ADGRB3

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

Basic information

Region (hg38): 6:68635282-69390571

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.

• not_specified (134 variants)
• Short_stature (2 variants)
• not_provided (1 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. These statistics are base on transcript: NM_000001704.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense		2	133	1		136
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	2	134	1	0

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