CPLX4

Summary

CPLX4 (complexin 4, HGNC:24330) is a protein-coding gene on chromosome 18q21.32, encoding Complexin-4 (Q7Z7G2). Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion.

This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis.

Source: NCBI Gene 339302 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 17 total
• GTEx eGene: eQTL in 2 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.73 (unconstrained)
• MANE Select transcript: NM_181654

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24330
Approved symbol	CPLX4
Name	complexin 4
Location	18q21.32
Locus type	gene with protein product
Status	Approved
Aliases	CPX-IV
Ensembl gene	ENSG00000166569
Ensembl biotype	protein_coding
OMIM	609586
Entrez	339302

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

MANE Select: ENST00000299721

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2

ENST00000299721, ENST00000587244, ENST00001131795

RefSeq mRNA: 1 — MANE Select: NM_181654 NM_181654

CCDS: CCDS11973

Canonical transcript exons

ENST00000299721 — 3 exons

Exon	Start	End
ENSE00001104260	59312685	59312772
ENSE00001104263	59318296	59318649
ENSE00001104265	59295402	59296925

Expression profiles

Bgee: expression breadth broad, 18 present calls, max score 81.23.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.2702 / max 2378.9175, expressed in 19 samples.

Highest expression (Bgee): male germ line stem cell (sensu Vertebrata) in testis, cerebellar cortex, cerebellum, cerebellar hemisphere, hemisphere of cerebellum.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CPLX4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 2 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

2 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Brain Cerebellum	eqtl	2.9e-02	+0.32	18:60023027:C:T
Brain Cerebellar Hemisphere	eqtl	3.4e-02	+0.30	18:59283565:T:G

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
172193	1.3741	14
172192	0.5667	10
172194	0.3294	12

Top tissues by expression

showing 100 of 114 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.23	gold quality
cerebellar cortex	UBERON:0002129	58.31	gold quality
cerebellum	UBERON:0002037	58.29	gold quality
cerebellar hemisphere	UBERON:0002245	57.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	57.73	gold quality
islet of Langerhans	UBERON:0000006	50.24	gold quality
colonic epithelium	UBERON:0000397	46.24	gold quality
sural nerve	UBERON:0015488	40.96	gold quality
bone marrow cell	CL:0002092	40.74	gold quality
ventricular zone	UBERON:0003053	40.10	gold quality
pancreas	UBERON:0001264	39.29	gold quality
granulocyte	CL:0000094	37.20	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
skeletal muscle tissue	UBERON:0001134	36.37	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
apex of heart	UBERON:0002098	35.40	gold quality
bone marrow	UBERON:0002371	35.23	gold quality
tonsil	UBERON:0002372	35.13	gold quality
muscle tissue	UBERON:0002385	34.51	gold quality
body of pancreas	UBERON:0001150	33.59	gold quality
lymph node	UBERON:0000029	32.80	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	32.63	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
leukocyte	CL:0000738	32.08	gold quality
endometrium	UBERON:0001295	32.02	gold quality
monocyte	CL:0000576	31.89	gold quality
blood	UBERON:0000178	30.91	gold quality
brain	UBERON:0000955	30.87	gold quality
calcaneal tendon	UBERON:0003701	30.86	gold quality
prefrontal cortex	UBERON:0000451	30.30	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
urinary bladder	UBERON:0001255	28.75	gold quality
thoracic aorta	UBERON:0001515	28.74	gold quality
right adrenal gland cortex	UBERON:0035827	28.74	gold quality
ascending aorta	UBERON:0001496	28.72	gold quality
cortex of kidney	UBERON:0001225	28.49	gold quality
corpus callosum	UBERON:0002336	28.49	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	28.39	silver quality
frontal cortex	UBERON:0001870	28.36	gold quality
popliteal artery	UBERON:0002250	28.32	gold quality
tibial artery	UBERON:0007610	28.32	gold quality
metanephros cortex	UBERON:0010533	28.19	gold quality
duodenum	UBERON:0002114	28.14	gold quality
placenta	UBERON:0001987	27.78	gold quality
material anatomical entity	UBERON:0000465	27.46	gold quality
multicellular organism	UBERON:0000468	27.46	gold quality
primary visual cortex	UBERON:0002436	27.43	gold quality
adrenal tissue	UBERON:0018303	27.31	gold quality
myometrium	UBERON:0001296	27.25	gold quality
right adrenal gland	UBERON:0001233	27.13	gold quality
adult mammalian kidney	UBERON:0000082	27.01	gold quality
adenohypophysis	UBERON:0002196	26.74	silver quality
spleen	UBERON:0002106	26.65	gold quality
heart left ventricle	UBERON:0002084	26.60	gold quality
Brodmann (1909) area 9	UBERON:0013540	26.55	gold quality
cerebral cortex	UBERON:0000956	26.48	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
rectum	UBERON:0001052	26.30	gold quality
right frontal lobe	UBERON:0002810	26.28	gold quality
right ovary	UBERON:0002118	26.26	gold quality
saliva-secreting gland	UBERON:0001044	26.03	gold quality
putamen	UBERON:0001874	26.00	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
heart	UBERON:0000948	25.95	gold quality
prostate gland	UBERON:0002367	25.79	gold quality
right lobe of thyroid gland	UBERON:0001119	25.75	gold quality
colon	UBERON:0001155	25.62	gold quality
skin of abdomen	UBERON:0001416	25.61	gold quality
intestine	UBERON:0000160	25.59	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	25.47	silver quality
muscle layer of sigmoid colon	UBERON:0035805	25.46	gold quality
minor salivary gland	UBERON:0001830	25.41	gold quality
small intestine	UBERON:0002108	25.28	gold quality
right lung	UBERON:0002167	25.09	gold quality
lung	UBERON:0002048	24.94	gold quality
body of uterus	UBERON:0009853	24.71	gold quality
uterine cervix	UBERON:0000002	24.65	gold quality
anterior cingulate cortex	UBERON:0009835	24.62	gold quality
thoracic mammary gland	UBERON:0005200	24.54	gold quality
ectocervix	UBERON:0012249	24.50	gold quality
lower esophagus	UBERON:0013473	24.46	gold quality
lower esophagus muscularis layer	UBERON:0035833	24.45	gold quality
adipose tissue	UBERON:0001013	24.41	gold quality
omental fat pad	UBERON:0010414	24.40	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	24.35	gold quality
caudate nucleus	UBERON:0001873	24.28	gold quality
subcutaneous adipose tissue	UBERON:0002190	24.27	gold quality
transverse colon	UBERON:0001157	24.18	gold quality
tibial nerve	UBERON:0001323	24.08	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
right atrium auricular region	UBERON:0006631	24.07	gold quality
esophagus	UBERON:0001043	24.02	gold quality
ovary	UBERON:0000992	23.98	gold quality
small intestine Peyer’s patch	UBERON:0003454	23.79	gold quality
left coronary artery	UBERON:0001626	23.76	gold quality
upper lobe of left lung	UBERON:0008952	23.46	gold quality
esophagus mucosa	UBERON:0002469	23.21	gold quality
thyroid gland	UBERON:0002046	23.15	gold quality
left ovary	UBERON:0002119	22.58	gold quality
left lobe of thyroid gland	UBERON:0001120	22.52	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	30.30
E-ANND-3	yes	3.26

HPA expression

RNA tissue specificity: Tissue enriched

35 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Retina	tissue	291.7	high
Superior colliculi	tissue	10.6
Choroid plexus	tissue	1.7
Cerebellum	tissue	1.6	low
Postcentral gyrus	tissue	0.9
Cerebral cortex	tissue	0.7	not detected
Motor cortex	tissue	0.7
Putamen	tissue	0.7
Hippocampal formation	tissue	0.7
Entorhinal cortex	tissue	0.7
Somatosensory cortex	tissue	0.7
Retrosplenial cortex	tissue	0.7
Amygdala	tissue	0.6
Retrosplenial and cingulate cortex	tissue	0.6
Septum	tissue	0.6
Temporal cortex	tissue	0.6
Pons	tissue	0.5
Basal ganglia	tissue	0.5	not detected
Midbrain	tissue	0.5
Hypothalamus	tissue	0.5
Hippocampus	tissue	0.5	not detected
Periaqueductal gray	tissue	0.5
Occipital cortex	tissue	0.5
Insular cortex	tissue	0.5
Prefrontal cortex	tissue	0.4
Nucleus accumbens	tissue	0.4
Locus coeruleus	tissue	0.4
Olfactory bulb	tissue	0.4
Thalamus	tissue	0.3
Substantia nigra	tissue	0.3
Ventral forebrain	tissue	0.3
Medulla oblongata	tissue	0.2
Spinal cord	tissue	0.2
Corpus callosum	tissue	0.2
Testis	tissue	0.1	not detected

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Cerebellar cortex (2.7), Flocculonodular lobe (2.7), Vermis (2.0), Supraoptic nucleus (1.8), Paraventricular nucleus (0.8).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CPLX4 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 65 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-6885-3P	99.75	70.36	3187
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-9851-3P	99.63	69.68	1110
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6861-3P	99.60	68.46	444
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-1264	99.25	66.81	1317

Functional genomics

gnomAD constraint: pLI 4.18e-06, LOEUF 1.73, missense Z 0.268 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000299721 — one region, missense o/e 1.00.

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	cplx4b	ENSDARG00000059486
danio_rerio	cplx4a	ENSDARG00000059978
mus_musculus	Cplx4	ENSMUSG00000024519
rattus_norvegicus	Cplx4	ENSRNOG00000016928
drosophila_melanogaster	cpx	FBGN0041605
caenorhabditis_elegans		WBGENE00010520
caenorhabditis_elegans	cpx-1	WBGENE00022271

Paralogs (3): CPLX2 (ENSG00000145920), CPLX1 (ENSG00000168993), CPLX3 (ENSG00000213578)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2685803) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 5 distinct phenotype terms.

Mouse phenotype (MP)	Records
increased circulating alanine transaminase level	1
abnormal rod electrophysiology	1
abnormal eye electrophysiology	1
decreased mean corpuscular hemoglobin	1
increased circulating total protein level	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q0IIE0	96.8%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
CCBE1	protein-coding	147372
LMAN1	protein-coding	3998
GRP	protein-coding	2922
RAX	protein-coding	30062
SEC11C	protein-coding	90701

Protein

Protein identifiers

Complexin-4 — Q7Z7G2 (reviewed: Q7Z7G2)

Alternative names: Complexin IV

All UniProt accessions (2): Q7Z7G2, K7EM04

UniProt curated annotations — full annotation on UniProt →

Function. Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion. Required for the maintenance of synaptic ultrastructure in the adult retina. Positively regulates synaptic transmission through synaptic vesicle availability and exocytosis of neurotransmitters at photoreceptor ribbon synapses in the retina. Suppresses tonic photoreceptor activity and baseline ’noise’ by suppression of Ca(2+) vesicle tonic release and the facilitation of evoked synchronous and asynchronous Ca(2+) vesicle release.

Subunit / interactions. Weakly binds to the SNARE core complex containing SNAP25, VAMP2 and STX1A.

Subcellular location. Synapse. Cell membrane.

Post-translational modifications. Farnesylation mediates presynaptic targeting and is important for function in neurotransmitter release.

Similarity. Belongs to the complexin/synaphin family.

RefSeq proteins (1): NP_857637* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008849	Synaphin	Family

Pfam: PF05835

UniProt features (6 total): chain 1, propeptide 1, region of interest 1, compositionally biased region 1, modified residue 1, lipid moiety-binding region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7G2-F1	74.26	0.19

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

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 (2)

Type	Positions
Cysteine methyl ester	157
S-farnesyl cysteine	157

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 72 (showing top): GOBP_REGULATION_OF_VESICLE_FUSION, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, GOBP_VESICLE_FUSION_TO_PLASMA_MEMBRANE, GOBP_ORGANELLE_MEMBRANE_FUSION, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_REGULATION_OF_NEUROTRANSMITTER_TRANSPORT, GOBP_SECRETION, GOBP_SIGNAL_RELEASE, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION

GO Biological Process (6): visual perception (GO:0007601), synaptic vesicle exocytosis (GO:0016079), regulation of synaptic vesicle fusion to presynaptic active zone membrane (GO:0031630), modulation of chemical synaptic transmission (GO:0050804), neurotransmitter transport (GO:0006836), exocytosis (GO:0006887)

GO Molecular Function (3): SNARE binding (GO:0000149), syntaxin binding (GO:0019905), protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), SNARE complex (GO:0031201), terminal bouton (GO:0043195), synapse (GO:0045202)

GO top-level categories

26 GO namespaces:

Category	Terms
presynapse	2
sensory perception of light stimulus	1
neurotransmitter secretion	1
regulated exocytosis	1
establishment of localization in cell	1
vesicle-mediated transport in synapse	1
synaptic vesicle cycle	1
signal release from synapse	1
regulation of vesicle fusion	1
synaptic vesicle fusion to presynaptic active zone membrane	1
regulation of synaptic vesicle membrane organization	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
transport	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
protein binding	1
SNARE binding	1
binding	1
membrane	1
cell periphery	1
cytoplasm	1
membrane protein complex	1
axon terminus	1
cell junction	1

Protein interactions and networks

STRING

showing 15 of 634 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CPLX4	VAMP1	P23763	791
CPLX4	STX1A	Q16623	733
CPLX4	SNAP25	P13795	710
CPLX4	CPLX1	O14810	645
CPLX4	P84086	P84086	600
CPLX4	CABCOCO1	Q8IVU9	504
CPLX4	STARD6	P59095	488
CPLX4	CCDC146	Q8IYE0	477
CPLX4	TERB1	Q8NA31	472
CPLX4	CRX	O43186	467
CPLX4	LMAN1	P49257	467
CPLX4	SNPH	O15079	467
CPLX4	CCDC68	Q9H2F9	461
CPLX4	OTX2	P32243	460
CPLX4	ABHD14A	Q9BUJ0	449

IntAct

Human interaction partners of CPLX4 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 93 partners by confidence:

Partner	Interaction type	MIscore	Records
ADIPOQ	physical association	0.560	3
AGTRAP	physical association	0.560	3
AIG1	physical association	0.560	3
AOC3	physical association	0.560	3
APOD	physical association	0.560	3
AQP1	physical association	0.560	3
AQP9	physical association	0.560	3
ASGR1	physical association	0.560	3
ATP6V0C	physical association	0.560	3
BNIP2	physical association	0.560	3
C5	physical association	0.560	3
CACNG1	physical association	0.560	3
CCL4L1	physical association	0.560	3
CD81	physical association	0.560	3
CDIPT	physical association	0.560	3
CDS2	physical association	0.560	3
CLDND2	physical association	0.560	3
CLEC4G	physical association	0.560	3
CLN6	physical association	0.560	3
CMTM5	physical association	0.560	3
CNIH1	physical association	0.560	3
CTXN3	physical association	0.560	3
CYB5B	physical association	0.560	3
CYBC1	physical association	0.560	3
CYP4F2	physical association	0.560	3
DEFB127	physical association	0.560	3
EMD	physical association	0.560	3
GAD2	physical association	0.560	3
GIMAP1	physical association	0.560	3
GRM2	physical association	0.560	3

BioGRID (117 interactions; top human partners by supporting records): ACTA2 (Affinity Capture-MS; 2 records), CBX5 (Affinity Capture-MS; 2 records), CST1 (Affinity Capture-MS; 2 records), EFHD1 (Affinity Capture-MS; 2 records), IPPK (Affinity Capture-MS; 2 records), MAPK3 (Affinity Capture-MS; 2 records), MICU2 (Affinity Capture-MS; 2 records), SPTB (Affinity Capture-MS; 2 records), ADIPOQ (Two-hybrid), AGTRAP (Two-hybrid), AIG1 (Two-hybrid), AOC3 (Two-hybrid), APOD (Two-hybrid), AQP1 (Two-hybrid), AQP9 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for CPLX4: 17 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 147):

Position(s)	Effect	Δscore	Sites
18:59296928	acceptor_gain	1.0000
18:59296926–59296927	acceptor_loss	0.9900	6
18:59296930	acceptor_gain	0.9900
18:59312683–59312684	donor_loss	0.9800	5
18:59312683	donor_loss	0.9700
18:59312773–59312774	acceptor_loss	0.9600	6
18:59318294–59318295	donor_loss	0.9600	5
18:59318291	donor_loss	0.9500	2
18:59318294	donor_loss	0.9500
18:59312780	acceptor_loss	0.9400

AlphaMissense

332 missense substitutions predicted likely pathogenic (of 1,096 scored), across 105 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D89	8	0.980	0.995
R70	7	0.959	0.996
F63	7	0.904	0.975
M40	7	0.863	0.975
C157	7	0.839	0.962
R74	6	0.982	0.997
R78	6	0.979	0.997
K80	6	0.977	0.989
Y81	6	0.934	0.988
R59	6	0.919	0.990
M109	6	0.898	0.965
K67	6	0.896	0.954
G39	6	0.875	0.959
M160	6	0.834	0.885
P103	6	0.831	0.916
D60	6	0.830	0.933
R82	6	0.796	0.881
E44	6	0.752	0.846
Y48	5	0.909	0.969
A71	5	0.894	0.993

HPA cancer prognostics

RNA cancer specificity: Not detected

Disease associations

OMIM: gene MIM:609586 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST006976_20	Macular thickness	7e-24
GCST008309_9	Cardiac troponin-I levels	1e-11
GCST003837_7	Chronotype	7e-10
GCST003838_15	Morning vs. evening chronotype	1e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0010071	cardiac troponin I measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, affects cotreatment	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	increases methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	increases methylation	1
Lead	affects expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.