CCDC146

Summary

CCDC146 (coiled-coil domain containing 146, HGNC:29296) is a protein-coding gene on chromosome 7q11.23, encoding Coiled-coil domain-containing protein 146 (Q8IYE0). Essential for sperm flagellum biogenesis and male fertility.

Involved in spermatid development. Located in several cellular components, including microtubule organizing center; midbody; and sperm flagellum. Implicated in spermatogenic failure 94.

Source: NCBI Gene 57639 — RefSeq curated summary.

At a glance

• Gene–disease (curated): male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate, GenCC)
• GWAS associations: 7
• Clinical variants (ClinVar): 187 total — 4 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 10
• MANE Select transcript: NM_020879

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29296
Approved symbol	CCDC146
Name	coiled-coil domain containing 146
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1505, MBO2
Ensembl gene	ENSG00000135205
Ensembl biotype	protein_coding
OMIM	619829
Entrez	57639

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 retained_intron, 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000285871, ENST00000415740, ENST00000415750, ENST00000461259, ENST00000461882, ENST00000464021, ENST00000474733, ENST00000478101, ENST00000488998, ENST00000890162

RefSeq mRNA: 1 — MANE Select: NM_020879 NM_020879

CCDS: CCDS34671

Canonical transcript exons

ENST00000285871 — 19 exons

Exon	Start	End
ENSE00001090692	77273694	77273789
ENSE00001425493	77122615	77122732
ENSE00001426910	77294663	77295204
ENSE00003458565	77286798	77286926
ENSE00003466775	77260009	77260236
ENSE00003519013	77241691	77241900
ENSE00003536120	77167658	77167824
ENSE00003544316	77292952	77293200
ENSE00003554200	77254506	77254563
ENSE00003558723	77256333	77256509
ENSE00003563755	77282557	77282785
ENSE00003599729	77258995	77259068
ENSE00003611216	77236947	77237029
ENSE00003616742	77278752	77278840
ENSE00003630221	77262121	77262307
ENSE00003652423	77274482	77274652
ENSE00003654933	77287440	77287577
ENSE00003675157	77278937	77279101
ENSE00003680156	77280429	77280653

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 98.32.

FANTOM5 (CAGE): breadth broad, TPM avg 0.7217 / max 102.0217, expressed in 204 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79186	0.4306	135
79197	0.0809	39
79195	0.0605	26
79196	0.0476	24
79194	0.0324	17
79192	0.0267	9
79193	0.0176	5
79189	0.0120	1
79191	0.0051	3
79190	0.0048	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.32	gold quality
right uterine tube	UBERON:0001302	98.32	gold quality
bronchus	UBERON:0002185	96.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.42	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.11	gold quality
epithelium of nasopharynx	UBERON:0001951	93.00	gold quality
nasopharynx	UBERON:0001728	92.98	gold quality
left testis	UBERON:0004533	90.43	gold quality
right testis	UBERON:0004534	89.87	gold quality
nasal cavity epithelium	UBERON:0005384	89.43	gold quality
fallopian tube	UBERON:0003889	89.31	gold quality
caput epididymis	UBERON:0004358	88.72	gold quality
left lobe of thyroid gland	UBERON:0001120	88.68	gold quality
thyroid gland	UBERON:0002046	88.46	gold quality
testis	UBERON:0000473	88.24	gold quality
right lobe of thyroid gland	UBERON:0001119	88.09	gold quality
sural nerve	UBERON:0015488	87.89	gold quality
ascending aorta	UBERON:0001496	87.76	gold quality
thoracic aorta	UBERON:0001515	87.63	gold quality
descending thoracic aorta	UBERON:0002345	87.59	gold quality
secondary oocyte	CL:0000655	87.57	gold quality
endometrium	UBERON:0001295	87.25	gold quality
skin of abdomen	UBERON:0001416	87.25	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.16	gold quality
oviduct epithelium	UBERON:0004804	87.08	gold quality
minor salivary gland	UBERON:0001830	87.04	gold quality
cardiac muscle of right atrium	UBERON:0003379	86.94	silver quality
skin of leg	UBERON:0001511	86.78	gold quality
epithelial cell of pancreas	CL:0000083	86.75	silver quality
mucosa of stomach	UBERON:0001199	86.55	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	62.92
E-MTAB-10287	yes	28.13
E-HCAD-1	yes	27.60
E-GEOD-130148	yes	14.66
E-MTAB-9388	yes	6.96
E-MTAB-6379	no	751.80
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting CCDC146, 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-340-5P	100.00	72.50	4437
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-122B-5P	99.46	70.81	1457
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-1244	99.33	68.38	832
HSA-MIR-8065	99.19	70.38	1289
HSA-MIR-6769B-5P	98.73	64.91	1092
HSA-MIR-1178-3P	98.57	67.09	890
HSA-MIR-3613-5P	98.40	68.91	604
HSA-MIR-628-5P	98.36	67.74	844
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-6834-3P	98.16	65.77	551
HSA-MIR-6730-5P	98.03	68.12	1299
HSA-MIR-6769A-5P	97.99	64.16	851
HSA-MIR-409-5P	97.31	68.07	364
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-4703-3P	96.68	68.61	545

Literature-anchored findings (GeneRIF, showing 3)

• The results suggest a model in which chlamydial proteins other than CT288 recruit CCDC146 to the periphery of the inclusion, where the CT288-CCDC146 interaction might contribute to modulate the function of this host protein. (PMID:30094225)
• Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse. (PMID:38441556)
• Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice. (PMID:39245651)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc146	ENSDARG00000004794
mus_musculus	Ccdc146	ENSMUSG00000064280
rattus_norvegicus	Ccdc146	ENSRNOG00000012932

Paralogs (1): CFAP58 (ENSG00000120051)

Protein

Protein identifiers

Coiled-coil domain-containing protein 146 — Q8IYE0 (reviewed: Q8IYE0)

All UniProt accessions (2): C9JRR4, Q8IYE0

UniProt curated annotations — full annotation on UniProt →

Function. Essential for sperm flagellum biogenesis and male fertility.

Subunit / interactions. Interacts with CCDC38 and CCDC42. Interacts with intraflagellar transport proteins IFT20 and IFT88. (Microbial infection) Interacts with Chlamydia trachomatis incM/YT288. In host cells infected with C.trachomatis incM, CCDC146 is recruited to the periphery of the pathogen-containing vacuole but recruitment is not dependent on incM.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Flagellum axoneme. Cilium basal body. Midbody.

Tissue specificity. Widely expressed.

Disease relevance. Spermatogenic failure 94 (SPGF94) [MIM:620850] An autosomal recessive, male infertility disorder characterized by reduced progressive sperm motility and multiple morphologic abnormalities of the flagella, including irregularly shaped, short, absent, coiled, and multiple tails. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IYE0-1	1	yes
Q8IYE0-2	2

RefSeq proteins (1): NP_065930* (*=MANE)

Domains & families (InterPro)

UniProt features (16 total): coiled-coil region 5, sequence variant 4, sequence conflict 2, splice variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYE0-F1	78.78	0.22

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NUCLEUS_ORGANIZATION, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOCC_CENTROSOME, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, chr7q11, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION

GO Biological Process (13): cell morphogenesis (GO:0000902), nucleus organization (GO:0006997), spermatid development (GO:0007286), sperm axoneme assembly (GO:0007288), single fertilization (GO:0007338), cell population proliferation (GO:0008283), gene expression (GO:0010467), sperm flagellum assembly (GO:0120316), manchette assembly (GO:1905198), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), flagellated sperm motility (GO:0030317), cilium organization (GO:0044782)

GO Molecular Function (2): protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (12): centrosome (GO:0005813), centriole (GO:0005814), cytoskeleton (GO:0005856), axoneme (GO:0005930), midbody (GO:0030496), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), sperm head-tail coupling apparatus (GO:0120212), cytoplasm (GO:0005737), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
developmental process involved in reproduction	3
microtubule organizing center	3
organelle organization	2
spermatid development	2
binding	2
intracellular membraneless organelle	2
cilium	2
anatomical structure morphogenesis	1
germ cell development	1
spermatid differentiation	1
axoneme assembly	1
sperm flagellum assembly	1
fertilization	1
cellular process	1
macromolecule biosynthetic process	1
flagellated sperm motility	1
motile cilium assembly	1
cellular component assembly	1
male gamete generation	1
cellular developmental process	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
plasma membrane bounded cell projection organization	1
centriole	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
intracellular anatomical structure	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC146	CFAP184	Q2M329	623
CCDC146	DRC2	Q8IXS2	614
CCDC146	LRRC34	Q8IZ02	571
CCDC146	SPMIP4	Q8N865	545
CCDC146	CFAP263	Q9H0I3	544
CCDC146	TSNAXIP1	Q2TAA8	536
CCDC146	DRC7	Q8IY82	530
CCDC146	CCDC81	Q6ZN84	527
CCDC146	RSPH14	Q9UHP6	524
CCDC146	CFAP96	A7E2U8	523
CCDC146	CFAP100	Q494V2	520
CCDC146	SPATA18	Q8TC71	520
CCDC146	LRRC23	Q53EV4	519
CCDC146	CFAP161	Q6P656	518
CCDC146	CCDC159	P0C7I6	517
CCDC146	ZSWIM2	Q8NEG5	517

IntAct

177 interactions, top by confidence:

A	B	Type	Score
CCDC146	GMNN	psi-mi:“MI:0915”(physical association)	0.740
GMNN	CCDC146	psi-mi:“MI:0915”(physical association)	0.740
CCDC146	GMNN	psi-mi:“MI:0914”(association)	0.740
CCDC146	KRT38	psi-mi:“MI:0915”(physical association)	0.670
KRT38	CCDC146	psi-mi:“MI:0915”(physical association)	0.670
CCDC146	TEPSIN	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
KRT16	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
MCC	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
KRT31	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
CCNDBP1	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
NUP62	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	TRIM54	psi-mi:“MI:0915”(physical association)	0.560
MAGEA6	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
KRT27	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	KIFC3	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	TFIP11	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	VPS52	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
PDE4DIP	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	CBY2	psi-mi:“MI:0915”(physical association)	0.560
KRT34	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	MIPOL1	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	GPRASP2	psi-mi:“MI:0915”(physical association)	0.560
	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	SH3BP1	psi-mi:“MI:0915”(physical association)	0.560
FSD2	CCDC146	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (107): CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid), CCDC146 (Two-hybrid)

ESM2 similar proteins: A8HUA1, A8I4E9, A8IQE0, A8JF70, B2GUE2, B2RW38, B6MFW3, D3Z8K2, E1BM70, E2R1I5, E9Q9F7, F1MA98, F1QNW4, F6ZDS4, M1V4Y8, O01789, O15697, O35594, P0CK98, P0DL09, P10999, P12270, P14732, P16568, P21910, P70403, P83829, Q03427, Q08C53, Q0V9R4, Q13948, Q2T9W6, Q567U6, Q5EE04, Q5R8V1, Q5T655, Q5TZ80, Q5ZKI4, Q640U7, Q66H60

Diamond homologs: E9Q9F7, Q66H60, Q8IYE0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 58 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
Formation of the cornified envelope	8	27.0×	5e-08
Keratinization	8	17.1×	9e-07

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	7	53.5×	6e-09
intermediate filament organization	8	42.8×	3e-09
epithelial cell differentiation	6	23.4×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	2
Uncertain significance	142
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	Pathogenic
2687890	NM_020879.3(CCDC146):c.1084C>G (p.Arg362Gly)	Pathogenic
2687891	NM_020879.3(CCDC146):c.2112del (p.Arg704fs)	Pathogenic
3024125	NM_020879.3(CCDC146):c.1084C>T (p.Arg362Ter)	Pathogenic
4849312	NM_020879.3(CCDC146):c.610dup (p.Ala204fs)	Likely pathogenic
4849405	NM_020879.3(CCDC146):c.450-1G>T	Likely pathogenic

SpliceAI

4854 predictions. Top by Δscore:

Variant	Effect	Δscore
7:77167772:A:G	donor_gain	1.0000
7:77167822:G:GT	donor_gain	1.0000
7:77196986:C:CC	acceptor_gain	1.0000
7:77236945:A:AG	acceptor_gain	1.0000
7:77236946:G:GG	acceptor_gain	1.0000
7:77236946:GTTAC:G	acceptor_gain	1.0000
7:77254561:GGA:G	donor_gain	1.0000
7:77254562:GAG:G	donor_gain	1.0000
7:77254564:G:GG	donor_gain	1.0000
7:77259067:GT:G	donor_gain	1.0000
7:77262110:A:AG	acceptor_gain	1.0000
7:77262110:ACCT:A	acceptor_gain	1.0000
7:77262110:ACCTG:A	acceptor_gain	1.0000
7:77262113:T:A	acceptor_gain	1.0000
7:77262114:G:A	acceptor_gain	1.0000
7:77262119:A:AG	acceptor_gain	1.0000
7:77262119:AGAGG:A	acceptor_gain	1.0000
7:77262120:G:GG	acceptor_gain	1.0000
7:77262120:GA:G	acceptor_gain	1.0000
7:77262120:GAGGG:G	acceptor_gain	1.0000
7:77273754:G:GT	donor_gain	1.0000
7:77274477:A:AG	acceptor_gain	1.0000
7:77274478:A:G	acceptor_gain	1.0000
7:77274478:AAAG:A	acceptor_loss	1.0000
7:77274479:A:AG	acceptor_gain	1.0000
7:77274479:AAG:A	acceptor_loss	1.0000
7:77274480:A:AG	acceptor_gain	1.0000
7:77274481:G:GG	acceptor_gain	1.0000
7:77274481:GA:G	acceptor_gain	1.0000
7:77274481:GAA:G	acceptor_gain	1.0000

AlphaMissense

6402 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:77280644:G:C	R637P	0.995
7:77241831:T:C	L127P	0.988
7:77282568:T:C	L644P	0.988
7:77282577:G:C	R647P	0.987
7:77280434:T:C	L567P	0.986
7:77280611:T:C	L626P	0.984
7:77279074:T:C	L556P	0.982
7:77293016:T:C	L827P	0.982
7:77279010:G:C	A535P	0.979
7:77280457:G:C	A575P	0.979
7:77280614:G:C	R627P	0.979
7:77279065:T:C	L553P	0.977
7:77280449:T:C	L572P	0.977
7:77280631:G:C	A633P	0.977
7:77279085:G:C	A560P	0.976
7:77293009:G:C	A825P	0.976
7:77294723:C:A	R909S	0.976
7:77260143:G:C	R298P	0.974
7:77241725:G:C	A92P	0.971
7:77278972:G:C	R522P	0.970
7:77278982:A:C	R525S	0.970
7:77278982:A:T	R525S	0.970
7:77287474:T:C	L771P	0.970
7:77280569:T:C	L612P	0.967
7:77280442:T:C	S570P	0.966
7:77287453:T:C	L764P	0.965
7:77293030:G:C	A832P	0.965
7:77273746:T:C	L409P	0.964
7:77278939:T:C	L511P	0.964
7:77241857:G:C	A136P	0.961

dbSNP variants (sampled 300 via entrez): RS1000019615 (7:77292625 A>T), RS1000067358 (7:77128093 T>C), RS1000085127 (7:77286508 A>C), RS1000150506 (7:77184700 T>C), RS1000188845 (7:77230309 G>T), RS1000190854 (7:77275353 A>C), RS1000218014 (7:77135802 A>G), RS1000222517 (7:77224579 T>A), RS1000247432 (7:77178040 A>C), RS1000264317 (7:77177775 A>G), RS1000275372 (7:77261635 G>A,T), RS1000289429 (7:77204666 T>C), RS1000306530 (7:77261773 A>G), RS1000355821 (7:77191098 G>A), RS1000365503 (7:77147353 G>A)

Disease associations

OMIM: gene MIM:619829 | disease phenotypes: MIM:613729, MIM:620850

GenCC curated gene-disease

Disease	Classification	Inheritance
male infertility with azoospermia or oligozoospermia due to single gene mutation	Moderate	Autosomal recessive

Mondo (3): distal 7q11.23 microdeletion syndrome (MONDO:0013393), spermatogenic failure 94 (MONDO:0971002), (MONDO:0018393)

Orphanet (3): Distal 7q11.23 microdeletion syndrome (Orphanet:254351), Male infertility with spermatogenesis disorder due to single gene mutation (Orphanet:399786), Male infertility due to sperm motility disorder (Orphanet:399813)

HPO phenotypes

10 total (10 of 10 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000798	Oligozoospermia
HP:0003251	Male infertility
HP:0011462	Young adult onset
HP:0012207	Reduced sperm motility
HP:0032558	Absent sperm flagella
HP:0032559	Short sperm flagella
HP:0032560	Coiled sperm flagella
HP:0034011	Reduced progressive sperm motility
HP:0034309	Multiflagellar spermatozoa

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000830_1	Body mass index	2.000000e-06
GCST001651_61	Response to amphetamines	5.000000e-06
GCST004904_77	Body mass index	5.000000e-08
GCST011160_1	Ophthalmic complications in type 2 diabetes	3.000000e-08
GCST011161_7	Macrovascular complications in type 2 diabetes	5.000000e-08
GCST012459_1	Amyloid beta positivity	3.000000e-08
GCST90000025_351	Appendicular lean mass	4.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0009486	diabetic eye disease
EFO:0010977	macrovascular complications of diabetes
EFO:0005194	amyloid-beta measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases expression, decreases methylation, increases methylation	5
Valproic Acid	affects cotreatment, decreases expression	4
Benzo(a)pyrene	affects methylation, decreases expression	3
bisphenol A	affects expression, increases expression	2
Nickel	decreases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
decabromobiphenyl ether	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
benzo(e)pyrene	affects methylation	1
ferrous chloride	decreases expression	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects expression	1
Hydralazine	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Lipopolysaccharides	affects cotreatment, affects response to substance, increases expression	1
Methapyrilene	affects methylation	1

Clinical trials (associated diseases)

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