CCDC17

Summary

CCDC17 (coiled-coil domain containing 17, HGNC:26574) is a protein-coding gene on chromosome 1p34.1, encoding Coiled-coil domain-containing protein 17 (Q96LX7).

Implicated in colorectal adenocarcinoma.

Source: NCBI Gene 149483 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 137 total
• MANE Select transcript: NM_001114938

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26574
Approved symbol	CCDC17
Name	coiled-coil domain containing 17
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ33084
Ensembl gene	ENSG00000159588
Ensembl biotype	protein_coding
Entrez	149483

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000372044, ENST00000421127, ENST00000445048, ENST00000464739, ENST00000479529, ENST00000482416, ENST00000491755, ENST00000525599, ENST00000528266, ENST00000865268, ENST00000865269, ENST00000865270, ENST00000865271

RefSeq mRNA: 2 — MANE Select: NM_001114938 NM_001114938, NM_001190182

CCDS: CCDS44131, CCDS53314

Canonical transcript exons

ENST00000528266 — 13 exons

Exon	Start	End
ENSE00001064988	45623217	45623439
ENSE00001687587	45623557	45623652
ENSE00002158280	45620044	45620433
ENSE00003476098	45622751	45622834
ENSE00003556952	45621877	45621995
ENSE00003581538	45620723	45620833
ENSE00003611925	45621281	45621484
ENSE00003624502	45622549	45622667
ENSE00003633118	45620903	45621113
ENSE00003647139	45622955	45623117
ENSE00003689373	45621638	45621735
ENSE00003691528	45622241	45622348
ENSE00003843908	45623736	45624054

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 99.53.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1706 / max 43.7622, expressed in 36 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12143	0.1484	36
12142	0.0223	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.53	gold quality
bronchial epithelial cell	CL:0002328	98.72	gold quality
bronchus	UBERON:0002185	97.87	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.73	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.64	gold quality
oviduct epithelium	UBERON:0004804	92.97	gold quality
nasal cavity epithelium	UBERON:0005384	91.37	gold quality
fallopian tube	UBERON:0003889	90.33	gold quality
right lung	UBERON:0002167	81.14	gold quality
left uterine tube	UBERON:0001303	81.01	gold quality
trachea	UBERON:0003126	80.40	gold quality
epithelium of nasopharynx	UBERON:0001951	80.28	gold quality
lower esophagus mucosa	UBERON:0035834	79.98	gold quality
nasal cavity mucosa	UBERON:0001826	79.17	gold quality
ileal mucosa	UBERON:0000331	77.69	silver quality
caput epididymis	UBERON:0004358	77.48	gold quality
endocervix	UBERON:0000458	77.08	gold quality
right lobe of liver	UBERON:0001114	76.69	gold quality
mucosa of transverse colon	UBERON:0004991	74.53	gold quality
upper lobe of left lung	UBERON:0008952	74.27	gold quality
tibialis anterior	UBERON:0001385	73.81	silver quality
gastrocnemius	UBERON:0001388	73.74	gold quality
kidney epithelium	UBERON:0004819	73.36	gold quality
granulocyte	CL:0000094	73.12	gold quality
muscle of leg	UBERON:0001383	72.76	gold quality
upper lobe of lung	UBERON:0008948	72.19	gold quality
hindlimb stylopod muscle	UBERON:0004252	71.98	gold quality
apex of heart	UBERON:0002098	71.53	gold quality
pancreatic ductal cell	CL:0002079	71.37	silver quality
blood	UBERON:0000178	71.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-114	yes	558.13
E-HCAD-1	yes	25.80
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc17	ENSMUSG00000034035
rattus_norvegicus	Ccdc17	ENSRNOG00000023216

Protein

Protein identifiers

Coiled-coil domain-containing protein 17 — Q96LX7 (reviewed: Q96LX7)

All UniProt accessions (3): Q96LX7, F2Z395, F8W7G4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell projection. Cilium. Cytoplasm. Cytoskeleton. Cilium axoneme.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96LX7-4	1	yes
Q96LX7-5	2
Q96LX7-2	3
Q96LX7-3	4

RefSeq proteins (2): NP_001108410, NP_001177111 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038800	CCDC17	Family

UniProt features (23 total): sequence conflict 8, sequence variant 4, splice variant 3, coiled-coil region 3, region of interest 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LX7-F1	68.58	0.28

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 41 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, chr1p34, GOCC_CYTOPLASMIC_REGION, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MEISSNER_NPC_HCP_WITH_H3K4ME2, SETD7_TARGET_GENES, ZNF708_TARGET_GENES, GSE13229_IMM_VS_MATURE_NKCELL_DN, BLANCO_MELO_MERS_COV_INFECTION_MCR5_CELLS_UP, GSE15750_WT_VS_TRAF6KO_DAY6_EFF_CD8_TCELL_UP, MANNO_MIDBRAIN_NEUROTYPES_HPERIC, MANNO_MIDBRAIN_NEUROTYPES_HMGL, MANNO_MIDBRAIN_NEUROTYPES_HRGL2B, MANNO_MIDBRAIN_NEUROTYPES_HRGL2A

GO Biological Process (0):

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

GO Cellular Component (2): cilium (GO:0005929), axoneme (GO:0005930)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1224 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC17	ZNF684	Q5T5D7	628
CCDC17	PHETA1	Q8N4B1	541
CCDC17	CFAP210	Q0VFZ6	533
CCDC17	CFAP77	Q6ZQR2	507
CCDC17	GPBP1L1	Q9HC44	456
CCDC17	SPACA9	Q96E40	447
CCDC17	CFAP61	Q8NHU2	410
CCDC17	HIVEP1	P15822	400
CCDC17	BRINP3	Q76B58	395
CCDC17	AKR1A1	P14550	388
CCDC17	ERICH3	Q5RHP9	384
CCDC17	CCDC181	Q5TID7	359
CCDC17	RNF167	Q9H6Y7	357
CCDC17	ANKRA2	Q9H9E1	355
CCDC17	ERGIC2	Q96RQ1	349

IntAct

12 interactions, top by confidence:

A	B	Type	Score
GOLGA2	CCDC17	psi-mi:“MI:0915”(physical association)	0.560
KRT31	CCDC17	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	CCDC17	psi-mi:“MI:0915”(physical association)	0.560
CCDC17	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
CCDC17	KRT31	psi-mi:“MI:0915”(physical association)	0.560
CCDC17	MTUS2	psi-mi:“MI:0915”(physical association)	0.560
purT	CCDC17	psi-mi:“MI:0915”(physical association)	0.000
FGFR3	CCDC17	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): CCDC17 (Two-hybrid), CCDC17 (Two-hybrid), CCDC17 (Two-hybrid), CCDC17 (Two-hybrid), CCDC17 (Two-hybrid), CCDC17 (Two-hybrid), KRTAP8-1 (Two-hybrid), KRT16 (Two-hybrid), KRTAP6-2 (Two-hybrid), KRTAP19-5 (Two-hybrid), CCDC17 (Two-hybrid), CCDC17 (Protein-peptide), CCDC17 (Affinity Capture-MS), CCDC17 (Protein-peptide)

ESM2 similar proteins: A1L3T7, D4A929, O15049, O94812, P0C7N4, P58660, P97680, Q17Q97, Q1LU99, Q3LUD3, Q3UPH7, Q3UYR4, Q400C9, Q4FZU8, Q562E7, Q571B6, Q58EX7, Q5EB20, Q5JYT7, Q5ND29, Q5ND34, Q5PQS0, Q5XIS1, Q68FE6, Q6PGG2, Q6ZQ12, Q6ZVH7, Q7TNF8, Q7TSI1, Q7Z3H0, Q80U16, Q8BWG4, Q8BXP5, Q8BYG0, Q8C7U1, Q8CB62, Q8CE13, Q8K1S6, Q8K330, Q8N137

Diamond homologs: Q8CE13, Q96LX7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	115
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1660 predictions. Top by Δscore:

Variant	Effect	Δscore
1:45621878:T:TA	donor_gain	1.0000
1:45623229:G:C	donor_gain	1.0000
1:45620431:CAC:C	acceptor_gain	0.9900
1:45620433:CCTGT:C	acceptor_loss	0.9900
1:45620434:C:T	acceptor_loss	0.9900
1:45620435:T:A	acceptor_loss	0.9900
1:45620704:G:C	donor_gain	0.9900
1:45620736:TGG:T	donor_gain	0.9900
1:45620743:CATGG:C	donor_gain	0.9900
1:45620744:A:AC	donor_gain	0.9900
1:45620744:ATGGA:A	donor_gain	0.9900
1:45620754:G:A	donor_gain	0.9900
1:45621382:T:TA	donor_gain	0.9900
1:45621874:AACCT:A	donor_gain	0.9900
1:45621875:A:C	donor_gain	0.9900
1:45621882:AGAAG:A	donor_gain	0.9900
1:45621912:C:CT	donor_gain	0.9900
1:45621913:C:CT	donor_gain	0.9900
1:45621947:C:A	donor_gain	0.9900
1:45622539:T:TA	donor_gain	0.9900
1:45622853:C:CT	acceptor_gain	0.9900
1:45622953:AC:A	donor_gain	0.9900
1:45622954:CC:C	donor_gain	0.9900
1:45623027:G:C	donor_gain	0.9900
1:45623252:T:TA	donor_gain	0.9900
1:45620734:A:AC	donor_gain	0.9800
1:45620735:C:CC	donor_gain	0.9800
1:45620735:CTG:C	donor_gain	0.9800
1:45621579:C:CA	donor_gain	0.9800
1:45621583:TA:T	donor_gain	0.9800

AlphaMissense

3924 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:45623850:G:C	F20L	0.982
1:45623850:G:T	F20L	0.982
1:45623852:A:G	F20L	0.982
1:45621005:A:C	F499L	0.980
1:45621005:A:T	F499L	0.980
1:45621007:A:G	F499L	0.980
1:45621461:T:A	D403V	0.979
1:45621461:T:G	D403A	0.974
1:45621462:C:G	D403H	0.972
1:45620740:A:G	Y565H	0.971
1:45620813:A:C	F540L	0.969
1:45620813:A:T	F540L	0.969
1:45620815:A:G	F540L	0.969
1:45623851:A:G	F20S	0.967
1:45621461:T:C	D403G	0.966
1:45621466:G:C	F401L	0.965
1:45621466:G:T	F401L	0.965
1:45621468:A:G	F401L	0.965
1:45621455:A:G	L405P	0.964
1:45621460:A:C	D403E	0.961
1:45621460:A:T	D403E	0.961
1:45621311:G:T	A453D	0.960
1:45621457:G:C	F404L	0.960
1:45621457:G:T	F404L	0.960
1:45621459:A:G	F404L	0.960
1:45620817:A:T	L539H	0.959
1:45621462:C:A	D403Y	0.958
1:45620974:A:G	W510R	0.954
1:45620974:A:T	W510R	0.954
1:45621006:A:C	F499C	0.951

dbSNP variants (sampled 300 via entrez): RS1001030214 (1:45624752 G>A,C), RS1001558243 (1:45622527 G>C), RS1001630531 (1:45622300 T>A), RS1002172613 (1:45624973 T>A,C,G), RS1002360319 (1:45619785 G>A), RS1002369153 (1:45625242 C>G,T), RS1003207074 (1:45619567 C>T), RS1003682234 (1:45622694 T>A,C), RS1003868041 (1:45624375 G>A), RS1004632363 (1:45621487 G>C), RS1005676738 (1:45625284 T>C), RS1005726102 (1:45624021 C>A,T), RS1005764293 (1:45620117 C>T), RS1006680714 (1:45622579 G>A), RS1006879129 (1:45620682 A>G)

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

15 associations (top):

Study	Trait	p-value
GCST004571_30	Iron status biomarkers (total iron binding capacity)	8.000000e-07
GCST004572_19	Iron status biomarkers (transferrin saturation)	8.000000e-07
GCST004604_13	Hematocrit	3.000000e-14
GCST005951_37	Body mass index	8.000000e-10
GCST008839_147	Height	2.000000e-13
GCST010241_256	Apolipoprotein A1 levels	5.000000e-08
GCST010696_7	Cortical thickness (min-P)	3.000000e-08
GCST010697_28	Cortical surface area (min-P)	2.000000e-08
GCST010698_30	Subcortical volume (min-P)	3.000000e-08
GCST010699_45	Brain morphology (min-P)	3.000000e-08
GCST010700_23	Cortical thickness (MOSTest)	1.000000e-10
GCST010701_9	Cortical surface area (MOSTest)	2.000000e-08
GCST010702_139	Subcortical volume (MOSTest)	4.000000e-14
GCST010703_258	Brain morphology (MOSTest)	2.000000e-13
GCST012442_1	Age-related hearing impairment	1.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006334	total iron binding capacity
EFO:0004348	hematocrit
EFO:0004340	body mass index
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases expression, increases methylation	3
Air Pollutants	increases abundance, increases expression, affects expression	2
Benzo(a)pyrene	affects methylation	2
Smoke	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
bufotalin	increases expression	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
clothianidin	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Amiodarone	increases expression	1
Atrazine	increases expression	1
Methapyrilene	increases methylation	1
Ozone	increases abundance, affects expression	1
Quercetin	increases expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Okadaic Acid	decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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