DCXR

Summary

DCXR (dicarbonyl and L-xylulose reductase, HGNC:18985) is a protein-coding gene on chromosome 17q25.3, encoding L-xylulose reductase (Q7Z4W1). Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose.

The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 51181 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pentosuria (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 48 total
• Phenotypes (HPO): 5
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_016286

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18985
Approved symbol	DCXR
Name	dicarbonyl and L-xylulose reductase
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	KIDCR, DCR, SDR20C1, HCR2, P34H
Ensembl gene	ENSG00000169738
Ensembl biotype	protein_coding
OMIM	608347
Entrez	51181

Gene structure

Transcript identifiers

Ensembl transcripts: 45 — 31 protein_coding, 11 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000306869, ENST00000577286, ENST00000577532, ENST00000577712, ENST00000577996, ENST00000578273, ENST00000578885, ENST00000579004, ENST00000579155, ENST00000579334, ENST00000579821, ENST00000579842, ENST00000580320, ENST00000580750, ENST00000581584, ENST00000582074, ENST00000582613, ENST00000582900, ENST00000584318, ENST00000585085, ENST00000585164, ENST00000859702, ENST00000859703, ENST00000859704, ENST00000859705, ENST00000859706, ENST00000859707, ENST00000859708, ENST00000859709, ENST00000859710, ENST00000859711, ENST00000859712, ENST00000859713, ENST00000859714, ENST00000859715, ENST00000859716, ENST00000859717, ENST00000859718, ENST00000859719, ENST00000859720, ENST00000859721, ENST00000859722, ENST00000938655, ENST00000938656, ENST00000938657

RefSeq mRNA: 2 — MANE Select: NM_016286 NM_001195218, NM_016286

CCDS: CCDS11799

Canonical transcript exons

ENST00000306869 — 8 exons

Exon	Start	End
ENSE00002712109	82035858	82036063
ENSE00002715943	82037631	82037697
ENSE00003476322	82036191	82036308
ENSE00003477900	82036384	82036448
ENSE00003563823	82036544	82036643
ENSE00003670532	82037450	82037547
ENSE00003680426	82036721	82036763
ENSE00003684926	82036859	82037013

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 99.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 85.0427 / max 1917.5953, expressed in 1822 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168891	71.8817	1820
168890	8.3586	1676
168889	3.6070	1406
168892	1.1953	740

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.75	gold quality
liver	UBERON:0002107	99.30	gold quality
corpus epididymis	UBERON:0004359	98.72	gold quality
adult mammalian kidney	UBERON:0000082	98.65	gold quality
body of stomach	UBERON:0001161	98.49	gold quality
apex of heart	UBERON:0002098	98.46	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.45	gold quality
cerebellar hemisphere	UBERON:0002245	98.35	gold quality
cerebellar cortex	UBERON:0002129	98.31	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.16	gold quality
mucosa of stomach	UBERON:0001199	98.07	gold quality
gastrocnemius	UBERON:0001388	97.92	gold quality
lower esophagus mucosa	UBERON:0035834	97.90	gold quality
right ovary	UBERON:0002118	97.86	gold quality
minor salivary gland	UBERON:0001830	97.85	gold quality
adenohypophysis	UBERON:0002196	97.85	gold quality
prostate gland	UBERON:0002367	97.81	gold quality
right atrium auricular region	UBERON:0006631	97.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.78	gold quality
heart left ventricle	UBERON:0002084	97.74	gold quality
cerebellum	UBERON:0002037	97.71	gold quality
adult organism	UBERON:0007023	97.67	gold quality
metanephros cortex	UBERON:0010533	97.64	gold quality
mucosa of transverse colon	UBERON:0004991	97.62	gold quality
cardiac ventricle	UBERON:0002082	97.56	gold quality
left ovary	UBERON:0002119	97.49	gold quality
right frontal lobe	UBERON:0002810	97.48	gold quality
amygdala	UBERON:0001876	97.46	gold quality
anterior cingulate cortex	UBERON:0009835	97.44	gold quality
cingulate cortex	UBERON:0003027	97.41	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	3090.61
E-MTAB-10553	yes	42.21
E-HCAD-5	yes	18.75
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 16)

• highly expressed in kidney and liver (PMID:11882650)
• crystallization and preliminary crystallographic analysis (PMID:12136162)
• structure of the tetrameric form of human L-Xylulose reductase (PMID:15906319)
• Our results demonstrate that the proportion of positive P34H cases that produced embryos in vitro clearly differs from cases with undetectable levels of P34H (P<.001). (PMID:16616743)
• These results suggested that altered HCR2 expression might play roles in the carcinogenesis and progression of hepatocellular carcinoma. (PMID:16847567)
• A significant proportion of men investigated for male infertility may be epididymal protein P34H deficient. (PMID:17434498)
• Decreased membranous expression of DCXR with altered subcellular localization appears to be associated with malignant progression of melanocytic lesions in human skin. (PMID:17576332)
• DCXR trranfected into mice may function in the removal of renal alpha-dicarbonyl compounds under oxidative circumstances, but it is not sufficient to suppress acute renal fibrosis. (PMID:18079483)
• DCXR overexpression has the potential to be an additional useful biomarker for prostate cancer. (PMID:18086765)
• The action of human XR may be regulated by cellular redox conditions through reversible disulfide-bond formation and by S-cysteinylation. (PMID:19337691)
• combined frequency of the two mutant DCXR alleles in 1,067 Ashkenazi Jewish controls was 0.0173, suggesting a pentosuria frequency of approximately one in 3,300 in this population (PMID:22042873)
• EGCG is a potential inhibitor to human DCXR. (PMID:23661708)
• Low expression of DCXR is associated with hepatocellular carcinoma. (PMID:27658779)
• Ureaplasma urealyticum infection may affect the level of P34H protein expression on spermatozoa (PMID:28012250)
• identification of DCXR as an enzyme activity mediating chemical redox cycling suggests that it may be important in generating cytotoxic reactive oxygen species in the lung (PMID:28595002)
• DCXR promotes cell proliferation by promoting the activity of aerobic glycolysis in breast cancer. (PMID:36562355)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dcxr	ENSDARG00000079271
mus_musculus	Dcxr	ENSMUSG00000039450
rattus_norvegicus		ENSRNOG00000081885
drosophila_melanogaster	CG7322	FBGN0030968
caenorhabditis_elegans		WBGENE00000984

Protein

Protein identifiers

L-xylulose reductase — Q7Z4W1 (reviewed: Q7Z4W1)

Alternative names: Dicarbonyl/L-xylulose reductase, Kidney dicarbonyl reductase, Short chain dehydrogenase/reductase family 20C member 1, Sperm surface protein P34H

All UniProt accessions (9): A0A384NY14, Q7Z4W1, J3KRZ4, J3KS22, J3KSZ5, J3QL34, J3QRQ2, J3QS36, J3QS45

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose. Can use both NAD and NADP as cosubstrate but shows higher activity with NADP. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules.

Subunit / interactions. Homotetramer.

Subcellular location. Apical cell membrane. Cytoplasmic vesicle. Secretory vesicle. Acrosome.

Tissue specificity. Highly expressed in kidney, liver and epididymis (at protein level). In the epididymis, it is mainly expressed in the proximal and distal sections of the corpus region.

Disease relevance. Pentosuria (PNTSU) [MIM:260800] An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Competitively inhibited by butanoic acid, which binds to the enzyme-NADP(+) complex. Inhibited by 4-methyl-[1,2,3]-thiadiazole-5-carboxylic acid benzyloxyamide (MTB) and 4-methylthiophene-2-carboxylic acid N-(2,3,3-trichloroacryloyl)-hydrazide (MTT).

Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

RefSeq proteins (2): NP_001182147, NP_057370* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002347	SDR_fam	Family
IPR020904	Sc_DH/Rdtase_CS	Conserved_site
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily
IPR051737	L-xylulose/Carbonyl_redctase	Family

Pfam: PF13561

Enzyme classification (BRENDA):

• EC 1.1.1.10 — L-xylulose reductase (BRENDA: 22 organisms, 80 substrates, 57 inhibitors, 149 Km, 98 kcat entries)

Substrate kinetics (BRENDA)

22 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
DIACETYL	0.077–42	21
L-XYLULOSE	0.05–25	19
NADPH	0.002–97	14
XYLITOL	10–1239	12
NADP+	0.0007–0.153	9
D-RIBULOSE	4.7–150	7
D-ERYTHROSE	0.27–6	6
D-THREOSE	0.68–4	6
L-ERYTHRULOSE	0.17–5.5	6
ACETOIN	1.5–13	5
D-THREITOL	14–37	5
DL-GLYCERALDEHYDE	1.2–6	5
L-THREOSE	2.9–8.3	5
L-XYLITOL	0.0099–7.2	5
NADH	0.12–0.69	5

Catalyzed reactions (Rhea), 2 shown:

• xylitol + NADP(+) = L-xylulose + NADPH + H(+) (RHEA:17025)
• acetoin + NADP(+) = diacetyl + NADPH + H(+) (RHEA:35607)

UniProt features (46 total): binding site 14, helix 14, strand 7, active site 3, modified residue 3, mutagenesis site 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3D3W	X-RAY DIFFRACTION	1.87
1PR9	X-RAY DIFFRACTION	1.96
1WNT	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z4W1-F1	96.19	0.92

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 (3): 136 (nucleophile); 149 (proton acceptor); 153 (proton donor)

Ligand- & substrate-binding residues (14): 61; 83; 134; 149; 153; 182; 184; 185; 17; 19; 38; 39 …

Post-translational modifications (3): 1, 21, 46

Mutagenesis-validated functional residues (2):

Position	Phenotype
107	loss of function. probably due to defects in formation of the active site and binding of coenzyme.
138	reduces substrate affinity by 2-fold but slightly increases the catalytic efficiency.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-5661270	Formation of xylulose-5-phosphate
R-HSA-5662853	Essential pentosuria

MSigDB gene sets: 215 (showing top): HORIUCHI_WTAP_TARGETS_DN, GNF2_GSTM1, GOBP_NADPPLUS_METABOLIC_PROCESS, GNF2_HPN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GNF2_LCAT, GOBP_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP

GO Biological Process (7): xylulose metabolic process (GO:0005997), glucose metabolic process (GO:0006006), NADP+ metabolic process (GO:0006739), obsolete D-glucuronate catabolic process to D-xylulose 5-phosphate (GO:0019640), D-xylose metabolic process (GO:0042732), positive regulation of reactive oxygen species metabolic process (GO:2000379), small molecule metabolic process (GO:0044281)

GO Molecular Function (7): carbonyl reductase (NADPH) activity (GO:0004090), oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655), identical protein binding (GO:0042802), L-xylulose reductase (NADPH) activity (GO:0050038), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on CH-OH group of donors (GO:0016614)

GO Cellular Component (9): nucleus (GO:0005634), mitochondrion (GO:0005739), cytosol (GO:0005829), cytoplasmic microtubule (GO:0005881), plasma membrane (GO:0005886), microvillus (GO:0005902), brush border (GO:0005903), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of carbohydrates and carbohydrate derivatives	1
Diseases of carbohydrate metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
pentose metabolic process	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
hexose metabolic process	1
purine nucleotide metabolic process	1
nicotinamide nucleotide metabolic process	1
positive regulation of metabolic process	1
reactive oxygen species metabolic process	1
regulation of reactive oxygen species metabolic process	1
metabolic process	1
alcohol dehydrogenase (NADP+) activity	1
oxidoreductase activity, acting on NAD(P)H	1
protein binding	1
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	1
binding	1
catalytic activity	1
oxidoreductase activity	1
microtubule	1
membrane	1
cell periphery	1
actin filament bundle	1
actin-based cell projection	1
microvillus	1
apical part of cell	1
cluster of actin-based cell projections	1
extracellular vesicle	1

Protein interactions and networks

STRING

764 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCXR	TNFRSF10C	O14798	583
DCXR	TNFRSF10B	O14763	572
DCXR	TNFRSF10D	Q9UBN6	572
DCXR	TNFRSF10A	O00220	570
DCXR	AKR1B1	P15121	525
DCXR	FASLG	P48023	506
DCXR	PPP1R3E	Q9H7J1	492
DCXR	ADAM7	Q9H2U9	487
DCXR	TNFRSF6B	O95407	446
DCXR	ANKRD10	Q9NXR5	438
DCXR	SORD	Q00796	426
DCXR	MIGA2	Q7L4E1	419
DCXR	SLC35E3	Q7Z769	415
DCXR	RNF217	Q8TC41	412
DCXR	AEN	Q8WTP8	412

IntAct

49 interactions, top by confidence:

A	B	Type	Score
DCXR	DCXR	psi-mi:“MI:0915”(physical association)	0.740
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
DCXR	GLRX2	psi-mi:“MI:0915”(physical association)	0.560
DEF6	ARHGAP42	psi-mi:“MI:0914”(association)	0.530
ASB6	POLR2D	psi-mi:“MI:0914”(association)	0.530
SDCBP	TARS3	psi-mi:“MI:0914”(association)	0.530
CRADD	DCXR	psi-mi:“MI:0915”(physical association)	0.370
JUN		psi-mi:“MI:0914”(association)	0.350
SPHK1	TAF4	psi-mi:“MI:0914”(association)	0.350
SPHK1	MYO1C	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
SPHK1	DHPS	psi-mi:“MI:0914”(association)	0.350
DMWD	P4HA2	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
NEK7	SUPT5H	psi-mi:“MI:0914”(association)	0.350
SPDYE4	RPS10-NUDT3	psi-mi:“MI:0914”(association)	0.350
HCN1	USP27X	psi-mi:“MI:0914”(association)	0.350
DCXR	BLTP3B	psi-mi:“MI:0914”(association)	0.350
	POLRMT	psi-mi:“MI:0914”(association)	0.350
	RTCA	psi-mi:“MI:0914”(association)	0.350
SPHK1	ALDH3B1	psi-mi:“MI:0914”(association)	0.350
DNAJC30	UBA6	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
PEX7	UBA6	psi-mi:“MI:0914”(association)	0.350
SMPD2	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (103): DCXR (Two-hybrid), DCXR (Affinity Capture-MS), DCXR (Affinity Capture-MS), DCXR (Affinity Capture-MS), C11orf54 (Co-fractionation), CAB39 (Co-fractionation), CAB39L (Co-fractionation), DCXR (Co-fractionation), DCXR (Co-fractionation), DCXR (Co-fractionation), DCXR (Co-fractionation), GOT1 (Co-fractionation), DCXR (Affinity Capture-MS), DCXR (Affinity Capture-MS), DCXR (Affinity Capture-MS)

ESM2 similar proteins: A0QYC2, B8H1Z0, C1C4R8, D4A1J4, O02691, O18404, O34896, O70351, O86034, P08074, P0A9P9, P15047, P23238, P37769, P39071, P39831, P45200, P50205, P50842, P69935, P69936, Q05528, Q15SS0, Q1JP75, Q29529, Q3KPT7, Q3T046, Q48436, Q561X9, Q7Z4W1, Q83RE8, Q8FHD2, Q8JIS3, Q8JZV9, Q8U8I2, Q8X505, Q91X52, Q91XV4, Q920N9, Q920P0

Diamond homologs: A0A0H3KNE7, A0A165U5V5, A0A1L5BU05, A0A1L5BUG8, A0A3Q8GLE8, A0A3Q8GYY4, A0A7T8F1N2, A0A8F5SIS3, A0A8F5XX49, A0A8I6GJ95, A0AAT9JA24, A0QYC2, A3F5F0, A7AZH2, A7B3K3, A7IQF2, A7IQH5, A9CES4, C1DMX5, C8WJW0, D4YYG1, D4Z260, E9Q3D4, F4J2Z7, F4J300, H9BFQ0, H9XP47, N4WE73, O07575, O80714, P05406, P0A2D1, P0A2D2, P0AEK2, P0AEK3, P0DKI3, P0DXE0, P0DXE1, P10528, P16543

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 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
ESR-mediated signaling	5	17.8×	3e-03
Signaling by Nuclear Receptors	5	14.2×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	3
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1184 predictions. Top by Δscore:

Variant	Effect	Δscore
17:82036185:ACT:A	donor_loss	1.0000
17:82036186:CTC:C	donor_loss	1.0000
17:82036187:TCAC:T	donor_loss	1.0000
17:82036190:C:CA	donor_loss	1.0000
17:82036309:C:CC	acceptor_gain	1.0000
17:82036855:TCACC:T	donor_loss	1.0000
17:82036856:CAC:C	donor_loss	1.0000
17:82036857:A:AC	donor_gain	1.0000
17:82036858:C:CC	donor_gain	1.0000
17:82036858:C:CG	donor_loss	1.0000
17:82036871:T:TA	donor_gain	1.0000
17:82036875:TGGTG:T	donor_gain	1.0000
17:82037014:C:CC	acceptor_gain	1.0000
17:82036064:C:CC	acceptor_gain	0.9900
17:82036189:A:AC	donor_gain	0.9900
17:82036190:C:CC	donor_gain	0.9900
17:82036190:CCAG:C	donor_gain	0.9900
17:82036278:CCA:C	acceptor_gain	0.9900
17:82036279:CAC:C	acceptor_gain	0.9900
17:82036281:C:CC	acceptor_gain	0.9900
17:82036304:CGGAT:C	acceptor_gain	0.9900
17:82036307:ATCT:A	acceptor_loss	0.9900
17:82036447:GCCTA:G	acceptor_loss	0.9900
17:82036542:A:AC	donor_gain	0.9900
17:82036543:C:CC	donor_gain	0.9900
17:82036764:C:CC	acceptor_gain	0.9900
17:82036772:C:CT	acceptor_gain	0.9900
17:82036772:C:T	acceptor_gain	0.9900
17:82036773:G:T	acceptor_gain	0.9900
17:82036858:CCTGT:C	donor_gain	0.9900

AlphaMissense

1566 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:82036438:C:A	K153N	0.997
17:82036438:C:G	K153N	0.997
17:82036297:A:C	N175K	0.993
17:82036297:A:T	N175K	0.993
17:82036593:A:C	N133K	0.993
17:82036593:A:T	N133K	0.993
17:82036918:G:C	N82K	0.993
17:82036918:G:T	N82K	0.993
17:82036588:G:A	S135F	0.992
17:82036584:G:C	S136R	0.991
17:82036584:G:T	S136R	0.991
17:82036586:T:G	S136R	0.991
17:82036296:C:G	A176P	0.989
17:82037493:G:T	A36D	0.989
17:82037642:C:T	G14E	0.989
17:82036547:A:G	Y149H	0.988
17:82037631:C:G	G18R	0.987
17:82037643:C:A	G14W	0.987
17:82036292:A:T	V177E	0.986
17:82036585:C:A	S136I	0.985
17:82036588:G:T	S135Y	0.985
17:82036597:A:T	V132E	0.985
17:82036748:G:C	N107K	0.985
17:82036748:G:T	N107K	0.985
17:82036439:T:G	K153T	0.984
17:82036447:G:C	C150W	0.984
17:82036000:C:T	G232D	0.983
17:82036286:G:T	P179H	0.983
17:82036307:A:G	I172T	0.983
17:82036551:G:C	S147R	0.983

dbSNP variants (sampled 300 via entrez): RS1000912707 (17:82035750 T>C,G), RS1001417646 (17:82036052 C>A,G,T), RS1001616198 (17:82035430 C>T), RS1001775617 (17:82035534 G>A,C), RS1003243857 (17:82039201 C>A,G), RS1003383425 (17:82038464 C>T), RS1003420597 (17:82039019 A>C,T), RS1004078404 (17:82037257 G>A), RS1004096922 (17:82039456 G>A), RS1004553522 (17:82039221 A>G), RS1004958485 (17:82035858 C>A,G,T), RS1005089461 (17:82035408 G>A,C), RS1006126343 (17:82036408 C>A,T), RS1006182562 (17:82038344 C>G), RS1006203899 (17:82037441 G>A)

Disease associations

OMIM: gene MIM:608347 | disease phenotypes: MIM:260800

GenCC curated gene-disease

Disease	Classification	Inheritance
pentosuria	Moderate	Autosomal recessive

Mondo (1): pentosuria (MONDO:0009846)

Orphanet (1): Pentosuria (Orphanet:2843)

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0011013	Abnormal circulating carbohydrate concentration
HP:0011021	Abnormal circulating enzyme concentration
HP:0025742	Elevated urine L-xylulose level
HP:0031979	Abnormal urine carbohydrate level

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_133	Refractive error	2.000000e-50

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536652	Pentosuria (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2314 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.02	Kd	0.963	nM	CHEMBL5653589
9.02	ED50	0.963	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 13 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148207: Binding affinity to human DCXR incubated for 45 mins by Kinobead based pull down assay	kd	0.0010	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
Tobacco Smoke Pollution	affects expression, decreases expression	5
(+)-JQ1 compound	increases expression	4
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	3
bisphenol F	increases expression, affects cotreatment	2
bisphenol A	decreases expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	2
Aerosols	decreases expression	2
Benzo(a)pyrene	decreases expression	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
NADP	increases reduction, increases activity, affects binding, affects cotreatment, decreases reaction	2
Tretinoin	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
Vitamin K 3	decreases reaction, increases chemical synthesis, increases metabolic processing, affects binding, affects cotreatment (+2 more)	2
GSK-J4	increases expression	1
beauvericin	affects cotreatment, decreases expression	1
2,4,6-tribromophenol	decreases expression	1
methyleugenol	decreases expression	1
9,10-phenanthrenequinone	increases reduction, increases metabolic processing, affects cotreatment, decreases reaction, increases chemical synthesis	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	decreases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
1,4-naphthoquinone	affects cotreatment, decreases reaction, increases chemical synthesis, increases reduction, increases metabolic processing	1
2,6-dimethyl-1,4-benzoquinone	affects binding, affects cotreatment	1
hexanoic acid	affects cotreatment, decreases reaction, increases reduction	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651249	Binding	Binding affinity to human DCXR incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2VS	Abcam HEK293T DCXR KO	Transformed cell line	Female

Clinical trials (associated diseases)

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