Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs869025342	A>G	Pathogenic	Stop lost, genic downstream transcript variant, non coding transcript variant, terminator codon variant

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
MIRT644750	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT644749	hsa-miR-3919	HITS-CLIP	23824327
MIRT644748	hsa-miR-4756-3p	HITS-CLIP	23824327
MIRT644747	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT644745	hsa-miR-3183	HITS-CLIP	23824327
MIRT644746	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT644744	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT644743	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT644742	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT644741	hsa-miR-138-1-3p	HITS-CLIP	23824327
MIRT644740	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT644738	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT644739	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT644737	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT644736	hsa-miR-1260a	HITS-CLIP	23824327
MIRT644735	hsa-miR-1260b	HITS-CLIP	23824327
MIRT644734	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT644733	hsa-miR-6823-3p	HITS-CLIP	23824327
MIRT618532	hsa-miR-8485	HITS-CLIP	23824327
MIRT618531	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618530	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618529	hsa-miR-603	HITS-CLIP	23824327
MIRT618528	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT618527	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT618526	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT618525	hsa-miR-3941	HITS-CLIP	23824327
MIRT618524	hsa-miR-4672	HITS-CLIP	23824327
MIRT618523	hsa-miR-466	HITS-CLIP	23824327
MIRT618522	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT618521	hsa-miR-587	HITS-CLIP	23824327
MIRT527728	hsa-miR-4438	PAR-CLIP	22012620
MIRT527726	hsa-miR-4787-3p	PAR-CLIP	22012620
MIRT527727	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT527725	hsa-miR-5095	PAR-CLIP	22012620
MIRT527724	hsa-miR-7151-3p	PAR-CLIP	22012620
MIRT644752	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT644750	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT644751	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT644750	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT644749	hsa-miR-3919	HITS-CLIP	23824327
MIRT644748	hsa-miR-4756-3p	HITS-CLIP	23824327
MIRT644747	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT644745	hsa-miR-3183	HITS-CLIP	23824327
MIRT644746	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT644744	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT644743	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT644742	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT644741	hsa-miR-138-1-3p	HITS-CLIP	23824327
MIRT644740	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT644738	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT644739	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT644737	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT644736	hsa-miR-1260a	HITS-CLIP	23824327
MIRT644735	hsa-miR-1260b	HITS-CLIP	23824327
MIRT644734	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT644733	hsa-miR-6823-3p	HITS-CLIP	23824327
MIRT618532	hsa-miR-8485	HITS-CLIP	23824327
MIRT618531	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618530	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618529	hsa-miR-603	HITS-CLIP	23824327
MIRT618528	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT618527	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT618526	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT618525	hsa-miR-3941	HITS-CLIP	23824327
MIRT618524	hsa-miR-4672	HITS-CLIP	23824327
MIRT618523	hsa-miR-466	HITS-CLIP	23824327
MIRT618522	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT618521	hsa-miR-587	HITS-CLIP	23824327
MIRT527728	hsa-miR-4438	PAR-CLIP	22012620
MIRT527726	hsa-miR-4787-3p	PAR-CLIP	22012620
MIRT527727	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT527725	hsa-miR-5095	PAR-CLIP	22012620
MIRT527724	hsa-miR-7151-3p	PAR-CLIP	22012620

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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

MIM	HGNC	e!Ensembl
616735	28033	ENSG00000154781

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	Pathogenic	rs869025342	RCV000207515	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CCDC174-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abducens Nerve Palsy	Abducens palsy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION	Hypotonia, With Psychomotor Retardation	ORPHANET_DG	26358778	★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION	Hypotonia, With Psychomotor Retardation	CTD_human_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION	Hypotonia, With Psychomotor Retardation	CLINVAR_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	26358778	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26358778	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome	Orphanet		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Strabismus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only

CCDC174 (coiled-coil domain containing 174)