNF830 Gene:

Hs.413678

Evidence on tissue expression from TISSUES for ZNF830 Gene

  • Liver(4.3)
  • Intestine(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with ZNF830: view

Primer Products

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 ZNF830 Gene

Orthologs for ZNF830 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNF830 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNF830 30 31
  • 99.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZNF830 30 31
  • 87.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNF830 30 31
  • 86.48 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zfp830 30 17 31
  • 83.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zfp830 30
  • 82.34 (n)
Oppossum
(Monodelphis domestica)
Mammalia ZNF830 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZNF830 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZNF830 30 31
  • 66.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZNF830 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia znf830 30
  • 57.69 (n)
Str.16211 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16517 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:77398 30
  • 57.87 (n)
Dr.25429 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.305 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG11839 30 31
  • 49.02 (n)
OneToOne
Species where no ortholog for ZNF830 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for ZNF830 Gene

ENSEMBL:
Gene Tree for ZNF830 (if available)
TreeFam:
Gene Tree for ZNF830 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF830: view image

Paralogs for ZNF830 Gene

No data available for Paralogs for ZNF830 Gene

Variants for ZNF830 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF830 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs3744355 - p.Ser154Thr
rs8073825 - p.Ile16Val
rs8078059 - p.Ser93Pro
rs8078217 - p.Phe135Leu
rs931196 - p.His99Gln

Additional dbSNP identifiers (rs#s) for ZNF830 Gene

Variation tolerance for ZNF830 Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.30; 88.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF830 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF830

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ZNF830 Gene

Disorders for ZNF830 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZNF830 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF830

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ZNF830: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF830 Gene

Publications for ZNF830 Gene

  1. The RNA helicase Aquarius exhibits structural adaptations mediating its recruitment to spliceosomes. (PMID: 25599396) De I … Pena V (Nature structural & molecular biology 2015) 3 4
  2. "Orphan" retrogenes in the human genome. (PMID: 23066043) Ciomborowska J … Makałowska I (Molecular biology and evolution 2013) 2 3
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ZNF830 Gene

Sources for ZNF830 Gene