DBI

diazepam binding inhibitor, acyl-CoA binding protein

Basic information

Region (hg38): 2:119366924-119372550

Links

ENSG00000155368

∙ NCBI:1622 ∙ OMIM:125950 ∙ HGNC:2690 ∙ Uniprot:P07108 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DBI gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DBI gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			4 clinvar		1 clinvar	5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	1

Variants in DBI

This is a list of pathogenic ClinVar variants found in the DBI region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
2-119368248-G-C	not specified	Uncertain significance (Dec 22, 2023)	3080172
2-119368282-C-T	not specified	Uncertain significance (Jan 19, 2024)	3080171
2-119370742-C-T	not specified	Uncertain significance (Jul 27, 2021)	2400033
2-119370764-C-T	not specified	Uncertain significance (Oct 26, 2021)	2367625
2-119372310-G-A		Benign (Jul 30, 2018)	732619

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DBI	protein_coding	protein_coding	ENST00000542275	4	5630

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00139	0.680	125738	0	9	125747	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0647	72	73.6	0.979	0.00000360	930
Missense in Polyphen		23	20.037	1.1479		258
Synonymous	-0.117	31	30.2	1.03	0.00000168	274
Loss of Function	0.715	5	7.05	0.709	2.96e-7	95

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000619	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000655	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: 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.;
Pathway: Benzodiazepine Pathway, Pharmacodynamics;PPAR signaling pathway - Homo sapiens (human);Sterol Regulatory Element-Binding Proteins (SREBP) signalling;PPAR Alpha Pathway;Nuclear Receptors Meta-Pathway;PPAR signaling pathway;Metabolism of lipids;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Mitochondrial Fatty Acid Beta-Oxidation;Saturated fatty acids beta-oxidation;Metabolism;Fatty acid metabolism;GPCR signaling-G alpha s Epac and ERK;Mono-unsaturated fatty acid beta-oxidation;Omega-6 fatty acid metabolism;GPCR signaling-G alpha s PKA and ERK;Valine, leucine and isoleucine degradation;Butanoate metabolism;Propanoate metabolism;Bile acid biosynthesis;De novo fatty acid biosynthesis;Di-unsaturated fatty acid beta-oxidation;Porphyrin metabolism;GPCR signaling-G alpha i (Consensus)

Recessive Scores

pRec: 0.0792

Haploinsufficiency Scores

pHI: 0.0106
hipred: N
hipred_score: 0.144
ghis: 0.439

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0510

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Dbi
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype;

Gene ontology

Biological process: acyl-CoA metabolic process;protein palmitoylation;phosphatidylcholine acyl-chain remodeling
Cellular component: endoplasmic reticulum lumen;Golgi apparatus;extracellular exosome
Molecular function: lipid binding;benzodiazepine receptor binding;long-chain fatty acyl-CoA binding;protein dimerization activity