CCNL1

Summary

CCNL1 (cyclin L1, HGNC:20569) is a protein-coding gene on chromosome 3q25.31, encoding Cyclin-L1 (Q9UK58). Regulatory component of the cyclin-L-CDK11 complex that regulates transcription and pre-mRNA splicing. It is a selective cancer dependency (DepMap: 60.8% of cell lines).

Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Involved in regulation of RNA splicing. Located in nucleus. Part of cyclin-dependent protein kinase holoenzyme complex.

Source: NCBI Gene 57018 — RefSeq curated summary.

At a glance

• GWAS associations: 66
• Clinical variants (ClinVar): 66 total
• Cancer dependency (DepMap): dependent in 60.8% of screened cell lines
• MANE Select transcript: NM_020307

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20569
Approved symbol	CCNL1
Name	cyclin L1
Location	3q25.31
Locus type	gene with protein product
Status	Approved
Aliases	ania-6a
Ensembl gene	ENSG00000163660
Ensembl biotype	protein_coding
OMIM	613384
Entrez	57018

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 16 retained_intron, 6 protein_coding, 6 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000295925, ENST00000295926, ENST00000461804, ENST00000464316, ENST00000464575, ENST00000464679, ENST00000465947, ENST00000466101, ENST00000467081, ENST00000467849, ENST00000468977, ENST00000470121, ENST00000471044, ENST00000471247, ENST00000474539, ENST00000475298, ENST00000476367, ENST00000476744, ENST00000477127, ENST00000478454, ENST00000479052, ENST00000479596, ENST00000481173, ENST00000483789, ENST00000495471, ENST00000631619, ENST00000871090, ENST00000961332, ENST00000961333

RefSeq mRNA: 2 — MANE Select: NM_020307 NM_001308185, NM_020307

CCDS: CCDS3178, CCDS77847

Canonical transcript exons

ENST00000295926 — 11 exons

Exon	Start	End
ENSE00001847191	157159792	157160147
ENSE00001899024	157147553	157148589
ENSE00003460346	157153036	157153156
ENSE00003542821	157149836	157149977
ENSE00003550210	157158866	157158975
ENSE00003568882	157149485	157149596
ENSE00003594576	157159405	157159479
ENSE00003618283	157152177	157152241
ENSE00003620915	157150282	157150381
ENSE00003666467	157150065	157150169
ENSE00003671288	157149287	157149385

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4838 / max 385.2168, expressed in 1808 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45287	110.2871	1825
45288	10.7661	1766
45289	2.8361	1297
45290	1.5649	931
45294	0.9301	361
45293	0.4774	167
45286	0.3846	148
45281	0.3057	91
45282	0.2680	118
45283	0.1934	64

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	99.27	gold quality
granulocyte	CL:0000094	99.19	gold quality
left uterine tube	UBERON:0001303	99.13	gold quality
monocyte	CL:0000576	99.08	gold quality
mononuclear cell	CL:0000842	99.03	gold quality
omental fat pad	UBERON:0010414	99.03	gold quality
peritoneum	UBERON:0002358	99.02	gold quality
left ovary	UBERON:0002119	98.90	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.87	gold quality
right ovary	UBERON:0002118	98.84	gold quality
right lung	UBERON:0002167	98.83	gold quality
skin of abdomen	UBERON:0001416	98.77	gold quality
left lobe of thyroid gland	UBERON:0001120	98.75	gold quality
leukocyte	CL:0000738	98.69	gold quality
adenohypophysis	UBERON:0002196	98.69	gold quality
upper lobe of left lung	UBERON:0008952	98.66	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.63	gold quality
right lobe of thyroid gland	UBERON:0001119	98.61	gold quality
nerve	UBERON:0001021	98.52	gold quality
tibial nerve	UBERON:0001323	98.52	gold quality
right uterine tube	UBERON:0001302	98.51	gold quality
body of pancreas	UBERON:0001150	98.48	gold quality
thyroid gland	UBERON:0002046	98.43	gold quality
spleen	UBERON:0002106	98.39	gold quality
calcaneal tendon	UBERON:0003701	98.37	gold quality
minor salivary gland	UBERON:0001830	98.35	gold quality
body of uterus	UBERON:0009853	98.31	gold quality
gall bladder	UBERON:0002110	98.22	gold quality
right lobe of liver	UBERON:0001114	98.20	gold quality
transverse colon	UBERON:0001157	98.20	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8884	yes	1584.62
E-HCAD-4	yes	36.64
E-MTAB-10287	yes	32.18
E-CURD-122	yes	25.69
E-MTAB-6379	no	4090.46
E-CURD-55	no	1968.48
E-MTAB-7381	no	665.37
E-MTAB-6911	no	264.62
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

69 targeting CCNL1, 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-3163	100.00	77.23	8605
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-216A-5P	99.50	68.02	1288
HSA-MIR-8054	99.48	70.81	2084

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 60.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 17)

• Cyclin L has been shown to associate with the PITSLRE kinase and is involved in pre-mRNA processing. (PMID:11980906)
• role in pre-mRNA splicing (PMID:11980906)
• Our results indicate that CCNL1 plays a critical role in the loco-regional progression of HNSCC and may serve as an indicator for occult advanced tumour stages. (PMID:15700036)
• study suggests that cyclin l1 may have a role in RNA processing complex anc ould participate in tumor progression of head and neck squamous cell carcinoma (PMID:16598186)
• Data show that a green fluorescent protein (GFP) fusion protein of cyclin L1, in contrast to cyclin L2, was not mobile within the nucleus of living COS7 cells. (PMID:17494991)
• CDK11(p110) interacts physically and functionally with cyclin Lalpha and -beta isoforms and SR proteins to regulate splicing. (PMID:18216018)
• variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight (PMID:20372150)
• Cyclin L1 amplification is associated with uterine cervical carcinoma. (PMID:20721974)
• Our results suggest that a genetic variant of ccnl1 leads to symmetric growth restriction from early pregnancy onward (PMID:21307140)
• These data demonstrate that there is a fine balance between CCNL1 and TIMP1, which may contribute to breast cancer development. (PMID:21586274)
• Data show low birth weight in Asian Indians is not due to variation near CCNL1/ADCY5, but variant ADCY5 is associated with elevated glucose/decreased insulin response which suggests a common genetic cause of low birth weight and risk of type 2 diabetes. (PMID:21712988)
• birth weight lowering effect of the C-allele of rs900400 located near LEKR1 and CCNL1 was replicated in the Danish population. Furthermore the C-allele was associated with increased insulin response following oral glucose stimulation (PMID:22073261)
• Data indicate that if the newborn carried a risk allele rs900400 near LEKR/CCNL1, the impact of stress on birth size was stronger. (PMID:22685556)
• CCNL1 is the target gene of miR-199b-5p. (PMID:26043836)
• Results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms influence the development of diabetic retinopathy (DR). (PMID:27607899)
• MiR-5195-3p functions as a tumor suppressor in prostate cancer via targeting CCNL1. (PMID:35260070)
• SCF[FBXW7] regulates G2-M progression through control of CCNL1 ubiquitination. (PMID:36278408)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccnl1a	ENSDARG00000055124
mus_musculus	Ccnl1	ENSMUSG00000027829
rattus_norvegicus	Ccnl1	ENSRNOG00000011586
drosophila_melanogaster	CycH	FBGN0022936
drosophila_melanogaster	CycT	FBGN0025455
caenorhabditis_elegans		WBGENE00000507
caenorhabditis_elegans		WBGENE00000508
caenorhabditis_elegans		WBGENE00021714

Paralogs (6): CCNT2 (ENSG00000082258), CCNK (ENSG00000090061), CCNT1 (ENSG00000129315), CCNH (ENSG00000134480), CCNL2 (ENSG00000221978), CCNQ (ENSG00000262919)

Protein

Protein identifiers

Cyclin-L1 — Q9UK58 (reviewed: Q9UK58)

All UniProt accessions (2): Q9UK58, H7C4G1

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory component of the cyclin-L-CDK11 complex that regulates transcription and pre-mRNA splicing. Inhibited by the CDK-specific inhibitor CDKN1A/p21. May be a candidate proto-oncogene in head and neck squamous cell carcinomas (HNSCC).

Subunit / interactions. (Microbial infection) Interacts with human herpes virus 1 (HHV-1) transcriptional regulator ICP22. Interacts with the CDK11 (CDK11A or CDK11B) protein kinase to form a serine/threonine kinase holoenzyme complex. Interacts with SAP30BP; promoting assenbly of the cyclin-L-CDK11 cyclin-dependent protein kinase complex. Interacts with POLR2A via its hyperphosphorylated C-terminal domain (CTD). Interacts with CDK11A, CDK12 and CDK13. May form a ternary complex with CDK11B and casein kinase II (CKII). Interacts with pre-mRNA-splicing factors, including SRSF1, SRSF2 and SRSF7/SLU7.

Subcellular location. Nucleus speckle. Nucleus. Nucleoplasm.

Tissue specificity. Widely expressed. Overexpression in primary tumors of head and neck squamous cell carcinomas (HNSCC).

Domain organisation. Contains a RS region (arginine-serine dipeptide repeat) within the C-terminal domain which is the hallmark of the SR family of splicing factors. This region probably plays a role in protein-protein interactions.

Miscellaneous. CCNL1 is amplified in several HNSCC. May play a critical role in the formation of loco-regional metastases and an unfavorable clinical outcome of HNSCC. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the cyclin family. Cyclin L subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9UK58-1	1, Cyclin L alpha, cyclin L1alpha	yes
Q9UK58-4	2, Cyclin L beta, cyclin L1beta
Q9UK58-5	3, Cyclin L gamma, cyclin L1gamma
Q9UK58-6	4

RefSeq proteins (2): NP_001295114, NP_064703* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004367	Cyclin_C-dom	Domain
IPR006671	Cyclin_N	Domain
IPR013763	Cyclin-like_dom	Domain
IPR036915	Cyclin-like_sf	Homologous_superfamily
IPR043198	Cyclin/Ssn8	Family

Pfam: PF00134, PF21797

UniProt features (32 total): compositionally biased region 8, modified residue 7, splice variant 6, region of interest 5, cross-link 3, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UK58-F1	68.90	0.43

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): 325, 335, 338, 352, 355, 374, 445, 339, 347, 362

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 320 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, MODULE_255, LFA1_Q6, MATTIOLI_MGUS_VS_PCL, MODULE_317, TATTATA_MIR374, NAGASHIMA_NRG1_SIGNALING_UP, CEBPB_01, BILD_HRAS_ONCOGENIC_SIGNATURE, MARTINEZ_RB1_TARGETS_UP, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GOBP_REGULATION_OF_CELL_CYCLE, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, GOBP_REGULATION_OF_CENTROSOME_CYCLE

GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), regulation of apoptotic process (GO:0042981), regulation of RNA splicing (GO:0043484), regulation of centrosome cycle (GO:0046605), regulation of cell cycle (GO:0051726)

GO Molecular Function (2): cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538), protein binding (GO:0005515)

GO Cellular Component (4): cyclin-dependent protein kinase holoenzyme complex (GO:0000307), nucleus (GO:0005634), nuclear speck (GO:0016607), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
apoptotic process	1
regulation of programmed cell death	1
RNA splicing	1
regulation of gene expression	1
regulation of primary metabolic process	1
centrosome cycle	1
regulation of cell cycle process	1
regulation of microtubule-based process	1
regulation of cellular component organization	1
cell cycle	1
regulation of cellular process	1
cyclin-dependent protein serine/threonine kinase activity	1
cyclin-dependent protein kinase regulator activity	1
binding	1
serine/threonine protein kinase complex	1
intracellular membrane-bounded organelle	1
nuclear ribonucleoprotein granule	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

804 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCNL1	CDK19	Q9BWU1	980
CCNL1	CDK11A	Q9UQ88	901
CCNL1	SRSF2	Q01130	646
CCNL1	CDK12	Q9NYV4	634
CCNL1	CDK11B	P21127	603
CCNL1	CDK13	Q14004	583
CCNL1	TFIP11	Q9UBB9	583
CCNL1	CYLC1	P35663	578
CCNL1	POLR2A	P24928	536
CCNL1	CDK10	Q15131	502
CCNL1	CDK9	P50750	499
CCNL1	DRD1	P21728	497
CCNL1	H1-0	P07305	492
CCNL1	ZNF276	Q8N554	474
CCNL1	KRCC1	Q9NPI7	444

IntAct

94 interactions, top by confidence:

A	B	Type	Score
SAP30BP	CCNL1	psi-mi:“MI:0915”(physical association)	0.740
RNPS1	CCNL1	psi-mi:“MI:0915”(physical association)	0.740
CSNK2B	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
CCNL1	JMJD6	psi-mi:“MI:0915”(physical association)	0.660
CSNK2A2	PES1	psi-mi:“MI:0914”(association)	0.640
APPBP2	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
TFIP11	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
CCNL1	APPBP2	psi-mi:“MI:0915”(physical association)	0.560
CCNL1	TFIP11	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-2	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
DVL3	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
SORBS3	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
PRDM6	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
ZRANB1	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
NKAPD1	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
CASP8	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
FAM133A	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
PRPF40A	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
MMTAG2	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
RAD51D	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
ZRSR2	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
SREK1IP1	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
RSRP1	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
CCNL1	CDK11B	psi-mi:“MI:0914”(association)	0.530
LRRTM4	AP3B1	psi-mi:“MI:0914”(association)	0.530
CDK11A	CCNL1	psi-mi:“MI:0915”(physical association)	0.400
	CCNL1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (87): CCNL1 (Two-hybrid), CCNL1 (Two-hybrid), CCNL1 (Affinity Capture-MS), CCNL1 (Affinity Capture-MS), CCNL1 (Affinity Capture-MS), CCNL1 (Affinity Capture-MS), CCNL1 (Affinity Capture-MS), CCNL1 (Proximity Label-MS), CCNL1 (Positive Genetic), CCNL1 (Affinity Capture-Western), CCNL1 (Affinity Capture-MS), CCNL1 (Two-hybrid), CCNL1 (Two-hybrid), CCNL1 (Two-hybrid), CCNL1 (Two-hybrid)

ESM2 similar proteins: A7DTF0, A8X0L9, C8VBH4, G5EBX3, O94446, P0CP02, P0CP03, P14785, P34424, P34425, P34442, P34638, P54816, Q06698, Q19336, Q20318, Q21209, Q22712, Q23243, Q23356, Q23357, Q23541, Q2UMQ5, Q2UTN6, Q4IB50, Q4IEV4, Q4P3S3, Q4WHG1, Q52KE7, Q5A7Q2, Q5ASA5, Q5BKF8, Q5I0H5, Q5ZJP9, Q61T02, Q6AW06, Q6BU95, Q6C710, Q6GN15, Q7RZU4

Diamond homologs: A3LPX1, F1QMB9, O60563, O60583, O74627, O75909, O88874, O96433, P24863, P47821, P55168, Q0E474, Q28F72, Q2QQS5, Q2RAC5, Q3ZCK5, Q4KLA0, Q52KE7, Q56YF8, Q5I0H5, Q5RD50, Q5ZJP9, Q62447, Q6GN15, Q6T8E9, Q6Z7H3, Q7TQK0, Q7ZVX0, Q8GYM6, Q8HXN7, Q8RWV3, Q96S94, Q9AS36, Q9C8P7, Q9FKE6, Q9JJA7, Q9QWV9, Q9R1Q2, Q9UK58, Q9XT26

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 57 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
RNA splicing	7	12.9×	4e-04
regulation of cell cycle	6	9.3×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1844 predictions. Top by Δscore:

Variant	Effect	Δscore
3:157149279:TTAC:T	donor_loss	1.0000
3:157149280:TACT:T	donor_loss	1.0000
3:157149281:A:AC	donor_gain	1.0000
3:157149281:ACTT:A	donor_loss	1.0000
3:157149282:C:CC	donor_gain	1.0000
3:157149282:CTT:C	donor_loss	1.0000
3:157149284:TACT:T	donor_loss	1.0000
3:157149285:A:AC	donor_gain	1.0000
3:157149285:AC:A	donor_loss	1.0000
3:157149285:ACTGT:A	donor_gain	1.0000
3:157149286:C:CT	donor_gain	1.0000
3:157149286:C:G	donor_loss	1.0000
3:157149286:CT:C	donor_gain	1.0000
3:157149286:CTGT:C	donor_gain	1.0000
3:157149286:CTGTC:C	donor_gain	1.0000
3:157149381:T:TC	acceptor_gain	1.0000
3:157149382:TACA:T	acceptor_gain	1.0000
3:157149383:ACA:A	acceptor_gain	1.0000
3:157149384:CA:C	acceptor_gain	1.0000
3:157149384:CAC:C	acceptor_gain	1.0000
3:157149386:C:CC	acceptor_gain	1.0000
3:157149389:C:CT	acceptor_gain	1.0000
3:157149481:TCA:T	donor_loss	1.0000
3:157149482:CAC:C	donor_loss	1.0000
3:157149483:A:AC	donor_gain	1.0000
3:157149483:AC:A	donor_gain	1.0000
3:157149483:ACC:A	donor_gain	1.0000
3:157149484:C:CA	donor_gain	1.0000
3:157149484:CC:C	donor_gain	1.0000
3:157149484:CCC:C	donor_gain	1.0000

AlphaMissense

3418 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:157150145:A:G	W267R	1.000
3:157150145:A:T	W267R	1.000
3:157150301:A:G	L252P	1.000
3:157150313:G:T	A248D	1.000
3:157150319:G:T	A246E	1.000
3:157150367:T:A	D230V	1.000
3:157150367:T:C	D230G	1.000
3:157150367:T:G	D230A	1.000
3:157150368:C:G	D230H	1.000
3:157150369:A:C	N229K	1.000
3:157150369:A:T	N229K	1.000
3:157150381:C:A	W225C	1.000
3:157150381:C:G	W225C	1.000
3:157152178:A:G	W225R	1.000
3:157152178:A:T	W225R	1.000
3:157152180:G:T	A224D	1.000
3:157152181:C:G	A224P	1.000
3:157153041:G:C	H202D	1.000
3:157153043:G:T	P201H	1.000
3:157153058:A:T	V196D	1.000
3:157153063:A:C	F194L	1.000
3:157153063:A:T	F194L	1.000
3:157153064:A:C	F194C	1.000
3:157153064:A:G	F194S	1.000
3:157153065:A:C	F194V	1.000
3:157153065:A:G	F194L	1.000
3:157153065:A:T	F194I	1.000
3:157153067:C:A	G193V	1.000
3:157153067:C:T	G193E	1.000
3:157153068:C:G	G193R	1.000

dbSNP variants (sampled 300 via entrez): RS1000009349 (3:157149099 A>G), RS1000091104 (3:157156807 A>G,T), RS1000175582 (3:157145191 C>A), RS1000438962 (3:157159759 A>T), RS1000491333 (3:157159613 G>A,T), RS1000510002 (3:157143914 T>C), RS1000674054 (3:157150309 G>A), RS1000818493 (3:157158180 T>C), RS1000887728 (3:157150482 CTTAT>C), RS1000917248 (3:157150829 CAG>C), RS1001033212 (3:157150823 C>T), RS1001154372 (3:157143903 G>A), RS1001180247 (3:157146455 C>G), RS1001241280 (3:157158000 A>G), RS1001287340 (3:157157724 G>A,C,T)

Disease associations

OMIM: gene MIM:613384 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

66 associations (top):

Study	Trait	p-value
GCST000648_1	Birth weight	2.000000e-35
GCST001017_10	Diabetic retinopathy	7.000000e-07
GCST001108_7	Smoking cessation in chronic obstructive pulmonary disease	5.000000e-06
GCST001644_2	Eating disorders	3.000000e-06
GCST001758_1	Birth weight	4.000000e-38
GCST001964_1	Anthropometric traits in newborns	3.000000e-19
GCST001964_2	Anthropometric traits in newborns	2.000000e-13
GCST001964_3	Anthropometric traits in newborns	4.000000e-09
GCST001964_4	Anthropometric traits in newborns	6.000000e-07
GCST001964_5	Anthropometric traits in newborns	9.000000e-06
GCST002541_5	Menarche (age at onset)	2.000000e-11
GCST003367_3	circulating leptin levels	6.000000e-09
GCST003367_8	circulating leptin levels	3.000000e-06
GCST003368_3	circulating leptin levels adjusted for BMI	1.000000e-07
GCST003368_7	circulating leptin levels adjusted for BMI	9.000000e-06
GCST004289_3	Adiponectin levels in pregnancy	1.000000e-07
GCST005146_1	Birth weight	1.000000e-42
GCST005951_143	Body mass index	4.000000e-08
GCST007045_24	PR interval	7.000000e-11
GCST008362_212	Birth weight	2.000000e-82
GCST008363_36	Offspring birth weight	2.000000e-13
GCST009105_4	Body fat percentage variance	2.000000e-09
GCST009116_1	Birth weight variance	1.000000e-09
GCST009128_1	Birth weight	6.000000e-48
GCST010321_129	PR interval	1.000000e-51
GCST010796_2736	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_2803	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_2804	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-12
GCST010796_2805	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-13
GCST010796_2806	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-13

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight
EFO:0004319	smoking cessation
EFO:0006266	sum of skinfolds
EFO:0004703	age at menarche
EFO:0005000	leptin measurement
EFO:0007793	BMI-adjusted leptin measurement
EFO:0004502	adiponectin measurement
EFO:0004340	body mass index
EFO:0004462	PR interval
EFO:0005939	parental genotype effect measurement
EFO:0007800	body fat percentage
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Formaldehyde	decreases expression, increases expression	3
Valproic Acid	affects expression, decreases expression, decreases methylation	3
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, affects expression	2
Ozone	affects cotreatment, decreases expression, increases abundance, affects expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
methylmercuric chloride	decreases expression, increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
bisphenol A	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	increases expression, affects cotreatment	1
polyhexamethyleneguanidine	increases expression	1
di-n-butylphosphoric acid	affects expression	1
mono(2-ethyl-5-oxohexyl)phthalate	affects expression	1
pentabromodiphenyl ether	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1

Clinical trials (associated diseases)

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