KERA

Summary

KERA (keratocan, HGNC:6309) is a protein-coding gene on chromosome 12q21.33, encoding Keratocan (O60938). May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.

The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).

Source: NCBI Gene 11081 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cornea plana (Definitive, GenCC) — +2 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 97 total — 10 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 10
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_007035

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6309
Approved symbol	KERA
Name	keratocan
Location	12q21.33
Locus type	gene with protein product
Status	Approved
Aliases	SLRR2B
Ensembl gene	ENSG00000139330
Ensembl biotype	protein_coding
OMIM	603288
Entrez	11081

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000266719

RefSeq mRNA: 1 — MANE Select: NM_007035 NM_007035

CCDS: CCDS9037

Canonical transcript exons

ENST00000266719 — 3 exons

Exon	Start	End
ENSE00001143165	91057744	91058024
ENSE00001151453	91050491	91051518
ENSE00001380994	91055396	91056289

Expression profiles

Bgee: expression breadth broad, 85 present calls, max score 89.49.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4317 / max 160.6761, expressed in 26 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132537	0.2310	21
132541	0.0655	12
132534	0.0347	9
132539	0.0266	10
132536	0.0231	6
132542	0.0171	8
132538	0.0160	10
132540	0.0115	5
132535	0.0062	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	89.49	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.10	gold quality
tendon	UBERON:0000043	78.06	gold quality
cartilage tissue	UBERON:0002418	77.70	gold quality
synovial joint	UBERON:0002217	62.75	gold quality
tendon of biceps brachii	UBERON:0008188	60.76	silver quality
layer of synovial tissue	UBERON:0007616	60.51	silver quality
gall bladder	UBERON:0002110	60.33	gold quality
lower lobe of lung	UBERON:0008949	56.63	silver quality
tibialis anterior	UBERON:0001385	55.30	silver quality
trachea	UBERON:0003126	54.20	silver quality
penis	UBERON:0000989	53.67	silver quality
hair follicle	UBERON:0002073	53.28	gold quality
urethra	UBERON:0000057	53.16	silver quality
ileal mucosa	UBERON:0000331	52.17	silver quality
superior surface of tongue	UBERON:0007371	50.71	silver quality
thoracic mammary gland	UBERON:0005200	50.51	gold quality
mammary gland	UBERON:0001911	50.35	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
epithelial cell of pancreas	CL:0000083	49.09	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
oviduct epithelium	UBERON:0004804	48.72	gold quality
vastus lateralis	UBERON:0001379	48.68	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting KERA, 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-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-3128	99.50	67.85	1258

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 14)

• KERA mutation is associated with autosomal recessive cornea plana (PMID:15370545)
• This is the first report of the identification of a mutation within KERA in a family of Hispanic origin with autosomal recessive cornea plana. (PMID:16157807)
• No evidence that endothelial dysfunction and germline mutation of lumican and keratocan genes participate in the etiology of subepithelial corneal haze. (PMID:16760896)
• Specific for mutation in KERA, the ophthalmic phenotype of recessive cornea plana does not significantly vary with different KERA mutations. (PMID:17011957)
• In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis. (PMID:17558846)
• This is the first description of recessive cornea plana in a white British family and it is the second report on the p.N247S change in the KERA gene. (PMID:17679937)
• Multiple core-protein species were detected for decorin, biglycan, lumican and keratocan in the degenerate osteoarthritic articular cartilage and menisci. (PMID:18620607)
• Linkage and haplotype analyses identified 12q21.33 as a locus for posterior amorphous corneal dystrophy. However, no mutations were identified in the candidate genes (KERA, LUM, DCN, EPYC) within this region. (PMID:20357198)
• Corneal endothelial disorders were found with compound mutations in KERA (PMID:23834557)
• rare variant in KERA was identified in a large kindred with premature atherosclerosis (PMID:24879339)
• The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease. (PMID:25967529)
• a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form. (PMID:26099342)
• KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana (PMID:28677912)
• We expand the phenotypic spectrum of biallelic KERA mutations in this report of a boy with juvenile corneal ectasia who was found to harbor an underlying novel homozygous mutation in the gene. (PMID:28799822)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kera	ENSDARG00000056938
mus_musculus	Kera	ENSMUSG00000019932
rattus_norvegicus	Kera	ENSRNOG00000004635

Paralogs (10): EPYC (ENSG00000083782), OGN (ENSG00000106809), ECM2 (ENSG00000106823), FMOD (ENSG00000122176), OMG (ENSG00000126861), OMD (ENSG00000127083), LUM (ENSG00000139329), PRELP (ENSG00000188783), LINGO4 (ENSG00000213171), LINGO3 (ENSG00000220008)

Protein

Protein identifiers

Keratocan — O60938 (reviewed: O60938)

Alternative names: Keratan sulfate proteoglycan keratocan

All UniProt accessions (1): O60938

UniProt curated annotations — full annotation on UniProt →

Function. May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Cornea (at protein level). Increased expression in the stroma of keratoconus corneas. Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen.

Post-translational modifications. Binds keratan sulfate chains.

Disease relevance. Cornea plana 2, autosomal recessive (CNA2) [MIM:217300] A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.

RefSeq proteins (1): NP_008966* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000372	LRRNT	Domain
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050333	SLRP	Family

Pfam: PF01462, PF13516, PF13855

UniProt features (23 total): repeat 10, glycosylation site 4, disulfide bond 3, sequence variant 3, signal peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60938-F1	87.42	0.75

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (3): 42–48, 46–58, 303–343

Glycosylation sites (4): 93, 167, 222, 298

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-2022854	Keratan sulfate biosynthesis
R-HSA-2022857	Keratan sulfate degradation
R-HSA-3656225	Defective CHST6 causes MCDC1
R-HSA-3656243	Defective ST3GAL3 causes MCT12 and EIEE15
R-HSA-3656244	Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
R-HSA-1430728	Metabolism
R-HSA-1630316	Glycosaminoglycan metabolism
R-HSA-1638074	Keratan sulfate/keratin metabolism
R-HSA-1643685	Disease
R-HSA-3560782	Diseases associated with glycosaminoglycan metabolism
R-HSA-3781865	Diseases of glycosylation
R-HSA-5668914	Diseases of metabolism
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives

MSigDB gene sets: 104 (showing top): TAL1ALPHAE47_01, MARTINEZ_RB1_TARGETS_DN, YY1_02, chr12q21, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, TGGNNNNNNKCCAR_UNKNOWN, GOBP_SENSORY_PERCEPTION, GOBP_SENSORY_ORGAN_DEVELOPMENT, SOX5_01, NKX3A_01, TAL1BETAE47_01, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, TGGAAA_NFAT_Q4_01, GOCC_LYSOSOMAL_LUMEN, GOCC_VACUOLAR_LUMEN

GO Biological Process (2): visual perception (GO:0007601), cornea development in camera-type eye (GO:0061303)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), extracellular matrix (GO:0031012), lysosomal lumen (GO:0043202)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Diseases associated with glycosaminoglycan metabolism	3
Keratan sulfate/keratin metabolism	2
Metabolism of carbohydrates and carbohydrate derivatives	1
Glycosaminoglycan metabolism	1
Diseases of glycosylation	1
Diseases of metabolism	1
Disease	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sensory perception of light stimulus	1
camera-type eye development	1
anatomical structure development	1
binding	1
cellular anatomical structure	1
Golgi apparatus	1
intracellular organelle lumen	1
external encapsulating structure	1
lysosome	1
vacuolar lumen	1

Protein interactions and networks

STRING

1146 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KERA	CXCL1	P09341	839
KERA	PPP3CA	Q08209	800
KERA	ALDH3A1	P30838	760
KERA	CHST6	Q9GZX3	728
KERA	CHST1	O43916	727
KERA	CHST3	Q7LGC8	691
KERA	KRT12	Q99456	680
KERA	OGN	P20774	626
KERA	ACAN	P16112	605
KERA	SULT1C3	Q6IMI6	602
KERA	SULT1C4	O75897	599
KERA	SULT1B1	O43704	595
KERA	KRT3	P12035	595
KERA	CACNA1F	O60840	591
KERA	B3GNT7	Q8NFL0	590

IntAct

7 interactions, top by confidence:

A	B	Type	Score
EMILIN1	METTL15	psi-mi:“MI:0914”(association)	0.530
KERA	FBXO21	psi-mi:“MI:0914”(association)	0.530
KERA	Dlg4	psi-mi:“MI:0407”(direct interaction)	0.440
CDC37	KERA	psi-mi:“MI:0915”(physical association)	0.400
KERA	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (31): NUDT12 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), EID2 (Affinity Capture-MS), FBXO21 (Affinity Capture-MS), BLMH (Affinity Capture-MS), SQSTM1 (Affinity Capture-MS), MAP3K7 (Affinity Capture-MS), B4GALT5 (Affinity Capture-MS), PRKCI (Affinity Capture-MS), STK11IP (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), KERA (Positive Genetic), ITIH2 (Affinity Capture-MS)

ESM2 similar proteins: C0STK7, C3YZ59, O00206, O15455, O42235, O60938, O62702, O93233, P58727, Q0PV50, Q2V898, Q45R42, Q58A48, Q5BK65, Q5M7S9, Q5TJ59, Q62192, Q65YW8, Q65Z91, Q68Y56, Q6AXL3, Q6DF55, Q6R5N8, Q6R5P0, Q7Z2Q7, Q80X72, Q8BMT4, Q8BZT5, Q8C031, Q8N6Y2, Q8R5M3, Q8SPE8, Q8SPE9, Q965M2, Q99467, Q99MB1, Q99PH1, Q9CQ76, Q9CXD9, Q9DE66

Diamond homologs: A3KNN3, A6H789, A6H793, A6NJW4, A8WHP9, E7FE13, F1MLX5, G5EFX6, O02678, O02833, O35367, O46378, O46379, O46542, O60938, O62702, O75093, O75094, O88279, O88280, O94813, P07359, P07585, P21793, P24014, P28654, P28675, P35858, P35859, P51884, P51885, P51886, P51888, P51890, P58874, P59034, P59035, P70186, P70389, P83286

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	4
Uncertain significance	55
Likely benign	15
Benign	5

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1940458	NM_007035.4(KERA):c.55_56del (p.Trp19fs)	Pathogenic
225521	NM_007035.4(KERA):c.320T>G (p.Ile107Arg)	Pathogenic
2735921	NM_007035.4(KERA):c.209C>T (p.Pro70Leu)	Pathogenic
3609569	NM_007035.4(KERA):c.809C>A (p.Ser270Ter)	Pathogenic
4767828	NM_007035.4(KERA):c.748_757del (p.Ser250fs)	Pathogenic
56550	NM_007035.4(KERA):c.835C>T (p.Arg279Ter)	Pathogenic
6519	NM_007035.4(KERA):c.740A>G (p.Asn247Ser)	Pathogenic
6520	NM_007035.4(KERA):c.520C>T (p.Gln174Ter)	Pathogenic
6521	NM_007035.4(KERA):c.644C>A (p.Thr215Lys)	Pathogenic
6522	NM_007035.4(KERA):c.937C>T (p.Arg313Ter)	Pathogenic
3779786	NM_007035.4(KERA):c.242A>G (p.Asn81Ser)	Likely pathogenic
4087749	NM_007035.4(KERA):c.38_41del (p.Leu12_Phe13insTer)	Likely pathogenic
4531440	NM_007035.4(KERA):c.528C>G (p.Asn176Lys)	Likely pathogenic
56549	NM_007035.4(KERA):c.391A>G (p.Asn131Asp)	Likely pathogenic

SpliceAI

281 predictions. Top by Δscore:

Variant	Effect	Δscore
12:91051514:CACAC:C	acceptor_gain	0.9900
12:91051516:CAC:C	acceptor_gain	0.9900
12:91051517:ACCTA:A	acceptor_loss	0.9900
12:91051519:CT:C	acceptor_loss	0.9900
12:91051520:T:A	acceptor_loss	0.9900
12:91055394:A:AC	donor_gain	0.9900
12:91055395:C:CC	donor_gain	0.9900
12:91056289:CCTA:C	acceptor_loss	0.9900
12:91056290:C:CG	acceptor_loss	0.9900
12:91056291:T:A	acceptor_loss	0.9900
12:91055390:ACTT:A	donor_loss	0.9800
12:91055391:CT:C	donor_loss	0.9800
12:91055392:TT:T	donor_loss	0.9800
12:91055393:TA:T	donor_loss	0.9800
12:91055394:AC:A	donor_loss	0.9800
12:91055395:C:CT	donor_loss	0.9800
12:91055395:CT:C	donor_gain	0.9800
12:91056287:CAC:C	acceptor_gain	0.9800
12:91056290:C:CC	acceptor_gain	0.9800
12:91051519:C:CC	acceptor_gain	0.9700
12:91055387:GTTAC:G	donor_loss	0.9700
12:91055388:TTACT:T	donor_loss	0.9700
12:91055389:TAC:T	donor_loss	0.9700
12:91057747:G:A	donor_gain	0.9700
12:91057804:A:T	acceptor_gain	0.9600
12:91057955:GCTTA:G	donor_loss	0.9600
12:91057956:CTTA:C	donor_loss	0.9600
12:91057957:TTACC:T	donor_loss	0.9600
12:91057958:TA:T	donor_loss	0.9600
12:91057959:A:AG	donor_loss	0.9600

AlphaMissense

2332 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:91055482:A:G	L267P	0.998
12:91055764:A:G	L173P	0.998
12:91055770:A:T	L171H	0.998
12:91055826:A:C	N152K	0.998
12:91055826:A:T	N152K	0.998
12:91055827:T:A	N152I	0.998
12:91055842:A:G	L147S	0.998
12:91055889:A:C	N131K	0.998
12:91055889:A:T	N131K	0.998
12:91055914:A:C	L123W	0.998
12:91055967:G:C	N105K	0.998
12:91055967:G:T	N105K	0.998
12:91055968:T:A	N105I	0.998
12:91055969:T:A	N105Y	0.998
12:91055977:A:G	L102P	0.998
12:91056108:A:C	C58W	0.998
12:91056109:C:T	C58Y	0.998
12:91055422:A:G	L287P	0.997
12:91055466:A:C	N272K	0.997
12:91055466:A:T	N272K	0.997
12:91055476:A:G	L269P	0.997
12:91055551:A:G	L244P	0.997
12:91055770:A:G	L171P	0.997
12:91055779:A:G	L168P	0.997
12:91055828:T:A	N152Y	0.997
12:91055890:T:A	N131I	0.997
12:91055891:T:A	N131Y	0.997
12:91056039:G:C	N81K	0.997
12:91056039:G:T	N81K	0.997
12:91056049:A:G	L78P	0.997

dbSNP variants (sampled 300 via entrez): RS1000377132 (12:91054076 A>G), RS1000679087 (12:91052293 G>C,T), RS1000828568 (12:91058809 G>A,C), RS1001290845 (12:91056635 C>T), RS1001574220 (12:91054887 C>T), RS1002270095 (12:91059657 T>A), RS1002408949 (12:91059348 G>A), RS1002942726 (12:91059616 T>C), RS1002994160 (12:91053587 C>T), RS1003210732 (12:91054431 C>G,T), RS1003288601 (12:91053783 T>A), RS1003590589 (12:91054133 C>T), RS1003725500 (12:91058241 G>A,T), RS1003844265 (12:91052858 T>A,G), RS1004325815 (12:91053401 T>C,G)

Disease associations

OMIM: gene MIM:603288 | disease phenotypes: MIM:217300

GenCC curated gene-disease

Disease	Classification	Inheritance
cornea plana	Definitive	Autosomal recessive
cornea plana 2	Strong	Autosomal recessive
congenital cornea plana	Supportive	Autosomal dominant

Mondo (3): cornea plana 2 (MONDO:0009014), (MONDO:0018888), cornea plana (MONDO:0000733)

Orphanet (1): Congenital cornea plana (Orphanet:53691)

HPO phenotypes

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

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000540	Hypermetropia
HP:0000568	Microphthalmia
HP:0000647	Sclerocornea
HP:0001084	Corneal arcus
HP:0007663	Reduced visual acuity
HP:0007720	Flat cornea
HP:0007957	Corneal opacity
HP:0011463	Childhood onset
HP:0100689	Decreased corneal thickness

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001784_42	Pulmonary function (smoking interaction)	5.000000e-07
GCST002307_11	Systolic blood pressure (alcohol consumption interaction)	2.000000e-07
GCST002307_4	Systolic blood pressure (alcohol consumption interaction)	2.000000e-07
GCST008758_18	Pre-treatment viral load in HIV-1 infection	8.000000e-17

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio
EFO:0004329	alcohol drinking
EFO:0006335	systolic blood pressure
EFO:0010125	viral load

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565677	Cornea Plana 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
2-palmitoylglycerol	increases expression	1
Vorinostat	increases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Valproic Acid	affects expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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