CCDC66

Summary

CCDC66 (coiled-coil domain containing 66, HGNC:27709) is a protein-coding gene on chromosome 3p14.3, encoding Coiled-coil domain-containing protein 66 (A2RUB6). Microtubule-binding protein required for ciliogenesis.

Enables microtubule binding activity. Involved in several processes, including ciliary transition zone assembly; microtubule cytoskeleton organization; and mitotic metaphase chromosome alignment. Located in several cellular components, including Flemming body; cytoskeleton; and photoreceptor inner segment.

Source: NCBI Gene 285331 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 189 total
• MANE Select transcript: NM_001141947

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27709
Approved symbol	CCDC66
Name	coiled-coil domain containing 66
Location	3p14.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686C0433
Ensembl gene	ENSG00000180376
Ensembl biotype	protein_coding
OMIM	619287
Entrez	285331

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 17 protein_coding, 8 retained_intron, 6 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay

ENST00000326595, ENST00000341455, ENST00000394672, ENST00000422222, ENST00000422788, ENST00000434467, ENST00000439445, ENST00000442522, ENST00000459746, ENST00000460838, ENST00000468108, ENST00000469966, ENST00000471681, ENST00000472582, ENST00000473322, ENST00000476142, ENST00000480884, ENST00000482673, ENST00000484441, ENST00000484623, ENST00000487739, ENST00000494672, ENST00000888355, ENST00000888356, ENST00000888357, ENST00000888358, ENST00000888359, ENST00000888360, ENST00000932966, ENST00000932967, ENST00000932968, ENST00000932969, ENST00000932970, ENST00000932971, ENST00000932972, ENST00000961334

RefSeq mRNA: 14 — MANE Select: NM_001141947 NM_001012506, NM_001141947, NM_001353147, NM_001353148, NM_001353149, NM_001353150, NM_001353151, NM_001353152, NM_001353153, NM_001353154, NM_001353155, NM_001353156, NM_001353158, NM_001353160

CCDS: CCDS33770, CCDS46852

Canonical transcript exons

ENST00000394672 — 18 exons

Exon	Start	End
ENSE00001916898	56621532	56621837
ENSE00001930073	56557175	56557253
ENSE00003475077	56615922	56616053
ENSE00003497445	56619777	56619901
ENSE00003506360	56592970	56593101
ENSE00003543601	56618172	56618212
ENSE00003555577	56593944	56594028
ENSE00003558258	56571181	56571302
ENSE00003563266	56593491	56593741
ENSE00003579147	56615128	56615272
ENSE00003644245	56613589	56613750
ENSE00003655761	56619271	56619527
ENSE00003665464	56617112	56617605
ENSE00003695727	56559569	56559594
ENSE00003695770	56558846	56558910
ENSE00003698820	56566594	56566759
ENSE00003699241	56566950	56567053
ENSE00003755808	56563684	56564125

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 96.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7090 / max 379.9191, expressed in 1699 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36976	15.4346	1699
36977	0.2744	50

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.70	gold quality
sural nerve	UBERON:0015488	95.82	gold quality
colonic epithelium	UBERON:0000397	93.84	gold quality
right uterine tube	UBERON:0001302	92.28	gold quality
adrenal tissue	UBERON:0018303	90.83	gold quality
adenohypophysis	UBERON:0002196	90.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.65	gold quality
cerebellar hemisphere	UBERON:0002245	90.34	gold quality
cerebellar cortex	UBERON:0002129	90.16	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.12	gold quality
left ovary	UBERON:0002119	90.03	gold quality
bone marrow cell	CL:0002092	89.81	gold quality
right ovary	UBERON:0002118	89.69	gold quality
pituitary gland	UBERON:0000007	89.67	gold quality
right testis	UBERON:0004534	89.43	gold quality
left testis	UBERON:0004533	89.22	gold quality
tibial nerve	UBERON:0001323	89.14	gold quality
right lobe of thyroid gland	UBERON:0001119	89.13	gold quality
body of pancreas	UBERON:0001150	89.02	gold quality
body of uterus	UBERON:0009853	88.88	gold quality
left lobe of thyroid gland	UBERON:0001120	88.79	gold quality
cerebellum	UBERON:0002037	88.21	gold quality
endocervix	UBERON:0000458	88.19	gold quality
thyroid gland	UBERON:0002046	87.99	gold quality
ventricular zone	UBERON:0003053	87.80	gold quality
mucosa of stomach	UBERON:0001199	87.77	gold quality
testis	UBERON:0000473	87.66	gold quality
minor salivary gland	UBERON:0001830	87.46	gold quality
muscle layer of sigmoid colon	UBERON:0035805	87.27	gold quality
tendon	UBERON:0000043	87.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting CCDC66, 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-551B-5P	99.96	71.28	3493
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-3611	98.76	68.76	1290
HSA-MIR-6807-5P	97.51	64.25	1046
HSA-MIR-645	97.28	66.30	486

Literature-anchored findings (GeneRIF, showing 13)

• this study identifies CCDC66 as a targeting factor for centrosome and cilium proteins (PMID:28235840)
• In-depth characterization revealed that circCCDC66 exerts its function via regulation of a subset of oncogenes, and knockdown of circCCDC66 inhibited tumor growth and cancer invasion in xenograft and orthotopic mouse models, respectively. Taken together, these findings highlight a novel oncogenic function of circRNA in cancer progression and metastasis. (PMID:28249903)
• Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene. (PMID:28369829)
• HGF/c-Met regulates expression of SAE2 and cirRNA CCDC66 to increase epithelial-to-mesenchymal transition and drug resistance of lung adenocarcinoma cells. (PMID:29855336)
• this is the first report revealing that cir-CCDC66 modulates DCX expression through sponging miR-488-3p and thus participates in the onset of Hirschsprung’s disease. (PMID:30443988)
• Circ-CCDC66 accelerates proliferation and invasion of gastric cancer via binding to miRNA-1238-3p. (PMID:31173287)
• Centrosomal and ciliary targeting of CCDC66 requires cooperative action of centriolar satellites, microtubules and molecular motors. (PMID:31582766)
• Circular RNA CCDC66 facilitates abdominal aortic aneurysm through the overexpression of CCDC66. (PMID:31997404)
• CircRNACCDC66 regulates cisplatin resistance in gastric cancer via the miR-618/BCL2 axis. (PMID:32253030)
• Circular RNA circCCDC66 promotes glioma proliferation by acting as a ceRNA for miR-320a to regulate FOXM1 expression. (PMID:34252882)
• Circular RNA CCDC66 Improves Murine Double Minute 4 (MDM4) Expression through Targeting miR-370 in Colorectal Cancer. (PMID:35069793)
• CCDC66 regulates primary cilium length and signaling via interactions with transition zone and axonemal proteins. (PMID:36606424)
• CCDC66 mutations are associated with high myopia through affected cell mitosis. (PMID:37852749)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc66	ENSMUSG00000046753
rattus_norvegicus	Ccdc66	ENSRNOG00000028380
drosophila_melanogaster	CG13251	FBGN0037014

Protein

Protein identifiers

Coiled-coil domain-containing protein 66 — A2RUB6 (reviewed: A2RUB6)

All UniProt accessions (6): A2RUB6, C9JYB8, F2Z2K6, F8WB87, F8WCY0, F8WDJ0

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-binding protein required for ciliogenesis. May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites. Required for the assembly of signaling-competent cilia with proper structure and length. Mediates this function in part by regulating transition zone assembly and basal body recruitment of the IFT-B complex. Cooperates with the ciliopathy proteins CSPP1 and CEP104 during cilium length regulation. Plays two important roles during cell division. First, is required for mitotic progression via regulation of spindle assembly, organization and orientation, levels of spindle microtubules (MTs), kinetochore-fiber integrity, and chromosome alignment. Second, functions during cytokinesis in part by regulating assembly and organization of central spindle and midbody MTs. Plays a role in retina morphogenesis and/or homeostasis.

Subunit / interactions. Homodimer; disulfide-linked. Interacts with CEP290. Interacts with PCM1. Interacts with ARMC9, TOGARAM1, CSPP1 and CEP104. Interacts with CDK5RAP2, CEP152, CEP192, TBG1 and PRC1.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriolar satellite. Cell projection. Cilium. Cilium basal body. Cilium axoneme. Photoreceptor inner segment. Photoreceptor outer segment. Spindle. Midbody.

Tissue specificity. Widely expressed (at protein level). Expressed in retina, mainly in photoreceptors but also in outer plexiform and ganglion cell layers (at protein level).

Isoforms (4)

UniProt ID	Names	Canonical?
A2RUB6-1	1	yes
A2RUB6-2	2
A2RUB6-3	3
A2RUB6-4	4

RefSeq proteins (14): NP_001012524, NP_001135419, NP_001340076, NP_001340077, NP_001340078, NP_001340079, NP_001340080, NP_001340081, NP_001340082, NP_001340083, NP_001340084, NP_001340085, NP_001340087, NP_001340089 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039183	CCD66	Family
IPR040467	CCDC66_dom	Domain

Pfam: PF15236

UniProt features (22 total): sequence variant 5, region of interest 4, splice variant 4, modified residue 4, sequence conflict 2, chain 1, mutagenesis site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A2RUB6-F1	57.56	0.13

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): 115, 121, 369, 606

Mutagenesis-validated functional residues (1):

Position	Phenotype
208–948	loss of association with microtubules and localization to centrosomes.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 148 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_CHROMOSOME_ORGANIZATION, GOBP_ESTABLISHMENT_OF_SPINDLE_ORIENTATION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_SPINDLE_LOCALIZATION, GOBP_CHROMOSOME_LOCALIZATION, GOBP_MICROTUBULE_NUCLEATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_ORGANELLE_FISSION, GOBP_CYTOKINESIS, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_CILIUM_ORGANIZATION

GO Biological Process (15): establishment of mitotic spindle orientation (GO:0000132), microtubule bundle formation (GO:0001578), retina homeostasis (GO:0001895), microtubule nucleation (GO:0007020), mitotic spindle organization (GO:0007052), mitotic metaphase chromosome alignment (GO:0007080), regulation of cytokinesis (GO:0032465), detection of light stimulus involved in visual perception (GO:0050908), cell division (GO:0051301), cilium assembly (GO:0060271), mitotic spindle assembly (GO:0090307), microtubule cytoskeleton organization involved in mitosis (GO:1902850), regulation of protein localization to cilium (GO:1903564), ciliary transition zone assembly (GO:1905349), cell projection organization (GO:0030030)

GO Molecular Function (3): microtubule binding (GO:0008017), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (19): photoreceptor outer segment (GO:0001750), photoreceptor inner segment (GO:0001917), centrosome (GO:0005813), spindle (GO:0005819), cytosol (GO:0005829), microtubule (GO:0005874), plasma membrane (GO:0005886), cilium (GO:0005929), axoneme (GO:0005930), cell junction (GO:0030054), midbody (GO:0030496), perinuclear theca (GO:0033011), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), Flemming body (GO:0090543), sperm end piece (GO:0097229), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	11
mitotic cell cycle	4
microtubule cytoskeleton organization	3
mitotic sister chromatid segregation	2
mitotic cell cycle process	2
protein localization to cilium	2
microtubule organizing center	2
microtubule cytoskeleton	2
intracellular membraneless organelle	2
cytoskeleton	2
establishment of mitotic spindle localization	1
establishment of spindle orientation	1
tissue homeostasis	1
microtubule polymerization	1
spindle organization	1
microtubule cytoskeleton organization involved in mitosis	1
metaphase chromosome alignment	1
cytokinesis	1
regulation of cell cycle process	1
regulation of cell division	1
visual perception	1
detection of light stimulus involved in sensory perception	1
cellular process	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
mitotic spindle organization	1
spindle assembly	1
mitotic nuclear division	1
regulation of protein localization	1
cellular component assembly	1
cilium assembly	1
cellular component organization	1
tubulin binding	1
identical protein binding	1
protein dimerization activity	1

Protein interactions and networks

STRING

1020 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC66	CCDC14	Q49A88	639
CCDC66	PRCD	Q00LT1	574
CCDC66	STIL	Q15468	570
CCDC66	CEP72	Q9P209	541
CCDC66	BICD2	Q8TD16	500
CCDC66	NINL	Q9Y2I6	460
CCDC66	CEP290	O15078	453
CCDC66	OPN1SW	P03999	452
CCDC66	RNF123	Q5XPI4	450
CCDC66	CEP131	Q9UPN4	436
CCDC66	CCDC13	Q8IYE1	427
CCDC66	CCDC18	Q5T9S5	423
CCDC66	ITGA7	Q13683	418
CCDC66	ABCC1	P33527	416
CCDC66	PRDM15	P57071	402

IntAct

38 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
CEP104	CCDC66	psi-mi:“MI:2364”(proximity)	0.540
CEP104	CCDC66	psi-mi:“MI:0915”(physical association)	0.540
CCDC66		psi-mi:“MI:0915”(physical association)	0.490
ARMC9	CCDC66	psi-mi:“MI:0915”(physical association)	0.400
CCDC66	TOGARAM1	psi-mi:“MI:0915”(physical association)	0.400
CCDC66	CCDC66	psi-mi:“MI:0915”(physical association)	0.400
CSPP1	CCDC66	psi-mi:“MI:0915”(physical association)	0.400
CCDC66	ARMC9	psi-mi:“MI:0915”(physical association)	0.400
CFTR	CCDC66	psi-mi:“MI:0915”(physical association)	0.370
	CCDC66	psi-mi:“MI:0915”(physical association)	0.370
CCDC66		psi-mi:“MI:0915”(physical association)	0.370
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
ANKRD36B	CCDC66	psi-mi:“MI:0914”(association)	0.350
PCM1	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP89	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
NINL	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
ODF2	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP162	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP135	CCDC66	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (38): CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC66 (Proximity Label-MS)

ESM2 similar proteins: A0A1W2P884, A2RUB6, A7E3D8, A8MT70, B0CM36, B2RYR0, F1PZQ5, O95447, Q0IIM1, Q0P5X1, Q2KHM9, Q2T9X8, Q4KLH6, Q4R3Q7, Q4R6Q9, Q5NVK0, Q5R7F8, Q5RBD6, Q5RBY6, Q5RC32, Q5RD75, Q5SZL2, Q5TB80, Q5TID7, Q5VX52, Q5XI03, Q6A000, Q6NS45, Q6NZK5, Q6ZPR1, Q6ZQ06, Q7Z4H7, Q80VP2, Q80XJ2, Q80ZU5, Q86T90, Q86YF9, Q8BMD2, Q8IYW5, Q8N0Z3

Diamond homologs: A2RUB6, F1PZQ5, Q5RBD6, Q6NS45

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 24 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	5	56.6×	5e-07
Loss of proteins required for interphase microtubule organization from the centrosome	5	56.6×	5e-07
Anchoring of the basal body to the plasma membrane	7	56.5×	1e-09
AURKA Activation by TPX2	5	54.4×	5e-07
Recruitment of mitotic centrosome proteins and complexes	5	48.5×	7e-07
Regulation of PLK1 Activity at G2/M Transition	5	45.3×	9e-07
Recruitment of NuMA to mitotic centrosomes	5	41.6×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
cilium assembly	6	20.1×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	144
Likely benign	12
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3339 predictions. Top by Δscore:

Variant	Effect	Δscore
3:56558844:A:AG	acceptor_gain	1.0000
3:56558845:G:GG	acceptor_gain	1.0000
3:56558845:GA:G	acceptor_gain	1.0000
3:56558845:GAGAT:G	acceptor_gain	1.0000
3:56558892:C:G	donor_gain	1.0000
3:56558907:TATGG:T	donor_loss	1.0000
3:56558908:ATGG:A	donor_loss	1.0000
3:56558909:TGGTA:T	donor_loss	1.0000
3:56558910:GGT:G	donor_loss	1.0000
3:56558911:G:T	donor_loss	1.0000
3:56558912:T:G	donor_loss	1.0000
3:56566739:GT:G	donor_gain	1.0000
3:56567052:AGGTA:A	donor_loss	1.0000
3:56567054:GTAG:G	donor_loss	1.0000
3:56571301:GG:G	donor_gain	1.0000
3:56571302:GG:G	donor_gain	1.0000
3:56593081:G:GT	donor_gain	1.0000
3:56593082:A:T	donor_gain	1.0000
3:56593614:A:AG	acceptor_gain	1.0000
3:56593710:G:GT	donor_gain	1.0000
3:56593729:G:GG	donor_gain	1.0000
3:56593737:ACAAA:A	donor_gain	1.0000
3:56593738:CAAA:C	donor_gain	1.0000
3:56593739:AAA:A	donor_gain	1.0000
3:56593741:AGTAA:A	donor_loss	1.0000
3:56593742:G:GG	donor_gain	1.0000
3:56593743:TAA:T	donor_loss	1.0000
3:56613747:GGAA:G	donor_gain	1.0000
3:56613748:G:T	donor_gain	1.0000
3:56613748:GAA:G	donor_gain	1.0000

AlphaMissense

6305 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:56619894:T:C	L918P	0.995
3:56619885:T:C	L915P	0.994
3:56619876:T:C	L912P	0.992
3:56619898:A:C	R919S	0.991
3:56619898:A:T	R919S	0.991
3:56621536:T:C	L922P	0.989
3:56619869:G:C	A910P	0.988
3:56558860:T:C	L9P	0.987
3:56619897:G:C	R919T	0.987
3:56593994:G:C	R457P	0.986
3:56594006:G:C	R461P	0.986
3:56558854:T:C	L7S	0.985
3:56613592:G:C	A470P	0.985
3:56615176:G:C	A539P	0.985
3:56558893:T:C	L20P	0.984
3:56619885:T:A	L915H	0.984
3:56613601:G:C	A473P	0.983
3:56619887:T:C	S916P	0.983
3:56617470:G:C	R734S	0.981
3:56617470:G:T	R734S	0.981
3:56621546:G:C	K925N	0.981
3:56621546:G:T	K925N	0.981
3:56557252:G:A	G4R	0.980
3:56557252:G:C	G4R	0.980
3:56567051:T:C	L271P	0.980
3:56594003:G:C	R460P	0.980
3:56594027:A:C	Q468P	0.980
3:56615225:T:C	L555S	0.980
3:56617375:T:A	W703R	0.980
3:56617375:T:C	W703R	0.980

dbSNP variants (sampled 300 via entrez): RS1000019575 (3:56596609 A>G), RS1000070018 (3:56555283 T>C), RS1000108522 (3:56594700 C>A), RS1000168210 (3:56617885 T>C), RS1000207920 (3:56618326 G>C), RS1000224298 (3:56603007 T>G), RS1000256862 (3:56570099 G>A), RS1000289567 (3:56569806 C>T), RS1000300512 (3:56559181 GATGA>G), RS1000387348 (3:56600772 A>G), RS1000416323 (3:56565337 G>A), RS1000438681 (3:56615241 T>C), RS1000547148 (3:56617132 T>C,G), RS1000563069 (3:56575086 A>G), RS1000592682 (3:56568690 A>G)

Disease associations

OMIM: gene MIM:619287 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST003542_62	Night sleep phenotypes	5.000000e-06
GCST004067_163	Hip circumference adjusted for BMI	4.000000e-07
GCST004067_30	Hip circumference adjusted for BMI	2.000000e-08
GCST009391_1437	Metabolite levels	1.000000e-06
GCST009391_1817	Metabolite levels	4.000000e-06
GCST009391_1824	Metabolite levels	3.000000e-06
GCST009391_1860	Metabolite levels	5.000000e-06
GCST009391_840	Metabolite levels	2.000000e-07
GCST009391_935	Metabolite levels	9.000000e-06
GCST009391_946	Metabolite levels	1.000000e-06
GCST010002_425	Refractive error	2.000000e-10
GCST012227_993	Hip circumference adjusted for BMI	1.000000e-08
GCST90002388_197	Lymphocyte count	1.000000e-12
GCST90020028_801	Hip circumference adjusted for BMI	5.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007827	nighttime rest measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0010409	triacylglycerol 50:2 measurement
EFO:0010404	triacylglycerol 48:1 measurement
EFO:0010405	triacylglycerol 48:2 measurement
EFO:0010410	triacylglycerol 50:3 measurement
EFO:0010400	triacylglycerol 46:0 measurement
EFO:0010401	triacylglycerol 46:1 measurement
EFO:0010403	triacylglycerol 48:0 measurement
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression, increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	decreases expression	1
Vorinostat	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Thimerosal	increases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases methylation	1
Cyclosporine	increases expression	1
Asbestos, Serpentine	increases expression	1

Clinical trials (associated diseases)

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