GPN1

Summary

GPN1 (GPN-loop GTPase 1, HGNC:17030) is a protein-coding gene on chromosome 2p23.3, encoding GPN-loop GTPase 1 (Q9HCN4). Small GTPase involved in the correct assembly of RNA polymerase II (RNAPII) complex, ensuring proper nuclear import of RNAPII. It is a common-essential gene (DepMap: required in 99.7% of cancer cell lines).

This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 11321 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 67 total
• Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_007266

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17030
Approved symbol	GPN1
Name	GPN-loop GTPase 1
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	NTPBP, MBDIN, ATPBD1A, RPAP4
Ensembl gene	ENSG00000198522
Ensembl biotype	protein_coding
OMIM	611479
Entrez	11321

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 20 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000264718, ENST00000407583, ENST00000424214, ENST00000436280, ENST00000458167, ENST00000461249, ENST00000478484, ENST00000481754, ENST00000503738, ENST00000515877, ENST00000610189, ENST00000616939, ENST00000897039, ENST00000897040, ENST00000897041, ENST00000897042, ENST00000897043, ENST00000897044, ENST00000926337, ENST00000926338, ENST00000926339, ENST00000926340, ENST00000926341, ENST00000926342

RefSeq mRNA: 4 — MANE Select: NM_007266 NM_001145047, NM_001145048, NM_001145049, NM_007266

CCDS: CCDS1760, CCDS46248, CCDS46249, CCDS46250

Canonical transcript exons

ENST00000610189 — 14 exons

Exon	Start	End
ENSE00001751215	27647836	27647943
ENSE00003469019	27631834	27631900
ENSE00003470308	27638885	27639031
ENSE00003588805	27631027	27631066
ENSE00003632360	27635140	27635234
ENSE00003640474	27629859	27629952
ENSE00003646101	27642429	27642519
ENSE00003652069	27632633	27632670
ENSE00003674044	27640043	27640125
ENSE00003677998	27641240	27641279
ENSE00003688964	27638210	27638255
ENSE00003689308	27634846	27634924
ENSE00003702512	27650115	27651511
ENSE00003705413	27629050	27629169

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 93.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.2049 / max 990.0558, expressed in 1815 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19385	20.9673	1813
19384	0.2376	98

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	93.12	gold quality
ganglionic eminence	UBERON:0004023	92.92	gold quality
ventricular zone	UBERON:0003053	92.72	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.65	gold quality
gingival epithelium	UBERON:0001949	91.99	gold quality
cortical plate	UBERON:0005343	91.93	gold quality
embryo	UBERON:0000922	91.56	gold quality
rectum	UBERON:0001052	91.15	gold quality
tongue squamous epithelium	UBERON:0006919	90.75	gold quality
gastrocnemius	UBERON:0001388	90.57	gold quality
pancreas	UBERON:0001264	90.47	gold quality
muscle of leg	UBERON:0001383	90.40	gold quality
body of pancreas	UBERON:0001150	90.23	gold quality
granulocyte	CL:0000094	90.04	gold quality
right adrenal gland	UBERON:0001233	89.99	gold quality
right adrenal gland cortex	UBERON:0035827	89.96	gold quality
pancreatic ductal cell	CL:0002079	89.95	silver quality
leukocyte	CL:0000738	89.72	gold quality
stromal cell of endometrium	CL:0002255	89.68	gold quality
hair follicle	UBERON:0002073	89.67	gold quality
monocyte	CL:0000576	89.59	gold quality
mononuclear cell	CL:0000842	89.58	gold quality
esophagus mucosa	UBERON:0002469	89.41	gold quality
skin of leg	UBERON:0001511	89.38	gold quality
sperm	CL:0000019	89.30	gold quality
left adrenal gland	UBERON:0001234	89.28	gold quality
muscle organ	UBERON:0001630	89.25	gold quality
gingiva	UBERON:0001828	89.25	gold quality
skeletal muscle organ	UBERON:0014892	89.25	gold quality
mucosa of transverse colon	UBERON:0004991	89.19	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.13
E-GEOD-110499	no	1282.67

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MBD2

miRNA regulators (miRDB)

57 targeting GPN1, 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-6870-5P	99.99	68.55	2115
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-502-5P	98.77	66.51	906

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• relieves MBD2-mediated transcriptional repression and reactivates transcription from methylated promoters (PMID:12588985)
• RPAP4/GPN1 is a member of a newly discovered GTPase family that contains a highly conserved GPN loop motif that is essential, along with its GTP-binding motifs, for nuclear localization of POLR2A/RPB1 in a process that also requires microtubule assembly (PMID:20855544)
• Data show that GPN1/GPN3 define a new family of small GTPases that are specialized for the transport of RNA polymerase II into the nucleus. (PMID:21768307)
• A highly active, evolutionarily conserved nuclear export sequences in XAB1/Gpn1, was identified. (PMID:22796641)
• Gpn1-Gpn3 interaction was essential to maintain steady-state protein levels of both GTPases (PMID:25241168)
• GPN1 gene variation is associated with oral cavity and pharyngeal cancer. (PMID:27749845)
• an acquired PDZ-binding motif in Gpn3 Q279* caused Gpn3 nuclear entry, and inhibited Gpn1 nuclear export and Gpn3-mediated RNAPII nuclear targeting. (PMID:28940195)
• Results show that Gpn1-inhibitable, nuclear polyubiquitination on lysine 216 regulates the half-life of Gpn3 by tagging it for proteasomal degradation. (PMID:29029378)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gpn1	ENSDARG00000043928
mus_musculus	Gpn1	ENSMUSG00000064037
rattus_norvegicus	Gpn1	ENSRNOG00000004941
drosophila_melanogaster	CG3704	FBGN0040346
caenorhabditis_elegans		WBGENE00001661

Paralogs (2): GPN3 (ENSG00000111231), GPN2 (ENSG00000142751)

Protein

Protein identifiers

GPN-loop GTPase 1 — Q9HCN4 (reviewed: Q9HCN4)

Alternative names: MBD2-interacting protein, RNAPII-associated protein 4, XPA-binding protein 1

All UniProt accessions (3): Q9HCN4, F8WD09, Q53RZ9

UniProt curated annotations — full annotation on UniProt →

Function. Small GTPase involved in the correct assembly of RNA polymerase II (RNAPII) complex, ensuring proper nuclear import of RNAPII. In vitro, exhibits a chaperone-like activity and a chaperone substrate protein can stimulate its GTPase activity. It is proposed to bind exposed hydrophobic peptide regions of newly synthesized RNAP II subunit, triggering the opening of a hydrophobic pocket in its GDP-bound state. This interaction likely traps exposed hydrophobic regions, preventing misassembly and providing a time window for association with the cognate RNAP II subunit. Peptide binding promotes GDP release, and increasing GTP affinity to facilitate GTP rebinding. Subsequent GTP hydrolysis would then lead to the release of the bound RNAP II subunit to enable association with cognate subunits and RNAP II assembly. Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding proteins, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. May be involved in nuclear localization of XPA.

Subunit / interactions. Homodimer. Heterodimer with GPN3. Binds to RNA polymerase II (RNAPII). Interacts directly with RNAPII subunits RPB4 and RPB7 and the CTD of RPB1. Interacts with XPA.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed ubiquitously.

Activity regulation. Adopts a GDP-bound closed conformation and a GTP-bound open conformation with a hydrophobic pocket and switch from one to another by the binding of RNAPII subunit-derived hydrophobic peptides that are located at subunit interfaces. Peptide binding is thought to allosterically alter the active site, decreasing GDP affinity, promoting GDP release, and increasing GTP affinity to facilitate GTP rebinding.

Domain organisation. Consists of a central GTPase core, two protein insertions (named, insertion 1 and insertion 2), and a C-terminal tail.

Similarity. Belongs to the GPN-loop GTPase family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9HCN4-1	1	yes
Q9HCN4-2	2
Q9HCN4-3	3
Q9HCN4-4	4
Q9HCN4-5	5

RefSeq proteins (4): NP_001138519, NP_001138520, NP_001138521, NP_009197* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003593	AAA+_ATPase	Domain
IPR004130	Gpn	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030230	Gpn1/Npa3/XAB1	Family

Pfam: PF03029

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (39 total): binding site 14, modified residue 7, short sequence motif 6, splice variant 4, compositionally biased region 2, initiator methionine 1, chain 1, domain 1, site 1, region of interest 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCN4-F1	79.83	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.

Catalytic / active sites (1): 88 (stabilizes the phosphate intermediate; shared with dimeric partner)

Ligand- & substrate-binding residues (14): 29; 29; 31; 31; 32; 33; 33; 33; 34; 34; 56; 189 …

Post-translational modifications (7): 2, 301, 312, 314, 328, 338, 340

Mutagenesis-validated functional residues (1):

Position	Phenotype
29–32	abolishes gtpase activity and decreases association with gpn3.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 183 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, MORF_SMC1L1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, MORF_RRM1, MORF_HDAC1, GCAAGGA_MIR502, MORF_HDAC2, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEAR_TRANSPORT, MORF_CTBP1, WCTCNATGGY_UNKNOWN, MORF_BUB3

GO Biological Process (1): protein import into nucleus (GO:0006606)

GO Molecular Function (7): RNA polymerase II complex binding (GO:0000993), GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787), ATP hydrolysis activity (GO:0016887)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ribonucleoside triphosphate phosphatase activity	2
intracellular membrane-bounded organelle	2
cytoplasm	2
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
RNA polymerase core enzyme binding	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
ATP-dependent activity	1
nuclear lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1930 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPN1	RPAP1	Q9BWH6	968
GPN1	RPAP2	Q8IXW5	967
GPN1	RPAP3	Q9H6T3	921
GPN1	XPA	P23025	916
GPN1	PFDN6	O15212	895
GPN1	RUVBL1	P82276	875
GPN1	POLR2J	P52435	828
GPN1	INTS3	Q68E01	776
GPN1	MED17	Q9NVC6	749
GPN1	RUVBL2	Q9Y230	741
GPN1	POLR2B	P30876	723
GPN1	GPN3	Q9UHW5	679
GPN1	MBD2	Q9UBB5	674
GPN1	SLC7A6OS	Q96CW6	641
GPN1	SPATA31H1	Q68DN1	605

IntAct

106 interactions, top by confidence:

A	B	Type	Score
RPAP2	GPN1	psi-mi:“MI:0915”(physical association)	0.840
POLR2G	POLR2D	psi-mi:“MI:0914”(association)	0.840
POLR2J	POLR1C	psi-mi:“MI:0914”(association)	0.830
GPN2	GPN1	psi-mi:“MI:0915”(physical association)	0.800
POLR2G	RECQL5	psi-mi:“MI:0914”(association)	0.730
RPRD1B	RECQL5	psi-mi:“MI:0914”(association)	0.730
POLR2E	MED19	psi-mi:“MI:0914”(association)	0.730
POLR2C	POLR2D	psi-mi:“MI:0914”(association)	0.730
POLR3E	POLR3A	psi-mi:“MI:0914”(association)	0.730
POLR2J	POLR2D	psi-mi:“MI:0914”(association)	0.730
RPRD1B	POLR2D	psi-mi:“MI:0914”(association)	0.730
GPN3	GPN1	psi-mi:“MI:0915”(physical association)	0.700
GPN1	GPN3	psi-mi:“MI:0915”(physical association)	0.700
GPN3	GPN1	psi-mi:“MI:0403”(colocalization)	0.700
POLR2L	RCCD1	psi-mi:“MI:0914”(association)	0.640
POLR3K	POLR3A	psi-mi:“MI:0914”(association)	0.640
POLR2F	POLR3A	psi-mi:“MI:0914”(association)	0.640
POLR2D	RECQL5	psi-mi:“MI:0914”(association)	0.640
GPN2	POLR2B	psi-mi:“MI:0914”(association)	0.640
POLR2L	POLR3A	psi-mi:“MI:0914”(association)	0.640
POLR3D	POLR3A	psi-mi:“MI:0914”(association)	0.640
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530

BioGRID (199): GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Two-hybrid), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS), GPN1 (Affinity Capture-MS)

ESM2 similar proteins: A0A096MJN4, A4FUD1, B0KWP7, B3LF48, B5FW69, O36023, O42906, O55131, P06625, P08240, P13807, P29458, P32468, P40797, P46577, P47122, P49731, Q0VC68, Q10190, Q14141, Q16181, Q28BS0, Q3MHE8, Q4V8H8, Q54C25, Q5R1W1, Q5R481, Q5R9H0, Q5ZMN2, Q6Q137, Q7Z2Z2, Q7ZXZ0, Q8BH64, Q8MJ26, Q8VCE2, Q8W586, Q94CF0, Q99719, Q9BGQ3, Q9DBG7

Diamond homologs: A4FUD1, O42906, P46577, P47122, Q0P5E2, Q54C25, Q6CBB5, Q6R518, Q8VCE2, Q8W586, Q9D3W4, Q9HCN4, P0CN94, P0CN95, Q06543, Q08726, Q4PF70, Q4V7Z0, Q5A0W6, Q6BI59, Q6CQA6, Q6FSS0, Q750Q9, Q9UHW5, Q5BJ53, A6H7F2, D4A7C0, O14443, Q28I42, Q4IQT8, Q4R579, Q4WT40, Q54NK8, Q54TE7, Q56XY2, Q58DD9, Q66KF6, Q6PUR6, Q6ZM63, Q8VEJ1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 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
RNA Polymerase III Chain Elongation	13	139.8×	1e-24
FGFR2 mutant receptor activation	10	129.0×	3e-19
Signaling by FGFR2 IIIa TM	11	112.1×	5e-20
RNA Polymerase III Transcription Termination	13	109.4×	3e-23
Abortive elongation of HIV-1 transcript in the absence of Tat	12	101.0×	5e-21
RNA Polymerase III Transcription Initiation From Type 2 Promoter	14	100.4×	5e-24
RNA Polymerase III Transcription Initiation From Type 1 Promoter	14	96.8×	5e-24
RNA Polymerase III Transcription Initiation From Type 3 Promoter	14	96.8×	5e-24

GO biological processes:

GO term	Partners	Fold	FDR
transcription by RNA polymerase II	13	11.8×	3e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2090 predictions. Top by Δscore:

Variant	Effect	Δscore
2:27629848:T:G	acceptor_gain	1.0000
2:27629857:A:AG	acceptor_gain	1.0000
2:27629858:G:GG	acceptor_gain	1.0000
2:27629858:GA:G	acceptor_gain	1.0000
2:27629948:TATTG:T	donor_gain	1.0000
2:27629950:TTGGT:T	donor_loss	1.0000
2:27629951:TGGT:T	donor_loss	1.0000
2:27629953:G:GC	donor_loss	1.0000
2:27629953:G:GG	donor_gain	1.0000
2:27629954:T:G	donor_loss	1.0000
2:27632671:G:GG	donor_gain	1.0000
2:27635131:T:TA	acceptor_gain	1.0000
2:27635232:CAG:C	donor_loss	1.0000
2:27635233:AG:A	donor_loss	1.0000
2:27635234:GG:G	donor_loss	1.0000
2:27638208:A:AG	acceptor_gain	1.0000
2:27638209:G:GG	acceptor_gain	1.0000
2:27638209:GC:G	acceptor_gain	1.0000
2:27638256:G:GG	donor_gain	1.0000
2:27638877:T:TA	acceptor_gain	1.0000
2:27638972:G:GG	donor_gain	1.0000
2:27638976:G:GG	donor_gain	1.0000
2:27639009:A:G	donor_gain	1.0000
2:27639030:GG:G	donor_gain	1.0000
2:27639031:GG:G	donor_gain	1.0000
2:27640037:TGGCA:T	acceptor_loss	1.0000
2:27640038:GGCA:G	acceptor_loss	1.0000
2:27640039:GCAGG:G	acceptor_loss	1.0000
2:27640040:CAGG:C	acceptor_loss	1.0000
2:27640041:AGGT:A	acceptor_gain	1.0000

AlphaMissense

2465 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27629134:G:A	G26R	1.000
2:27629134:G:C	G26R	1.000
2:27629135:G:A	G26E	1.000
2:27629135:G:T	G26V	1.000
2:27629139:G:A	M27I	1.000
2:27629139:G:C	M27I	1.000
2:27629139:G:T	M27I	1.000
2:27629144:G:A	G29E	1.000
2:27629149:G:T	G31W	1.000
2:27629150:G:A	G31E	1.000
2:27629150:G:T	G31V	1.000
2:27629153:A:T	K32I	1.000
2:27629156:C:T	T33I	1.000
2:27629909:C:A	N54K	1.000
2:27629909:C:G	N54K	1.000
2:27629914:A:G	D56G	1.000
2:27629917:C:A	P57Q	1.000
2:27631033:G:C	R71P	1.000
2:27631842:T:C	L85P	1.000
2:27631844:G:A	G86R	1.000
2:27631844:G:C	G86R	1.000
2:27631845:G:A	G86E	1.000
2:27631852:T:A	N88K	1.000
2:27631852:T:G	N88K	1.000
2:27631854:G:A	G89D	1.000
2:27631857:G:A	G90D	1.000
2:27631860:T:A	I91K	1.000
2:27631872:T:C	L95P	1.000
2:27631878:T:C	L97P	1.000
2:27634866:C:A	P124H	1.000

dbSNP variants (sampled 300 via entrez): RS1000051484 (2:27634748 C>A,G), RS1000493511 (2:27627509 T>C), RS1000519908 (2:27642047 G>A), RS1000555549 (2:27647033 A>C), RS1000691367 (2:27646669 G>T), RS1000815716 (2:27647749 A>C,G), RS1000844195 (2:27627985 C>T), RS1000946754 (2:27639833 C>T), RS1001150149 (2:27640850 G>A), RS1001321899 (2:27633420 C>G), RS1001401184 (2:27646368 T>C), RS1001745455 (2:27645422 C>G,T), RS1001767591 (2:27646594 G>A), RS1002008103 (2:27645681 A>C), RS1002069693 (2:27638683 C>T)

Disease associations

OMIM: gene MIM:611479 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001841_15	Palmitoleic acid (16:1n-7) levels	1.000000e-09
GCST002126_7	Periodontitis (CDC/AAP)	8.000000e-06
GCST003048_130	Schizophrenia	4.000000e-08
GCST003858_1	Oral cavity cancer	4.000000e-08
GCST005308_2	Nonalcoholic fatty liver disease	1.000000e-06
GCST007858_3	Fasting blood glucose adjusted for BMI	6.000000e-08
GCST008103_38	Bipolar disorder	1.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
Air Pollutants	decreases expression, increases abundance	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenate	decreases expression	1
sodium arsenite	decreases expression	1
chloropicrin	increases expression	1
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic Trioxide	affects cotreatment, decreases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Ascorbic Acid	affects cotreatment, decreases expression	1
Coal	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Phthalic Acids	decreases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Rotenone	increases expression	1
Smoke	increases abundance, decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	increases expression	1
Copper Sulfate	increases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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