On this page
CCDC174
coiled-coil domain containing 174
CCDC174 is located on the short (p) arm of chromosome 3, at band 3p25.1. Arm ratio per GRCh38 - banding schematic.
Explore chromosome 3 in the library →Available at Jeen Health
Clinical tests that include this
Overview
CCDC174 (coiled-coil domain containing 174) is a human gene that encodes a protein containing coiled-coil structural domains. Located on the short arm of chromosome 3, this gene belongs to a large family of coiled-coil domain containing genes found throughout the human genome.
Coiled-coil domains are structural motifs formed when protein chains wrap around each other in a helical fashion, creating stable scaffolds for molecular interactions. Many proteins containing these domains participate in cellular organisation, signalling networks, and structural maintenance, though the specific contribution of CCDC174 to these processes has not been fully characterised.
The gene is catalogued in genomic databases including HGNC (ID: 28033) and UniProt (accession Q6PII3), enabling researchers to track emerging findings about its function and potential clinical relevance as studies progress.
What the gene does
The precise molecular function of the CCDC174 protein remains an area of active investigation. Proteins containing coiled-coil domains typically serve as molecular scaffolds that bring together different cellular components, enabling coordinated responses to internal and external signals.
Coiled-coil structures create extended rod-like or fibrous architectures that can span cellular compartments, anchor proteins to specific locations, or facilitate the assembly of larger protein complexes. These structural features suggest that CCDC174 may participate in organising cellular machinery, though the specific pathways and interaction partners have not been definitively established.
Research into coiled-coil domain containing proteins has revealed diverse roles across cellular biology, from maintaining cytoskeletal integrity to regulating membrane trafficking and signal transduction. Understanding which of these broad functional categories applies to CCDC174 will require further experimental characterisation of the protein's localisation, binding partners, and effects when genetically modified in model systems.
Video: Genetics 101
Chromosome location
CCDC174 is located at chromosomal band 3p25.1 on the short arm (p) of chromosome 3. This cytogenetic address places the gene near the telomeric end of the chromosome's short arm, a region containing numerous other genes with varied biological functions.
The structural organisation of the CCDC174 gene, including its exon count and transcript architecture, has not been comprehensively annotated in public databases at present. As sequencing technologies and gene prediction algorithms continue to improve, more detailed information about the gene's genomic structure may become available.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. The gene name indicates the presence of coiled-coil structural motifs, which are predicted based on the amino acid sequence patterns typical of these helical protein-protein interaction domains.
Coiled-coil regions are identified by characteristic heptad repeat patterns in the protein sequence, where hydrophobic amino acids appear at regular intervals to stabilise the intertwined helical structure. Without detailed structural studies or comprehensive domain mapping, the precise boundaries, number, and functional significance of coiled-coil segments within CCDC174 remain to be determined.
The overall length of the CCDC174 protein and the presence of additional functional motifs beyond coiled-coil domains have not been conclusively established in current protein databases, reflecting the early stage of research into this gene product.
Key variants
Genetic variation in CCDC174 has been documented through large-scale population sequencing projects and clinical variant databases. As with most human genes, individuals carry numerous single nucleotide variants and other sequence differences in CCDC174, the majority of which appear to have no discernible impact on health.
The clinical interpretation of CCDC174 variants is complicated by limited understanding of the protein's normal function and lack of established disease associations. Variant classification requires evidence linking specific sequence changes to altered protein activity and clinical outcomes, data that accumulate gradually as more individuals undergo genetic testing and research studies characterise gene function.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
At present, CCDC174 has not been definitively associated with specific inherited conditions in clinical genetics literature. This may reflect either that pathogenic variants in this gene are rare, that associated phenotypes have not yet been recognised, or that the gene may not play a critical role in human health when altered.
Many human genes remain incompletely characterised with respect to disease associations, particularly those not included in targeted clinical gene panels. As whole genome sequencing becomes more widely used in healthcare and research settings, previously unrecognised gene-disease relationships may emerge for CCDC174 and similar genes.
No disease links recorded for this gene in our reference set.
UK clinical status
Frequently asked questions
What does the CCDC174 gene do?
The specific biological function of CCDC174 is not yet fully understood. The protein contains coiled-coil structural domains that typically enable protein-protein interactions, suggesting a role in cellular organisation or signalling, though this requires further research to confirm.
Are there health conditions linked to CCDC174?
Currently, no specific inherited conditions have been definitively associated with pathogenic variants in CCDC174. This may change as more genetic and clinical research is conducted on this gene.
Is CCDC174 tested on NHS genetic panels?
CCDC174 is not currently included on NHS Genomic Medicine Service gene panels, reflecting the absence of established clinical associations that would warrant routine testing in diagnostic settings.