CCDC57

Summary

CCDC57 (coiled-coil domain containing 57, HGNC:27564) is a protein-coding gene on chromosome 17q25.3, encoding Coiled-coil domain-containing protein 57 (Q2TAC2). Pleiotropic regulator of centriole duplication, mitosis, and ciliogenesis.

Involved in several processes, including G2/M transition of mitotic cell cycle; cilium assembly; and microtubule cytoskeleton organization. Located in centriolar satellite; centriole; and spindle microtubule.

Source: NCBI Gene 284001 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 172 total
• MANE Select transcript: NM_001394669

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27564
Approved symbol	CCDC57
Name	coiled-coil domain containing 57
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00130, FLJ23754
Ensembl gene	ENSG00000176155
Ensembl biotype	protein_coding
Entrez	284001

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 13 protein_coding, 7 protein_coding_CDS_not_defined, 4 retained_intron, 3 nonsense_mediated_decay

ENST00000327026, ENST00000389641, ENST00000392343, ENST00000392345, ENST00000392346, ENST00000419322, ENST00000475635, ENST00000483145, ENST00000577530, ENST00000578187, ENST00000578910, ENST00000581625, ENST00000582040, ENST00000582100, ENST00000582885, ENST00000583053, ENST00000583593, ENST00000584717, ENST00000665763, ENST00000694881, ENST00000694882, ENST00000875325, ENST00000875326, ENST00000875327, ENST00000949584, ENST00000949585, ENST00000949586

RefSeq mRNA: 5 — MANE Select: NM_001394669 NM_001316321, NM_001367828, NM_001394669, NM_001394670, NM_198082

CCDS: CCDS11803, CCDS92419, CCDS92420

Canonical transcript exons

ENST00000694881 — 19 exons

Exon	Start	End
ENSE00001663840	82151560	82151773
ENSE00002218210	82201538	82201952
ENSE00002230903	82198314	82198422
ENSE00002255911	82179027	82179189
ENSE00002271850	82101470	82101866
ENSE00002295845	82188219	82188419
ENSE00002882564	82157748	82157948
ENSE00003472688	82163200	82163357
ENSE00003502044	82193756	82193830
ENSE00003526148	82183774	82183932
ENSE00003526174	82171701	82171853
ENSE00003533625	82128493	82128597
ENSE00003536362	82193982	82194139
ENSE00003555469	82172638	82172860
ENSE00003566918	82178474	82178605
ENSE00003643868	82195263	82195364
ENSE00003963220	82212785	82212842
ENSE00003963347	82134073	82134194
ENSE00003963358	82127692	82127908

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 98.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5863 / max 275.0111, expressed in 1744 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168941	7.9178	1689
168924	2.7047	685
168923	1.3702	409
168933	0.2083	44
168925	0.1482	53
168939	0.1459	27
168932	0.0439	20
168931	0.0278	15
168920	0.0133	3
168934	0.0044	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.43	gold quality
adenohypophysis	UBERON:0002196	96.97	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.52	gold quality
right lobe of thyroid gland	UBERON:0001119	96.14	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.02	gold quality
sural nerve	UBERON:0015488	95.81	gold quality
left lobe of thyroid gland	UBERON:0001120	95.77	gold quality
left testis	UBERON:0004533	95.73	gold quality
right testis	UBERON:0004534	95.70	gold quality
metanephros cortex	UBERON:0010533	95.44	gold quality
cerebellar hemisphere	UBERON:0002245	95.43	gold quality
cerebellar cortex	UBERON:0002129	95.23	gold quality
granulocyte	CL:0000094	95.10	gold quality
pituitary gland	UBERON:0000007	94.54	gold quality
thyroid gland	UBERON:0002046	94.18	gold quality
right frontal lobe	UBERON:0002810	93.93	gold quality
right lobe of liver	UBERON:0001114	93.45	gold quality
body of stomach	UBERON:0001161	93.43	gold quality
minor salivary gland	UBERON:0001830	93.40	gold quality
endocervix	UBERON:0000458	93.29	gold quality
left uterine tube	UBERON:0001303	93.24	gold quality
body of uterus	UBERON:0009853	93.22	gold quality
upper lobe of left lung	UBERON:0008952	93.18	gold quality
right ovary	UBERON:0002118	93.17	gold quality
left ovary	UBERON:0002119	92.99	gold quality
right lung	UBERON:0002167	92.50	gold quality
body of pancreas	UBERON:0001150	92.43	gold quality
cerebellum	UBERON:0002037	92.29	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.26	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.06	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.52
E-CURD-135	no	616.19
E-MTAB-7303	no	82.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

3 targeting CCDC57, 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-4441	99.49	66.56	3216
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-3619-5P	99.00	68.87	2308

Literature-anchored findings (GeneRIF, showing 1)

• CCDC57 Cooperates with Microtubules and Microcephaly Protein CEP63 and Regulates Centriole Duplication and Mitotic Progression. (PMID:32402286)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc57	ENSMUSG00000048445
rattus_norvegicus	Ccdc57	ENSRNOG00000047531
caenorhabditis_elegans		WBGENE00015188

Paralogs (2): CIP2A (ENSG00000163507), CCHCR1 (ENSG00000204536)

Protein

Protein identifiers

Coiled-coil domain-containing protein 57 — Q2TAC2 (reviewed: Q2TAC2)

All UniProt accessions (8): Q2TAC2, A0A590UJT6, A0A8Q3SHK3, H7BYI8, J3KRQ8, J3KSU5, J3QQX7, K7N7D6

UniProt curated annotations — full annotation on UniProt →

Function. Pleiotropic regulator of centriole duplication, mitosis, and ciliogenesis. Critical interface between centrosome and microtubule-mediated cellular processes. Centriole duplication protein required for recruitment of CEP63, CEP152, and PLK4 to the centrosome. Independent of its centrosomal targeting, localizes to and interacts with microtubules and regulates microtubule nucleation, stability, and mitotic progression.

Subunit / interactions. Interacts with CEP63; the interaction is required for their location to proximal end of centrioles. Interacts with microtubules.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q2TAC2-1	1	yes
Q2TAC2-2	2

RefSeq proteins (5): NP_001303250, NP_001354757, NP_001381598, NP_001381599, NP_932348 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR042481	CCDC57	Family

UniProt features (28 total): sequence variant 8, compositionally biased region 7, region of interest 5, coiled-coil region 4, splice variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2TAC2-F1	71.77	0.44

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_MICROTUBULE_NUCLEATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CENTRIOLE_ASSEMBLY, GOBP_CILIUM_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, GOBP_MITOTIC_CELL_CYCLE, GOBP_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_CELL_PROJECTION_ORGANIZATION, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_CENTROSOME_DUPLICATION, GOBP_MICROTUBULE_POLYMERIZATION

GO Biological Process (5): G2/M transition of mitotic cell cycle (GO:0000086), microtubule nucleation (GO:0007020), centriole replication (GO:0007099), positive regulation of mitotic cell cycle (GO:0045931), cilium assembly (GO:0060271)

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

GO Cellular Component (7): centrosome (GO:0005813), centriole (GO:0005814), spindle microtubule (GO:0005876), centriolar satellite (GO:0034451), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	3
mitotic cell cycle	2
microtubule organizing center	2
cellular anatomical structure	2
mitotic cell cycle phase transition	1
cell cycle G2/M phase transition	1
microtubule cytoskeleton organization	1
microtubule polymerization	1
cell cycle process	1
centrosome duplication	1
centriole assembly	1
regulation of mitotic cell cycle	1
positive regulation of cell cycle	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
binding	1
centriole	1
spindle	1
microtubule	1
centrosome	1
intracellular anatomical structure	1
microtubule cytoskeleton	1

Protein interactions and networks

STRING

920 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC57	AMZ1	Q400G9	521
CCDC57	ZNF251	Q9BRH9	499
CCDC57	FASTKD3	Q14CZ7	491
CCDC57	NKAIN4	Q8IVV8	474
CCDC57	OR6T1	Q8NGN1	462
CCDC57	STK31	Q9BXU1	462
CCDC57	RDM1	Q8NG50	460
CCDC57	FAM111A	Q96PZ2	454
CCDC57	PEAK3	Q6ZS72	447
CCDC57	CMYA5	Q8N3K9	444
CCDC57	DNAJC12	Q9UKB3	443
CCDC57	DMRT3	Q9NQL9	438
CCDC57	BSND	Q8WZ55	438
CCDC57	MESP2	Q0VG99	433
CCDC57	FREM2	Q5SZK8	429

IntAct

137 interactions, top by confidence:

A	B	Type	Score
CWF19L2	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	PRPF31	psi-mi:“MI:0915”(physical association)	0.560
ZFC3H1	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	USP2	psi-mi:“MI:0915”(physical association)	0.560
NELFE	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
AQP1	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
PTPN7	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
ARL4A	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
MFAP1	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
HBA1	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
PRR3	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
UTP14C	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	NUMA1	psi-mi:“MI:0915”(physical association)	0.560
CCDC57		psi-mi:“MI:0915”(physical association)	0.560
CCDC57	TLE5	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	CEP57L1	psi-mi:“MI:0915”(physical association)	0.560
	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	FAM161A	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	TSGA10IP	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	PPP1R18	psi-mi:“MI:0915”(physical association)	0.560
NAPRT	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
CDC20B	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	FAM90A1	psi-mi:“MI:0915”(physical association)	0.560
ZGPAT	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
PPHLN1	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
ZNF417	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	RAB3IL1	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	GPKOW	psi-mi:“MI:0915”(physical association)	0.560
LENG1	CCDC57	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (192): CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid), CCDC57 (Two-hybrid)

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370

Diamond homologs: Q2TAC2, Q6PHN1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 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
mRNA Splicing - Major Pathway	6	10.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	134
Likely benign	21
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5537 predictions. Top by Δscore:

Variant	Effect	Δscore
17:82157789:T:TA	donor_gain	1.0000
17:82163256:T:TA	donor_gain	1.0000
17:82171695:ACTT:A	donor_loss	1.0000
17:82171696:CTTA:C	donor_loss	1.0000
17:82171697:TTACC:T	donor_loss	1.0000
17:82171699:A:AC	donor_gain	1.0000
17:82171699:A:AG	donor_loss	1.0000
17:82171700:C:CC	donor_gain	1.0000
17:82171700:C:T	donor_loss	1.0000
17:82171700:CCAGT:C	donor_gain	1.0000
17:82171850:TAAT:T	acceptor_gain	1.0000
17:82171851:AAT:A	acceptor_gain	1.0000
17:82171851:AATC:A	acceptor_loss	1.0000
17:82171852:AT:A	acceptor_gain	1.0000
17:82171852:ATCT:A	acceptor_loss	1.0000
17:82171853:TC:T	acceptor_loss	1.0000
17:82171854:C:CC	acceptor_gain	1.0000
17:82171854:CTGC:C	acceptor_loss	1.0000
17:82172632:A:AC	donor_gain	1.0000
17:82172632:ACT:A	donor_gain	1.0000
17:82172633:C:CT	donor_gain	1.0000
17:82172633:CT:C	donor_gain	1.0000
17:82172633:CTC:C	donor_gain	1.0000
17:82172633:CTCA:C	donor_gain	1.0000
17:82172856:AGCAT:A	acceptor_gain	1.0000
17:82172858:CAT:C	acceptor_gain	1.0000
17:82172860:TC:T	acceptor_loss	1.0000
17:82172862:T:A	acceptor_loss	1.0000
17:82178508:AGGG:A	donor_gain	1.0000
17:82179046:AGAC:A	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000016709 (17:82137014 T>C), RS1000059722 (17:82179502 G>A), RS1000074367 (17:82137415 A>G), RS1000097916 (17:82149337 G>A,C), RS1000155045 (17:82193472 G>A), RS1000190813 (17:82157654 G>C), RS1000251563 (17:82177425 G>C), RS1000259752 (17:82184936 G>T), RS1000262458 (17:82182391 T>C), RS1000296509 (17:82116774 C>A), RS1000300089 (17:82152857 T>A), RS1000326371 (17:82163450 C>T), RS1000334381 (17:82194605 C>T), RS1000420991 (17:82118226 A>C), RS1000521871 (17:82116612 G>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

3 associations (top):

Study	Trait	p-value
GCST003141_5	Proteinuria and chronic kidney disease	6.000000e-06
GCST008062_23	Blood urea nitrogen levels	2.000000e-10
GCST010002_133	Refractive error	2.000000e-50

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Arsenic	decreases methylation, affects methylation	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
bisphenol A	affects cotreatment, increases methylation	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
Sunitinib	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Diazinon	increases methylation	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	increases expression	1
Methylcholanthrene	affects binding, increases reaction	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	affects methylation	1
Acrylamide	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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