CCDC174 (coiled-coil domain containing 174)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51244
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil domain containing 174
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCDC174
Synonyms (NCBI Gene) Gene synonyms aliases
C3orf19, HSPC212, IHPM, IHPMR, ctr1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.1
Summary Summary of gene provided in NCBI Entrez 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, translati
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs869025342 A>G Pathogenic Stop lost, genic downstream transcript variant, non coding transcript variant, terminator codon variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(78)
miRTarBase ID miRNA Experiments Reference
MIRT024778 hsa-miR-215-5p Microarray 19074876
MIRT026218 hsa-miR-192-5p Microarray 19074876
MIRT644752 hsa-miR-3680-5p HITS-CLIP 23824327
MIRT644750 hsa-miR-483-3p HITS-CLIP 23824327
MIRT644751 hsa-miR-3925-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 32296183, 35271311
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 26358778
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616735 28033 ENSG00000154781
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6PII3
Protein name Coiled-coil domain-containing protein 174
Protein function Probably involved in neuronal development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13300 DUF4078 214 → 302 Domain of unknown function (DUF4078) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:26358778}.
Sequence 
MDRRKKPLDVTASSLVDLKAELFRKQEEFKQEKLLKDSGVFGKPKTTNKKPSIWSKQNVG
VSNRAEKDAEQKIEEQKTLDKAREKLEEKAKLYEKMTKGDFIDEEVEDMYLVDFTQKIID
KRKEMEASGAHRDSQKAGERDDDEENLPEGEIPPPQDPSEEWVDYVDSLGRSRRCMRKDL
PDLLEMDKNLQGRLFISPANEKTLLSEDMRKELQRQQWEEEEREALKRPMGPVHYEDIRE
NEARQLGVGYFAFARDKELRNKQMKTLEMLREQTTDQRTKRENIKEKRKAILEARLAKLR
QKKMKKSKEGGTEEENRDGDVIGPLPPEPEAVPTPRPAAQSSKVEVIVQERKDTKPGVPH
IREWDRGKEFSFGYWSKRQSDLRAERDPEFAPPSDYFVGQKRTGFSSSQAWSRPGPAQSD
PGQCPDQSHGPSPEHTSPTPAPDNPPQAPTVTFKTLDDMISYYKQVT
Sequence length 467
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome rs869025342 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Sjogren-Larsson Syndrome Sjogren-Larsson Syndrome N/A N/A GWAS