CCDC102B

Summary

CCDC102B (coiled-coil domain containing 102B, HGNC:26295) is a protein-coding gene on chromosome 18q22.1, encoding Coiled-coil domain-containing protein 102B (Q68D86). During interphase, forms fibers at the proximal ends of centrioles to maintain centrosome cohesion.

Enables protein serine/threonine kinase binding activity. Involved in centriole-centriole cohesion. Located in centriole.

Source: NCBI Gene 79839 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 133 total — 1 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_024781

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26295
Approved symbol	CCDC102B
Name	coiled-coil domain containing 102B
Location	18q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23594, HsT1731, AN
Ensembl gene	ENSG00000150636
Ensembl biotype	protein_coding
OMIM	621147
Entrez	79839

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 23 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000360242, ENST00000577772, ENST00000577800, ENST00000578970, ENST00000580292, ENST00000581103, ENST00000581520, ENST00000582077, ENST00000582371, ENST00000584156, ENST00000584775, ENST00000903417, ENST00000903418, ENST00000903419, ENST00000903420, ENST00000903421, ENST00000903422, ENST00000903423, ENST00000903424, ENST00000903425, ENST00000903426, ENST00000903427, ENST00000903428, ENST00000903429, ENST00000903430, ENST00000948277, ENST00000948278, ENST00000948279

RefSeq mRNA: 2 — MANE Select: NM_024781 NM_001093729, NM_024781

CCDS: CCDS11996

Canonical transcript exons

ENST00000360242 — 8 exons

Exon	Start	End
ENSE00001259797	69054030	69055189
ENSE00001348762	69010934	69011104
ENSE00001493103	68798080	68798181
ENSE00003498170	68897219	68897428
ENSE00003527725	68846313	68846421
ENSE00003532674	68874669	68874785
ENSE00003603940	68836749	68837369
ENSE00003714693	68838706	68838926

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 92.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.1624 / max 215.3042, expressed in 1184 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170693	2.5922	949
170697	1.1058	360
170696	0.6568	280
170698	0.4272	186
170694	0.2491	101
170695	0.0842	30
170701	0.0347	6
170702	0.0125	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	92.40	gold quality
calcaneal tendon	UBERON:0003701	91.68	gold quality
gall bladder	UBERON:0002110	87.20	gold quality
visceral pleura	UBERON:0002401	86.88	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.26	gold quality
upper lobe of left lung	UBERON:0008952	85.25	gold quality
upper lobe of lung	UBERON:0008948	84.92	gold quality
right lung	UBERON:0002167	84.69	gold quality
lung	UBERON:0002048	82.77	gold quality
tendon	UBERON:0000043	82.07	gold quality
adrenal tissue	UBERON:0018303	81.96	gold quality
left testis	UBERON:0004533	81.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.75	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	79.84	gold quality
islet of Langerhans	UBERON:0000006	79.74	gold quality
right testis	UBERON:0004534	79.62	gold quality
lymph node	UBERON:0000029	79.58	gold quality
testis	UBERON:0000473	79.39	gold quality
pleura	UBERON:0000977	79.00	gold quality
omental fat pad	UBERON:0010414	78.32	gold quality
peritoneum	UBERON:0002358	78.22	gold quality
tibial artery	UBERON:0007610	78.02	gold quality
popliteal artery	UBERON:0002250	77.98	gold quality
colonic epithelium	UBERON:0000397	77.87	gold quality
left coronary artery	UBERON:0001626	77.55	gold quality
adipose tissue of abdominal region	UBERON:0007808	77.22	gold quality
ventricular zone	UBERON:0003053	77.17	gold quality
rectum	UBERON:0001052	77.12	gold quality
right atrium auricular region	UBERON:0006631	77.10	gold quality
subcutaneous adipose tissue	UBERON:0002190	76.29	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-10662	yes	604.73
E-HCAD-31	yes	19.39
E-MTAB-8410	yes	17.59
E-GEOD-83139	yes	6.72
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting CCDC102B, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
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-493-5P	99.96	72.47	2382
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-5680	99.91	69.83	3421

Literature-anchored findings (GeneRIF, showing 2)

• development of myopic maculopathy thus likely exhibits a unique background apart from the development of myopia itself; elucidation of the roles of CCDC102B in myopic maculopathy development may thus provide insights into preventive methods for blindness in patients with high myopia (PMID:29725004)
• CCDC102B is phosphorylated by Nek2A (an isoform encoded by NEK2) and is disassociated from the centrosome at the onset of mitosis. Findings reveal a molecular role for CCDC102B in centrosome cohesion and centrosome linker assembly. (PMID:30404835)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-14a17.10	ENSDARG00000076534

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), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), 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 102B — Q68D86 (reviewed: Q68D86)

All UniProt accessions (5): Q68D86, J3KRG3, J3KRT2, J3QL62, J3QLG6

UniProt curated annotations — full annotation on UniProt →

Function. During interphase, forms fibers at the proximal ends of centrioles to maintain centrosome cohesion. During mitosis, dissociates from the centrosome following phosphorylation to allow centrosome separation. Contributes to CROCC/rootletin filament formation.

Subunit / interactions. Interacts (via N-terminus) with centriolar protein CEP250/CNAP1; the interaction results in recruitment of CCDC102B to the proximal ends of centrioles. Interacts (via N-terminus) with CROCC/rootletin and LRRC45. Interacts (via N-terminus) with serine/threonine-protein kinase NEK2; the interaction results in phosphorylation of CCDC102B.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.

Post-translational modifications. Phosphorylated directly or indirectly by NEK2 during mitosis which causes dissociation of CCDC102B from the centrosome and allows for centrosome separation.

Isoforms (2)

UniProt ID	Names	Canonical?
Q68D86-1	1	yes
Q68D86-2	2

RefSeq proteins (2): NP_001087198, NP_079057* (*=MANE)

Domains & families (InterPro)

UniProt features (37 total): modified residue 10, mutagenesis site 10, sequence variant 6, coiled-coil region 3, sequence conflict 3, region of interest 2, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q68D86-F1	76.95	0.53

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 (10): 142, 194, 210, 401, 404, 406, 21, 22, 34, 135

Mutagenesis-validated functional residues (10):

Position	Phenotype
21	substantial decrease in phosphorylation; when associated with a-22, a-34, a-135, a-142, a-194, a-210, a-401, a-404 and a
22	substantial decrease in phosphorylation; when associated with a-21, a-34, a-135, a-142, a-194, a-210, a-401, a-404 and a
34	substantial decrease in phosphorylation; when associated with a-21, a-22, a-135, a-142, a-194, a-210, a-401, a-404 and a
135	substantial decrease in phosphorylation; when associated with a-21, a-22, a-34, a-142, a-194, a-210, a-401, a-404 and a-
142	substantial decrease in phosphorylation; when associated with a-21, a-22, a-34, a-135, a-194, a-210, a-401, a-404 and a-
194	substantial decrease in phosphorylation; when associated with a-21, a-22, a-34, a-135, a-142, a-210, a-401, a-404 and a-
210	substantial decrease in phosphorylation; when associated with a-21, a-22, a-34, a-135, a-142, a-194, a-401, a-404 and a-
401	substantial decrease in phosphorylation; when associated with a-21, a-22, a-34, a-135, a-142, a-194, a-210, a-404 and a-
404	substantial decrease in phosphorylation; when associated with a-21, a-22, a-34, a-135, a-142, a-194, a-210, a-401 and a-
406	substantial decrease in phosphorylation; when associated with a-21, a-22, a-34, a-135, a-142, a-194, a-210, a-401 and a-

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 84 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, chr18q22, GOCC_CENTRIOLE, BUCKANOVICH_T_LYMPHOCYTE_HOMING_ON_TUMOR_UP, GOBP_CELL_CYCLE_PROCESS, GOMF_KINASE_BINDING, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION, GOBP_CENTRIOLE_CENTRIOLE_COHESION, GOBP_MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION, PTEN_DN.V1_UP, KRAS.600_UP.V1_DN, KRAS.600.LUNG.BREAST_UP.V1_DN, CSHL1_TARGET_GENES, HMGA1_TARGET_GENES

GO Biological Process (1): centriole-centriole cohesion (GO:0010457)

GO Molecular Function (2): protein serine/threonine kinase binding (GO:0120283), protein binding (GO:0005515)

GO Cellular Component (3): centriole (GO:0005814), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
centrosome cycle	1
cell cycle process	1
protein kinase binding	1
binding	1
microtubule organizing center	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

576 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC102B	RTTN	Q86VV8	606
CCDC102B	ELOVL2	Q9NXB9	570
CCDC102B	DOK6	Q6PKX4	545
CCDC102B	CEP44	Q9C0F1	500
CCDC102B	CCDC15	Q0P6D6	486
CCDC102B	PDE4C	Q08493	479
CCDC102B	L3MBTL4	Q8NA19	462
CCDC102B	ELOVL5	Q9NYP7	459
CCDC102B	FHL2	Q14192	446
CCDC102B	CNTLN	Q9NXG0	443
CCDC102B	FAM89B	Q8N5H3	436
CCDC102B	LRRC45	Q96CN5	432
CCDC102B	RASSF7	Q02833	431
CCDC102B	PNLIPRP3	Q17RR3	419
CCDC102B	DTNA	Q9Y4J8	408

IntAct

402 interactions, top by confidence:

A	B	Type	Score
TRIM27	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
PNMA5	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
TRIM54	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	NIF3L1	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	ZNF20	psi-mi:“MI:0915”(physical association)	0.720
PSMA1	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	LMO4	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	BYSL	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	FAM161A	psi-mi:“MI:0915”(physical association)	0.720
PPP1R18	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
CCHCR1	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	POP5	psi-mi:“MI:0915”(physical association)	0.720
MAGOHB	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	CEP19	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	ENKD1	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	SPG21	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	HMG20B	psi-mi:“MI:0915”(physical association)	0.720
RSPH14	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	TRIM27	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	PNMA5	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	TRIM54	psi-mi:“MI:0915”(physical association)	0.720
ZNF20	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	PSMA1	psi-mi:“MI:0915”(physical association)	0.720
LMO4	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
BYSL	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
FAM161A	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	PPP1R18	psi-mi:“MI:0915”(physical association)	0.720
CCDC102B	CCHCR1	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (178): CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid), CCDC102B (Two-hybrid)

ESM2 similar proteins: A0A1W2P884, A2AM05, A2AUM9, A6PWD2, B1AJZ9, E9Q1U1, F7DP49, O08970, P0CB05, P0DO97, P27628, Q05D60, Q0KK56, Q0VF96, Q3UPP8, Q3V036, Q4KLH6, Q4L180, Q4R703, Q4R7H3, Q5R829, Q5R923, Q5SZL2, Q5U3Z6, Q68D86, Q6AW69, Q6P2H3, Q6PCQ0, Q6PHN1, Q6TFL3, Q6ZQ06, Q70FJ1, Q7M6Y5, Q8BGY3, Q8BMK0, Q8BVC4, Q8K3K8, Q8R5M4, Q90Z16, Q91365

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

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
CEP250	“up-regulates activity”	CCDC102B	relocalization
NEK2	“down-regulates activity”	CCDC102B	phosphorylation
CCDC102B	“up-regulates activity”	LRRC45	binding
CCDC102B	“up-regulates activity”	CROCC	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	100
Likely benign	10
Benign	8

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
60032	GRCh38/hg38 18q22.1-22.2(chr18:69030251-69682957)x1	Pathogenic
564543	GRCh37/hg19 18q22.1-22.3(chr18:66179104-68793656)x1	Likely pathogenic
564549	GRCh37/hg19 18q22.1-22.2(chr18:64396295-67913141)x1	Likely pathogenic
980182	GRCh37/hg19 18q22.1-22.3(chr18:65736299-69297115)x1	Likely pathogenic

SpliceAI

2849 predictions. Top by Δscore:

Variant	Effect	Δscore
18:68838701:TTCA:T	acceptor_loss	1.0000
18:68838704:A:AG	acceptor_gain	1.0000
18:68838704:A:G	acceptor_loss	1.0000
18:68838704:AG:A	acceptor_gain	1.0000
18:68838705:G:GG	acceptor_gain	1.0000
18:68838705:GG:G	acceptor_gain	1.0000
18:68838705:GGAA:G	acceptor_gain	1.0000
18:68838856:G:GT	donor_gain	1.0000
18:68838922:AGAGA:A	donor_gain	1.0000
18:68838923:GAGA:G	donor_gain	1.0000
18:68838923:GAGAG:G	donor_gain	1.0000
18:68838924:AGA:A	donor_gain	1.0000
18:68838925:GA:G	donor_gain	1.0000
18:68838925:GAG:G	donor_gain	1.0000
18:68838925:GAGT:G	donor_loss	1.0000
18:68838927:G:GG	donor_gain	1.0000
18:68838929:AAGT:A	donor_loss	1.0000
18:68874588:C:G	donor_gain	1.0000
18:68874667:A:AG	acceptor_gain	1.0000
18:68874668:G:GA	acceptor_gain	1.0000
18:68874783:GAG:G	donor_gain	1.0000
18:68874784:AG:A	donor_loss	1.0000
18:68874785:GG:G	donor_loss	1.0000
18:68874787:T:G	donor_loss	1.0000
18:69010928:T:TA	acceptor_gain	1.0000
18:69010932:A:G	acceptor_gain	1.0000
18:69011100:A:G	donor_gain	1.0000
18:69054029:GCTT:G	acceptor_gain	1.0000
18:68737011:T:G	donor_gain	0.9900
18:68799369:T:G	acceptor_gain	0.9900

AlphaMissense

3415 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:68837046:T:A	W95R	0.999
18:68837046:T:C	W95R	0.999
18:68837048:G:C	W95C	0.999
18:68837048:G:T	W95C	0.999
18:68837067:T:A	W102R	0.998
18:68837067:T:C	W102R	0.998
18:68837069:G:C	W102C	0.998
18:68837069:G:T	W102C	0.998
18:68837079:T:A	W106R	0.998
18:68837079:T:C	W106R	0.998
18:68837043:T:A	W94R	0.997
18:68837043:T:C	W94R	0.997
18:68837045:G:C	W94C	0.997
18:68837045:G:T	W94C	0.997
18:68837081:G:C	W106C	0.997
18:68837081:G:T	W106C	0.997
18:68837072:A:C	R103S	0.996
18:68837072:A:T	R103S	0.996
18:68837049:T:C	S96P	0.995
18:68837027:G:A	M88I	0.994
18:68837027:G:C	M88I	0.994
18:68837027:G:T	M88I	0.994
18:68837041:G:C	R93P	0.993
18:68837047:G:C	W95S	0.993
18:68837061:G:C	A100P	0.993
18:68837071:G:C	R103T	0.993
18:68837092:G:C	R110P	0.993
18:68837016:G:C	A85P	0.992
18:68837102:G:C	R113S	0.992
18:68837102:G:T	R113S	0.992

dbSNP variants (sampled 300 via entrez): RS1000007056 (18:68734501 A>G,T), RS1000017956 (18:68793328 G>C), RS1000019162 (18:69054797 G>A), RS1000022084 (18:68905617 G>A), RS1000025491 (18:69005675 C>A), RS1000037584 (18:69046644 C>A), RS1000038540 (18:68993622 A>G), RS1000039160 (18:68832872 C>T), RS1000045145 (18:68816103 A>G), RS1000058231 (18:69005499 T>C), RS1000058452 (18:68725415 G>T), RS1000076203 (18:69005197 A>G), RS1000078821 (18:68872448 A>G), RS1000082534 (18:68781802 T>A), RS1000086879 (18:68923863 A>G)

Disease associations

OMIM: gene MIM:621147 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): megacolon (MONDO:0001273)

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002207_1	Liver enzyme levels (alanine transaminase)	3.000000e-06
GCST004970_28	Caudate activity during reward	6.000000e-08
GCST005024_40	Pursuit maintenance gain	4.000000e-07
GCST005028_2	Pursuit maintenance gain in psychotic disorders	3.000000e-07
GCST005715_1	Myopic maculopathy	2.000000e-12
GCST009221_3	Rostral anterior cingulate cortex volume	3.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008387	caudate nucleus measurement
EFO:0008396	response to reward
EFO:0008433	pursuit maintenance gain measurement
EFO:0009177	myopic maculopathy severity measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008531	Megacolon	C06.405.469.158.701

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	4
Progesterone	increases expression	2
methylmercuric chloride	decreases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
zinc chloride	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
Arsenic Trioxide	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Air Pollutants	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Catechin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Nickel	increases expression	1
Silicon Dioxide	increases expression	1
Thiram	decreases expression	1
Zinc	increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04340856	Not specified	COMPLETED	Retrospective, Uncontrolled Cohort Study on the Therapy of Chronic Megalon
NCT07470892	Not specified	NOT_YET_RECRUITING	Preoperative Fish Oil PN and Prognosis After Constipation Surgery