GLCE

Summary

GLCE (glucuronic acid epimerase, HGNC:17855) is a protein-coding gene on chromosome 15q23, encoding D-glucuronyl C5-epimerase (O94923). Converts D-glucuronic acid residues adjacent to N-sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains.

Enables calcium ion binding activity; heparosan-N-sulfate-glucuronate 5-epimerase activity; and protein homodimerization activity. Involved in heparan sulfate proteoglycan biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Implicated in cerebrovascular disease and hypertension.

Source: NCBI Gene 26035 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_015554

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17855
Approved symbol	GLCE
Name	glucuronic acid epimerase
Location	15q23
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0836, HSEPI
Ensembl gene	ENSG00000138604
Ensembl biotype	protein_coding
OMIM	612134
Entrez	26035

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000261858, ENST00000559420, ENST00000559500, ENST00000559798, ENST00000897735

RefSeq mRNA: 5 — MANE Select: NM_015554 NM_001324091, NM_001324092, NM_001324093, NM_001324094, NM_015554

CCDS: CCDS32277

Canonical transcript exons

ENST00000261858 — 5 exons

Exon	Start	End
ENSE00001100285	69268220	69272207
ENSE00001483355	69210316	69210406
ENSE00001483356	69160635	69160757
ENSE00003891562	69255794	69256392
ENSE00003893165	69261087	69261329

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 93.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.3766 / max 378.2128, expressed in 1774 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147435	11.3872	1738
147436	5.9711	1535
147440	0.0184	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	93.73	gold quality
cerebellar cortex	UBERON:0002129	93.68	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.25	gold quality
calcaneal tendon	UBERON:0003701	92.80	gold quality
cerebellum	UBERON:0002037	92.76	gold quality
ganglionic eminence	UBERON:0004023	90.56	gold quality
cortical plate	UBERON:0005343	90.12	gold quality
rectum	UBERON:0001052	88.30	gold quality
endothelial cell	CL:0000115	88.04	gold quality
islet of Langerhans	UBERON:0000006	86.89	gold quality
secondary oocyte	CL:0000655	86.86	gold quality
adrenal tissue	UBERON:0018303	86.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.37	gold quality
monocyte	CL:0000576	85.52	gold quality
mononuclear cell	CL:0000842	85.20	gold quality
minor salivary gland	UBERON:0001830	84.90	gold quality
metanephros cortex	UBERON:0010533	84.89	gold quality
leukocyte	CL:0000738	84.84	gold quality
right lobe of liver	UBERON:0001114	84.01	gold quality
left adrenal gland	UBERON:0001234	83.86	gold quality
esophagus mucosa	UBERON:0002469	83.81	gold quality
mouth mucosa	UBERON:0003729	83.75	gold quality
oocyte	CL:0000023	83.71	gold quality
mucosa of transverse colon	UBERON:0004991	83.63	gold quality
choroid plexus epithelium	UBERON:0003911	83.59	gold quality
left adrenal gland cortex	UBERON:0035825	83.51	gold quality
esophagus squamous epithelium	UBERON:0006920	83.46	gold quality
tendon	UBERON:0000043	83.43	gold quality
right adrenal gland cortex	UBERON:0035827	83.37	gold quality
adrenal gland	UBERON:0002369	82.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.70
E-ENAD-17	no	220.95

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, TCF4, TCF7L2

miRNA regulators (miRDB)

230 targeting GLCE, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960

Literature-anchored findings (GeneRIF, showing 18)

• The regulation of GLCE expression by 2 cis-acting elements of the beta-catenin-TCF4 complex located in the enhancer region of the promoter are reported. (PMID:15853773)
• in 82-84% of human breast tumors there is either downregulation or loss of D-glucuronyl C5-epimerase mRNA expression and significant decrease of the protein content (PMID:17985344)
• SNPs in GLCE are associated with triglyceride and HDL-C levels in Turks, and mouse studies support a role for glce in lipid metabolism. (PMID:21488854)
• Loss of D-glucuronyl C-5 epimerase is associated with small-cell lung cancer. (PMID:21654676)
• The biphasic mode of C(5)-epi offers a novel mechanism to regulate the biosynthesis of HS with the desired biological functions. (PMID:22528493)
• A correlation was observed between D-glucuronyl C5-epimerase (GLCE), TCF4 and beta-catenin expression in breast cancer cells and primary tumors, suggesting an important role for TCF4/beta-catenin in regulating GLCE expression both in vitro and in vivo. (PMID:22805760)
• Chondroitin-glucuronate C5-epimerase is a potential candidate for tumour antigen with immunogenicity and the peptides derived from this antigen could be useful in hepatocellular carcinoma immunotherapy. (PMID:22830596)
• positive correlation between miRNA-218 and GLCE mRNA, and negative correlation between miRNA-218 and GLCE protein levels in breast tissues and primary tumors in vivo, supporting a direct involvement of miRNA-218 in posttranscriptional regulation of GLCE (PMID:22968430)
• activation of angiogenesis as a main molecular mechanism of pro-oncogenic effect of GLCE in prostate cancer. (PMID:24264315)
• GLCE may be used as a potential model to study the functional role of intratumor cell heterogeneity in prostate cancer progression. (PMID:24403231)
• C5-epimerase and 2-O-sulfotransferase in association generate extended domains of consecutive GlcNS-IdoA2S Sequence. (PMID:25594747)
• Results show that overexpression of Hsepi alone resulted in an unexpected increase in heparan sulfate (HS) chain length. A Hsepi point-mutant (Y168A), devoid of catalytic activity, failed to affect chain length. Moreover, the effect of Hsepi overexpression on HS chain length was abolished by simultaneous overexpression of 2OST. (PMID:27511124)
• The GLCE gene polymorphism rs3865014 appears to have biological relevance in human pathophysiology. (PMID:27699767)
• The obtained data suggest an involvement of GLCE rs3865014 in breast cancer development. Heterozygous AG genotype might be a risk factor for breast cancer susceptibility in Siberian women and is associated with aggressive ER-negative and triple-negative cancer subtypes. (PMID:28734894)
• Substrate binding mode and catalytic mechanism of human heparan sulfate d-glucuronyl C5 epimerase. (PMID:30872481)
• Results found the expression of GLCE is significantly decreased in the brains of frontotemporal lobar degeneration cases relative to normal controls, demonstrating the potential disease relevance of the candidate gene identified. Furthermore, knockdown of GLCE in cultured human cells protects against oxidative stress induced pTDP accumulation. (PMID:31834878)
• Elucidating the unusual reaction kinetics of D-glucuronyl C5-epimerase. (PMID:32304324)
• Glycolysis- and immune-related novel prognostic biomarkers of Ewing’s sarcoma: glucuronic acid epimerase and triosephosphate isomerase 1. (PMID:34233293)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	glcea	ENSDARG00000005095
danio_rerio	glceb	ENSDARG00000068981
mus_musculus	Glce	ENSMUSG00000032252
rattus_norvegicus	Glce	ENSRNOG00000025372
drosophila_melanogaster	Hsepi	FBGN0033087
caenorhabditis_elegans		WBGENE00002003

Protein

Protein identifiers

D-glucuronyl C5-epimerase — O94923 (reviewed: O94923)

Alternative names: Heparan sulfate C5-epimerase, Heparin/heparan sulfate:glucuronic acid C5-epimerase, Heparosan-N-sulfate-glucuronate 5-epimerase

All UniProt accessions (2): O94923, H0YNP1

UniProt curated annotations — full annotation on UniProt →

Function. Converts D-glucuronic acid residues adjacent to N-sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains. This is important for further modifications that determine the specificity of interactions between these glycosaminoglycans and proteins.

Subunit / interactions. Homodimer. Interacts with HS2ST1.

Subcellular location. Golgi apparatus membrane.

Pathway. Glycan metabolism; heparan sulfate biosynthesis. Glycan metabolism; heparin biosynthesis.

Similarity. Belongs to the D-glucuronyl C5-epimerase family.

RefSeq proteins (5): NP_001311020, NP_001311021, NP_001311022, NP_001311023, NP_056369* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010598	C5-epim_C	Domain
IPR039721	C5-epimerase	Family
IPR059154	Glce_b_sandwich	Domain

Pfam: PF06662, PF21174

Enzyme classification (BRENDA):

• EC 5.1.3.17 — heparosan-N-sulfate-glucuronate 5-epimerase (BRENDA: 37 organisms, 39 substrates, 7 inhibitors, 4 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
URONIC ACID RESIDUES	0.063–0.44	2
HEPARAN SULFATE-DERIVED POLYSACCHARIDE	0.2	1
HEPARIN-DERIVED POLYSACCHARIDE	0.17	1

Catalyzed reactions (Rhea), 1 shown:

• heparosan-N-sulfate = heparan-N-sulfate (RHEA:20197)

UniProt features (86 total): strand 25, binding site 18, helix 15, mutagenesis site 8, turn 7, site 4, glycosylation site 3, topological domain 2, sequence variant 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6I01	X-RAY DIFFRACTION	2.1
6I02	X-RAY DIFFRACTION	2.45
6HZZ	X-RAY DIFFRACTION	2.52

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94923-F1	88.83	0.82

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 (4): 180 (critical for catalysis); 187 (critical for catalysis); 560 (critical for catalysis); 578 (critical for catalysis)

Ligand- & substrate-binding residues (18): 238; 240; 268; 269; 392; 429–432; 499–500; 510; 514; 560; 563; 572–581 …

Glycosylation sites (3): 225, 303, 393

Mutagenesis-validated functional residues (8):

Position	Phenotype
146	reduces enzyme activity by about 60%.
162	reduces enzyme activity by about 75%.
168	almost abolishes enzyme activity.
210	reduces enzyme activity by about 30%.
222	almost abolishes enzyme activity.
499	loss of enzyme activity.
500	mildly decreased enzyme activity.
578	loss of enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2022928	HS-GAG biosynthesis

MSigDB gene sets: 283 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, TACAATC_MIR508, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GTGCCTT_MIR506, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, MCLACHLAN_DENTAL_CARIES_DN, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOBP_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION

GO Biological Process (5): positive regulation of cell population proliferation (GO:0008284), heparan sulfate proteoglycan biosynthetic process (GO:0015012), heparin proteoglycan biosynthetic process (GO:0030210), negative regulation of cell projection organization (GO:0031345), positive regulation of SMAD protein signal transduction (GO:0060391)

GO Molecular Function (6): calcium ion binding (GO:0005509), racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857), protein homodimerization activity (GO:0042803), heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464), isomerase activity (GO:0016853), metal ion binding (GO:0046872)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Heparan sulfate/heparin (HS-GAG) metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein O-linked glycosylation via xylose	2
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
proteoglycan biosynthetic process	1
heparan sulfate proteoglycan metabolic process	1
heparin proteoglycan metabolic process	1
cell projection organization	1
regulation of cell projection organization	1
negative regulation of cellular component organization	1
regulation of SMAD protein signal transduction	1
SMAD protein signal transduction	1
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
positive regulation of intracellular signal transduction	1
metal ion binding	1
racemase and epimerase activity	1
identical protein binding	1
protein dimerization activity	1
racemase and epimerase activity, acting on carbohydrates and derivatives	1
catalytic activity	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

634 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GLCE	HS2ST1	Q7LGA3	881
GLCE	HS6ST1	O60243	861
GLCE	HS3ST1	O14792	736
GLCE	NDST1	P52848	726
GLCE	K7EP71	K7EP71	707
GLCE	EXT1	Q16394	701
GLCE	NDST2	P52849	691
GLCE	NDST3	O95803	650
GLCE	NDST4	Q9H3R1	649
GLCE	HS3ST6	Q96QI5	647
GLCE	HS6ST2	Q96MM7	645
GLCE	EXTL1	Q92935	639
GLCE	EXTL3	O43909	623
GLCE	EXT2	Q93063	620
GLCE	B3GAT3	O94766	618
GLCE	HS6ST3	Q8IZP7	618

IntAct

61 interactions, top by confidence:

A	B	Type	Score
DEFA5	NUDT19	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
CDK5RAP3	PLD2	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
GLCE	ATP5F1B	psi-mi:“MI:0915”(physical association)	0.400
GLCE	ARL6IP1	psi-mi:“MI:0915”(physical association)	0.400
GLCE	H1-0	psi-mi:“MI:0915”(physical association)	0.400
GLCE	BAG4	psi-mi:“MI:0915”(physical association)	0.370
BCAR3	GLCE	psi-mi:“MI:0915”(physical association)	0.370
GLCE	CASP8	psi-mi:“MI:0915”(physical association)	0.370
GLCE	ERBB2	psi-mi:“MI:0915”(physical association)	0.370
GLCE	ESR1	psi-mi:“MI:0915”(physical association)	0.370
FGFR2	GLCE	psi-mi:“MI:0915”(physical association)	0.370
FGFR4	GLCE	psi-mi:“MI:0915”(physical association)	0.370
PAX2	GLCE	psi-mi:“MI:0915”(physical association)	0.370
GLCE	PPM1D	psi-mi:“MI:0915”(physical association)	0.370
GLCE	RB1CC1	psi-mi:“MI:0915”(physical association)	0.370
HAUS7	GOLIM4	psi-mi:“MI:0914”(association)	0.350
GINM1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
GINM1	FAM234B	psi-mi:“MI:0914”(association)	0.350
SMIM5	KLRG2	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
TMEM59	GPR89A	psi-mi:“MI:0914”(association)	0.350

BioGRID (80): GLCE (Affinity Capture-MS), GLCE (Affinity Capture-MS), GLCE (Affinity Capture-MS), GLCE (Two-hybrid), GLCE (Two-hybrid), GLCE (Two-hybrid), GLCE (Two-hybrid), GLCE (Two-hybrid), GLCE (Two-hybrid), GLCE (Two-hybrid), GLCE (Two-hybrid), GLCE (Two-hybrid), GLCE (Two-hybrid), GLCE (Affinity Capture-MS), GLCE (Affinity Capture-MS)

ESM2 similar proteins: A0A1P8AWH8, A2Y8B9, F1QR43, F4JG10, F4JVN6, F4KFT7, O18756, O22975, O23617, O80574, O80596, O80738, O94923, Q06402, Q0VC13, Q0WUI9, Q10MJ1, Q1PET6, Q3U1V6, Q43093, Q43847, Q5IH13, Q5IH14, Q5MAU8, Q5VS72, Q6DHV7, Q6YXW6, Q6ZHE5, Q80SY6, Q8L7N4, Q8LB01, Q8VYP9, Q8VZF3, Q8W4K1, Q8W519, Q94AH8, Q94AS5, Q94E75, Q96DG6, Q99683

Diamond homologs: F1QR43, O18756, O94923, P46555, Q58528, Q9EPS3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 77 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
Constitutive Signaling by Aberrant PI3K in Cancer	5	11.5×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
intracellular zinc ion homeostasis	6	41.9×	4e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2264 predictions. Top by Δscore:

Variant	Effect	Δscore
15:69223472:A:G	donor_gain	1.0000
15:69256029:G:GT	donor_gain	1.0000
15:69261081:TTATA:T	acceptor_loss	1.0000
15:69261086:G:A	acceptor_loss	1.0000
15:69261086:GGT:G	acceptor_gain	1.0000
15:69261328:AGGTA:A	donor_loss	1.0000
15:69261329:GGT:G	donor_loss	1.0000
15:69261330:G:GA	donor_loss	1.0000
15:69160680:GCC:G	donor_gain	0.9900
15:69194524:GG:G	donor_gain	0.9900
15:69194525:GG:G	donor_gain	0.9900
15:69197294:G:T	donor_gain	0.9900
15:69197375:G:GT	donor_gain	0.9900
15:69234700:G:GG	donor_gain	0.9900
15:69256044:G:GT	donor_gain	0.9900
15:69261083:ATAG:A	acceptor_gain	0.9900
15:69261085:A:AG	acceptor_gain	0.9900
15:69261085:AG:A	acceptor_gain	0.9900
15:69261086:G:GA	acceptor_gain	0.9900
15:69261086:GG:G	acceptor_gain	0.9900
15:69261086:GGTGT:G	acceptor_gain	0.9900
15:69261326:CCAG:C	donor_gain	0.9900
15:69261330:G:GG	donor_gain	0.9900
15:69160829:C:T	donor_gain	0.9800
15:69225251:GA:G	donor_gain	0.9800
15:69234705:GTCT:G	donor_gain	0.9800
15:69234706:TCTT:T	donor_gain	0.9800
15:69248572:A:T	donor_gain	0.9800
15:69255788:CCATA:C	acceptor_loss	0.9800
15:69255789:CATAG:C	acceptor_loss	0.9800

AlphaMissense

4086 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:69256335:T:C	F177L	1.000
15:69256337:T:A	F177L	1.000
15:69256337:T:G	F177L	1.000
15:69256369:T:A	V188D	1.000
15:69261093:C:A	P198Q	1.000
15:69261099:C:A	S200Y	1.000
15:69261099:C:T	S200F	1.000
15:69261106:A:C	Q202H	1.000
15:69261106:A:T	Q202H	1.000
15:69261107:T:A	W203R	1.000
15:69261107:T:C	W203R	1.000
15:69261109:G:C	W203C	1.000
15:69261109:G:T	W203C	1.000
15:69268445:G:T	R352M	1.000
15:69268446:G:C	R352S	1.000
15:69268446:G:T	R352S	1.000
15:69268463:T:C	L358P	1.000
15:69268471:G:A	G361R	1.000
15:69268471:G:C	G361R	1.000
15:69268654:T:A	W422R	1.000
15:69268654:T:C	W422R	1.000
15:69268711:T:A	W441R	1.000
15:69268711:T:C	W441R	1.000
15:69268732:G:A	G448R	1.000
15:69268732:G:C	G448R	1.000
15:69268732:G:T	G448W	1.000
15:69268888:T:C	Y500H	1.000
15:69268920:T:A	N510K	1.000
15:69268920:T:G	N510K	1.000
15:69269111:C:A	A574D	1.000

dbSNP variants (sampled 300 via entrez): RS1000024908 (15:69235385 G>A), RS1000113057 (15:69262838 A>G), RS1000114948 (15:69182523 A>G), RS1000130373 (15:69227643 G>A), RS1000133632 (15:69243085 G>A,T), RS1000166959 (15:69263066 G>C), RS1000171438 (15:69160344 T>G), RS1000190219 (15:69221025 T>G), RS1000241178 (15:69221378 C>T), RS1000246284 (15:69170013 A>G), RS1000270716 (15:69266504 T>G), RS1000284153 (15:69216544 T>A,C,G), RS1000294459 (15:69170407 A>G), RS1000298013 (15:69259018 A>T), RS1000359870 (15:69168976 G>A,T)

Disease associations

OMIM: gene MIM:612134 | 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
GCST006585_84	Blood protein levels	2.000000e-229

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
cobaltous chloride	decreases expression	2
(+)-JQ1 compound	increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Cyclosporine	decreases expression	2
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	decreases expression	1
resorcinol	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	increases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Amphotericin B	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Testosterone	decreases expression	1

Clinical trials (associated diseases)

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