CCDC14

Summary

CCDC14 (coiled-coil domain containing 14, HGNC:25766) is a protein-coding gene on chromosome 3q21.1, encoding Coiled-coil domain-containing protein 14 (Q49A88). Negatively regulates centriole duplication.

Involved in protein localization to centrosome. Located in centriolar satellite and ciliary basal body.

Source: NCBI Gene 64770 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 164 total — 1 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_001366335

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25766
Approved symbol	CCDC14
Name	coiled-coil domain containing 14
Location	3q21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12892, DKFZp434L1050
Ensembl gene	ENSG00000175455
Ensembl biotype	protein_coding
OMIM	617147
Entrez	64770

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 12 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000310351, ENST00000409657, ENST00000409697, ENST00000417438, ENST00000419247, ENST00000426152, ENST00000433542, ENST00000434954, ENST00000435910, ENST00000438440, ENST00000463996, ENST00000471054, ENST00000477268, ENST00000478956, ENST00000479903, ENST00000483247, ENST00000485727, ENST00000485949, ENST00000487498, ENST00000488653, ENST00000489746, ENST00000495381, ENST00000852725, ENST00000852726

RefSeq mRNA: 7 — MANE Select: NM_001366335 NM_001308317, NM_001366335, NM_001366336, NM_001366337, NM_001366338, NM_001366339, NM_022757

CCDS: CCDS3025, CCDS77806, CCDS93358

Canonical transcript exons

ENST00000409697 — 13 exons

Exon	Start	End
ENSE00001932693	123913422	123915718
ENSE00003459697	123948896	123949132
ENSE00003464793	123931102	123931234
ENSE00003495601	123956740	123956795
ENSE00003511304	123956046	123956115
ENSE00003521174	123956355	123956427
ENSE00003521988	123933673	123933755
ENSE00003546890	123944849	123944990
ENSE00003609143	123948691	123948785
ENSE00003630321	123931308	123931526
ENSE00003680848	123946803	123947319
ENSE00003686450	123955843	123955965
ENSE00003732194	123961144	123961229

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 98.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.5395 / max 709.2069, expressed in 1767 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44227	17.5820	1724
44229	3.9927	1223
44230	0.9975	495
44228	0.4963	248
44231	0.4711	252

Top tissues by expression

262 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	98.08	gold quality
epithelial cell of pancreas	CL:0000083	97.18	gold quality
oviduct epithelium	UBERON:0004804	96.96	gold quality
ileal mucosa	UBERON:0000331	96.57	gold quality
right uterine tube	UBERON:0001302	96.52	gold quality
ileum	UBERON:0002116	96.47	silver quality
rectum	UBERON:0001052	96.45	gold quality
embryo	UBERON:0000922	96.02	gold quality
ganglionic eminence	UBERON:0004023	96.02	gold quality
calcaneal tendon	UBERON:0003701	96.01	gold quality
ventricular zone	UBERON:0003053	95.62	gold quality
transverse colon	UBERON:0001157	95.30	gold quality
endothelial cell	CL:0000115	95.18	gold quality
stromal cell of endometrium	CL:0002255	94.95	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.94	gold quality
body of uterus	UBERON:0009853	94.66	gold quality
colonic mucosa	UBERON:0000317	94.49	gold quality
right ovary	UBERON:0002118	94.33	gold quality
left ovary	UBERON:0002119	94.17	gold quality
right testis	UBERON:0004534	93.67	gold quality
mucosa of transverse colon	UBERON:0004991	93.60	gold quality
colon	UBERON:0001155	93.58	gold quality
large intestine	UBERON:0000059	93.56	gold quality
ovary	UBERON:0000992	93.52	gold quality
upper arm skin	UBERON:0004263	93.48	gold quality
endocervix	UBERON:0000458	93.47	gold quality
left testis	UBERON:0004533	93.30	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.25	gold quality
testis	UBERON:0000473	93.21	gold quality
intestine	UBERON:0000160	93.20	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

96 targeting CCDC14, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc14	ENSDARG00000098734
mus_musculus	Ccdc14	ENSMUSG00000022833
rattus_norvegicus	Ccdc14	ENSRNOG00000021469

Protein

Protein identifiers

Coiled-coil domain-containing protein 14 — Q49A88 (reviewed: Q49A88)

All UniProt accessions (10): A0A0A0MR27, C9J6B5, C9JSI8, C9JU82, C9JWZ1, Q49A88, H3BM06, H7C2U5, H7C5T3, J3QT39

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization.

Subunit / interactions. Interacts with CEP63.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriolar satellite.

Isoforms (6)

UniProt ID	Names	Canonical?
Q49A88-1	1	yes
Q49A88-2	2
Q49A88-3	3
Q49A88-4	4
Q49A88-5	5
Q49A88-6	6

RefSeq proteins (7): NP_001295246, NP_001353264, NP_001353265, NP_001353266, NP_001353267, NP_001353268, NP_073594 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029343	CCDC14	Family

Pfam: PF15254

UniProt features (31 total): sequence conflict 8, splice variant 7, region of interest 4, compositionally biased region 4, modified residue 4, coiled-coil region 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q49A88-F1	57.45	0.19

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 124, 670, 754, 798

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 110 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, AREB6_01, GOCC_MICROTUBULE_ORGANIZING_CENTER, PATIL_LIVER_CANCER, GOBP_NEURAL_NUCLEUS_DEVELOPMENT, GOBP_SUBSTANTIA_NIGRA_DEVELOPMENT, GOBP_MIDBRAIN_DEVELOPMENT, GOCC_CENTROSOME, OCT1_07, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, TGANTCA_AP1_C, PPAR_DR1_Q2, NRF2_Q4

GO Biological Process (2): substantia nigra development (GO:0021762), protein localization to centrosome (GO:0071539)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (7): centrosome (GO:0005813), cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	2
cellular anatomical structure	2
midbrain development	1
neural nucleus development	1
protein localization to microtubule organizing center	1
binding	1
centriole	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
centrosome	1
cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

718 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC14	KIAA0753	Q2KHM9	807
CCDC14	CEP63	Q96MT8	786
CCDC14	CCDC18	Q5T9S5	648
CCDC14	CCDC66	A2RUB6	639
CCDC14	CEP76	Q8TAP6	618
CCDC14	CEP131	Q9UPN4	609
CCDC14	ANXA10	Q9UJ72	536
CCDC14	PLK4	O00444	519
CCDC14	CCDC13	Q8IYE1	515
CCDC14	CEP72	Q9P209	512
CCDC14	TEX9	Q8N6V9	490
CCDC14	PIBF1	Q8WXW3	481
CCDC14	GEN1	Q17RS7	457
CCDC14	OFD1	O75665	455
CCDC14	SMC6	Q96SB8	452

IntAct

74 interactions, top by confidence:

A	B	Type	Score
IKBKG	IKBKB	psi-mi:“MI:0914”(association)	0.980
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
MED4	MED14	psi-mi:“MI:0914”(association)	0.740
PCM1	CCDC14	psi-mi:“MI:0915”(physical association)	0.730
CCDC14	CEP63	psi-mi:“MI:0915”(physical association)	0.710
PCM1	KIAA0753	psi-mi:“MI:0914”(association)	0.650
CCDC14	MAGEA11	psi-mi:“MI:0915”(physical association)	0.560
CCDC14	PEX5	psi-mi:“MI:0915”(physical association)	0.560
MAGEA11	CCDC14	psi-mi:“MI:0915”(physical association)	0.560
PEX5	CCDC14	psi-mi:“MI:0915”(physical association)	0.560
MAGEA11	CCDC14	psi-mi:“MI:0915”(physical association)	0.550
JPH4	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
MAGEA1	MAGEB3	psi-mi:“MI:0914”(association)	0.530
CCDC14	PIK3R3	psi-mi:“MI:0915”(physical association)	0.490
KIAA0753	OFD1	psi-mi:“MI:2364”(proximity)	0.480
CCDC13	CEP290	psi-mi:“MI:0914”(association)	0.460
CCDC14	DHRS2	psi-mi:“MI:0915”(physical association)	0.400
	CCDC14	psi-mi:“MI:0915”(physical association)	0.370
CCDC14	TRX2	psi-mi:“MI:0915”(physical association)	0.370
CCDC14		psi-mi:“MI:0915”(physical association)	0.370
PLAC9	CCDC14	psi-mi:“MI:0915”(physical association)	0.370
KDM1A	CCDC14	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (200): CCDC14 (Two-hybrid), CCDC14 (Two-hybrid), CCDC14 (Affinity Capture-MS), CCDC14 (Affinity Capture-MS), CCDC14 (Two-hybrid), CCDC14 (Two-hybrid), CCDC14 (Proximity Label-MS), STIP1 (Proximity Label-MS), CEP55 (Proximity Label-MS), CDK1 (Proximity Label-MS), ZWINT (Proximity Label-MS), SDCCAG3 (Proximity Label-MS), COMMD8 (Proximity Label-MS), CEP85 (Proximity Label-MS), SKA3 (Proximity Label-MS)

ESM2 similar proteins: A0A087WRU1, A0JNH1, A2RUB1, A6QNQ6, B0S6S9, B1WC58, D3Z987, D3ZJ47, E1BC15, O60673, P28358, P28359, P56716, P70347, Q0P5X5, Q0VAV2, Q0VBV7, Q15468, Q2M2Z5, Q3UXL4, Q3V089, Q49A88, Q569L8, Q5BQN8, Q5CZC0, Q5QGS0, Q5T1N1, Q5VWN6, Q60988, Q61493, Q62924, Q6ZP01, Q6ZU52, Q6ZVD7, Q80U59, Q80WQ8, Q86WS4, Q86YC2, Q8CB14, Q8IUR6

Diamond homologs: Q49A88, Q8K2J4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 69 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Loss of Nlp from mitotic centrosomes	9	39.6×	9e-11
Loss of proteins required for interphase microtubule organization from the centrosome	9	39.6×	9e-11
AURKA Activation by TPX2	9	38.1×	1e-10
Recruitment of mitotic centrosome proteins and complexes	9	34.0×	2e-10
Regulation of PLK1 Activity at G2/M Transition	9	31.7×	4e-10
Anchoring of the basal body to the plasma membrane	10	31.4×	9e-11
Recruitment of NuMA to mitotic centrosomes	9	29.1×	7e-10
Organelle biogenesis and maintenance	5	9.2×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	5	59.1×	3e-06
cilium assembly	10	11.9×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

164 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	127
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1340702	GRCh37/hg19 3q21.1-21.2(chr3:123426881-124387174)x1	Pathogenic
155562	GRCh38/hg38 3q21.1(chr3:123844472-123900064)x1	Likely pathogenic
394543	GRCh37/hg19 3q21.1(chr3:123477546-123688038)x1	Likely pathogenic

SpliceAI

2525 predictions. Top by Δscore:

Variant	Effect	Δscore
3:123931096:TTTTA:T	donor_loss	1.0000
3:123931097:TTTA:T	donor_loss	1.0000
3:123931101:CCTG:C	donor_loss	1.0000
3:123931230:CAATT:C	acceptor_gain	1.0000
3:123931233:TT:T	acceptor_gain	1.0000
3:123931235:C:CC	acceptor_gain	1.0000
3:123933671:A:AC	donor_gain	1.0000
3:123933672:C:CC	donor_gain	1.0000
3:123933672:CATT:C	donor_gain	1.0000
3:123933752:CTGC:C	acceptor_gain	1.0000
3:123944987:TCCT:T	acceptor_gain	1.0000
3:123944988:CCTC:C	acceptor_gain	1.0000
3:123944989:CT:C	acceptor_gain	1.0000
3:123944991:C:CC	acceptor_gain	1.0000
3:123947117:T:TA	donor_gain	1.0000
3:123947316:CTTC:C	acceptor_gain	1.0000
3:123947320:C:CA	acceptor_loss	1.0000
3:123947321:T:C	acceptor_loss	1.0000
3:123948667:A:AC	donor_gain	1.0000
3:123948668:T:C	donor_gain	1.0000
3:123949133:C:CC	acceptor_gain	1.0000
3:123949136:A:AC	acceptor_gain	1.0000
3:123922814:AC:A	donor_gain	0.9900
3:123922815:CC:C	donor_gain	0.9900
3:123931232:ATT:A	acceptor_gain	0.9900
3:123931233:TTCT:T	acceptor_loss	0.9900
3:123931234:TCTAA:T	acceptor_loss	0.9900
3:123931385:C:CT	donor_gain	0.9900
3:123931386:T:TT	donor_gain	0.9900
3:123931525:CA:C	acceptor_gain	0.9900

AlphaMissense

5927 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000022919 (3:123947000 A>C), RS1000036252 (3:123928867 T>C), RS1000083174 (3:123918786 C>T), RS1000184870 (3:123922249 C>T), RS1000188181 (3:123953444 C>T), RS1000217929 (3:123953102 C>T), RS1000311192 (3:123960818 T>C), RS1000359998 (3:123913977 C>T), RS1000364814 (3:123960945 T>C), RS1000490995 (3:123929093 A>T), RS1000522543 (3:123923819 C>T), RS1000525574 (3:123952029 G>A,T), RS1000558429 (3:123951716 C>T), RS1000640662 (3:123912585 T>C), RS1000655800 (3:123907605 C>T)

Disease associations

OMIM: gene MIM:617147 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005316_140	Intelligence (MTAG)	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Hydrogen Peroxide	affects expression, increases expression	2
Testosterone	decreases expression, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases abundance, affects cotreatment, decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	decreases expression, affects cotreatment	1
Coumestrol	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Manganese	increases abundance, affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ouabain	decreases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.