DBI

Summary

DBI (diazepam binding inhibitor, acyl-CoA binding protein, HGNC:2690) is a protein-coding gene on chromosome 2q14.2, encoding Acyl-CoA-binding protein (P07108). Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters.

This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene.

Source: NCBI Gene 1622 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 21 total
• Druggable target: yes
• MANE Select transcript: NM_001079862

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2690
Approved symbol	DBI
Name	diazepam binding inhibitor, acyl-CoA binding protein
Location	2q14.2
Locus type	gene with protein product
Status	Approved
Aliases	ACBP, ACBD1
Ensembl gene	ENSG00000155368
Ensembl biotype	protein_coding
OMIM	125950
Entrez	1622

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000311521, ENST00000355857, ENST00000393103, ENST00000409094, ENST00000460901, ENST00000475783, ENST00000492375, ENST00000535617, ENST00000535757, ENST00000627093, ENST00000627305, ENST00000913064, ENST00000913065, ENST00000913066

RefSeq mRNA: 12 — MANE Select: NM_001079862 NM_001079862, NM_001079863, NM_001178017, NM_001178041, NM_001178042, NM_001178043, NM_001282633, NM_001282634, NM_001282635, NM_001282636, NM_001352432, NM_020548

CCDS: CCDS2126, CCDS42740, CCDS42741, CCDS54390, CCDS54391, CCDS74568

Canonical transcript exons

ENST00000355857 — 4 exons

Exon	Start	End
ENSE00002317965	119372245	119372543
ENSE00003592668	119370740	119370802
ENSE00003674746	119368188	119368305
ENSE00003772551	119366977	119367060

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 335.9194 / max 7395.9481, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
22265	333.2084	1823
22269	2.4025	1031
22267	0.1599	49
22266	0.1486	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mammalian vulva	UBERON:0000997	99.68	gold quality
gingival epithelium	UBERON:0001949	99.65	gold quality
mucosa of transverse colon	UBERON:0004991	99.65	gold quality
sperm	CL:0000019	99.64	gold quality
gingiva	UBERON:0001828	99.64	gold quality
upper leg skin	UBERON:0004262	99.63	gold quality
oral cavity	UBERON:0000167	99.59	gold quality
pharyngeal mucosa	UBERON:0000355	99.58	gold quality
penis	UBERON:0000989	99.57	gold quality
skin of hip	UBERON:0001554	99.50	gold quality
spinal cord	UBERON:0002240	99.49	gold quality
ventricular zone	UBERON:0003053	99.49	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.47	gold quality
body of tongue	UBERON:0011876	99.47	gold quality
male germ cell	CL:0000015	99.46	gold quality
amygdala	UBERON:0001876	99.45	gold quality
right lobe of liver	UBERON:0001114	99.42	gold quality
tongue	UBERON:0001723	99.42	gold quality
esophagus mucosa	UBERON:0002469	99.42	gold quality
tongue squamous epithelium	UBERON:0006919	99.42	gold quality
endothelial cell	CL:0000115	99.41	gold quality
ventral tegmental area	UBERON:0002691	99.41	gold quality
medulla oblongata	UBERON:0001896	99.40	gold quality
superior surface of tongue	UBERON:0007371	99.40	gold quality
heart right ventricle	UBERON:0002080	99.39	gold quality
skin of abdomen	UBERON:0001416	99.37	gold quality
inferior vagus X ganglion	UBERON:0005363	99.37	gold quality
superior vestibular nucleus	UBERON:0007227	99.37	gold quality
zone of skin	UBERON:0000014	99.36	gold quality
upper arm skin	UBERON:0004263	99.35	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 21.

Experiment	Marker?	Max mean expression
E-MTAB-8498	yes	5016.79
E-GEOD-84465	yes	4281.58
E-MTAB-11121	yes	2798.02
E-GEOD-93593	yes	880.44
E-CURD-88	yes	458.18
E-HCAD-1	yes	227.54
E-HCAD-4	yes	71.54
E-HCAD-6	yes	54.16
E-HCAD-9	yes	53.59
E-HCAD-5	yes	51.67
E-GEOD-137537	yes	38.48
E-HCAD-10	yes	35.23
E-MTAB-10553	yes	31.73
E-MTAB-7316	yes	30.66
E-CURD-122	yes	20.54

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, ESR1, HMGA2, NFIA, NFKB, PPARA, PPARG, RXRA, SREBF1, TCF23

miRNA regulators (miRDB)

41 targeting DBI, 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-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 30)

• PPRE in intron 1 of the ACBP gene is a bona fide PPARgamma-response element. (PMID:12015306)
• ACBP has a role as an essential protein in human cells (PMID:12396232)
• Missense changes in diazepam binding inhibitorwere not associated with schizophrenia (PMID:14755437)
• Data show for the first time in a physiological context that transgenic expression of acyl-coenzyme A binding protein may play a role in liver fatty acyl-coenzyme A metabolism. (PMID:16042405)
• Results identify new acyl-CoA binding protein transcripts in human and mouse tissues, generated by alternative first exon usage. (PMID:16055366)
• Acyl coenzyme A-binding protein has a role in augmenting bid-induced mitochondrial damage and cell death by activating mu-calpain (PMID:16908521)
• Here high resolution crystal structures of human cytosolic liver ACBP, unliganded and liganded with a physiological ligand, myristoyl-CoA are described. The binding of the acyl-CoA molecule induces only few structural differences near the binding pocket (PMID:17044054)
• we obtained evidence from two Caucasian study populations that the minor allele of ACBP rs2084202 might be associated with reduced risk of type 2 diabetes (PMID:17262885)
• study found a significant difference in the +529A/T (rs8192503) polymorphism allele frequency of the DBI gene between the alcoholics & controls; data suggest that mutation allele of the DBI gene polymorphism was one of the risk factors for alcoholism (PMID:18240651)
• ACBP is a transcriptional regulator of the HMGCS1 and HMGCR genes encoding rate-limiting enzymes of cholesterol synthesis pathway. (PMID:19088433)
• Data suggest that the presence of gamma-glutamyl hydrolase and diazepam-binding inhibitor in urine serves as a rationale for developing them as urinary markers of clinical outcomes for patients treated with neoadjuvant chemotherapy. (PMID:19815704)
• The regulation of novel low-abundance transcript variants of human acyl-CoA binding protein, was analysed. (PMID:20345851)
• Gene annotation enrichment analysis revealed ACBP-mediated down-regulation of 18 genes encoding key enzymes in glycerolipid, cholesterol and fatty acid metabolism. (PMID:20511713)
• A human preadipocyte cell line SGBS is well suited to examine differential expression of the Acyl-CoA binding protein (ACBP) during adipogenesis. (PMID:21448843)
• Endogenous potentiation of GABAergic synaptic transmission and responses to GABA uncaging in the thalamic reticular nucleus is absent in mice in which DBI is deleted and mice in which benzodiazepine binding to alpha3 subunit-containing GABAARs is disrupted. (PMID:23727119)
• Acyl-CoA binding protein and epidermal barrier function. [review] (PMID:24080521)
• results indicate that a dysfunction of the neurosteroid system might be operative in BPD in spite of unchanged DBI plasma levels. (PMID:24401326)
• There was a significant difference in the rs2276596 polymorphism C/A allele frequency of the DBI gene (P < 0.0001) between alcoholics and healthy controls. (PMID:24818357)
• High ACBP expression is associated with non-small cell lung cancer. (PMID:24819876)
• Structural and functional properties of ACBD1, commonly known as ACBP. [Review] (PMID:25898985)
• Serum endozepine-4 levels are increased in hepatic coma. (PMID:26290636)
• ACBP increases the activity of ceramide synthase 2 (CerS2) by more than 2-fold and CerS3 activity by 7-fold. ACBP binds very-long-chain acyl-CoA esters, which is required for its ability to stimulate CerS activity. (PMID:28320857)
• was no significant difference in the rs2276596 genotype and allele frequencies of the DBI gene between these psychoses and healthy controls (PMID:30609452)
• By subgrouping individuals with ASD based on clinical phenotypes, and then performing an integrated transcriptome-proteome analysis, we identified DBI as a novel candidate protein for ASD with severe language impairment. (PMID:30921354)
• Acyl-CoA-Binding Protein Is a Lipogenic Factor that Triggers Food Intake and Obesity. (PMID:31422903)
• Serum DBI and biomarkers of neuroinflammation in Alzheimer’s disease and delirium. (PMID:32705487)
• Acyl-CoA binding protein (ACBP) is highly expressed in the developing human kidney. (PMID:35587082)
• Targeting fatty acid oxidation via Acyl-CoA binding protein hinders glioblastoma invasion. (PMID:37120445)
• Acyl coenzyme A binding protein (ACBP): An aging- and disease-relevant “autophagy checkpoint”. (PMID:37357988)
• Acyl-coenzyme a binding protein (ACBP) - a risk factor for cancer diagnosis and an inhibitor of immunosurveillance. (PMID:39242519)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	dbi	ENSDARG00000026369
mus_musculus	Dbi	ENSMUSG00000026385
rattus_norvegicus	Dbi-ps3	ENSRNOG00000019107
rattus_norvegicus	AABR07036498.1	ENSRNOG00000030813
rattus_norvegicus	Dbi	ENSRNOG00000046889
drosophila_melanogaster	Acbp2	FBGN0010387
caenorhabditis_elegans	acbp-1	WBGENE00016655

Paralogs (4): ACBD5 (ENSG00000107897), ACBD7 (ENSG00000176244), ACBD4 (ENSG00000181513), ECI2 (ENSG00000198721)

Protein

Protein identifiers

Acyl-CoA-binding protein — P07108 (reviewed: P07108)

Alternative names: Diazepam-binding inhibitor, Endozepine

All UniProt accessions (3): P07108, A0A024RAF2, B8ZWD1

UniProt curated annotations — full annotation on UniProt →

Function. Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor.

Subunit / interactions. Monomer.

Subcellular location. Endoplasmic reticulum. Golgi apparatus.

Tissue specificity. Isoform 1 is ubiquitous, with a moderate expression level. Isoform 2 is ubiquitous with high level in liver and adipose tissue. Isoform 3 is ubiquitous with strong expression in adipose tissue and heart.

Miscellaneous. Predominantly expressed in adipose tissue and hippocampus.

Similarity. Belongs to the ACBP family.

Isoforms (6)

UniProt ID	Names	Canonical?
P07108-1	1, ACBP-1a, Short	yes
P07108-2	2, ACBP-1b, Long
P07108-3	3, ACBP-1c
P07108-4	4, ACBP-1a1-g
P07108-5	5, ACBP-1g
P07108-6	6, ACBP-1e

RefSeq proteins (12): NP_001073331, NP_001073332, NP_001171488, NP_001171512, NP_001171513, NP_001171514, NP_001269562, NP_001269563, NP_001269564, NP_001269565, NP_001339361, NP_065438 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000582	Acyl-CoA-binding_protein	Domain
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR022408	Acyl-CoA-binding_prot_CS	Conserved_site
IPR035984	Acyl-CoA-binding_sf	Homologous_superfamily

Pfam: PF00887

UniProt features (33 total): modified residue 12, splice variant 5, helix 5, binding site 4, sequence variant 3, initiator methionine 1, chain 1, domain 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2CB8	X-RAY DIFFRACTION	1.4
2FJ9	X-RAY DIFFRACTION	1.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P07108-F1	97.26	0.96

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 (4): 14; 29–33; 55; 74

Post-translational modifications (12): 17, 19, 29, 55, 55, 55, 55, 77, 77, 2, 8, 8

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-77289	Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8978868	Fatty acid metabolism

MSigDB gene sets: 303 (showing top): BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_LIPID_TRANSPORT, GOLDRATH_ANTIGEN_RESPONSE, PUJANA_CHEK2_PCC_NETWORK, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, GROSS_HYPOXIA_VIA_ELK3_UP

GO Biological Process (4): fatty acid metabolic process (GO:0006631), phosphatidylcholine acyl-chain remodeling (GO:0036151), positive regulation of phospholipid transport (GO:2001140), negative regulation of protein lipidation (GO:1903060)

GO Molecular Function (6): fatty-acyl-CoA binding (GO:0000062), benzodiazepine receptor binding (GO:0030156), long-chain fatty acyl-CoA binding (GO:0036042), identical protein binding (GO:0042802), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), Golgi apparatus (GO:0005794), protein-lipid complex (GO:0032994), extracellular exosome (GO:0070062), perinuclear endoplasmic reticulum (GO:0097038)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Fatty acid metabolism	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
endoplasmic reticulum	2
lipid metabolic process	1
monocarboxylic acid metabolic process	1
phosphatidylcholine metabolic process	1
phospholipid transport	1
positive regulation of lipid transport	1
regulation of phospholipid transport	1
protein lipidation	1
negative regulation of macromolecule biosynthetic process	1
negative regulation of protein modification process	1
negative regulation of lipoprotein metabolic process	1
regulation of protein lipidation	1
acyl-CoA binding	1
fatty acid derivative binding	1
signaling receptor binding	1
fatty-acyl-CoA binding	1
protein binding	1
intracellular organelle lumen	1
protein-containing complex	1
extracellular vesicle	1
perinuclear region of cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1478 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DBI	TSPO	P30536	935
DBI	ACBD3	Q9H3P7	886
DBI	CCK	P06307	820
DBI	SCP2	P22307	756
DBI	HNF4A	P41235	612
DBI	PPARA	Q07869	592
DBI	TSPOAP1	O95153	588
DBI	GOT2	P00505	571
DBI	SREBF1	P36956	557
DBI	NMT1	P30419	554
DBI	VDAC1	P21796	543
DBI	FABP1	P07148	532
DBI	STAR	P49675	517
DBI	PRKACA	P17612	492
DBI	PRKACB	P22694	491
DBI	PRKACG	P22612	491

IntAct

13 interactions, top by confidence:

A	B	Type	Score
DBI	CYSLTR2	psi-mi:“MI:0915”(physical association)	0.370
DUSP23	DBI	psi-mi:“MI:0915”(physical association)	0.370
GSK3B	DBI	psi-mi:“MI:0915”(physical association)	0.370
MAP1LC3B	DBI	psi-mi:“MI:0915”(physical association)	0.370
DBI	NIPSNAP1	psi-mi:“MI:0915”(physical association)	0.370
NSFL1C	DBI	psi-mi:“MI:0915”(physical association)	0.370
RAD23A	DBI	psi-mi:“MI:0915”(physical association)	0.370
DBI	RAD23B	psi-mi:“MI:0915”(physical association)	0.370
DBI	UBXN2A	psi-mi:“MI:0915”(physical association)	0.370
ATG16L1		psi-mi:“MI:0914”(association)	0.350
GATA2	EFCAB5	psi-mi:“MI:0914”(association)	0.350
DBI	PPCDC	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (53): DBI (Two-hybrid), DBI (Co-fractionation), DBI (Co-fractionation), DBI (Co-fractionation), HSPE1 (Co-fractionation), LGALS3 (Co-fractionation), SLC25A32 (Co-fractionation), DBI (Affinity Capture-MS), DBI (Affinity Capture-MS), DBI (Affinity Capture-MS), DBI (Affinity Capture-MS), DBI (Affinity Capture-MS), DBI (Affinity Capture-MS), DBI (Proximity Label-MS), MCL1 (Co-fractionation)

ESM2 similar proteins: A1TN70, A1W917, A2SH97, A4G4S2, A6SZQ0, A9BMN1, B1MZ64, B1XXJ4, B2T5J3, B3R2B6, O01805, O04066, O09035, O22643, P07107, P07108, P0C8L7, P11030, P12026, P31786, P31787, P31824, P42281, P45883, P56702, P57752, P61867, P61868, P82934, Q0KA17, Q1H140, Q1LNF7, Q1QMN6, Q20507, Q2G8K9, Q39315, Q39779, Q3SZF0, Q470D8, Q47F91

Diamond homologs: A0FKI7, A2VDR2, A5WV69, O01805, O04066, O09035, O22643, O75521, P07106, P07107, P07108, P11030, P12026, P31786, P31787, P42281, P45882, P45883, P56702, P57752, P61867, P61868, P82934, Q20507, Q2KHT9, Q39315, Q39779, Q3SZF0, Q4V869, Q4V8X4, Q502L1, Q54GC8, Q5FXM5, Q5R7P6, Q5R7V3, Q5RJK8, Q5T8D3, Q5VRM0, Q5XG73, Q5XIC0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRKCD	up-regulates	DBI	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 13 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.

GO biological processes:

GO term	Partners	Fold	FDR
proteasome-mediated ubiquitin-dependent protein catabolic process	5	21.7×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

579 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:119368277:A:C	K33N	0.984
2:119368277:A:T	K33N	0.984
2:119370777:G:C	K55N	0.983
2:119370777:G:T	K55N	0.983
2:119370784:G:C	A58P	0.976
2:119368194:T:C	F6L	0.971
2:119368196:T:A	F6L	0.971
2:119368196:T:G	F6L	0.971
2:119368281:G:C	A35P	0.971
2:119372296:T:C	L81P	0.964
2:119368276:A:T	K33I	0.959
2:119370787:T:A	W59R	0.959
2:119370787:T:C	W59R	0.959
2:119370778:T:A	W56R	0.957
2:119370778:T:C	W56R	0.957
2:119372262:G:C	A70P	0.956
2:119370780:G:C	W56C	0.950
2:119370780:G:T	W56C	0.950
2:119368276:A:C	K33T	0.949
2:119370789:G:C	W59C	0.947
2:119370789:G:T	W59C	0.947
2:119368272:T:G	Y32D	0.940
2:119368282:C:A	A35E	0.940
2:119368206:G:C	A10P	0.937
2:119368275:A:G	K33E	0.937
2:119368267:G:A	G30D	0.933
2:119368280:A:C	Q34H	0.933
2:119368280:A:T	Q34H	0.933
2:119370776:A:C	K55T	0.929
2:119368203:G:C	A9P	0.927

dbSNP variants (sampled 300 via entrez): RS1000068537 (2:119368613 T>C), RS1000201298 (2:119366117 C>A), RS1000445755 (2:119371678 T>C), RS1000662734 (2:119369959 A>G), RS1000733822 (2:119371420 G>C), RS1000900395 (2:119370489 C>A), RS1000952345 (2:119370806 A>C), RS1001062958 (2:119365030 G>A), RS1001166293 (2:119367100 G>A,C), RS1001842779 (2:119372969 A>G), RS1002226891 (2:119369915 A>G), RS1003328117 (2:119369253 T>C), RS1003359313 (2:119369021 T>A), RS1003448370 (2:119367974 T>C,G), RS1003509511 (2:119368223 C>T)

Disease associations

OMIM: gene MIM:125950 | 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
GCST001762_293	Obesity-related traits	9.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0003939	energy intake

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066397 (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
7.03	Kd	92.86	nM	CHEMBL5653589
7.03	ED50	92.86	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 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	2148196: Binding affinity to human DBI incubated for 45 mins by Kinobead based pull down assay	kd	0.0929	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression, increases abundance, increases expression	6
bisphenol A	affects expression, increases expression	2
M-VAC protocol	affects cotreatment, increases response to substance	2
Acetaminophen	decreases expression	2
Air Pollutants	decreases expression, affects expression, increases abundance	2
Arsenic	decreases expression, increases abundance	2
Cisplatin	affects cotreatment, increases expression	2
Tunicamycin	decreases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
benzo(b)fluoranthene	decreases expression	1
deoxynivalenol	decreases expression	1
sodium arsenate	increases abundance, decreases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
1,2,5,6-dibenzanthracene	decreases expression	1
S-tetradecanoyl-coenzyme A	affects binding	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
chloropicrin	increases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
NSC 689534	affects binding, decreases expression	1
bisphenol AF	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651238	Binding	Binding affinity to human DBI 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_B2VQ	Abcam HEK293T DBI KO	Transformed cell line	Female

Clinical trials (associated diseases)

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