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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 Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome and Infantile Hypotonia.

UniProtKB/Swiss-Prot for CCDC174 Gene

  • Probably involved in neuronal development.

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
GH03G014677 1 ENCODE 22.3 +26.7 26670 1.5 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 PAF1 ZHX2 PPARG KAT8 CCDC174 ENSG00000230172 C3orf20 PIR51472
GH03G014648 1.2 ENCODE 10.9 -1.2 -1190 4.4 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 CCDC174 ENSG00000235629
GH03G014478 1.2 ENCODE dbSUPER 10 -170.9 -170884 4.4 ZNF76 INSM2 KLF17 ZNF2 ZBTB7B GLIS2 EGR1 GATA2 ZNF366 SCRT2 SLC6A6 LINC01267 CCDC174 GC03P014432 GC03M014530 RNU6-905P
GH03G014885 1.1 Ensembl ENCODE dbSUPER 10.1 +233.6 233566 0.6 MBD2 E2F1 GATA3 TARDBP HLF THRB TCF7L2 FGD5 C3orf20 CCDC174 ENSG00000235629 FGD5-AS1 LOC105376963 PIR49239
GH03G014905 1.1 dbSUPER 10 +255.0 255031 3.5 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 CAPN7 SH3BP5-AS1 ENSG00000228242 CCDC174 ENSG00000235629 LOC105376963 PIR49239
- 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
ENSR00000148966 54 2001 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21

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

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

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

Molecular function for CCDC174 Gene

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

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 CCDC174 gene
Compartment Confidence
nucleus 5
cytosol 1

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

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

Inhibitory RNA Products

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
CCDC174
ECgene alternative splicing isoforms for
CCDC174

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:

CCDC174

SOURCE GeneReport for Unigene cluster for CCDC174 Gene:

Hs.517820

mRNA Expression by UniProt/SwissProt for CCDC174 Gene:

Q6PII3-CC174_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia CCDC174 34 35
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia CCDC174 34 35
  • 90.23 (n)
cow
(Bos Taurus)
Mammalia C22H3ORF19 35
  • 90 (a)
OneToOne
CCDC174 34
  • 87.44 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc174 34
  • 86.31 (n)
mouse
(Mus musculus)
Mammalia Ccdc174 34 16 35
  • 85.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC174 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves C12H3ORF19 34 35
  • 69.98 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC174 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc174 34
  • 63.97 (n)
Str.10062 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1949 34
zebrafish
(Danio rerio)
Actinopterygii ccdc174 34 35
  • 62.52 (n)
Dr.16849 34
fruit fly
(Drosophila melanogaster)
Insecta CG7183 35
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
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

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
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
esv2724945 CNV deletion 23290073
nsv508210 CNV deletion 20534489
nsv589777 CNV loss 21841781
nsv999144 CNV gain 25217958

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)
CCDC174
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC174

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: Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CC174_HUMAN
  • 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:
CCDC174
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 O.S. (Hum. Mol. Genet. 2015) 3 4 64
  2. 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 64
  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 Q.-H. … Chen Z. (Genome Res. 2000) 2 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64

Products for CCDC174 Gene

Sources for CCDC174 Gene

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