CCDC174 (coiled-coil domain containing 174)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 51244
Gene name Coiled-coil domain containing 174
Gene symbol CCDC174
Synonyms (NCBI Gene)
C3orf19HSPC212IHPMIHPMRctr1
Chromosome 3
Chromosome location 3p25.1
Summary 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.
1
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.
78
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616735 28033 ENSG00000154781
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Pathogenic rs869025342 RCV000207515
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CCDC174-related disorder Benign; Likely benign rs1901, rs759004491, rs146669257, rs142816619, rs143535330, rs56350241 RCV003980694
RCV003912230
RCV003968946
RCV003972943
RCV003940429
RCV003968381
Cervical cancer Benign; Likely benign rs144121914 RCV005900993
Colon adenocarcinoma Likely benign rs143535330 RCV005902537
Malignant tumor of urinary bladder Likely benign rs143535330 RCV005902538