CCDC166

Summary

CCDC166 (coiled-coil domain containing 166, HGNC:41910) is a protein-coding gene on chromosome 8q24.3, encoding Coiled-coil domain-containing protein 166 (P0CW27).

At a glance

• Clinical variants (ClinVar): 85 total
• MANE Select transcript: NM_001162914

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:41910
Approved symbol	CCDC166
Name	coiled-coil domain containing 166
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000255181
Ensembl biotype	protein_coding
Entrez	100130274

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000542437

RefSeq mRNA: 1 — MANE Select: NM_001162914 NM_001162914

CCDS: CCDS55280

Canonical transcript exons

ENST00000533508 — 0 exons

Expression profiles

Bgee: expression breadth broad, 13 present calls, max score 61.71.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	61.71	gold quality
right testis	UBERON:0004534	61.27	gold quality
testis	UBERON:0000473	60.11	gold quality
prefrontal cortex	UBERON:0000451	40.31	silver quality
ganglionic eminence	UBERON:0004023	39.53	silver quality
Brodmann (1909) area 9	UBERON:0013540	39.38	silver quality
lower esophagus mucosa	UBERON:0035834	38.11	gold quality
frontal cortex	UBERON:0001870	37.43	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	36.86	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
granulocyte	CL:0000094	36.25	gold quality
primary visual cortex	UBERON:0002436	36.23	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
cerebral cortex	UBERON:0000956	35.10	silver quality
mucosa of transverse colon	UBERON:0004991	34.80	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
tonsil	UBERON:0002372	31.38	gold quality
skin of abdomen	UBERON:0001416	31.28	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	30.60	gold quality
spleen	UBERON:0002106	30.18	gold quality
lymph node	UBERON:0000029	30.07	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
urinary bladder	UBERON:0001255	29.43	gold quality
skin of leg	UBERON:0001511	29.37	gold quality
right uterine tube	UBERON:0001302	29.14	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Ccdc166	ENSRNOG00000047521

Paralogs (1): BBOF1 (ENSG00000119636)

Protein

Protein identifiers

Coiled-coil domain-containing protein 166 — P0CW27 (reviewed: P0CW27)

All UniProt accessions (1): P0CW27

RefSeq proteins (1): NP_001156386* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032777	DUF4515	Domain

Pfam: PF14988

UniProt features (9 total): compositionally biased region 4, region of interest 2, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0CW27-F1	73.10	0.49

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 5 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, chr8q24, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_UP, GSE40274_FOXP3_VS_FOXP3_AND_HELIOS_TRANSDUCED_ACTIVATED_CD4_TCELL_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC166	CRACDL	Q6NV74	507
CCDC166	ABTB3	A6QL63	447
CCDC166	MEIG1	Q5JSS6	447
CCDC166	FOXI2	Q6ZQN5	415
CCDC166	ZNF704	Q6ZNC4	410
CCDC166	IRF2BP1	Q8IU81	399
CCDC166	NOM1	Q5C9Z4	398
CCDC166	PCDHGB7	Q9Y5F8	397
CCDC166	NUPR2	A6NF83	397
CCDC166	SLC35F1	Q5T1Q4	392
CCDC166	EPS8L1	Q8TE68	378
CCDC166	ECHDC2	Q86YB7	376
CCDC166	MICU3	Q86XE3	374
CCDC166	SLC2A7	Q6PXP3	370
CCDC166	UNC80	Q8N2C7	370

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A1A5D9, A1L3T7, A4FV37, A6NC98, A6NJZ7, A6NNM3, O15049, P0C7N4, P0CW27, P58660, Q0P5D1, Q1HGE8, Q2NL23, Q3LUD3, Q3UPH7, Q494R4, Q4QRL3, Q5JYT7, Q5ND29, Q5XIS1, Q64697, Q6QZQ4, Q6UXH0, Q6ZS72, Q7Z6P3, Q8BLS7, Q8C2K5, Q8C7U1, Q8CB62, Q8CB87, Q8CHW5, Q8N137, Q8R1L8, Q8TE77, Q8TER5, Q91VJ2, Q969G5, Q96EN9, Q96FF7, Q96LX7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

223 predictions. Top by Δscore:

Variant	Effect	Δscore
8:143707660:A:AC	donor_gain	1.0000
8:143707661:C:CC	donor_gain	1.0000
8:143707661:CTGG:C	donor_gain	0.9900
8:143707570:C:CA	acceptor_loss	0.9600
8:143707571:T:A	acceptor_loss	0.9600
8:143707570:C:CC	acceptor_gain	0.9200
8:143707572:G:C	acceptor_loss	0.8600
8:143707876:G:C	donor_gain	0.8500
8:143707872:CGTAG:C	donor_gain	0.8300
8:143707567:CAC:C	acceptor_gain	0.8200
8:143707568:AC:A	acceptor_gain	0.8000
8:143707569:CC:C	acceptor_gain	0.8000
8:143707565:AGCAC:A	acceptor_gain	0.7700
8:143707661:CTG:C	donor_gain	0.7200
8:143707692:G:A	donor_gain	0.7200
8:143707566:GCAC:G	acceptor_gain	0.7000
8:143707567:CACC:C	acceptor_gain	0.7000
8:143707570:C:A	acceptor_gain	0.7000
8:143707574:G:T	acceptor_gain	0.6900
8:143707566:GCACC:G	acceptor_gain	0.6800
8:143707718:T:TA	donor_gain	0.6700
8:143707588:CAGCT:C	acceptor_loss	0.6600
8:143707568:ACCTG:A	acceptor_gain	0.6500
8:143707569:CCTGC:C	acceptor_gain	0.6500
8:143707639:ACC:A	donor_gain	0.6500
8:143707640:CCC:C	donor_gain	0.6500
8:143707682:TCTTG:T	donor_gain	0.6500
8:143707683:CTTGC:C	donor_gain	0.6500
8:143707684:TTG:T	donor_gain	0.6500
8:143707685:TGC:T	donor_gain	0.6500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001540393 (8:143708054 G>A,C,T), RS1001874220 (8:143706515 C>T), RS1002540127 (8:143709168 C>A,T), RS1003158765 (8:143708875 C>A), RS1005566324 (8:143706851 G>A,C), RS1006078009 (8:143707456 G>A), RS1006578805 (8:143708463 C>G), RS1006629254 (8:143708635 C>G), RS1008919780 (8:143709508 A>C,T), RS1008968678 (8:143709776 A>G), RS1009800984 (8:143706581 T>C,G), RS10100154 (8:143708956 A>G,T), RS1010265492 (8:143706765 G>A,T), RS1010850286 (8:143708345 C>T), RS1011214877 (8:143708101 G>C,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1
perfluorooctanoic acid	increases expression	1
perfluorohexanesulfonic acid	increases expression	1
Benzo(a)pyrene	increases methylation	1
Diethylhexyl Phthalate	increases expression	1
Endosulfan	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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