ADPGK

Summary

ADPGK (ADP dependent glucokinase, HGNC:25250) is a protein-coding gene on chromosome 15q24.1, encoding ADP-dependent glucokinase (Q9BRR6). Catalyzes the phosphorylation of D-glucose to D-glucose 6-phosphate using ADP as the phosphate donor.

ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).

Source: NCBI Gene 83440 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 105 total — 14 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001365225

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25250
Approved symbol	ADPGK
Name	ADP dependent glucokinase
Location	15q24.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434B195, ADP-GK
Ensembl gene	ENSG00000159322
Ensembl biotype	protein_coding
OMIM	611861
Entrez	83440

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 18 protein_coding, 6 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000311669, ENST00000456471, ENST00000562286, ENST00000562621, ENST00000562823, ENST00000563907, ENST00000565814, ENST00000566509, ENST00000567733, ENST00000567941, ENST00000569058, ENST00000569517, ENST00000569534, ENST00000569693, ENST00000853928, ENST00000853929, ENST00000853930, ENST00000853931, ENST00000853932, ENST00000853933, ENST00000853934, ENST00000853935, ENST00000853936, ENST00000853937, ENST00000931831, ENST00000931832, ENST00000957652, ENST00000957653

RefSeq mRNA: 8 — MANE Select: NM_001365225 NM_001365223, NM_001365224, NM_001365225, NM_001365226, NM_001365227, NM_001365228, NM_001365229, NM_031284

CCDS: CCDS42057, CCDS92041

Canonical transcript exons

ENST00000456471 — 7 exons

Exon	Start	End
ENSE00001761975	72751294	72752895
ENSE00003467384	72755556	72755654
ENSE00003494615	72774872	72775097
ENSE00003518570	72756251	72756447
ENSE00003527726	72760407	72760527
ENSE00003605860	72771783	72771845
ENSE00003918885	72783459	72783758

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 97.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.6313 / max 505.7435, expressed in 1820 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150844	22.3827	1819
150843	0.9460	447
150841	0.3026	106

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	97.95	gold quality
monocyte	CL:0000576	97.65	gold quality
mononuclear cell	CL:0000842	97.64	gold quality
secondary oocyte	CL:0000655	97.50	gold quality
leukocyte	CL:0000738	97.50	gold quality
granulocyte	CL:0000094	96.70	gold quality
spleen	UBERON:0002106	95.79	gold quality
bone marrow cell	CL:0002092	95.46	gold quality
blood	UBERON:0000178	95.38	gold quality
upper lobe of left lung	UBERON:0008952	94.74	gold quality
vermiform appendix	UBERON:0001154	94.71	gold quality
body of pancreas	UBERON:0001150	94.58	gold quality
bone marrow	UBERON:0002371	94.58	gold quality
stromal cell of endometrium	CL:0002255	94.53	gold quality
upper lobe of lung	UBERON:0008948	94.21	gold quality
lymph node	UBERON:0000029	93.92	gold quality
right lung	UBERON:0002167	93.82	gold quality
rectum	UBERON:0001052	93.19	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.14	gold quality
minor salivary gland	UBERON:0001830	92.92	gold quality
caecum	UBERON:0001153	92.81	gold quality
omental fat pad	UBERON:0010414	92.81	gold quality
tonsil	UBERON:0002372	92.80	gold quality
peritoneum	UBERON:0002358	92.77	gold quality
right uterine tube	UBERON:0001302	92.62	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.45	gold quality
skin of abdomen	UBERON:0001416	92.33	gold quality
tibia	UBERON:0000979	92.29	gold quality
tibial nerve	UBERON:0001323	92.20	gold quality
gall bladder	UBERON:0002110	92.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting ADPGK, 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-8485	100.00	77.57	4731
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-6126	99.62	68.09	996
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-4687-3P	99.48	66.41	968

Literature-anchored findings (GeneRIF, showing 9)

• The presence of mild persistent hyperglycemia in any patient without autoantibodies should lead to genetic analysis of glucokinase, particularly if there is a positive family history. (PMID:19309449)
• Glucose and insulin response to oral glucose is higher in GCK(261) carriers, indicating clinical heterogeneity in GCK maturity diabetes carriers. (PMID:19903754)
• human ADPGK(ADP-dependent glucokinase) catalyses ADP-dependent phosphorylation of glucose in vitro, but despite its high expression in human tumour cell lines it appears not to make a quantifiable contribution to glycolysis under the conditions evaluated. (PMID:22219026)
• ADPGK can contribute to tumour cell survival under conditions of high glycolytic dependence. (PMID:23799003)
• ADPGK is substrate inhibited by high glucose concentration and shows high specificity for glucose, with no activity for other sugars, as determined by NMR spectroscopy, including 2-deoxyglucose (PMID:26555263)
• ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing. (PMID:31582762)
• ADPGK-AS1 promotes the progression of colorectal cancer via sponging miR-525 to upregulate FUT1. (PMID:32196589)
• ADP-dependent glucokinase as a novel onco-target for haematological malignancies. (PMID:32788680)
• Kinetic characterization and phylogenetic analysis of human ADP-dependent glucokinase reveal new insights into its regulatory properties. (PMID:37084804)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	adpgk	ENSDARG00000063525
mus_musculus	Adpgk	ENSMUSG00000025236
rattus_norvegicus	Adpgk	ENSRNOG00000026178
caenorhabditis_elegans		WBGENE00016810

Protein

Protein identifiers

ADP-dependent glucokinase — Q9BRR6 (reviewed: Q9BRR6)

Alternative names: RbBP-35

All UniProt accessions (6): Q9BRR6, H3BN66, H3BRS6, H3BTH4, H3BU35, H3BUC3

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the phosphorylation of D-glucose to D-glucose 6-phosphate using ADP as the phosphate donor. GDP and CDP can replace ADP, but with reduced efficiency.

Subunit / interactions. Monomer.

Subcellular location. Secreted.

Cofactor. Binds 1 Mg(2+) ion per subunit.

Pathway. Carbohydrate degradation; glycolysis.

Similarity. Belongs to the ADP-dependent glucokinase family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9BRR6-1	1	yes
Q9BRR6-2	2
Q9BRR6-3	3
Q9BRR6-4	4
Q9BRR6-5	5
Q9BRR6-6	6

RefSeq proteins (8): NP_001352152, NP_001352153, NP_001352154, NP_001352155, NP_001352156, NP_001352157, NP_001352158, NP_112574 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007666	ADP_PFK/GK	Family
IPR029056	Ribokinase-like	Homologous_superfamily

Pfam: PF04587

Enzyme classification (BRENDA):

• EC 2.7.1.147 — ADP-specific glucose/glucosamine kinase (BRENDA: 15 organisms, 72 substrates, 26 inhibitors, 67 Km, 38 kcat entries)

Substrate kinetics (BRENDA)

6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ADP	0.008–16	32
D-GLUCOSE	0.0011–134	28
D-GLUCOSAMINE	0.33	2
GDP	2.9–20	2
D-FRUCTOSE 6-PHOSPHATE	0.065	1
D-GLUCOSE 6-PHOSPHATE	0.623	1

Catalyzed reactions (Rhea), 1 shown:

• D-glucose + ADP = D-glucose 6-phosphate + AMP + H(+) (RHEA:11460)

UniProt features (16 total): splice variant 8, binding site 3, signal peptide 1, chain 1, sequence variant 1, domain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BRR6-F1	91.36	0.84

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): 481 (proton acceptor)

Ligand- & substrate-binding residues (3): 297; 328; 481

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-70171	Glycolysis
R-HSA-1430728	Metabolism
R-HSA-70326	Glucose metabolism
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives

MSigDB gene sets: 179 (showing top): GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GNF2_BNIP2, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, WEI_MYCN_TARGETS_WITH_E_BOX, BRN2_01, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, ACATTCC_MIR1_MIR206, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, GOBP_GLUCOSE_METABOLIC_PROCESS

GO Biological Process (4): glucose metabolic process (GO:0006006), glycolytic process through glucose-6-phosphate (GO:0061620), carbohydrate metabolic process (GO:0005975), glycolytic process (GO:0006096)

GO Molecular Function (5): ADP-specific glucokinase activity (GO:0043843), metal ion binding (GO:0046872), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphotransferase activity, alcohol group as acceptor (GO:0016773)

GO Cellular Component (4): extracellular region (GO:0005576), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transferase activity, transferring phosphorus-containing groups	2
cellular anatomical structure	2
hexose metabolic process	1
glucose-6-phosphate isomerase activity	1
glycolytic process through fructose-6-phosphate	1
primary metabolic process	1
phosphoglycerate kinase activity	1
phosphoglycerate mutase activity	1
phosphopyruvate hydratase activity	1
pyruvate kinase activity	1
pyruvate metabolic process	1
generation of precursor metabolites and energy	1
aerobic respiration	1
carbohydrate catabolic process	1
pyridine nucleotide catabolic process	1
glyceraldehyde-3-phosphate dehydrogenase [NAD(P)+] (phosphorylating) activity	1
ADP catabolic process	1
ATP metabolic process	1
nicotinamide nucleotide metabolic process	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
cation binding	1
catalytic activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1

Protein interactions and networks

STRING

988 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADPGK	GCK	P35557	836
ADPGK	GALK1	P51570	778
ADPGK	REPS1	Q96D71	763
ADPGK	DPAGT1	Q9H3H5	597
ADPGK	AATF	Q9NY61	548
ADPGK	TLR9	Q9NR96	485
ADPGK	GPI	P06744	478
ADPGK	TPI1	P00938	469
ADPGK	PGK1	P00558	468
ADPGK	IRGQ	Q8WZA9	462
ADPGK	CPNE1	Q99829	455
ADPGK	PLD3	Q8IV08	434
ADPGK	SLC2A4	P14672	432
ADPGK	SLC25A6	P12236	429
ADPGK	MED12	Q93074	428
ADPGK	DMXL1	Q9Y485	428

IntAct

78 interactions, top by confidence:

A	B	Type	Score
STX7	SNAP23	psi-mi:“MI:0914”(association)	0.640
ABCD4	ABCD4	psi-mi:“MI:0914”(association)	0.640
STX12	SNAP23	psi-mi:“MI:0914”(association)	0.640
SLC17A5	LGALS8	psi-mi:“MI:0914”(association)	0.640
FAM234B	ABCD4	psi-mi:“MI:0914”(association)	0.620
CSGALNACT2	GOLIM4	psi-mi:“MI:0914”(association)	0.530
HMOX2	PRAF2	psi-mi:“MI:0914”(association)	0.530
ARMC6	SLC27A2	psi-mi:“MI:0914”(association)	0.530
TOR1AIP1	TXN	psi-mi:“MI:0914”(association)	0.530
CSGALNACT2	TPST1	psi-mi:“MI:0914”(association)	0.530
PLTP	SEL1L3	psi-mi:“MI:0914”(association)	0.530
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
incE	STX7	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
rep	GPR89A	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
RUSF1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
STX12	NBAS	psi-mi:“MI:0914”(association)	0.350
STX7	TYW5	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
SLC39A12		psi-mi:“MI:0914”(association)	0.350
TMEM30A	TLCD2	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350
ADPGK	TOR1B	psi-mi:“MI:0914”(association)	0.350

BioGRID (139): ADPGK (Affinity Capture-MS), ADPGK (Affinity Capture-MS), ADPGK (Affinity Capture-MS), ADPGK (Affinity Capture-MS), ADPGK (Affinity Capture-MS), ADPGK (Affinity Capture-MS), ADPGK (Affinity Capture-MS), TIMP3 (Affinity Capture-MS), GALNT7 (Affinity Capture-MS), UGT8 (Affinity Capture-MS), TOR1B (Affinity Capture-MS), ADPGK (Affinity Capture-MS), MGAT1 (Affinity Capture-MS), ADPGK (Affinity Capture-MS), EPHB4 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3NGV2, A2VE47, A4IG72, A7E2V1, D3Z2R5, F1PCT7, O43909, P02786, P04844, P25235, P57716, Q07891, Q0VCN6, Q28120, Q28DV7, Q2V905, Q5R9Q9, Q5RBM1, Q5RDH6, Q5XIA1, Q5ZJH2, Q5ZL00, Q62351, Q64255, Q6DDX8, Q6NZ07, Q7TMC8, Q8BXQ2, Q8C7X2, Q8CGU6, Q8K224, Q8N766, Q8N961, Q8R553, Q8VCM8, Q8VDL4, Q92542, Q969N2, Q969V3, Q99JH7

Diamond homologs: A2VE47, Q86S40, Q8VDL4, Q9BRR6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 105 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
Amino acid transport across the plasma membrane	5	23.9×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
amino acid transport	7	24.0×	9e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	2
Uncertain significance	78
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1353978	NC_000015.9:g.(?72978569)(75722716_?)del	Pathogenic
153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	Pathogenic
154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	Pathogenic
253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	Pathogenic
253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	Pathogenic
2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	Pathogenic
443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	Pathogenic
560117	Single allele	Pathogenic
564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	Pathogenic
57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	Pathogenic
57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	Pathogenic
687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	Pathogenic
687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	Pathogenic
688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	Pathogenic
148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	Likely pathogenic
545182	Single allele	Likely pathogenic

SpliceAI

1640 predictions. Top by Δscore:

Variant	Effect	Δscore
15:72755651:CAAC:C	acceptor_gain	1.0000
15:72755653:ACC:A	acceptor_loss	1.0000
15:72755655:C:A	acceptor_loss	1.0000
15:72755656:T:G	acceptor_loss	1.0000
15:72756265:T:TA	donor_gain	1.0000
15:72756377:CCCGT:C	acceptor_gain	1.0000
15:72756378:CCGT:C	acceptor_gain	1.0000
15:72756379:C:CT	acceptor_gain	1.0000
15:72756379:C:T	acceptor_gain	1.0000
15:72756391:CG:C	acceptor_gain	1.0000
15:72771841:TAGTG:T	acceptor_gain	1.0000
15:72771846:C:CC	acceptor_gain	1.0000
15:72774921:T:TA	donor_gain	1.0000
15:72775096:CT:C	acceptor_gain	1.0000
15:72752793:C:CT	acceptor_gain	0.9900
15:72752799:A:T	acceptor_gain	0.9900
15:72755550:GGTTA:G	donor_loss	0.9900
15:72755551:GTTAC:G	donor_loss	0.9900
15:72755552:TTAC:T	donor_loss	0.9900
15:72755553:TA:T	donor_loss	0.9900
15:72755554:A:T	donor_loss	0.9900
15:72755555:C:CA	donor_loss	0.9900
15:72755582:C:CA	donor_gain	0.9900
15:72755650:ACAAC:A	acceptor_gain	0.9900
15:72755651:CAACC:C	acceptor_gain	0.9900
15:72755655:C:CC	acceptor_gain	0.9900
15:72756245:CATTA:C	donor_loss	0.9900
15:72756246:ATTAC:A	donor_loss	0.9900
15:72756247:TTAC:T	donor_loss	0.9900
15:72756248:TACC:T	donor_loss	0.9900

AlphaMissense

1445 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000035793 (15:72766725 A>G), RS1000059638 (15:72783074 A>G), RS1000090223 (15:72782773 C>T), RS1000152365 (15:72756529 C>G), RS1000227864 (15:72756110 G>A), RS1000497223 (15:72784203 T>C,G), RS1000640083 (15:72761666 G>GA), RS1000651131 (15:72777974 C>T), RS1000710129 (15:72761302 G>GT), RS1000786886 (15:72770700 T>C), RS1000801273 (15:72768349 C>T), RS1000883278 (15:72751370 C>T), RS1000959292 (15:72774990 T>A,G), RS1001020360 (15:72778330 T>G), RS1001107008 (15:72782461 G>A)

Disease associations

OMIM: gene MIM:611861 | disease phenotypes: MIM:272800, MIM:613123, MIM:209900, MIM:613406, MIM:181500

GenCC curated gene-disease

Mondo (5): Tay-Sachs disease (MONDO:0010100), Brugada syndrome 8 (MONDO:0013148), Bardet-Biedl syndrome (MONDO:0015229), chromosome 15q24 deletion syndrome (MONDO:0013256), schizophrenia (MONDO:0005090)

Orphanet (5): Tay-Sachs disease (Orphanet:845), Brugada syndrome (Orphanet:130), Bardet-Biedl syndrome (Orphanet:110), 15q24 microdeletion syndrome (Orphanet:94065), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0100753	Schizophrenia

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST001791_10	Urate levels	2.000000e-07
GCST004237_24	Triglyceride levels	3.000000e-07
GCST004495_141	BMI (adjusted for smoking behaviour)	2.000000e-07
GCST004497_70	Body mass index (joint analysis main effects and smoking interaction)	6.000000e-07
GCST004499_4	BMI in non-smokers	6.000000e-06
GCST004557_28	Body mass index	1.000000e-08
GCST004558_25	Body mass index (joint analysis main effects and physical activity interaction)	4.000000e-08
GCST004559_21	Body mass index in physically active individuals	8.000000e-07
GCST005830_136	Hand grip strength	2.000000e-09
GCST005956_11	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST005962_52	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-07
GCST010988_205	Adult body size	4.000000e-14

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004530	triglyceride measurement
EFO:0004318	smoking behavior
EFO:0004340	body mass index
EFO:0008002	physical activity measurement
EFO:0006941	grip strength measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D013661	Tay-Sachs Disease	C10.228.140.163.100.435.825.300.300.500; C16.320.565.189.435.825.300.300.500; C16.320.565.398.641.803.350.300.850; C16.320.565.595.554.825.300.300.840; C18.452.132.100.435.825.300.300.500; C18.452.584.563.641.803.350.300.850; C18.452.648.189.435.825.300.300.500; C18.452.648.398.641.803.350.300.850; C18.452.648.595.554.825.300.300.840
C579849	15q24 Microdeletion (supp.)
C567732	Brugada Syndrome 8 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol F	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
bisphenol A	decreases expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
azaspiracid	increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arsenic	affects methylation	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Dimercaprol	affects binding, decreases reaction	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2R7	Abcam HEK293T ADPGK KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02030015	PHASE4	TERMINATED	Synergistic Enteral Regimen for Treatment of the Gangliosidoses
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients