ADGRB3

adhesion G protein-coupled receptor B3, the group of Adhesion G protein-coupled receptors, subfamily B

Basic information

Region (hg38): 6:68635281-69390571

Previous symbols: [ "BAI3" ]

Links

ENSG00000135298 ∙ NCBI:577 ∙ OMIM:602684 ∙ HGNC:945 ∙ Uniprot:O60242 ∙ 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 ADGRB3 gene.

• Inborn genetic diseases (43 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRB3 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			43			43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	0	0

Variants in ADGRB3

This is a list of pathogenic ClinVar variants found in the ADGRB3 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-68638774-G-T		not specified	Uncertain significance (Apr 12, 2022)
6-68638907-C-T		not specified	Uncertain significance (Aug 10, 2021)
6-68638966-A-C		not specified	Uncertain significance (Jun 24, 2022)
6-68638973-G-T		not specified	Uncertain significance (Aug 10, 2023)
6-68639020-G-T		not specified	Uncertain significance (Apr 07, 2022)
6-68639046-A-G		not specified	Uncertain significance (Jan 16, 2024)
6-68639070-G-A		not specified	Uncertain significance (Jun 24, 2022)
6-68639115-A-C		not specified	Uncertain significance (Dec 28, 2022)
6-68639192-A-G		not specified	Uncertain significance (Jul 05, 2023)
6-68639240-T-C		not specified	Uncertain significance (Apr 25, 2023)
6-68639271-C-T		not specified	Uncertain significance (Jul 17, 2023)
6-68639277-A-G		not specified	Uncertain significance (Aug 16, 2021)
6-68639307-C-G		not specified	Uncertain significance (Oct 03, 2022)
6-68639328-T-C		not specified	Uncertain significance (Sep 22, 2023)
6-68639385-C-T		not specified	Uncertain significance (Jul 06, 2021)
6-68639394-G-T		not specified	Uncertain significance (Feb 12, 2024)
6-68930616-A-T		not specified	Uncertain significance (Oct 26, 2021)
6-68930622-G-C		not specified	Uncertain significance (Feb 14, 2023)
6-68936530-G-A		not specified	Uncertain significance (Aug 22, 2023)
6-68936632-G-A		not specified	Uncertain significance (May 05, 2023)
6-68943859-T-C		not specified	Uncertain significance (Oct 29, 2021)
6-68943985-C-G		not specified	Uncertain significance (Feb 21, 2024)
6-68956114-C-A		not specified	Uncertain significance (Feb 07, 2023)
6-68956719-A-C		not specified	Uncertain significance (Jun 23, 2023)
6-68956768-C-T		not specified	Uncertain significance (Jul 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRB3	protein_coding	protein_coding	ENST00000370598	30	754145

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	4.13e-10	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.83	673	820	0.821	0.0000419	9995
Missense in Polyphen		276	367.53	0.75096		4398
Synonymous	-1.08	323	299	1.08	0.0000166	2823
Loss of Function	7.98	6	85.8	0.0699	0.00000458	1015

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000157	0.000155
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.00	0.00
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.0000354	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000329	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor that plays a role in the regulation of synaptogenesis and dendritic spine formation at least partly via interaction with ELMO1 and RAC1 activity (By similarity). Promotes myoblast fusion through ELMO/DOCK1 (PubMed:24567399). {ECO:0000250|UniProtKB:Q80ZF8, ECO:0000269|PubMed:24567399}.

Intolerance Scores

• rvis_EVS: -1.74
• rvis_percentile_EVS: 2.39

Haploinsufficiency Scores

• pHI: 0.461
• hipred: Y
• hipred_score: 0.654
• ghis: 0.611

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgrb3
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;myoblast fusion;neuron remodeling;negative regulation of angiogenesis;positive regulation of GTPase activity;regulation of dendrite morphogenesis;positive regulation of synapse assembly;motor learning;maintenance of synapse structure
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane;synaptic cleft;postsynapse
• Molecular function: G protein-coupled receptor activity;GTPase activator activity;protein binding