RTKN

Summary

RTKN (rhotekin, HGNC:10466) is a protein-coding gene on chromosome 2p13.1, encoding Rhotekin (Q9BST9). Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis.

This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 6242 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 118 total
• MANE Select transcript: NM_001015055

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10466
Approved symbol	RTKN
Name	rhotekin
Location	2p13.1
Locus type	gene with protein product
Status	Approved
Aliases	B5, RTKN-1
Ensembl gene	ENSG00000114993
Ensembl biotype	protein_coding
OMIM	602288
Entrez	6242

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 retained_intron, 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000233330, ENST00000272430, ENST00000305557, ENST00000460968, ENST00000464094, ENST00000469859, ENST00000472518, ENST00000479256, ENST00000484453, ENST00000492013, ENST00000640304

RefSeq mRNA: 4 — MANE Select: NM_001015055 NM_001015055, NM_001015056, NM_001410843, NM_033046

CCDS: CCDS1941, CCDS33226, CCDS42699, CCDS92783

Canonical transcript exons

ENST00000272430 — 12 exons

Exon	Start	End
ENSE00000762591	74427424	74427592
ENSE00000762593	74428268	74428396
ENSE00000762595	74428631	74428737
ENSE00000762597	74428848	74428942
ENSE00000762598	74429828	74430037
ENSE00001846649	74441706	74441937
ENSE00001861096	74425835	74426574
ENSE00003479714	74430465	74430518
ENSE00003522225	74427169	74427273
ENSE00003584235	74432467	74432666
ENSE00003625943	74430616	74430677
ENSE00003631991	74430252	74430369

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 98.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0438 / max 268.1404, expressed in 1513 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29204	4.7034	761
29202	2.6902	1150
29198	0.6686	91
29208	0.5071	261
29195	0.4871	80
29201	0.4200	229
29200	0.3169	147
29196	0.0978	51
29199	0.0861	50
29203	0.0380	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	98.02	gold quality
right lobe of liver	UBERON:0001114	97.85	gold quality
metanephros cortex	UBERON:0010533	97.48	gold quality
tibial nerve	UBERON:0001323	97.44	gold quality
spinal cord	UBERON:0002240	97.18	gold quality
kidney epithelium	UBERON:0004819	96.88	gold quality
sural nerve	UBERON:0015488	95.72	gold quality
cortex of kidney	UBERON:0001225	95.38	gold quality
adult mammalian kidney	UBERON:0000082	94.82	gold quality
substantia nigra	UBERON:0002038	94.70	gold quality
body of pancreas	UBERON:0001150	94.54	gold quality
inferior vagus X ganglion	UBERON:0005363	94.45	gold quality
corpus callosum	UBERON:0002336	94.28	gold quality
mucosa of transverse colon	UBERON:0004991	94.21	gold quality
amygdala	UBERON:0001876	94.00	gold quality
liver	UBERON:0002107	93.94	gold quality
midbrain	UBERON:0001891	93.93	gold quality
lower esophagus mucosa	UBERON:0035834	93.86	gold quality
putamen	UBERON:0001874	93.74	gold quality
right uterine tube	UBERON:0001302	93.34	gold quality
hypothalamus	UBERON:0001898	93.24	gold quality
minor salivary gland	UBERON:0001830	92.81	gold quality
skin of abdomen	UBERON:0001416	92.75	gold quality
left lobe of thyroid gland	UBERON:0001120	92.71	gold quality
right lobe of thyroid gland	UBERON:0001119	92.55	gold quality
apex of heart	UBERON:0002098	92.41	gold quality
transverse colon	UBERON:0001157	92.30	gold quality
kidney	UBERON:0002113	91.97	gold quality
caudate nucleus	UBERON:0001873	91.75	gold quality
thyroid gland	UBERON:0002046	91.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting RTKN, 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-5692A	100.00	74.40	6850
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-7153-3P	99.00	65.35	608
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-218-1-3P	98.63	67.97	832
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-4761-3P	96.27	66.26	524
HSA-MIR-758-5P	93.99	64.46	534

Literature-anchored findings (GeneRIF, showing 12)

• Rho/RTKN-mediated NF-kappaB activation leading to cell survival may play a key role in gastric tumorigenesis. (PMID:15316142)
• overexpression may play a key role in gastric tumorigenesis by conferring cells resistance to apoptosis (PMID:15480428)
• These results suggest that the RTKN gene is involved in bladder carcinogenesis and progression in bladder carcinoma, indicating that RTKN gene could be a molecular target in cancer therapy. (PMID:15599595)
• Lin-7B is a binding partner for Rhotekin in the human brain cDNA library (PMID:16979770)
• SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling (PMID:17546647)
• Rhotekin forms a complex with vinexin and may play a role at focal adhesions. (PMID:19294487)
• Loss of miR-145 may provide a selective growth advantage for MCF-7 by targeting RTKN. (PMID:19360360)
• Protein kinase D regulates RhoA activity via phosphorylation rhotekin at Ser-435. (PMID:22228765)
• suggest that interaction of S100A4 and Rhotekin permits S100A4 to complex with RhoA and switch Rho function from stress fiber formation to membrane ruffling to confer an invasive phenotypea (PMID:22964635)
• RTKN could affect the proliferation and metastasis of colon cancer by reducing expression of MCM2/3/5, CDK1/2 and PCNA (PMID:26349972)
• The RTKN protein is associated with lung cancer in clinic samples and exerts anticancer activity in lung adenocarcinoma cells through inhibiting cell cycle progression and the DNA replication machinery. (PMID:26935528)
• Let-7a microRNA inhibits tumor cell growth and metastasis by directly targeting RTKN in human colon cancer. (PMID:27498032)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rtkna	ENSDARG00000031345
mus_musculus	Rtkn	ENSMUSG00000034930
rattus_norvegicus	Rtkn	ENSRNOG00000009022

Paralogs (2): ANLN (ENSG00000011426), RTKN2 (ENSG00000182010)

Protein

Protein identifiers

Rhotekin — Q9BST9 (reviewed: Q9BST9)

All UniProt accessions (2): Q9BST9, A0A1W2PPZ2

UniProt curated annotations — full annotation on UniProt →

Function. Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures.

Subunit / interactions. Interacts via its C-terminal region with the TAX1BP3 PDZ domain. This interaction facilitates Rho-mediated activation of the c-Fos serum response element (SRE). Interacts with SEPT9. Specifically binds to GTP-bound RHOA, RHOB and RHOC and inhibits their GTPase activity.

Tissue specificity. Highly expressed in prostate, moderately in kidney, heart, brain, spleen, testis, placenta, small intestine, pancreas, skeletal muscle and peripheral blood leukocytes, and weakly in ovary, colon and thymus. Weakly expressed in all normal cell lines tested. Overexpressed in various cancer cell lines.

Miscellaneous. Incomplete sequence.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BST9-1	1	yes
Q9BST9-2	2
Q9BST9-3	3

RefSeq proteins (4): NP_001015055, NP_001015056, NP_001397772, NP_149035 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011072	HR1_rho-bd	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR012966	AHD	Domain
IPR051364	Cytokinesis/Rho-signaling	Family

Pfam: PF00169, PF08174

UniProt features (38 total): sequence conflict 22, modified residue 8, domain 2, splice variant 2, region of interest 2, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BST9-F1	72.66	0.42

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 (8): 520, 529, 543, 14, 30, 106, 230, 232

Mutagenesis-validated functional residues (1):

Position	Phenotype
561–563	impairs interaction with tax1bp3.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-5666185	RHO GTPases Activate Rhotekin and Rhophilins
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 156 (showing top): GOBP_MITOTIC_CYTOKINESIS, RNGTGGGC_UNKNOWN, MYOGENIN_Q6, GCANCTGNY_MYOD_Q6, AP4_Q6, TGACCTY_ERR1_Q2, GOMF_GTPASE_BINDING, GGGTGGRR_PAX4_03, GOBP_CYTOKINETIC_PROCESS, CAGCTG_AP4_Q5, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_CYTOKINESIS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, HEN1_01

GO Biological Process (7): mitotic cytokinesis (GO:0000281), actomyosin contractile ring assembly (GO:0000915), apoptotic process (GO:0006915), signal transduction (GO:0007165), Rho protein signal transduction (GO:0007266), septin ring organization (GO:0031106), regulation of apoptotic process (GO:0042981)

GO Molecular Function (5): GTPase inhibitor activity (GO:0005095), GTP binding (GO:0005525), small GTPase binding (GO:0031267), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (2): actomyosin contractile ring (GO:0005826), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
RHO GTPase cycle	3
Signaling by Rho GTPases	2
RHO GTPase Effectors	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitotic cell cycle	1
cytoskeleton-dependent cytokinesis	1
mitotic cell cycle process	1
assembly of actomyosin apparatus involved in cytokinesis	1
actomyosin contractile ring organization	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
small GTPase-mediated signal transduction	1
septin cytoskeleton organization	1
apoptotic process	1
regulation of programmed cell death	1
GTPase activity	1
enzyme inhibitor activity	1
GTPase regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
GTPase binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
cortical actin cytoskeleton	1
cell division site	1
contractile ring	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

540 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RTKN	RHOA	P06749	998
RTKN	SLCO6A1	Q86UG4	986
RTKN	CDC42	P21181	894
RTKN	RHPN1	Q8TCX5	874
RTKN	RHOC	P08134	858
RTKN	LIN7B	Q9HAP6	823
RTKN	PKN1	Q16512	796
RTKN	SEPTIN4	O43236	750
RTKN	RHOB	P01121	706
RTKN	LIN7A	O14910	692
RTKN	SEPTIN11	Q9NVA2	669
RTKN	ARHGDIA	P52565	660
RTKN	AKT1	P31749	589
RTKN	RALGDS	Q12967	588
RTKN	SEPTIN9	Q9UHD8	580

IntAct

242 interactions, top by confidence:

A	B	Type	Score
RTKN	RHOA	psi-mi:“MI:0915”(physical association)	0.910
RHOA	RTKN	psi-mi:“MI:0915”(physical association)	0.910
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
sseJ	RHOA	psi-mi:“MI:1355”(lipid cleavage)	0.740
TAX1BP3	ARVCF	psi-mi:“MI:0914”(association)	0.690
TAX1BP3	RTKN	psi-mi:“MI:0407”(direct interaction)	0.690
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
RTKN	Rhoa	psi-mi:“MI:0915”(physical association)	0.590
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
MAGI1	RTKN	psi-mi:“MI:0407”(direct interaction)	0.550
RTKN	MAGI1	psi-mi:“MI:0407”(direct interaction)	0.550
RHOC	ARHGEF11	psi-mi:“MI:0914”(association)	0.530
KLHDC3	CLUH	psi-mi:“MI:0914”(association)	0.530
RTKN	MFHAS1	psi-mi:“MI:0407”(direct interaction)	0.440
RTKN	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
RTKN	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
RTKN	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
RTKN	DLG2	psi-mi:“MI:0407”(direct interaction)	0.440
MAGI3	RTKN	psi-mi:“MI:0407”(direct interaction)	0.440
RTKN	ERBIN	psi-mi:“MI:0407”(direct interaction)	0.440
RTKN	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
RTKN	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
RTKN	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (131): RHOA (Reconstituted Complex), AKAP13 (Reconstituted Complex), MAP1LC3A (Reconstituted Complex), RHOA (Reconstituted Complex), RTKN (Affinity Capture-MS), RTKN (Affinity Capture-MS), RTKN (Affinity Capture-MS), RTKN (Affinity Capture-Western), RTKN (Reconstituted Complex), RHOA (Reconstituted Complex), RHOA (Reconstituted Complex), RTKN (Affinity Capture-MS), KCTD3 (Affinity Capture-MS), KIF13B (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5PJB7, A0A1L8HX76, A6QR40, O08764, O60294, O95382, P10938, P70218, P97452, Q12851, Q14137, Q15334, Q16586, Q28686, Q32P44, Q3TJ91, Q499N3, Q499U2, Q4KLI9, Q561R2, Q562C2, Q5RBH8, Q5RCX2, Q61161, Q6AY79, Q6F5E8, Q6P1M3, Q6V7V2, Q7SZE3, Q7TMC8, Q80Y17, Q8BYZ7, Q8C3I8, Q8C6B2, Q8CHW4, Q8K4K5, Q8MKF0, Q8N0W3, Q8VC03, Q91WI7

Diamond homologs: Q14B46, Q5XGX5, Q5XIZ9, Q6V7V2, Q8C6B2, Q8IZC4, Q9BST9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RTKN	down-regulates	SEPTIN9
PRKD1	“up-regulates activity”	RTKN	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 166 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	43.5×	8e-09
Activation of BAD and translocation to mitochondria	6	42.3×	2e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	37.3×	4e-07
RHO GTPases activate PKNs	10	29.4×	1e-10
Activation of BH3-only proteins	6	27.6×	2e-06
Sema4D induced cell migration and growth-cone collapse	5	26.4×	3e-05
Assembly and cell surface presentation of NMDA receptors	10	23.5×	9e-10
Dopamine Neurotransmitter Release Cycle	5	23.0×	5e-05

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	7	26.4×	4e-06
regulation of postsynaptic membrane neurotransmitter receptor levels	7	22.5×	6e-06
protein targeting	8	19.0×	4e-06
substantia nigra development	5	11.9×	5e-03
regulation of small GTPase mediated signal transduction	8	7.5×	2e-03
protein-containing complex assembly	8	5.9×	5e-03
intracellular protein localization	8	5.4×	6e-03
actin cytoskeleton organization	9	4.6×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	93
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1679 predictions. Top by Δscore:

Variant	Effect	Δscore
2:74427165:TTA:T	donor_loss	1.0000
2:74427166:T:TG	donor_loss	1.0000
2:74427167:A:AC	donor_gain	1.0000
2:74427167:AC:A	donor_gain	1.0000
2:74427167:ACC:A	donor_gain	1.0000
2:74427168:C:CC	donor_gain	1.0000
2:74427168:CC:C	donor_gain	1.0000
2:74427168:CCC:C	donor_gain	1.0000
2:74427168:CCCA:C	donor_gain	1.0000
2:74427168:CCCAT:C	donor_gain	1.0000
2:74427269:TTGGC:T	acceptor_gain	1.0000
2:74427270:TGGC:T	acceptor_gain	1.0000
2:74427271:GGC:G	acceptor_gain	1.0000
2:74427271:GGCC:G	acceptor_loss	1.0000
2:74427272:GC:G	acceptor_gain	1.0000
2:74427272:GCC:G	acceptor_loss	1.0000
2:74427273:CC:C	acceptor_gain	1.0000
2:74427274:C:CA	acceptor_loss	1.0000
2:74427274:C:CC	acceptor_gain	1.0000
2:74427275:T:A	acceptor_loss	1.0000
2:74427422:A:AC	donor_gain	1.0000
2:74427422:ACT:A	donor_gain	1.0000
2:74427423:C:CT	donor_gain	1.0000
2:74427423:CT:C	donor_gain	1.0000
2:74427423:CTC:C	donor_gain	1.0000
2:74427423:CTCA:C	donor_gain	1.0000
2:74427426:A:AC	donor_gain	1.0000
2:74427426:ATGT:A	donor_gain	1.0000
2:74427449:AG:A	donor_gain	1.0000
2:74427453:T:TA	donor_gain	1.0000

AlphaMissense

3641 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:74430496:C:A	W132C	0.999
2:74430496:C:G	W132C	0.999
2:74430498:A:G	W132R	0.999
2:74430498:A:T	W132R	0.999
2:74427268:A:G	W421R	0.998
2:74427268:A:T	W421R	0.998
2:74430512:C:G	R127P	0.998
2:74427266:C:A	W421C	0.997
2:74427266:C:G	W421C	0.997
2:74430347:G:C	F150L	0.997
2:74430347:G:T	F150L	0.997
2:74430349:A:G	F150L	0.997
2:74430497:C:G	W132S	0.997
2:74430503:A:G	L130P	0.997
2:74430503:A:T	L130H	0.997
2:74430506:G:T	P129Q	0.996
2:74430478:G:C	F138L	0.995
2:74430478:G:T	F138L	0.995
2:74430480:A:G	F138L	0.995
2:74432536:C:G	R81P	0.995
2:74428683:G:T	A302D	0.994
2:74428696:A:G	C298R	0.994
2:74428865:A:G	L278P	0.994
2:74429999:A:G	L195P	0.994
2:74430348:A:G	F150S	0.994
2:74430627:A:T	V121D	0.994
2:74432605:A:G	L58P	0.994
2:74427267:C:G	W421S	0.993
2:74428919:G:T	A260D	0.993
2:74430506:G:C	P129R	0.993

dbSNP variants (sampled 300 via entrez): RS1000130153 (2:74442757 A>G,T), RS1000134127 (2:74442318 A>G), RS1000241361 (2:74436074 A>G), RS1000480973 (2:74443134 C>A), RS1000519449 (2:74443605 G>A,C), RS1000631825 (2:74437817 T>C), RS1000865254 (2:74432398 C>T), RS1000874514 (2:74438340 C>T), RS1000967621 (2:74438042 T>A), RS1001066778 (2:74430982 C>A), RS1001123 (2:74432696 G>T), RS1001575406 (2:74430162 G>C,T), RS1001628863 (2:74443195 T>A), RS1001699964 (2:74436432 T>C), RS1001713983 (2:74426698 T>C,G)

Disease associations

OMIM: gene MIM:602288 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_394	Refractive error	2.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression	2
Valproic Acid	affects expression, decreases expression, decreases methylation	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
parthenolide	decreases reaction, decreases response to substance	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
pinostrobin	increases expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, affects cotreatment	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
bisphenol S	affects expression	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Butyrates	decreases response to substance, decreases reaction	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1
Copper	affects binding, decreases expression	1
Curcumin	decreases reaction, decreases response to substance	1

Clinical trials (associated diseases)

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