CCDC77

Summary

CCDC77 (coiled-coil domain containing 77, HGNC:28203) is a protein-coding gene on chromosome 12p13.33, encoding Coiled-coil domain-containing protein 77 (Q9BR77).

Located in centrosome.

Source: NCBI Gene 84318 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 89 total
• MANE Select transcript: NM_032358

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28203
Approved symbol	CCDC77
Name	coiled-coil domain containing 77
Location	12p13.33
Locus type	gene with protein product
Status	Approved
Aliases	MGC13183
Ensembl gene	ENSG00000120647
Ensembl biotype	protein_coding
Entrez	84318

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 19 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000239830, ENST00000412006, ENST00000422000, ENST00000535052, ENST00000535959, ENST00000537286, ENST00000537453, ENST00000538160, ENST00000540118, ENST00000540180, ENST00000540344, ENST00000543504, ENST00000895665, ENST00000895666, ENST00000895667, ENST00000895668, ENST00000936258, ENST00000936259, ENST00000936260, ENST00000936261, ENST00000936262, ENST00000936263, ENST00000947130, ENST00000947131, ENST00000947132

RefSeq mRNA: 4 — MANE Select: NM_032358 NM_001130146, NM_001130147, NM_001130148, NM_032358

CCDS: CCDS44781, CCDS8503

Canonical transcript exons

ENST00000239830 — 13 exons

Exon	Start	End
ENSE00000816760	438335	438554
ENSE00000816761	440617	440742
ENSE00000816762	440844	440996
ENSE00001351131	405511	405564
ENSE00001419464	401644	401684
ENSE00002273034	441774	442642
ENSE00003484663	418494	418636
ENSE00003485827	409368	409421
ENSE00003529152	428769	428865
ENSE00003544983	433174	433322
ENSE00003589057	431866	431954
ENSE00003619580	411747	411978
ENSE00003673085	430664	430736

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 94.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.0072 / max 230.9802, expressed in 1712 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123299	3.7909	1158
123296	2.7972	1408
123297	0.7972	462
123298	0.6219	352

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	94.08	gold quality
secondary oocyte	CL:0000655	92.58	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.53	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.03	gold quality
calcaneal tendon	UBERON:0003701	88.66	gold quality
sural nerve	UBERON:0015488	88.50	gold quality
ganglionic eminence	UBERON:0004023	87.02	gold quality
embryo	UBERON:0000922	87.01	gold quality
ventricular zone	UBERON:0003053	86.41	gold quality
left testis	UBERON:0004533	84.86	gold quality
right testis	UBERON:0004534	84.22	gold quality
cortical plate	UBERON:0005343	83.98	gold quality
testis	UBERON:0000473	83.71	gold quality
granulocyte	CL:0000094	82.91	gold quality
leukocyte	CL:0000738	81.54	gold quality
monocyte	CL:0000576	81.50	gold quality
adrenal tissue	UBERON:0018303	81.48	gold quality
right adrenal gland cortex	UBERON:0035827	81.22	gold quality
right adrenal gland	UBERON:0001233	81.21	gold quality
tendon	UBERON:0000043	81.11	gold quality
left adrenal gland	UBERON:0001234	80.49	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.40	gold quality
left adrenal gland cortex	UBERON:0035825	79.87	gold quality
adrenal gland	UBERON:0002369	79.74	gold quality
vermiform appendix	UBERON:0001154	79.67	gold quality
skin of abdomen	UBERON:0001416	79.29	gold quality
stromal cell of endometrium	CL:0002255	79.23	gold quality
bone marrow cell	CL:0002092	79.17	gold quality
colonic epithelium	UBERON:0000397	79.17	gold quality
gastrocnemius	UBERON:0001388	78.65	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.56
E-CURD-10	no	108.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting CCDC77, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-8077	99.17	66.67	862
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-6876-3P	98.97	65.69	765
HSA-MIR-626	98.89	66.21	762
HSA-MIR-4501	98.72	67.19	921
HSA-MIR-3691-3P	97.90	65.97	791
HSA-MIR-6787-3P	97.75	66.17	1233
HSA-MIR-6890-3P	97.50	65.71	997
HSA-MIR-203B-5P	97.24	68.54	543
HSA-MIR-6718-5P	97.24	68.15	553
HSA-MIR-134-5P	97.11	66.52	976
HSA-MIR-3118	97.11	66.58	984
HSA-MIR-6759-3P	96.94	68.31	823
HSA-MIR-6729-3P	96.91	66.79	703
HSA-MIR-8081	96.42	67.75	738
HSA-MIR-339-3P	94.34	67.96	97
HSA-MIR-184	94.24	64.40	152

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc77	ENSDARG00000102145
mus_musculus	Ccdc77	ENSMUSG00000030177
rattus_norvegicus	Ccdc77	ENSRNOG00000037206

Protein

Protein identifiers

Coiled-coil domain-containing protein 77 — Q9BR77 (reviewed: Q9BR77)

All UniProt accessions (3): Q9BR77, F5H0W5, F5H5Q8

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BR77-1	1	yes
Q9BR77-2	2

RefSeq proteins (4): NP_001123618, NP_001123619, NP_001123620, NP_115734* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037696	CCDC77	Family

UniProt features (10 total): region of interest 2, coiled-coil region 2, sequence variant 2, chain 1, modified residue 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BR77-F1	80.42	0.54

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): 36, 51

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 109 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, WEI_MYCN_TARGETS_WITH_E_BOX, GOCC_CENTROSOME, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_DN, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_UP, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_8D, FORTSCHEGGER_PHF8_TARGETS_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): centrosome (GO:0005813), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
centriole	1
microtubule organizing center	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1217 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC77	J3KS56	J3KS56	606
CCDC77	CCDC150	Q8NCX0	572
CCDC77	CEP15	Q9HBI5	559
CCDC77	CEP85	Q6P2H3	549
CCDC77	TEX52	A6NCN8	542
CCDC77	NEMP1	O14524	530
CCDC77	CCDC34	Q96HJ3	500
CCDC77	GSTCD	Q8NEC7	494
CCDC77	REEP4	Q9H6H4	482
CCDC77	UBALD2	Q8IYN6	477
CCDC77	ZNF367	Q7RTV3	476
CCDC77	DEPDC1B	Q8WUY9	474
CCDC77	RIBC2	Q9H4K1	473
CCDC77	RNF175	Q8N4F7	449
CCDC77	WDR90	Q96KV7	449

IntAct

70 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
LTBR	ZNF724	psi-mi:“MI:0914”(association)	0.530
SYT12	B4GALT5	psi-mi:“MI:0914”(association)	0.530
KIAA0753	OFD1	psi-mi:“MI:2364”(proximity)	0.480
CCDC13	CEP290	psi-mi:“MI:0914”(association)	0.460
CCDC77	DDX46	psi-mi:“MI:0915”(physical association)	0.400
Cep135		psi-mi:“MI:0914”(association)	0.350
Cenpe	BBX	psi-mi:“MI:0914”(association)	0.350
Cep120	TBC1D31	psi-mi:“MI:0914”(association)	0.350
CEP43	CCHCR1	psi-mi:“MI:0914”(association)	0.350
Cep131	WBP2	psi-mi:“MI:0914”(association)	0.350
Cep78	ING5	psi-mi:“MI:0914”(association)	0.350
Cep170	NEURL4	psi-mi:“MI:0914”(association)	0.350
OFD1	CCDC14	psi-mi:“MI:0914”(association)	0.350
PPP2R3C	OFD1	psi-mi:“MI:0914”(association)	0.350
CEP135	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Cep43	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Ankrd26	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Prkacb	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Prkar2a	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Lrrcc1	CCDC14	psi-mi:“MI:0914”(association)	0.350
Cep72	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Cep290		psi-mi:“MI:0914”(association)	0.350
MAPRE1	CTNNB1	psi-mi:“MI:0914”(association)	0.350
CCDC14	TBC1D31	psi-mi:“MI:0914”(association)	0.350
PRKAR2B	SEC16A	psi-mi:“MI:0914”(association)	0.350
NEDD1	ATP5MF-PTCD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (97): CCDC77 (Affinity Capture-MS), CCDC77 (Proximity Label-MS), CCDC77 (Affinity Capture-MS), CCDC77 (Affinity Capture-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS), CCDC77 (Proximity Label-MS)

ESM2 similar proteins: A0JMQ7, A0JMY4, A2AUM9, A2BDR7, A2BGP7, A6NI79, A6PWD2, A6QNP9, B1AJZ9, D3YV10, G9G127, O35550, O35551, O75330, O94986, P0CB05, Q05D60, Q0VFN8, Q0VFX2, Q15276, Q17QT2, Q3UPP8, Q498G2, Q4KLY0, Q4PJT6, Q4R703, Q4V7B0, Q5JU67, Q5NVN6, Q5U3A8, Q5U3Z6, Q5U4W1, Q5ZL12, Q66KE8, Q6DFC2, Q6DIS8, Q6IMY1, Q6NRC9, Q6P402, Q7M6Y5

Diamond homologs: Q6DFC2, Q9BR77, Q9CZH8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 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	13	50.3×	2e-17
Loss of proteins required for interphase microtubule organization from the centrosome	13	50.3×	2e-17
AURKA Activation by TPX2	13	48.3×	2e-17
Recruitment of mitotic centrosome proteins and complexes	13	43.1×	7e-17
Regulation of PLK1 Activity at G2/M Transition	13	40.2×	1e-16
Anchoring of the basal body to the plasma membrane	14	38.6×	2e-17
Centrosome maturation	6	37.1×	4e-07
Recruitment of NuMA to mitotic centrosomes	13	37.0×	4e-16

GO biological processes:

GO term	Partners	Fold	FDR
non-motile cilium assembly	6	26.8×	3e-05
cilium assembly	10	11.3×	9e-06
cell division	8	5.7×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2526 predictions. Top by Δscore:

Variant	Effect	Δscore
12:409422:G:GG	donor_gain	1.0000
12:411975:ACAG:A	donor_loss	1.0000
12:411976:CAG:C	donor_loss	1.0000
12:411977:AGGT:A	donor_loss	1.0000
12:411978:GGTA:G	donor_loss	1.0000
12:411979:GTAAA:G	donor_loss	1.0000
12:411980:T:G	donor_loss	1.0000
12:428757:T:TA	acceptor_gain	1.0000
12:431859:A:AG	acceptor_gain	1.0000
12:431863:TAGAT:T	acceptor_loss	1.0000
12:431864:A:AG	acceptor_gain	1.0000
12:431864:AGAT:A	acceptor_loss	1.0000
12:431865:G:GT	acceptor_gain	1.0000
12:431865:GA:G	acceptor_gain	1.0000
12:431865:GAT:G	acceptor_gain	1.0000
12:431865:GATC:G	acceptor_gain	1.0000
12:431951:ACAG:A	donor_loss	1.0000
12:431952:CAGGT:C	donor_loss	1.0000
12:431954:GG:G	donor_loss	1.0000
12:431956:T:G	donor_loss	1.0000
12:433319:AAAA:A	donor_gain	1.0000
12:433321:AA:A	donor_gain	1.0000
12:433321:AAGTG:A	donor_loss	1.0000
12:433322:AGTGA:A	donor_loss	1.0000
12:433323:G:GG	donor_gain	1.0000
12:433323:GTGA:G	donor_loss	1.0000
12:433324:T:TG	donor_loss	1.0000
12:433325:GAGTG:G	donor_loss	1.0000
12:433326:AGTG:A	donor_loss	1.0000
12:438333:A:AG	acceptor_gain	1.0000

AlphaMissense

3223 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:418627:T:C	L135P	0.990
12:418588:G:C	R122P	0.988
12:418606:T:C	L128P	0.988
12:418555:T:C	L111P	0.987
12:438337:T:C	L275P	0.984
12:440914:G:C	R413P	0.982
12:440911:G:C	R412P	0.980
12:418576:T:C	L118P	0.979
12:428801:T:C	L149P	0.978
12:418551:G:C	A110P	0.977
12:433184:T:C	L228P	0.974
12:433313:T:C	L271P	0.972
12:438382:T:C	L290P	0.971
12:440696:T:C	L374P	0.971
12:438388:T:C	L292P	0.970
12:438358:T:C	L282P	0.967
12:440890:G:C	R405P	0.967
12:441865:T:C	L471P	0.967
12:438355:T:C	L281P	0.966
12:440968:T:C	L431P	0.966
12:418603:G:C	R127P	0.965
12:433180:G:C	A227P	0.965
12:418624:G:C	R134P	0.963
12:440651:T:C	L359P	0.962
12:440848:G:C	R391P	0.962
12:440931:G:C	G419R	0.961
12:433196:T:C	L232P	0.955
12:438420:T:A	W303R	0.954
12:438420:T:C	W303R	0.954
12:440956:T:C	L427P	0.954

dbSNP variants (sampled 300 via entrez): RS1000011942 (12:427821 C>G), RS1000067097 (12:388903 C>A,T), RS1000132435 (12:389696 T>C), RS1000137550 (12:408503 C>G), RS1000250492 (12:394545 T>C), RS1000359817 (12:437995 A>G), RS1000383282 (12:440039 G>A,C), RS1000527940 (12:407848 C>T), RS1000537905 (12:402984 T>C), RS1000549664 (12:432171 C>T), RS1000591107 (12:393215 A>G), RS1000712852 (12:412402 A>G), RS1000813220 (12:418151 T>C), RS1000860089 (12:435046 G>T), RS1000936405 (12:404979 C>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

7 associations (top):

Study	Trait	p-value
GCST001957_16	Obesity (early onset extreme)	8.000000e-08
GCST005441_9	Alcohol consumption (max-drinks)	7.000000e-06
GCST005951_70	Body mass index	1.000000e-11
GCST006868_8	Type 2 diabetes	3.000000e-08
GCST009391_1915	Metabolite levels	4.000000e-10
GCST010653_18	Thyroid stimulating hormone levels	2.000000e-10
GCST012434_4	Peak height velocity	5.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0010464	beta-aminoisobutyric acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs141213385	CCDC77		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation	3
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Vehicle Emissions	decreases expression, decreases reaction, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	decreases expression, decreases reaction, increases abundance	2
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
bisphenol A	affects cotreatment, increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Azathioprine	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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