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Aliases for CCDC174 Gene

Aliases for CCDC174 Gene

  • Coiled-Coil Domain Containing 174 2 3 5
  • C3orf19 3 4
  • Coiled-Coil Domain-Containing Protein 174 3
  • 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 Hypotonia, Infantile, With Psychomotor Retardation and Infantile Hypotonia.

UniProtKB/Swiss-Prot for CCDC174 Gene

  • Probably involved in neuronal development.

Additional gene information for CCDC174 Gene

No data available for CIViC summary , 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

Enhancers for CCDC174 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H014408 1.9 FANTOM5 Ensembl ENCODE dbSUPER 41.1 -238.9 -238936 8.4 HDGF PKNOX1 ATF1 ARNT SIN3A ZNF766 GATA2 ELK1 FOS ATF7 CCDC174 XPC CAPN7 SH3BP5-AS1 NR2C2 ENSG00000228242 SLC6A6 GC03P014418
GH03H015097 1.2 ENCODE 49.4 +447.1 447089 2.4 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 NR2C2 CCDC174 CAPN7 SH3BP5-AS1 XPC ENSG00000228242 TMEM43 MRPS25 HACL1 FGD5
GH03H014438 1.9 FANTOM5 Ensembl ENCODE dbSUPER 30.9 -211.3 -211298 3.9 PKNOX1 ATF1 ARNT ZNF493 FEZF1 ZNF2 TCF12 ZNF121 GLIS2 FOS XPC CCDC174 CAPN7 SLC6A6 NR2C2 ENSG00000230172 ENSG00000223398 HDAC11-AS1 SH3BP5-AS1 TMEM43
GH03H014122 1.8 FANTOM5 ENCODE dbSUPER 31.2 -526.5 -526510 5.4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CCDC174 XPC NR2C2 CHCHD4 ENSG00000228242 VN1R20P TMEM43 TPRXL ENSG00000268279
GH03H014450 1.8 FANTOM5 Ensembl ENCODE dbSUPER 28.4 -198.4 -198448 5 FOXA2 ARNT ARID4B SIN3A FEZF1 GLI4 ZNF121 GLIS2 FOS KLF7 SH3BP5-AS1 CCDC174 SLC6A6 CAPN7 NR2C2 ENSG00000228242 XPC ENSG00000230172 HDAC11-AS1 ENSG00000223398
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC174 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for CCDC174 Gene

Genomic Locations for CCDC174 Gene
20,914 bases
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:
    Recommended name:
    Coiled-coil domain-containing protein 174
    Protein Accession:
    Secondary Accessions:
    • Q96CS5

    Protein attributes for CCDC174 Gene

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

neXtProt entry for CCDC174 Gene

Post-translational modifications for CCDC174 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC174 Gene

No data available for DME Specific Peptides for CCDC174 Gene

Domains & Families for CCDC174 Gene

Gene Families for CCDC174 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC174 Gene


Graphical View of Domain Structure for InterPro Entry

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

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

Function for CCDC174 Gene

Molecular function for CCDC174 Gene

UniProtKB/Swiss-Prot Function:
Probably involved in neuronal development.

Phenotypes From GWAS Catalog for CCDC174 Gene

Gene Ontology (GO) - Molecular Function for CCDC174 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CCDC174: view

Phenotypes for CCDC174 Gene

MGI mutant phenotypes for CCDC174:
inferred from 1 alleles
GenomeRNAi human phenotypes for CCDC174:
genes like me logo Genes that share phenotypes with CCDC174: view

Human Phenotype Ontology for CCDC174 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC174 Gene

Localization for CCDC174 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC174 Gene

Nucleus. Note=In the nucleus of neuroblastoma cells, it colocalizes with EIF4A3, a component of exon junction complex. {ECO:0000269 PubMed:26358778}.

Subcellular locations from

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 CCDC174 gene
Compartment Confidence
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC174 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 26358778
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with CCDC174: view

Pathways & Interactions for CCDC174 Gene

SuperPathways for CCDC174 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC174 Gene


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:

Clone Products

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

No ASD Table

Relevant External Links for CCDC174 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC174 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of CCDC174 Gene:


SOURCE GeneReport for Unigene cluster for CCDC174 Gene:


mRNA Expression by UniProt/SwissProt for CCDC174 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CCDC174 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with CCDC174: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia CCDC174 33 34
  • 99.86 (n)
(Canis familiaris)
Mammalia CCDC174 33 34
  • 90.23 (n)
(Bos Taurus)
Mammalia C22H3ORF19 34
  • 90 (a)
CCDC174 33
  • 87.44 (n)
(Rattus norvegicus)
Mammalia Ccdc174 33
  • 86.31 (n)
(Mus musculus)
Mammalia Ccdc174 33 16 34
  • 85.77 (n)
(Ornithorhynchus anatinus)
Mammalia CCDC174 34
  • 70 (a)
(Gallus gallus)
Aves C12H3ORF19 33 34
  • 69.98 (n)
(Anolis carolinensis)
Reptilia CCDC174 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc174 33
  • 63.97 (n)
Str.10062 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1949 33
(Danio rerio)
Actinopterygii ccdc174 33 34
  • 62.52 (n)
Dr.16849 33
fruit fly
(Drosophila melanogaster)
Insecta CG7183 34
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
Species where no ortholog for CCDC174 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)
  • 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

Gene Tree for CCDC174 (if available)
Gene Tree for CCDC174 (if available)

Paralogs for CCDC174 Gene 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
rs869025342 Pathogenic 14,671,194(+) ACATG(A/G)TCTTT nc-transcript-variant, reference, stop-lost
rs1000129873 -- 14,652,396(+) TGTGA(C/G)GTCTG intron-variant
rs1000172495 -- 14,658,503(+) ATGTT(A/G)ACATT intron-variant
rs1000188976 -- 14,652,069(+) TGAAT(C/T)GGGCT intron-variant
rs1000595741 -- 14,664,031(+) TGGTT(G/T)TCTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC174 Gene

Variant ID Type Subtype PubMed ID
nsv999144 CNV gain 25217958
nsv589777 CNV loss 21841781
nsv508210 CNV deletion 20534489
esv2724945 CNV deletion 23290073

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC174 Gene

Disorders for CCDC174 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CCDC174 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypotonia, infantile, with psychomotor retardation
  • severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
infantile hypotonia
skull base neoplasm
  • tumors of skull base
skull base meningioma
  • meningioma of the skull base
- elite association - COSMIC cancer census association via MalaCards


  • Hypotonia, infantile, with psychomotor retardation (IHPMR) [MIM:616816]: An autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects. {ECO:0000269 PubMed:26358778}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CCDC174

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

No data available for Genatlas for CCDC174 Gene

Publications for CCDC174 Gene

  1. 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 OS (Human molecular genetics 2015) 3 4 60
  2. 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 60
  3. 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 QH … Chen Z (Genome research 2000) 2 3 60
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) Kırlı K … Görlich D (eLife 2015) 3 60

Products for CCDC174 Gene

Sources for CCDC174 Gene

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