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Aliases for CCDC174 Gene

Aliases for CCDC174 Gene

  • Coiled-Coil Domain Containing 174 2 3 5
  • C3orf19 3 4
  • Chromosome 3 Open Reading Frame 19 2
  • HSPC212 3
  • IHPMR 3
  • IHPM 3

External Ids for CCDC174 Gene

Previous HGNC Symbols for CCDC174 Gene

  • C3orf19

Summaries for CCDC174 Gene

Entrez Gene Summary for CCDC174 Gene

  • The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]

GeneCards Summary for CCDC174 Gene

CCDC174 (Coiled-Coil Domain Containing 174) is a Protein Coding gene. Diseases associated with CCDC174 include infantile hypotonia and hypotonia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC174 Gene

Genomics for CCDC174 Gene

Regulatory Elements for CCDC174 Gene

Promoters for CCDC174 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CCDC174 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC174 Gene

Chromosome:
3
Start:
14,651,746 bp from pter
End:
14,672,659 bp from pter
Size:
20,914 bases
Orientation:
Plus strand

Genomic View for CCDC174 Gene

Genes around CCDC174 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC174 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC174 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC174 Gene

Proteins for CCDC174 Gene

  • Protein details for CCDC174 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PII3-CC174_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 174
    Protein Accession:
    Q6PII3
    Secondary Accessions:
    • Q96CS5

    Protein attributes for CCDC174 Gene

    Size:
    467 amino acids
    Molecular mass:
    53958 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC174 Gene

Proteomics data for CCDC174 Gene at MOPED

Post-translational modifications for CCDC174 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC174 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC174 Gene

Domains & Families for CCDC174 Gene

Protein Domains for CCDC174 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC174: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CCDC174 Gene

Function for CCDC174 Gene

Phenotypes for CCDC174 Gene

genes like me logo Genes that share phenotypes with CCDC174: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC174 Gene

Localization for CCDC174 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC174 Gene COMPARTMENTS Subcellular localization image for CCDC174 gene
Compartment Confidence
nucleus 5
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC174 Gene

Pathways & Interactions for CCDC174 Gene

SuperPathways for CCDC174 Gene

No Data Available

Interacting Proteins for CCDC174 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000373304%0d%0a9606.ENSP00000269349%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q6PII3-CC174_HUMAN ENSP00000373304 for CCDC174 Gene via MINT I2D STRING

Gene Ontology (GO) - Biological Process for CCDC174 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC174 Gene

Drugs & Compounds for CCDC174 Gene

No Compound Related Data Available

Transcripts for CCDC174 Gene

Unigene Clusters for CCDC174 Gene

Coiled-coil domain containing 174:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC174 Gene

No ASD Table

Relevant External Links for CCDC174 Gene

GeneLoc Exon Structure for
CCDC174
ECgene alternative splicing isoforms for
CCDC174

Expression for CCDC174 Gene

mRNA expression in normal human tissues for CCDC174 Gene

Protein differential expression in normal tissues from HIPED for CCDC174 Gene

This gene is overexpressed in Spleen (36.8), Bone marrow mesenchymal stem cell (11.5), and Neutrophil (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC174 Gene



SOURCE GeneReport for Unigene cluster for CCDC174 Gene Hs.517820

genes like me logo Genes that share expression patterns with CCDC174: view

Primer Products

In Situ Assay 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 Protein tissue co-expression partners for CCDC174 Gene

Orthologs for CCDC174 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC174 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CCDC174 35
  • 87.44 (n)
  • 89.72 (a)
C22H3ORF19 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC174 35
  • 90.23 (n)
  • 91.03 (a)
CCDC174 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc174 35
  • 85.77 (n)
  • 84.98 (a)
Ccdc174 16
Ccdc174 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC174 35
  • 99.86 (n)
  • 100 (a)
CCDC174 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc174 35
  • 86.31 (n)
  • 86.24 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC174 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves C12H3ORF19 35
  • 69.98 (n)
  • 70.46 (a)
C12H3ORF19 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC174 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc174 35
  • 63.97 (n)
  • 65.17 (a)
Str.10062 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1949 35
zebrafish
(Danio rerio)
Actinopterygii ccdc174 35
  • 62.52 (n)
  • 58.37 (a)
Dr.16849 35
ccdc174 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7183 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for CCDC174:
  • 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)
  • 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 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 CCDC174 Gene

ENSEMBL:
Gene Tree for CCDC174 (if available)
TreeFam:
Gene Tree for CCDC174 (if available)

Paralogs for CCDC174 Gene

Pseudogenes.org Pseudogenes for CCDC174 Gene

genes like me logo Genes that share paralogs with CCDC174: view

No data available for Paralogs for CCDC174 Gene

Variants for CCDC174 Gene

Sequence variations from dbSNP and Humsavar for CCDC174 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs60239620 - 14,671,097(+) ACATA(C/T)GTCAC nc-transcript-variant, reference, missense
rs1901 -- 14,670,966(-) GACGG(C/T)GGGGC nc-transcript-variant, reference, synonymous-codon
rs951829 -- 14,670,591(-) TGTCC(G/T)TTATT intron-variant
rs3841943 -- 14,668,686(+) ATGCT(-/AT)GTCAG intron-variant
rs3773490 -- 14,668,428(+) CATAG(G/T)CTTGT intron-variant

Variation tolerance for CCDC174 Gene

Residual Variation Intolerance Score: 38.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.53; 55.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC174 Gene

HapMap Linkage Disequilibrium report
CCDC174
Human Gene Mutation Database (HGMD)
CCDC174

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CCDC174 Gene

Disorders for CCDC174 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC174 Gene - From: GeneCards

Disorder Aliases PubMed IDs
infantile hypotonia
hypotonia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC174

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC174
genes like me logo Genes that share disorders with CCDC174: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC174 Gene

Publications for CCDC174 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3
  3. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. (PMID: 26358778) Volodarsky M. … Birk O.S. (Hum. Mol. Genet. 2015) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. Towards a proteome-scale map of the human protein-protein interaction network. (PMID: 16189514) Rual J.F. … Vidal M. (Nature 2005) 3

Products for CCDC174 Gene

Sources for CCDC174 Gene

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