CCDC18

Summary

CCDC18 (coiled-coil domain containing 18, HGNC:30370) is a protein-coding gene on chromosome 1p22.1, encoding Coiled-coil domain-containing protein 18 (Q5T9S5). May promote pre-adipocyte differentiation.

Located in centriolar satellite.

Source: NCBI Gene 343099 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 243 total — 1 pathogenic
• MANE Select transcript: NM_001378204

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30370
Approved symbol	CCDC18
Name	coiled-coil domain containing 18
Location	1p22.1
Locus type	gene with protein product
Status	Approved
Aliases	NY-SAR-41
Ensembl gene	ENSG00000122483
Ensembl biotype	protein_coding
OMIM	621137
Entrez	343099

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 13 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000343253, ENST00000370276, ENST00000401026, ENST00000421014, ENST00000447456, ENST00000448243, ENST00000455267, ENST00000479653, ENST00000481180, ENST00000528942, ENST00000688770, ENST00000690025, ENST00000690592, ENST00000692873, ENST00000935051, ENST00000935052, ENST00000935053, ENST00000935054, ENST00000935055, ENST00000956828, ENST00000956829

RefSeq mRNA: 3 — MANE Select: NM_001378204 NM_001306076, NM_001378204, NM_206886

CCDS: CCDS41356, CCDS76180, CCDS91004

Canonical transcript exons

ENST00000690025 — 29 exons

Exon	Start	End
ENSE00000831156	93236248	93236390
ENSE00001333640	93239683	93239896
ENSE00001452235	93278463	93278730
ENSE00001452239	93270347	93270814
ENSE00003490619	93264701	93264901
ENSE00003495662	93254471	93254614
ENSE00003500634	93221609	93221743
ENSE00003509238	93192000	93192106
ENSE00003531492	93205510	93205631
ENSE00003533797	93183360	93183495
ENSE00003549286	93207107	93207398
ENSE00003560903	93232426	93232593
ENSE00003573690	93214743	93214966
ENSE00003583987	93186345	93186503
ENSE00003590608	93212101	93212261
ENSE00003594546	93258748	93258885
ENSE00003594724	93217738	93217869
ENSE00003595173	93201892	93201988
ENSE00003597308	93256335	93256538
ENSE00003604502	93183978	93184146
ENSE00003606360	93239310	93239473
ENSE00003636420	93226333	93226449
ENSE00003653060	93246838	93246954
ENSE00003661139	93210802	93210926
ENSE00003665224	93221859	93221936
ENSE00003665497	93193616	93193744
ENSE00003673225	93216636	93216746
ENSE00003684726	93246105	93246204
ENSE00003936589	93180724	93180852

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 90.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6146 / max 129.6984, expressed in 1516 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4058	5.0900	1211
201577	1.2319	745
4057	0.2927	104

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.94	gold quality
ventricular zone	UBERON:0003053	88.39	gold quality
bone marrow cell	CL:0002092	84.86	gold quality
left testis	UBERON:0004533	82.00	gold quality
calcaneal tendon	UBERON:0003701	81.99	gold quality
right testis	UBERON:0004534	81.66	gold quality
oocyte	CL:0000023	81.62	gold quality
testis	UBERON:0000473	81.57	gold quality
ganglionic eminence	UBERON:0004023	80.61	gold quality
monocyte	CL:0000576	80.33	gold quality
granulocyte	CL:0000094	80.26	gold quality
leukocyte	CL:0000738	80.06	gold quality
right lobe of liver	UBERON:0001114	77.71	gold quality
adrenal tissue	UBERON:0018303	77.03	gold quality
spleen	UBERON:0002106	77.02	gold quality
colonic epithelium	UBERON:0000397	76.99	gold quality
lymph node	UBERON:0000029	76.88	gold quality
vermiform appendix	UBERON:0001154	76.82	gold quality
gastrocnemius	UBERON:0001388	76.45	gold quality
stromal cell of endometrium	CL:0002255	76.41	gold quality
thymus	UBERON:0002370	75.89	gold quality
muscle of leg	UBERON:0001383	75.86	gold quality
hindlimb stylopod muscle	UBERON:0004252	75.24	gold quality
tendon	UBERON:0000043	75.06	gold quality
rectum	UBERON:0001052	75.05	gold quality
right lung	UBERON:0002167	74.43	gold quality
bone marrow	UBERON:0002371	74.25	gold quality
mucosa of transverse colon	UBERON:0004991	74.25	gold quality
lower esophagus mucosa	UBERON:0035834	74.10	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	19.12
E-CURD-112	yes	18.99
E-ANND-3	yes	5.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting CCDC18, 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-5692A	100.00	74.40	6850
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-556-5P	97.75	66.17	473
HSA-MIR-610	96.84	67.98	905

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc18	ENSDARG00000078822
danio_rerio	si:ch73-389b16.1	ENSDARG00000101586
mus_musculus	Ccdc18	ENSMUSG00000056531
rattus_norvegicus	Ccdc18	ENSRNOG00000024545

Paralogs (2): DEUP1 (ENSG00000165325), CEP63 (ENSG00000182923)

Protein

Protein identifiers

Coiled-coil domain-containing protein 18 — Q5T9S5 (reviewed: Q5T9S5)

Alternative names: Sarcoma antigen NY-SAR-24

All UniProt accessions (11): A0A8I5KNM5, A0A8I5KRA2, A0A8I5KUE1, A0A8I5KWA2, E9PFB9, Q5T9S5, H0YCD6, H0YDP2, H7C0C9, J3KP97, Q5T9S2

UniProt curated annotations — full annotation on UniProt →

Function. May promote pre-adipocyte differentiation.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q5T9S5-1	1	yes
Q5T9S5-2	2

RefSeq proteins (3): NP_001293005, NP_001365133, NP_996769 (=MANE)

Domains & families (InterPro)

UniProt features (15 total): sequence conflict 6, coiled-coil region 4, modified residue 2, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T9S5-F1	71.83	0.08

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 (2): 45, 1355

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 116 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, chr1p22, GOBP_ADIPOSE_TISSUE_DEVELOPMENT, TGGAAA_NFAT_Q4_01, GOBP_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_CENTRIOLAR_SATELLITE, GEORGES_TARGETS_OF_MIR192_AND_MIR215

GO Biological Process (1): positive regulation of adipose tissue development (GO:1904179)

GO Molecular Function (0):

GO Cellular Component (3): centriolar satellite (GO:0034451), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
adipose tissue development	1
regulation of adipose tissue development	1
centrosome	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

738 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC18	CCDC14	Q49A88	648
CCDC18	PRADC1	Q9BSG0	588
CCDC18	KIAA0753	Q2KHM9	521
CCDC18	PRSS37	A4D1T9	509
CCDC18	CCDC13	Q8IYE1	489
CCDC18	CEP126	Q9P2H0	478
CCDC18	TMEM35B	Q8NCS4	478
CCDC18	KLHDC8A	Q8IYD2	477
CCDC18	CCDC12	Q8WUD4	476
CCDC18	SFXN4	Q6P4A7	471
CCDC18	UACA	Q9BZF9	470
CCDC18	NUDT7	P0C024	464
CCDC18	TMEM71	Q6P5X7	441
CCDC18	ZNF490	Q9ULM2	430
CCDC18	CCDC66	A2RUB6	423

IntAct

41 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
PRPF19	AQR	psi-mi:“MI:0914”(association)	0.790
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
GALK2	POTEF	psi-mi:“MI:0914”(association)	0.530
EMILIN1	METTL15	psi-mi:“MI:0914”(association)	0.530
CDR2	IGSF3	psi-mi:“MI:0914”(association)	0.530
COG3	TBCC	psi-mi:“MI:0914”(association)	0.530
NDEL1	OFD1	psi-mi:“MI:0914”(association)	0.530
CCDC13	CEP290	psi-mi:“MI:0914”(association)	0.460
Cep135		psi-mi:“MI:0914”(association)	0.350
Ska1	HSPD1	psi-mi:“MI:0914”(association)	0.350
Cep131	WBP2	psi-mi:“MI:0914”(association)	0.350
OFD1	CCDC14	psi-mi:“MI:0914”(association)	0.350
Lrrcc1	CCDC14	psi-mi:“MI:0914”(association)	0.350
FAM167A	SHTN1	psi-mi:“MI:0914”(association)	0.350
NDEL1	SHTN1	psi-mi:“MI:0914”(association)	0.350
SYCE1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
BFSP1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
COMT	AP1G1	psi-mi:“MI:0914”(association)	0.350
CENPQ	ZFC3H1	psi-mi:“MI:0914”(association)	0.350
GLRX	HPRT1	psi-mi:“MI:0914”(association)	0.350
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
OFD1	PSMD14	psi-mi:“MI:2364”(proximity)	0.270
PCM1	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
ODF2	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP135	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
POC5	PSMD14	psi-mi:“MI:2364”(proximity)	0.270
CEP63	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
EYA2	CNOT1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (96): CCDC18 (Affinity Capture-MS), CCDC18 (Proximity Label-MS), CCDC18 (Proximity Label-MS), CCDC18 (Proximity Label-MS), CCDC18 (Proximity Label-MS), CCDC18 (Proximity Label-MS), CCDC18 (Proximity Label-MS), CCDC18 (Proximity Label-MS), CCDC18 (Proximity Label-MS), CCDC18 (Affinity Capture-MS), CCDC18 (Affinity Capture-MS), CCDC18 (Affinity Capture-MS), CCDC18 (Affinity Capture-MS), CCDC18 (Affinity Capture-MS), CCDC18 (Affinity Capture-MS)

ESM2 similar proteins: A6QR54, A8WG43, A9UM82, B2RZ86, B3DLE8, E9Q1U1, P0CAP1, Q08B20, Q08DR9, Q0VBY1, Q2T9U2, Q3SWS9, Q3UIJ9, Q4R7H3, Q4R8C3, Q53EZ4, Q5DTN8, Q5EB94, Q5M9N0, Q5PQ23, Q5RI56, Q5T9S5, Q5ZKK5, Q640L5, Q66H89, Q6NRC9, Q6NRW2, Q6P5D4, Q6TFL3, Q6ZU80, Q70FJ1, Q7ZW57, Q8BI22, Q8BVL9, Q8CDI6, Q8CDI7, Q8HYY4, Q8IUD2, Q8N998, Q8NCX0

Diamond homologs: Q5T9S5, Q640L5, Q9PW73

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 58 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
Activation of BAD and translocation to mitochondria	7	140.2×	2e-12
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	123.8×	3e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	123.8×	3e-12
Activation of BH3-only proteins	7	91.5×	3e-11
RHO GTPases activate PKNs	7	58.4×	5e-10
Intrinsic Pathway for Apoptosis	7	53.9×	7e-10
FOXO-mediated transcription	5	44.2×	8e-07
Loss of Nlp from mitotic centrosomes	9	37.6×	5e-11

GO biological processes:

GO term	Partners	Fold	FDR
substantia nigra development	6	43.1×	1e-06
protein targeting	5	35.9×	4e-05
intracellular protein localization	10	20.5×	2e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	169
Likely benign	20
Benign	17

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
151368	GRCh38/hg38 1p22.1(chr1:92490929-93507291)x1	Pathogenic

SpliceAI

5317 predictions. Top by Δscore:

Variant	Effect	Δscore
1:93180052:A:AC	donor_gain	1.0000
1:93180053:C:CT	donor_gain	1.0000
1:93183357:A:AG	acceptor_gain	1.0000
1:93183358:A:G	acceptor_gain	1.0000
1:93183359:GAAAT:G	acceptor_gain	1.0000
1:93183976:A:AG	acceptor_gain	1.0000
1:93183977:G:GG	acceptor_gain	1.0000
1:93186339:TTTCA:T	acceptor_loss	1.0000
1:93186340:TTCAG:T	acceptor_loss	1.0000
1:93186341:TCAGA:T	acceptor_loss	1.0000
1:93186342:CA:C	acceptor_loss	1.0000
1:93186343:A:AC	acceptor_loss	1.0000
1:93186344:G:GT	acceptor_loss	1.0000
1:93186344:GAT:G	acceptor_gain	1.0000
1:93186504:G:GG	donor_gain	1.0000
1:93191994:TTTTA:T	acceptor_loss	1.0000
1:93191996:TTAG:T	acceptor_loss	1.0000
1:93191997:TA:T	acceptor_loss	1.0000
1:93191998:A:AG	acceptor_gain	1.0000
1:93191999:G:GG	acceptor_gain	1.0000
1:93192104:GAG:G	donor_gain	1.0000
1:93192105:AGGT:A	donor_loss	1.0000
1:93192106:GGTA:G	donor_loss	1.0000
1:93192107:G:C	donor_loss	1.0000
1:93192107:G:GG	donor_gain	1.0000
1:93192108:T:A	donor_loss	1.0000
1:93193613:T:G	acceptor_gain	1.0000
1:93193613:TA:T	acceptor_loss	1.0000
1:93193614:A:AG	acceptor_gain	1.0000
1:93193614:AG:A	acceptor_loss	1.0000

AlphaMissense

9740 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:93193620:G:C	A192P	0.997
1:93201914:G:C	A241P	0.997
1:93201926:G:C	A245P	0.997
1:93214926:T:C	L559P	0.997
1:93246185:T:C	L1020P	0.997
1:93183447:T:C	L29P	0.996
1:93246199:G:C	A1025P	0.996
1:93201936:T:C	L248P	0.995
1:93246164:T:C	L1013P	0.995
1:93232511:T:C	L792P	0.994
1:93239881:T:C	L988P	0.993
1:93246196:G:C	A1024P	0.993
1:93192075:G:C	A180P	0.992
1:93201918:T:C	L242P	0.992
1:93216679:T:C	L587P	0.992
1:93226343:T:C	L728P	0.992
1:93232448:T:C	L771P	0.992
1:93239809:T:C	L964P	0.992
1:93239830:T:C	L971P	0.992
1:93201907:G:C	R238S	0.991
1:93201907:G:T	R238S	0.991
1:93232562:T:C	L809P	0.991
1:93236270:T:C	L827P	0.991
1:93239893:T:C	L992P	0.991
1:93193633:T:C	L196P	0.990
1:93214830:T:C	L527P	0.990
1:93214842:T:C	L531P	0.990
1:93216667:T:C	L583P	0.990
1:93246195:A:C	R1023S	0.990
1:93246195:A:T	R1023S	0.990

dbSNP variants (sampled 300 via entrez): RS1000006426 (1:93224022 C>A), RS1000027098 (1:93212537 A>G), RS1000038747 (1:93212873 A>G), RS1000054194 (1:93262740 C>T), RS1000210042 (1:93228044 A>G), RS1000241019 (1:93228312 G>A), RS1000270723 (1:93179014 C>G), RS1000321081 (1:93259611 G>T), RS1000419562 (1:93204728 C>T), RS1000431545 (1:93262176 C>T), RS1000445489 (1:93185778 A>G), RS1000456892 (1:93186079 G>A), RS1000478785 (1:93252773 C>T), RS1000485068 (1:93234901 T>G), RS1000545849 (1:93226635 G>A,C)

Disease associations

OMIM: gene MIM:621137 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST004600_64	Eosinophil percentage of white cells	3.000000e-11
GCST004606_168	Eosinophil count	1.000000e-12
GCST004617_56	Eosinophil percentage of granulocytes	2.000000e-10
GCST004623_148	Neutrophil percentage of granulocytes	7.000000e-10
GCST004624_194	Sum eosinophil basophil counts	8.000000e-12
GCST007733_30	Serum uric acid levels	5.000000e-07
GCST008477_35	Emphysema annual change measurement in smokers (adjusted lung density)	5.000000e-06
GCST90002402_483	Platelet count	9.000000e-12

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0004761	uric acid measurement
EFO:0007626	emphysema imaging measurement
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression, increases expression	3
Valproic Acid	increases expression, decreases expression	3
Cyclosporine	decreases expression, increases expression	3
sodium arsenite	decreases expression, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Cadmium Chloride	increases expression	2
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
sulforaphane	increases expression	1
butyraldehyde	decreases expression	1
manganese chloride	increases abundance, increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
ferrous chloride	decreases expression	1
nickel sulfate	decreases expression	1
1-nitropyrene	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
avobenzone	decreases expression	1
microcystin RR	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
2,2’,4,4’,5-brominated diphenyl ether	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
incobotulinumtoxinA	decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1

Clinical trials (associated diseases)

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