Aliases for ZCCHC2 Gene

Aliases for ZCCHC2 Gene

  • Zinc Finger CCHC-Type Containing 2 2 3 5
  • Zinc Finger CCHC Domain-Containing Protein 2 3 4
  • C18orf49 3 4
  • Zinc Finger, CCHC Domain Containing 2 3
  • Chromosome 18 Open Reading Frame 49 2
  • KIAA1744 4

External Ids for ZCCHC2 Gene

Previous HGNC Symbols for ZCCHC2 Gene

  • C18orf49

Previous GeneCards Identifiers for ZCCHC2 Gene

  • GC18P059975
  • GC18P058339
  • GC18P058340
  • GC18P058342
  • GC18P058357
  • GC18P060190
  • GC18P056901

Summaries for ZCCHC2 Gene

GeneCards Summary for ZCCHC2 Gene

ZCCHC2 (Zinc Finger CCHC-Type Containing 2) is a Protein Coding gene. Diseases associated with ZCCHC2 include Nemaline Myopathy 5. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and phosphatidylinositol binding. An important paralog of this gene is ZCCHC14.

Gene Wiki entry for ZCCHC2 Gene

Additional gene information for ZCCHC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZCCHC2 Gene

Genomics for ZCCHC2 Gene

GeneHancer (GH) Regulatory Elements for ZCCHC2 Gene

Promoters and enhancers for ZCCHC2 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 ZCCHC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZCCHC2

Top Transcription factor binding sites by QIAGEN in the ZCCHC2 gene promoter:
  • aMEF-2
  • ARP-1
  • E2F
  • E2F-1
  • E47
  • MEF-2A
  • Oct-B1
  • p300
  • Pax-4a
  • Pax-5

Genomic Locations for ZCCHC2 Gene

Genomic Locations for ZCCHC2 Gene
chr18:62,523,025-62,587,709
(GRCh38/hg38)
Size:
64,685 bases
Orientation:
Plus strand
chr18:60,190,240-60,254,942
(GRCh37/hg19)
Size:
64,703 bases
Orientation:
Plus strand

Genomic View for ZCCHC2 Gene

Genes around ZCCHC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZCCHC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZCCHC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZCCHC2 Gene

Proteins for ZCCHC2 Gene

  • Protein details for ZCCHC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0B9-ZCHC2_HUMAN
    Recommended name:
    Zinc finger CCHC domain-containing protein 2
    Protein Accession:
    Q9C0B9
    Secondary Accessions:
    • B2RPG6
    • Q8N3S1
    • Q9NXF6

    Protein attributes for ZCCHC2 Gene

    Size:
    1178 amino acids
    Molecular mass:
    125936 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91057.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ZCCHC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZCCHC2 Gene

Post-translational modifications for ZCCHC2 Gene

  • Ubiquitination at Lys203
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZCCHC2 Gene

Domains & Families for ZCCHC2 Gene

Gene Families for ZCCHC2 Gene

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

Protein Domains for ZCCHC2 Gene

Blocks:
  • C2HC-type zinc-finger signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZCCHC2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger, CCHC domain containing 2 (B2RPG6_HUMAN)
  • Zinc finger, CCHC domain containing 2, isoform CRA_c (Q9BRD4_HUMAN)
  • Zinc finger CCHC domain-containing protein 2 (ZCHC2_HUMAN)
genes like me logo Genes that share domains with ZCCHC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZCCHC2 Gene

Function for ZCCHC2 Gene

Phenotypes From GWAS Catalog for ZCCHC2 Gene

Gene Ontology (GO) - Molecular Function for ZCCHC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0008270 zinc ion binding IEA --
GO:0035091 phosphatidylinositol binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZCCHC2: view
genes like me logo Genes that share phenotypes with ZCCHC2: view

Animal Model Products

CRISPR Products

miRNA for ZCCHC2 Gene

miRTarBase miRNAs that target ZCCHC2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZCCHC2 Gene

Localization for ZCCHC2 Gene

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 ZCCHC2 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZCCHC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with ZCCHC2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ZCCHC2 Gene

Pathways & Interactions for ZCCHC2 Gene

PathCards logo

SuperPathways for ZCCHC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZCCHC2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ZCCHC2 Gene

Drugs & Compounds for ZCCHC2 Gene

No Compound Related Data Available

Transcripts for ZCCHC2 Gene

mRNA/cDNA for ZCCHC2 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZCCHC2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16
SP1: - - - -
SP2: -
SP3:
SP4: - - - -
SP5: - -
SP6:

Relevant External Links for ZCCHC2 Gene

GeneLoc Exon Structure for
ZCCHC2

Expression for ZCCHC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZCCHC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZCCHC2 Gene

This gene is overexpressed in Urine (40.1), Bone (14.5), and Lung (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZCCHC2 Gene



Protein tissue co-expression partners for ZCCHC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZCCHC2

SOURCE GeneReport for Unigene cluster for ZCCHC2 Gene:

Hs.114191

Evidence on tissue expression from TISSUES for ZCCHC2 Gene

  • Muscle(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ZCCHC2: 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 ZCCHC2 Gene

Orthologs for ZCCHC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZCCHC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZCCHC2 31 30
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZCCHC2 31 30
  • 89.38 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zcchc2 17 31 30
  • 88.28 (n)
rat
(Rattus norvegicus)
Mammalia Zcchc2 30
  • 87.83 (n)
cow
(Bos Taurus)
Mammalia ZCCHC2 30
  • 83.2 (n)
oppossum
(Monodelphis domestica)
Mammalia ZCCHC2 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZCCHC2 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZCCHC2 31 30
  • 77.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZCCHC2 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zcchc2 30
  • 63.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30746 30
zebrafish
(Danio rerio)
Actinopterygii si:ch211-273d2.3 30
  • 53.26 (n)
ZCCHC2 31
  • 34 (a)
OneToOne
Species where no ortholog for ZCCHC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 ZCCHC2 Gene

ENSEMBL:
Gene Tree for ZCCHC2 (if available)
TreeFam:
Gene Tree for ZCCHC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZCCHC2: view image

Paralogs for ZCCHC2 Gene

Paralogs for ZCCHC2 Gene

Pseudogenes.org Pseudogenes for ZCCHC2 Gene

genes like me logo Genes that share paralogs with ZCCHC2: view

Variants for ZCCHC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZCCHC2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs35643152 - p.Thr941Ala

Additional dbSNP identifiers (rs#s) for ZCCHC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZCCHC2 Gene

Variant ID Type Subtype PubMed ID
dgv5966n54 CNV loss 21841781
dgv5967n54 CNV loss 21841781
dgv5968n54 CNV loss 21841781
esv26655 CNV loss 19812545
esv3445976 CNV duplication 20981092
nsv1126487 CNV deletion 24896259
nsv2333 CNV deletion 18451855
nsv577087 CNV gain+loss 21841781
nsv577089 CNV loss 21841781
nsv828259 CNV gain 20364138

Variation tolerance for ZCCHC2 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZCCHC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZCCHC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZCCHC2 Gene

Disorders for ZCCHC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZCCHC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
nemaline myopathy 5
  • nem5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZCCHC2

genes like me logo Genes that share disorders with ZCCHC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZCCHC2 Gene

Publications for ZCCHC2 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  4. The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell proliferation and targets the transcription factor Hbp1 for degradation. (PMID: 29911972) Lampert F … Peter M (eLife 2018) 3 54
  5. Discovery and fine mapping of serum protein loci through transethnic meta-analysis. (PMID: 23022100) Franceschini N … Morris AP (American journal of human genetics 2012) 3 54

Products for ZCCHC2 Gene

Sources for ZCCHC2 Gene