GNL3L

Summary

GNL3L (G protein nucleolar 3 like, HGNC:25553) is a protein-coding gene on chromosome Xp11.22, encoding Guanine nucleotide-binding protein-like 3-like protein (Q9NVN8). Stabilizes TERF1 telomeric association by preventing TERF1 recruitment by PML. It is a common-essential gene (DepMap: required in 90.5% of cancer cell lines).

The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 54552 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 176 total
• Cancer dependency (DepMap): dependent in 90.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_001184819

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25553
Approved symbol	GNL3L
Name	G protein nucleolar 3 like
Location	Xp11.22
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10613, GNL3B
Ensembl gene	ENSG00000130119
Ensembl biotype	protein_coding
OMIM	300873
Entrez	54552

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 17 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000336470, ENST00000360845, ENST00000489691, ENST00000674178, ENST00000674225, ENST00000674229, ENST00000674238, ENST00000674300, ENST00000674311, ENST00000674420, ENST00000674498, ENST00000674508, ENST00000873404, ENST00000873405, ENST00000873406, ENST00000873407, ENST00000873408, ENST00000873409, ENST00000924105, ENST00000949607, ENST00000949608

RefSeq mRNA: 2 — MANE Select: NM_001184819 NM_001184819, NM_019067

CCDS: CCDS14360

Canonical transcript exons

ENST00000360845 — 16 exons

Exon	Start	End
ENSE00000893254	54544223	54544326
ENSE00000893255	54548229	54548373
ENSE00000893256	54550963	54551050
ENSE00000893257	54551568	54551742
ENSE00000893258	54551832	54551974
ENSE00000893259	54552292	54552428
ENSE00000893260	54554565	54554692
ENSE00000893261	54558436	54558655
ENSE00001361993	54530219	54530419
ENSE00001391721	54560520	54567289
ENSE00003465027	54532520	54532585
ENSE00003510473	54539040	54539101
ENSE00003583542	54542955	54543038
ENSE00003601744	54543207	54543342
ENSE00003620643	54540135	54540242
ENSE00003631428	54541273	54541389

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 91.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.8100 / max 421.0361, expressed in 1821 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196433	41.4164	1819
196434	1.2110	761
196436	0.8786	545
196435	0.5633	328
196432	0.4702	232
209707	0.2704	102

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nipple	UBERON:0002030	91.14	gold quality
sural nerve	UBERON:0015488	89.23	gold quality
pylorus	UBERON:0001166	88.34	gold quality
urethra	UBERON:0000057	88.33	gold quality
colonic epithelium	UBERON:0000397	87.86	gold quality
bone marrow cell	CL:0002092	87.79	gold quality
adult organism	UBERON:0007023	87.69	gold quality
penis	UBERON:0000989	87.55	gold quality
renal medulla	UBERON:0000362	86.78	gold quality
superior surface of tongue	UBERON:0007371	86.25	gold quality
monocyte	CL:0000576	85.81	gold quality
mononuclear cell	CL:0000842	85.49	gold quality
leukocyte	CL:0000738	85.20	gold quality
blood vessel layer	UBERON:0004797	85.06	gold quality
oral cavity	UBERON:0000167	84.85	gold quality
pharyngeal mucosa	UBERON:0000355	84.69	gold quality
calcaneal tendon	UBERON:0003701	84.59	gold quality
trachea	UBERON:0003126	83.94	gold quality
stromal cell of endometrium	CL:0002255	83.86	gold quality
pericardium	UBERON:0002407	83.44	gold quality
substantia nigra pars compacta	UBERON:0001965	82.96	gold quality
inferior vagus X ganglion	UBERON:0005363	82.66	gold quality
dorsal root ganglion	UBERON:0000044	82.48	gold quality
corpus callosum	UBERON:0002336	82.47	gold quality
superficial temporal artery	UBERON:0001614	82.46	silver quality
adrenal tissue	UBERON:0018303	82.40	gold quality
body of tongue	UBERON:0011876	82.34	gold quality
bone marrow	UBERON:0002371	82.29	gold quality
tendon	UBERON:0000043	82.27	gold quality
pancreatic ductal cell	CL:0002079	81.91	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

205 targeting GNL3L, 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-3613-3P	100.00	76.36	7965
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-6845-3P	99.94	66.88	1439

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 90.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 10)

• analysis uncovers an important role for Grn1p/GNL3L within this unique group of nucleolar GTPases (PMID:16251348)
• GNL3L is composed of distinct modules, each of which plays a specific role in molecular interactions for its nucleolar retention and subsequent function(s) within the nucleolus (PMID:17034816)
• differences in the relative nucleostemin protein and mRNA levels may reflect the degree of proliferation of mesnchymal stem cells and can be used to characterize in vitro expansion capabilities (PMID:21063916)
• GNL3L bound MDM2 in vivo, stabilizing MDM2 and preventing its ubiquitylation. GNL3L depletion upregulated specific p53 targets (Bax, 14-3-3sigma and p21). (PMID:21132010)
• GNL3L depletion impairs ribosome production without inducing appreciable DNA damage. During evolution, GNL3L retained the role of the ancestral gene in ribosome biosynthesis, whereas the paralogous nucleostemin acquired a novel genome-protective function. (PMID:24610951)
• the present study provides evidence that GNL3L is exported from the nucleus in CRM1 dependent manner and the nuclear localization of GNL3L is important to promote ‘S’ phase progression during cell proliferation. (PMID:26274615)
• GNL3L-LDOC1 interplay regulates cell proliferation through the modulation of NF-kappaB pathway during tumorigenesis. (PMID:27764577)
• High expression of guanine nucleotide-binding protein-like-3-like is associated with poor prognosis in esophageal cancer. (PMID:34032716)
• Knockdown of GNL3L Alleviates the Progression of COPD Through Inhibiting the ATM/p53 Pathway. (PMID:38022822)
• GNL3L promotes autophagy via regulating AMPK signaling in esophageal cancer cells. (PMID:38148364)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gnl3l	ENSDARG00000020595
mus_musculus	Gnl3l	ENSMUSG00000025266
rattus_norvegicus	Gnl3l	ENSRNOG00000002509
drosophila_melanogaster	CG10914	FBGN0034307
caenorhabditis_elegans		WBGENE00013001

Paralogs (6): LSG1 (ENSG00000041802), NOA1 (ENSG00000084092), GNL2 (ENSG00000134697), MTG1 (ENSG00000148824), GNL3 (ENSG00000163938), GNL1 (ENSG00000204590)

Protein

Protein identifiers

Guanine nucleotide-binding protein-like 3-like protein — Q9NVN8 (reviewed: Q9NVN8)

All UniProt accessions (5): Q9NVN8, A0A6I8PL53, A0A6I8PL58, A0A6I8PL80, A0A6I8PS19

UniProt curated annotations — full annotation on UniProt →

Function. Stabilizes TERF1 telomeric association by preventing TERF1 recruitment by PML. Stabilizes TERF1 protein by preventing its ubiquitination and hence proteasomal degradation. Does so by interfering with TERF1-binding to FBXO4 E3 ubiquitin-protein ligase. Required for cell proliferation. By stabilizing TRF1 protein during mitosis, promotes metaphase-to-anaphase transition. Stabilizes MDM2 protein by preventing its ubiquitination, and hence proteasomal degradation. By acting on MDM2, may affect TP53 activity. Required for normal processing of ribosomal pre-rRNA. Binds GTP.

Subunit / interactions. Interacts with MDM2; this interaction, which occurs in the nucleoplasm, stabilizes MDM2. Indirectly interacts with TP53, via MDM2-binding. Interacts with TERF1; this interaction probably occurs in the nucleoplasm and is increased during mitosis, when the nucleolus is disassembled. This binding may promote TERF1 homodimerization. Interacts with TERT.

Subcellular location. Nucleus. Nucleolus.

Domain organisation. In contrast to other GTP-binding proteins, this family is characterized by a circular permutation of the GTPase motifs described by a G4-G1-G3 pattern.

Similarity. Belongs to the TRAFAC class YlqF/YawG GTPase family.

RefSeq proteins (2): NP_001171748, NP_061940 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006073	GTP-bd	Domain
IPR023179	GTP-bd_ortho_bundle_sf	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030378	G_CP_dom	Domain
IPR050755	TRAFAC_YlqF/YawG_RiboMat	Family

Pfam: PF01926

UniProt features (16 total): mutagenesis site 5, binding site 3, region of interest 2, chain 1, domain 1, sequence variant 1, coiled-coil region 1, compositionally biased region 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVN8-F1	72.55	0.27

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): 173–176; 259–266; 303–306

Post-translational modifications (1): 477

Mutagenesis-validated functional residues (5):

Position	Phenotype
9–10	loss of nucleolar localization; when associated with 34-a-a-35. loss of nuclear location; when associated with 19-a-a-20
19–20	loss of nuclear location; when associated with 9-a-a-10. loss of nuclear location; when associated with 34-a-a-35.
34–35	loss of nucleolar localization; when associated with 9-a-a-10. loss of nuclear location; when associated with 19-a-a-20.
145–147	loss of gtp binding. loss of nucleolar localization. no effect on nuclear localization.
309–310	loss of nucleolar localization. no effect on nuclear localization.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 157 (showing top): GOBP_RNA_TEMPLATED_DNA_BIOSYNTHETIC_PROCESS, GOBP_CHROMOSOME_ORGANIZATION, GOBP_RIBOSOME_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_TELOMERE_MAINTENANCE_VIA_TELOMERASE, GOBP_REGULATION_OF_PROTEIN_SUMOYLATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING, GOBP_TELOMERE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGCNKCCATNK_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS

GO Biological Process (7): positive regulation of protein-containing complex assembly (GO:0031334), negative regulation of protein ubiquitination (GO:0031397), regulation of protein stability (GO:0031647), negative regulation of telomere maintenance via telomerase (GO:0032211), negative regulation of protein sumoylation (GO:0033234), ribosome biogenesis (GO:0042254), positive regulation of protein localization to chromosome, telomeric region (GO:1904816)

GO Molecular Function (4): RNA binding (GO:0003723), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), telomerase holoenzyme complex (GO:0005697), nucleolus (GO:0005730), cytosol (GO:0005829), membrane (GO:0016020), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
negative regulation of protein modification by small protein conjugation or removal	2
nuclear lumen	2
regulation of protein-containing complex assembly	1
positive regulation of cellular component biogenesis	1
positive regulation of cellular component organization	1
protein-containing complex assembly	1
protein ubiquitination	1
regulation of protein ubiquitination	1
regulation of biological quality	1
telomere maintenance via telomerase	1
regulation of telomere maintenance via telomerase	1
negative regulation of telomere maintenance via telomere lengthening	1
negative regulation of DNA biosynthetic process	1
protein sumoylation	1
regulation of protein sumoylation	1
ribonucleoprotein complex biogenesis	1
protein localization to chromosome, telomeric region	1
positive regulation of protein localization	1
regulation of protein localization to chromosome, telomeric region	1
nucleic acid binding	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
nuclear protein-containing complex	1
catalytic complex	1
ribonucleoprotein complex	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

3153 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GNL3L	RCC1	P18754	733
GNL3L	TERT	O14746	658
GNL3L	TERF1	P54274	644
GNL3L	GTPBP4	Q9BZE4	644
GNL3L	RBMS2	Q15434	542
GNL3L	RSL24D1	Q9UHA3	506
GNL3L	NMD3	Q96D46	491
GNL3L	NVL	O15381	490
GNL3L	CWC15	Q9P013	475
GNL3L	SMARCA4	P51532	474
GNL3L	TMEM187	Q14656	473
GNL3L	RANBP1	P43487	472
GNL3L	PES1	O00541	470
GNL3L	SDE2	Q6IQ49	461
GNL3L	RRP15	Q9Y3B9	461

IntAct

134 interactions, top by confidence:

A	B	Type	Score
TP53	MDM2	psi-mi:“MI:0915”(physical association)	1.000
GNL3L	ROPN1	psi-mi:“MI:0915”(physical association)	0.780
ROPN1	GNL3L	psi-mi:“MI:0915”(physical association)	0.780
GNL3L	LDOC1	psi-mi:“MI:0915”(physical association)	0.740
LDOC1	GNL3L	psi-mi:“MI:0915”(physical association)	0.740
ALAS1	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
LZTS2	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
GNL3L	DCDC2	psi-mi:“MI:0915”(physical association)	0.560
GNL3L	KANK2	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
KANK2	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
PRKAR1B	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
HMBOX1	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
TRIM54	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
DYNLL1	GNL3L	psi-mi:“MI:0915”(physical association)	0.560
GNL3L	MDM2	psi-mi:“MI:0915”(physical association)	0.560
MDM2	GNL3L	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (201): GNL3L (Two-hybrid), ROPN1 (Two-hybrid), LZTS2 (Two-hybrid), GNL3L (Affinity Capture-MS), GNL3L (Affinity Capture-MS), GNL3L (Affinity Capture-MS), GNL3L (Affinity Capture-MS), GNL3L (Affinity Capture-MS), GNL3L (Affinity Capture-MS), GNL3L (Two-hybrid), GNL3L (Co-fractionation), GNL3L (Co-fractionation), GNL3L (Co-fractionation), NMD3 (Co-fractionation), NOP58 (Co-fractionation)

ESM2 similar proteins: A2XGQ1, G0S8F1, J9VQ03, O14236, O44411, O94659, P0CS94, P36776, P53145, P53742, Q02892, Q10190, Q10LF7, Q13823, Q21086, Q2YDM7, Q3UM18, Q4R8L2, Q54N72, Q59HJ6, Q5BJT6, Q5E9R3, Q5ZJD3, Q6C036, Q6CM00, Q6CSP9, Q6FRV0, Q6FWS1, Q6NY89, Q74ZK6, Q75DA4, Q7SHR8, Q8MT06, Q99LH1, Q99ME9, Q99P77, Q9BZE4, Q9C3Z4, Q9C6I8, Q9C923

Diamond homologs: A2XGQ1, A4SDB8, A5GR60, A5IMB8, A5N2K5, A5VWQ6, A6LT31, A8EXG4, A8GM60, A8GQS1, A8GUK6, A9KFU3, A9NDV6, B0JFL6, B0KG04, B1JFJ3, B1LBK5, B1X0B0, B2TPB6, B2UX10, B3EGV8, B3PN57, B3QQY9, B3WE42, B4S596, B6J7Q3, B7K1S0, B8GAY7, B8I8N7, B9K8C0, C3PMD9, C4K1B9, J9VQ03, O14236, O67679, O74791, P0CS94, P36915, P36916, P40010

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	10
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2698 predictions. Top by Δscore:

Variant	Effect	Δscore
X:54530298:GAAGT:G	donor_gain	1.0000
X:54530301:GT:G	donor_gain	1.0000
X:54530303:G:GG	donor_gain	1.0000
X:54539038:A:AG	acceptor_gain	1.0000
X:54539039:G:GG	acceptor_gain	1.0000
X:54539039:GA:G	acceptor_gain	1.0000
X:54539039:GAA:G	acceptor_gain	1.0000
X:54539039:GAAA:G	acceptor_gain	1.0000
X:54540122:A:AG	acceptor_gain	1.0000
X:54540122:AT:A	acceptor_gain	1.0000
X:54540122:ATGT:A	acceptor_gain	1.0000
X:54540122:ATGTG:A	acceptor_gain	1.0000
X:54540123:T:TA	acceptor_gain	1.0000
X:54540125:T:TA	acceptor_gain	1.0000
X:54540126:G:A	acceptor_gain	1.0000
X:54540128:T:TA	acceptor_gain	1.0000
X:54540133:A:AG	acceptor_gain	1.0000
X:54540134:G:GG	acceptor_gain	1.0000
X:54540134:GCCT:G	acceptor_gain	1.0000
X:54540239:GTGG:G	donor_gain	1.0000
X:54541387:AAG:A	donor_loss	1.0000
X:54541389:GGTA:G	donor_loss	1.0000
X:54541390:GTAAG:G	donor_loss	1.0000
X:54542952:TA:T	acceptor_loss	1.0000
X:54542953:A:AG	acceptor_gain	1.0000
X:54542953:A:AT	acceptor_loss	1.0000
X:54542954:G:GT	acceptor_gain	1.0000
X:54543029:GTTCC:G	donor_gain	1.0000
X:54543034:GTAAG:G	donor_loss	1.0000
X:54543035:TAAGG:T	donor_loss	1.0000

AlphaMissense

3861 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:54543250:G:T	R145I	0.999
X:54543338:G:C	K174N	0.999
X:54543338:G:T	K174N	0.999
X:54544252:T:A	W186R	0.999
X:54544252:T:C	W186R	0.999
X:54550977:G:T	G264W	0.999
X:54550978:G:A	G264E	0.999
X:54550983:A:C	S266R	0.999
X:54550985:C:A	S266R	0.999
X:54550985:C:G	S266R	0.999
X:54551606:T:C	L301P	0.999
X:54543256:C:A	P147Q	0.998
X:54543322:T:A	V169D	0.998
X:54543328:T:A	V171D	0.998
X:54543335:C:A	N173K	0.998
X:54543335:C:G	N173K	0.998
X:54543336:A:G	K174E	0.998
X:54543337:A:C	K174T	0.998
X:54543337:A:T	K174M	0.998
X:54544226:T:C	L177P	0.998
X:54544229:T:A	V178D	0.998
X:54544265:T:C	L190P	0.998
X:54544291:T:C	F199L	0.998
X:54544292:T:C	F199S	0.998
X:54544293:C:A	F199L	0.998
X:54544293:C:G	F199L	0.998
X:54550977:G:A	G264R	0.998
X:54550977:G:C	G264R	0.998
X:54550986:A:C	S267R	0.998
X:54550988:C:A	S267R	0.998

dbSNP variants (sampled 300 via entrez): RS1000102046 (X:54573494 A>G), RS1000104008 (X:54638051 G>C), RS1000110661 (X:54561441 G>A), RS1000179740 (X:54558718 T>C), RS1000192437 (X:54546777 G>A,T), RS1000250590 (X:54537155 A>G), RS1000300991 (X:54597098 T>C), RS1000304288 (X:54536606 G>A), RS1000383634 (X:54600942 A>G), RS1000427146 (X:54590773 A>G), RS1000441106 (X:54528914 A>G,T), RS1000455599 (X:54610655 G>C), RS1000514389 (X:54608264 T>C), RS1000589346 (X:54534946 G>A), RS1000638687 (X:54600071 G>A)

Disease associations

OMIM: gene MIM:300873 | 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
GCST008860_37	Prostate cancer	7.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression, increases expression	3
trichostatin A	affects cotreatment, increases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Cisplatin	affects cotreatment, affects expression, decreases expression	2
Nickel	increases expression	2
Dronabinol	increases expression	2
Valproic Acid	affects expression, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
testosterone enanthate	affects expression	1
bisphenol A	increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
cobalt oxide	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases expression, affects cotreatment	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Panobinostat	affects cotreatment, affects expression	1
Acetaminophen	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1

Clinical trials (associated diseases)

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