NKIRAS2

Summary

NKIRAS2 (NFKB inhibitor interacting Ras like 2, HGNC:17898) is a protein-coding gene on chromosome 17q21.2, encoding NF-kappa-B inhibitor-interacting Ras-like protein 2 (Q9NYR9). Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation.

Predicted to enable GTPase activating protein binding activity. Predicted to be involved in Ral protein signal transduction. Predicted to act upstream of or within several processes, including lung alveolus development; regulation of signal transduction; and surfactant homeostasis. Predicted to be located in cytoplasm.

Source: NCBI Gene 28511 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_017595

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17898
Approved symbol	NKIRAS2
Name	NFKB inhibitor interacting Ras like 2
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KBRAS2, DKFZP434N1526, kappaB-Ras2
Ensembl gene	ENSG00000168256
Ensembl biotype	protein_coding
OMIM	604497
Entrez	28511

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 16 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000307641, ENST00000316082, ENST00000393879, ENST00000393880, ENST00000393881, ENST00000393885, ENST00000449471, ENST00000462043, ENST00000479407, ENST00000485789, ENST00000491638, ENST00000585955, ENST00000587028, ENST00000587337, ENST00000891944, ENST00000891945, ENST00000891946, ENST00000920234, ENST00000920235, ENST00000953222

RefSeq mRNA: 5 — MANE Select: NM_017595 NM_001001349, NM_001144927, NM_001144928, NM_001144929, NM_017595

CCDS: CCDS11415, CCDS45679, CCDS45680

Canonical transcript exons

ENST00000393885 — 4 exons

Exon	Start	End
ENSE00001809911	42023654	42025641
ENSE00002738372	42021564	42021671
ENSE00002795068	42020090	42020204
ENSE00003534500	42022399	42022640

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 94.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.0780 / max 237.9970, expressed in 1820 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160911	31.3036	1820
160910	0.5997	351
160909	0.1746	43

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	94.05	gold quality
lower esophagus mucosa	UBERON:0035834	93.41	gold quality
monocyte	CL:0000576	93.25	gold quality
mononuclear cell	CL:0000842	93.18	gold quality
leukocyte	CL:0000738	92.91	gold quality
ganglionic eminence	UBERON:0004023	92.66	gold quality
stromal cell of endometrium	CL:0002255	92.64	gold quality
gastrocnemius	UBERON:0001388	92.13	gold quality
heart left ventricle	UBERON:0002084	91.92	gold quality
muscle of leg	UBERON:0001383	91.89	gold quality
cardiac ventricle	UBERON:0002082	91.65	gold quality
apex of heart	UBERON:0002098	91.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.46	gold quality
muscle organ	UBERON:0001630	90.42	gold quality
granulocyte	CL:0000094	90.16	gold quality
heart	UBERON:0000948	90.13	gold quality
esophagus mucosa	UBERON:0002469	90.06	gold quality
right atrium auricular region	UBERON:0006631	90.01	gold quality
esophagus	UBERON:0001043	89.98	gold quality
lower esophagus	UBERON:0013473	89.91	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.90	gold quality
popliteal artery	UBERON:0002250	89.71	gold quality
tibial artery	UBERON:0007610	89.69	gold quality
ventricular zone	UBERON:0003053	89.62	gold quality
right coronary artery	UBERON:0001625	89.49	gold quality
smooth muscle tissue	UBERON:0001135	89.29	gold quality
cardiac atrium	UBERON:0002081	89.29	gold quality
embryo	UBERON:0000922	89.18	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.15	gold quality
aorta	UBERON:0000947	88.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

85 targeting NKIRAS2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459

Literature-anchored findings (GeneRIF, showing 3)

• KappaB-Ras2 is a nuclear-cytoplasmic small GTPase that inhibits NF-kappaB activation through the suppression of transcriptional activation of p65/RelA. (PMID:20639196)
• GBM cells overexpressing TNFAIP3 and NKIRAS2 were refractory to miR-125b-induced apoptosis resistance as well as TMZ resistance, indicating that both genes are relevant targets of miR-125b. (PMID:24901050)
• K15 promoter-driven enforced expression of NKIRAS exhibits tumor suppressive activity against the development of DMBA/TPA-induced skin tumors. (PMID:34667224)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	nkiras2	ENSDARG00000052594
mus_musculus	Nkiras2	ENSMUSG00000017837
rattus_norvegicus	Nkiras2	ENSRNOG00000018095

Paralogs (35): RALA (ENSG00000006451), REM1 (ENSG00000088320), RASL10A (ENSG00000100276), RASD2 (ENSG00000100302), RASL12 (ENSG00000103710), RHEB (ENSG00000106615), RASD1 (ENSG00000108551), RERGL (ENSG00000111404), RAP1A (ENSG00000116473), RASL11A (ENSG00000122035), RAP2C (ENSG00000123728), RAP2A (ENSG00000125249), RRAS (ENSG00000126458), RAP1B (ENSG00000127314), RASL11B (ENSG00000128045), KRAS (ENSG00000133703), RRAS2 (ENSG00000133818), RERG (ENSG00000134533), REM2 (ENSG00000139890), RIT1 (ENSG00000143622), RALB (ENSG00000144118), RIT2 (ENSG00000152214), MRAS (ENSG00000158186), DIRAS3 (ENSG00000162595), GEM (ENSG00000164949), DIRAS2 (ENSG00000165023), RRAD (ENSG00000166592), RHEBL1 (ENSG00000167550), HRAS (ENSG00000174775), DIRAS1 (ENSG00000176490), RAP2B (ENSG00000181467), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)

Protein

Protein identifiers

NF-kappa-B inhibitor-interacting Ras-like protein 2 — Q9NYR9 (reviewed: Q9NYR9)

Alternative names: I-kappa-B-interacting Ras-like protein 2

All UniProt accessions (7): A0A0A0MTA0, Q9NYR9, H7BXP1, K7EKE9, K7ELL8, K7ER26, K7ERG2

UniProt curated annotations — full annotation on UniProt →

Function. Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and nuclear localization of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB.

Subunit / interactions. Interacts with both NF-kappa-B inhibitor alpha (NFKBIA) and beta (NFKBIB) in vitro. However, it probably only interacts with NFKBIB in vivo. Interacts with GFOD1.

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed.

Domain organisation. In contrast to other members of the Ras family, the members of the KappaB-Ras subfamily do not contain the conserved Gly and Gln residues in positions 13 and 65, which are replaced by Ala and Leu residues, respectively, and are therefore similar to the constitutively active forms of oncogenic forms of Ras. This suggests that members of this family are clearly different from other small GTPases proteins.

Similarity. Belongs to the small GTPase superfamily. Ras family. KappaB-Ras subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9NYR9-1	1	yes
Q9NYR9-2	2
Q9NYR9-3	3
Q9NYR9-4	4

RefSeq proteins (5): NP_001001349, NP_001138399, NP_001138400, NP_001138401, NP_060065* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR042227	KBRS	Family

Pfam: PF00071

UniProt features (14 total): splice variant 4, mutagenesis site 3, binding site 3, region of interest 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NYR9-F1	89.81	0.78

Functional residue map

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

Ligand- & substrate-binding residues (3): 11–18; 61–65; 120–123

Mutagenesis-validated functional residues (3):

Position	Phenotype
41	does not affect interaction with gfod1.
42	impairs the interaction with gfod1.
44	does not affect interaction with gfod1.

Function

Pathways and Gene Ontology

Reactome pathways

28 pathways

ID	Pathway
R-HSA-1810476	RIP-mediated NFkB activation via ZBP1
R-HSA-445989	TAK1-dependent IKK and NF-kappa-B activation
R-HSA-933542	TRAF6 mediated NF-kB activation
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-1606322	ZBP1(DAI) mediated induction of type I IFNs
R-HSA-166016	Toll Like Receptor 4 (TLR4) Cascade
R-HSA-166058	MyD88:MAL(TIRAP) cascade initiated on plasma membrane
R-HSA-166166	MyD88-independent TLR4 cascade
R-HSA-168138	Toll Like Receptor 9 (TLR9) Cascade
R-HSA-168142	Toll Like Receptor 10 (TLR10) Cascade
R-HSA-168164	Toll Like Receptor 3 (TLR3) Cascade
R-HSA-168176	Toll Like Receptor 5 (TLR5) Cascade
R-HSA-168179	Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-168181	Toll Like Receptor 7/8 (TLR7/8) Cascade
R-HSA-168188	Toll Like Receptor TLR6:TLR2 Cascade
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-168898	Toll-like Receptor Cascades
R-HSA-168928	DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-181438	Toll Like Receptor 2 (TLR2) Cascade
R-HSA-1834949	Cytosolic sensors of pathogen-associated DNA
R-HSA-446652	Interleukin-1 family signaling
R-HSA-449147	Signaling by Interleukins
R-HSA-9020702	Interleukin-1 signaling
R-HSA-937061	TRIF (TICAM1)-mediated TLR4 signaling
R-HSA-975138	TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
R-HSA-975155	MyD88 dependent cascade initiated on endosome
R-HSA-975871	MyD88 cascade initiated on plasma membrane

MSigDB gene sets: 188 (showing top): REACTOME_DDX58_IFIH1_MEDIATED_INDUCTION_OF_INTERFERON_ALPHA_BETA, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, SP3_Q3, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, AP2_Q3, GGGTGGRR_PAX4_03, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, AAACCAC_MIR140, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, CCCNNNNNNAAGWT_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION

GO Biological Process (7): inflammatory response (GO:0006954), regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803), Ral protein signal transduction (GO:0032484), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), surfactant homeostasis (GO:0043129), lung alveolus development (GO:0048286), regulation of canonical NF-kappaB signal transduction (GO:0043122)

GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), GTPase activating protein binding (GO:0032794), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-16 pathways:

Category	Pathways
Toll-like Receptor Cascades	7
Immune System	2
Toll Like Receptor 4 (TLR4) Cascade	2
Toll Like Receptor 2 (TLR2) Cascade	2
Innate Immune System	2
ZBP1(DAI) mediated induction of type I IFNs	1
MyD88:MAL(TIRAP) cascade initiated on plasma membrane	1
Toll Like Receptor 3 (TLR3) Cascade	1
Interleukin-1 signaling	1
TRIF (TICAM1)-mediated TLR4 signaling	1
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	1
MyD88 cascade initiated on plasma membrane	1
DDX58/IFIH1-mediated induction of interferon-alpha/beta	1
Cytosolic sensors of pathogen-associated DNA	1
Toll Like Receptor TLR1:TLR2 Cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
canonical NF-kappaB signal transduction	2
defense response	1
regulation of cytokine-mediated signaling pathway	1
tumor necrosis factor-mediated signaling pathway	1
small GTPase-mediated signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
negative regulation of intracellular signal transduction	1
multicellular organismal-level chemical homeostasis	1
lung development	1
anatomical structure development	1
regulation of intracellular signal transduction	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

420 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NKIRAS2	NFKBIA	P25963	784
NKIRAS2	NFKBIB	Q15653	774
NKIRAS2	NFKBIE	O00221	561
NKIRAS2	REL	Q04864	389
NKIRAS2	ZYG11A	Q6WRX3	370
NKIRAS2	TAPT1	Q6NXT6	303
NKIRAS2	ARL5A	Q9Y689	300
NKIRAS2	TRIM7	Q9C029	290
NKIRAS2	RASL10B	Q96S79	283
NKIRAS2	SAMD10	Q9BYL1	273
NKIRAS2	POMT1	Q9Y6A1	265
NKIRAS2	ZNF142	P52746	251
NKIRAS2	TRIM59	Q8IWR1	247
NKIRAS2	TEX2	Q8IWB9	246
NKIRAS2	TNFAIP3	P21580	246

IntAct

24 interactions, top by confidence:

A	B	Type	Score
CBLN4	C1QL1	psi-mi:“MI:0914”(association)	0.530
L3HYPDH	CCNE2	psi-mi:“MI:0914”(association)	0.530
GFOD1	RALGAPA2	psi-mi:“MI:0914”(association)	0.530
NKIRAS2	RALGAPA2	psi-mi:“MI:0914”(association)	0.530
SLC30A2	ESYT2	psi-mi:“MI:0914”(association)	0.530
NKIRAS2	PCNA	psi-mi:“MI:0915”(physical association)	0.370
PAX6	NKIRAS2	psi-mi:“MI:0915”(physical association)	0.370
NKIRAS2	SMN1	psi-mi:“MI:0915”(physical association)	0.370
NKIRAS2	TK1	psi-mi:“MI:0915”(physical association)	0.370
MAD2L2		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
GADD45A	CBX4	psi-mi:“MI:0914”(association)	0.350
LAMTOR5	ERI3	psi-mi:“MI:0914”(association)	0.350
NKIRAS2	RAP1GDS1	psi-mi:“MI:0914”(association)	0.350
BTLA	TUBB8	psi-mi:“MI:0914”(association)	0.350
NPAS1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
GFOD1	SBF1	psi-mi:“MI:0914”(association)	0.350
APOBEC3C	KIF1C	psi-mi:“MI:0914”(association)	0.350
MIS18A	CCDC85C	psi-mi:“MI:0914”(association)	0.350
NKIRAS2	GABARAPL2	psi-mi:“MI:0914”(association)	0.350
WASHC3	WASHC1	psi-mi:“MI:0914”(association)	0.350
ORF66	RALGAPA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (42): NKIRAS2 (Affinity Capture-MS), NKIRAS2 (Affinity Capture-MS), NKIRAS2 (Affinity Capture-MS), GFOD1 (Affinity Capture-MS), RALGAPA2 (Affinity Capture-MS), RALGAPA1 (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), GFOD2 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), DCAF10 (Affinity Capture-MS), NKIRAS2 (Affinity Capture-MS), NKIRAS2 (Affinity Capture-MS), NKIRAS2 (Affinity Capture-MS), NKIRAS2 (Affinity Capture-RNA), NKIRAS2 (Affinity Capture-MS)

ESM2 similar proteins: O15294, O89050, O95057, P11233, P22124, P35290, P36860, P56558, P63320, P63321, P63322, P79101, P81436, Q03555, Q05048, Q27HV0, Q5BJQ6, Q5EA19, Q5NVN7, Q5PR73, Q5R4Q7, Q5R6S2, Q5R8K2, Q5RB35, Q5RFN0, Q5RKN4, Q5ZJW6, Q8BGR6, Q8BUV3, Q8CEC5, Q8CGY8, Q8N653, Q91Z61, Q95KD9, Q969Q5, Q96HU8, Q96NJ5, Q99LC2, Q99PV3, Q9BH04

Diamond homologs: A5A6J7, A6NIZ1, C4YKT4, E9R5S0, O35626, P01119, P0CY32, P11234, P13856, P18613, P22123, P22279, P36860, P52498, P61223, P61224, P62833, P62834, P62835, P62836, P79737, Q18246, Q19143, Q32NS2, Q4R379, Q4R9D4, Q4X241, Q550Q4, Q55BW0, Q59XU5, Q5R4B8, Q5RDM6, Q5ZHX1, Q5ZJW6, Q62636, Q640R7, Q6DGL2, Q6DGQ1, Q6IP71, Q6TEN1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1212 predictions. Top by Δscore:

Variant	Effect	Δscore
17:42017159:G:GT	donor_gain	1.0000
17:42021544:GC:G	acceptor_gain	1.0000
17:42021667:AGTGG:A	donor_loss	1.0000
17:42021668:GTGG:G	donor_gain	1.0000
17:42021672:G:GC	donor_loss	1.0000
17:42021673:T:TG	donor_loss	1.0000
17:42021674:G:GG	donor_loss	1.0000
17:42022638:G:GT	donor_gain	1.0000
17:42023649:CCCAG:C	acceptor_loss	1.0000
17:42023650:CCAG:C	acceptor_loss	1.0000
17:42023652:A:AG	acceptor_gain	1.0000
17:42023652:AG:A	acceptor_gain	1.0000
17:42023653:G:GA	acceptor_gain	1.0000
17:42023653:GG:G	acceptor_gain	1.0000
17:42023653:GGT:G	acceptor_gain	1.0000
17:42023653:GGTC:G	acceptor_gain	1.0000
17:42023653:GGTCA:G	acceptor_gain	1.0000
17:42017160:A:T	donor_gain	0.9900
17:42017189:G:GT	donor_gain	0.9900
17:42017341:T:TA	donor_gain	0.9900
17:42017589:G:GA	donor_gain	0.9900
17:42021562:A:G	acceptor_gain	0.9900
17:42021670:GG:G	donor_gain	0.9900
17:42021671:GG:G	donor_gain	0.9900
17:42021672:G:GG	donor_gain	0.9900
17:42021675:A:AA	donor_loss	0.9900
17:42022375:GACA:G	acceptor_gain	0.9900
17:42022395:CCAGG:C	acceptor_loss	0.9900
17:42022397:A:AG	acceptor_gain	0.9900
17:42022397:AGGT:A	acceptor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000355625 (17:42016313 C>T), RS1000968404 (17:42020649 T>C), RS1001235155 (17:42020452 A>G), RS1001642071 (17:42023401 A>G), RS1001904681 (17:42022931 A>G), RS1002377496 (17:42021932 G>A), RS1002610374 (17:42024969 T>C), RS1003813785 (17:42019159 G>A), RS1004644017 (17:42018842 C>G,T), RS1004758823 (17:42022849 G>C), RS1005228594 (17:42017402 C>G,T), RS1005244171 (17:42020167 C>G,T), RS1007539247 (17:42021252 C>G), RS1007779233 (17:42021023 C>A,T), RS1008026965 (17:42015714 T>C,G)

Disease associations

OMIM: gene MIM:604497 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	increases expression	2
aristolochic acid I	increases expression	1
2-anisidine	decreases expression	1
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
Sunitinib	decreases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Lead	decreases expression	1
Polycyclic Aromatic Hydrocarbons	increases abundance, increases expression, affects cotreatment	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Vanadates	decreases expression	1
1-Butanol	affects cotreatment, increases abundance, increases expression	1
Acrylamide	increases expression	1
Particulate Matter	affects cotreatment, increases abundance, increases expression	1

Clinical trials (associated diseases)

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