CCDC102A

Summary

CCDC102A (coiled-coil domain containing 102A, HGNC:28097) is a protein-coding gene on chromosome 16q21, encoding Coiled-coil domain-containing protein 102A (Q96A19).

Predicted to be part of myosin complex.

Source: NCBI Gene 92922 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 111 total
• MANE Select transcript: NM_033212

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28097
Approved symbol	CCDC102A
Name	coiled-coil domain containing 102A
Location	16q21
Locus type	gene with protein product
Status	Approved
Aliases	MGC10992
Ensembl gene	ENSG00000135736
Ensembl biotype	protein_coding
Entrez	92922

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 retained_intron

ENST00000258214, ENST00000569068, ENST00000870632, ENST00000870633, ENST00000870634, ENST00000870635, ENST00000924057, ENST00000924058, ENST00000924059, ENST00000924060, ENST00000959870, ENST00000959871

RefSeq mRNA: 1 — MANE Select: NM_033212 NM_033212

CCDS: CCDS10784

Canonical transcript exons

ENST00000258214 — 9 exons

Exon	Start	End
ENSE00000921066	57518625	57518741
ENSE00000921067	57521068	57521176
ENSE00000921068	57525901	57526127
ENSE00000921069	57528593	57529324
ENSE00000945401	57518068	57518277
ENSE00000945402	57516293	57516463
ENSE00000945404	57512181	57512870
ENSE00001383275	57536500	57536571
ENSE00003580671	57515341	57515444

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 88.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.6202 / max 27.5011, expressed in 1373 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157533	2.6202	1373

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	88.15	gold quality
descending thoracic aorta	UBERON:0002345	87.31	gold quality
apex of heart	UBERON:0002098	87.30	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.85	gold quality
thoracic aorta	UBERON:0001515	86.85	gold quality
ascending aorta	UBERON:0001496	86.81	gold quality
aorta	UBERON:0000947	85.95	gold quality
popliteal artery	UBERON:0002250	85.54	gold quality
tibial artery	UBERON:0007610	85.53	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.20	gold quality
lower esophagus	UBERON:0013473	85.17	gold quality
left coronary artery	UBERON:0001626	84.65	gold quality
endocervix	UBERON:0000458	84.17	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.07	gold quality
body of uterus	UBERON:0009853	83.82	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.50	gold quality
left uterine tube	UBERON:0001303	83.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.85	gold quality
ectocervix	UBERON:0012249	82.63	gold quality
coronary artery	UBERON:0001621	82.54	gold quality
granulocyte	CL:0000094	82.11	gold quality
mucosa of stomach	UBERON:0001199	82.09	gold quality
right ovary	UBERON:0002118	81.73	gold quality
left ovary	UBERON:0002119	80.15	gold quality
metanephros cortex	UBERON:0010533	80.08	gold quality
stromal cell of endometrium	CL:0002255	79.92	gold quality
lower esophagus mucosa	UBERON:0035834	78.76	gold quality
right atrium auricular region	UBERON:0006631	78.53	gold quality
smooth muscle tissue	UBERON:0001135	78.35	gold quality
esophagus	UBERON:0001043	78.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.91

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting CCDC102A, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-939-3P	98.97	65.07	2347

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc102a	ENSDARG00000003872
mus_musculus	Ccdc102a	ENSMUSG00000063605
rattus_norvegicus	Ccdc102a	ENSRNOG00000025843

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Coiled-coil domain-containing protein 102A — Q96A19 (reviewed: Q96A19)

All UniProt accessions (1): Q96A19

RefSeq proteins (1): NP_149989* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002928	Myosin_tail	Domain

Pfam: PF01576

UniProt features (17 total): region of interest 4, compositionally biased region 4, modified residue 4, coiled-coil region 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96A19-F1	77.35	0.59

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 (4): 12, 26, 28, 537

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 104 (showing top): RNGTGGGC_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, CAGCTG_AP4_Q5, NFKB_Q6, AML_Q6, ZIC1_01, chr16q21, MODULE_69, CHEN_METABOLIC_SYNDROM_NETWORK, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, LI_INDUCED_T_TO_NATURAL_KILLER_UP, CHYLA_CBFA2T3_TARGETS_UP, WIERENGA_STAT5A_TARGETS_UP

GO Biological Process (0):

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

GO Cellular Component (1): myosin complex (GO:0016459)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

448 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC102A	KIAA1671	Q9BY89	514
CCDC102A	CDC42EP4	Q9H3Q1	495
CCDC102A	GALNT16	Q8N428	491
CCDC102A	KTN1	Q86UP2	460
CCDC102A	SUGCT	Q9HAC7	460
CCDC102A	HEG1	Q9ULI3	460
CCDC102A	DOK4	Q8TEW6	459
CCDC102A	ERLEC1	Q96DZ1	458
CCDC102A	DENND10	Q8TCE6	457
CCDC102A	ASB2	Q96Q27	438
CCDC102A	SLX9	Q9NSI2	435
CCDC102A	CLDND2	Q8NHS1	431
CCDC102A	LAYN	Q6UX15	426
CCDC102A	CACNB3	P54284	414
CCDC102A	NUP107	P57740	397
CCDC102A	MAN2B1	O00754	397

IntAct

81 interactions, top by confidence:

A	B	Type	Score
RNF185	TMBIM6	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
HSPB2	BAG3	psi-mi:“MI:0914”(association)	0.670
KRT34	TXLNA	psi-mi:“MI:0914”(association)	0.670
LACTB	CCDC102A	psi-mi:“MI:0914”(association)	0.560
LACTB	CCDC102A	psi-mi:“MI:0915”(physical association)	0.560
KIAA1328	APC	psi-mi:“MI:0914”(association)	0.550
BIRC5	SSC5D	psi-mi:“MI:0914”(association)	0.530
PIP4K2A	AP3B1	psi-mi:“MI:0914”(association)	0.530
CCDC6	LZTS3	psi-mi:“MI:0914”(association)	0.530
NAP1L5	RPS2	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
MAGEA1	MAGEB3	psi-mi:“MI:0914”(association)	0.530
CCDC102B	CCDC102A	psi-mi:“MI:0915”(physical association)	0.400
MYH9	NAP1L1	psi-mi:“MI:0914”(association)	0.350
Washc1	COX7A2	psi-mi:“MI:0914”(association)	0.350
VPS26B	KIF1B	psi-mi:“MI:0914”(association)	0.350
DSN1	SPC24	psi-mi:“MI:0914”(association)	0.350
FAM167A	SHTN1	psi-mi:“MI:0914”(association)	0.350
ISOC2	MPP2	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
MAGEA1	ANKHD1	psi-mi:“MI:0914”(association)	0.350
SYNC	NDC80	psi-mi:“MI:0914”(association)	0.350
GOPC	ZBTB5	psi-mi:“MI:0914”(association)	0.350

BioGRID (89): CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Proximity Label-MS), CCDC102A (Proximity Label-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC102A (Affinity Capture-MS)

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: A0JNH6, Q3TMW1, Q68D86, Q6DFL0, Q6NZW0, Q96A19

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 112 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.

GO biological processes:

GO term	Partners	Fold	FDR
intermediate filament organization	5	12.7×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	103
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1102 predictions. Top by Δscore:

Variant	Effect	Δscore
16:57512866:GGAGC:G	acceptor_gain	1.0000
16:57512867:GAGC:G	acceptor_gain	1.0000
16:57512868:AGC:A	acceptor_gain	1.0000
16:57512869:GC:G	acceptor_gain	1.0000
16:57512870:CC:C	acceptor_gain	1.0000
16:57512870:CCTG:C	acceptor_loss	1.0000
16:57512871:C:A	acceptor_loss	1.0000
16:57512871:C:CC	acceptor_gain	1.0000
16:57515441:CCAG:C	acceptor_gain	1.0000
16:57515442:CAG:C	acceptor_gain	1.0000
16:57515442:CAGC:C	acceptor_gain	1.0000
16:57515444:GCTGT:G	acceptor_loss	1.0000
16:57515445:C:CC	acceptor_gain	1.0000
16:57515447:G:C	acceptor_gain	1.0000
16:57515453:G:C	acceptor_gain	1.0000
16:57515453:G:GC	acceptor_gain	1.0000
16:57515458:C:CT	acceptor_gain	1.0000
16:57516287:CCTCA:C	donor_loss	1.0000
16:57516288:CTCAC:C	donor_loss	1.0000
16:57516289:TCAC:T	donor_loss	1.0000
16:57516290:CACCT:C	donor_loss	1.0000
16:57516291:A:AC	donor_gain	1.0000
16:57516291:ACC:A	donor_loss	1.0000
16:57516292:C:CC	donor_gain	1.0000
16:57516292:CCT:C	donor_gain	1.0000
16:57516459:AGCTC:A	acceptor_gain	1.0000
16:57516461:CTC:C	acceptor_gain	1.0000
16:57516462:TC:T	acceptor_gain	1.0000
16:57516463:CC:C	acceptor_gain	1.0000
16:57516463:CCT:C	acceptor_loss	1.0000

AlphaMissense

3549 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:57516324:A:G	L463P	1.000
16:57516304:C:G	A470P	0.999
16:57516345:A:G	L456P	0.999
16:57515350:A:G	L505P	0.998
16:57515401:A:G	L488P	0.998
16:57515407:C:G	R486P	0.998
16:57515413:A:G	L484P	0.998
16:57515419:C:G	R482P	0.998
16:57516312:A:G	L467P	0.998
16:57516320:C:A	K464N	0.998
16:57516320:C:G	K464N	0.998
16:57515359:A:G	L502P	0.997
16:57515435:C:G	A477P	0.997
16:57516342:C:G	R457P	0.997
16:57516388:C:G	A442P	0.997
16:57516450:A:G	L421P	0.997
16:57515371:A:G	L498P	0.996
16:57515392:T:G	Q491P	0.996
16:57515420:G:T	R482S	0.996
16:57515443:A:G	L474P	0.996
16:57516336:C:G	R459P	0.996
16:57515405:A:G	S487P	0.995
16:57516322:T:C	K464E	0.995
16:57516381:C:G	R444P	0.995
16:57516396:A:G	L439P	0.995
16:57515353:T:G	H504P	0.994
16:57515354:G:C	H504D	0.994
16:57516378:C:G	R445P	0.993
16:57516459:A:G	L418P	0.993
16:57515341:C:A	R508M	0.992

dbSNP variants (sampled 300 via entrez): RS1000067157 (16:57514265 C>T), RS1000413130 (16:57517312 G>A), RS1000418529 (16:57513993 T>C), RS1000512748 (16:57523467 A>G), RS1000566574 (16:57523145 G>C,T), RS1000678885 (16:57529776 A>G), RS1000762903 (16:57517583 A>G), RS1000781336 (16:57535483 T>G), RS1001128871 (16:57529574 C>T), RS1001693301 (16:57522752 G>A,T), RS1001848431 (16:57529450 T>G), RS1002005235 (16:57535021 C>T), RS1002040638 (16:57516663 G>A), RS1002145361 (16:57515565 C>A,T), RS1002307227 (16:57528370 C>A)

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

2 associations (top):

Study	Trait	p-value
GCST001736_2	Cataracts in type 2 diabetes	5.000000e-06
GCST010241_417	Apolipoprotein A1 levels	3.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004614	apolipoprotein A 1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, decreases expression	7
mercuric bromide	decreases expression, affects cotreatment	2
Benzo(a)pyrene	decreases methylation, increases methylation, increases mutagenesis	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
fluorene-9-bisphenol	decreases expression	1
triphenyl phosphate	affects expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects 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
dorsomorphin	decreases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Atrazine	decreases expression	1
Cisplatin	decreases expression	1
Cytarabine	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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