ADGRB2

adhesion G protein-coupled receptor B2, the group of Adhesion G protein-coupled receptors, subfamily B|MicroRNA protein coding host genes

Basic information

Region (hg38): 1:31727117-31764893

Previous symbols: [ "BAI2" ]

Links

ENSG00000121753 ∙ NCBI:576 ∙ OMIM:602683 ∙ HGNC:944 ∙ Uniprot:O60241 ∙ 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 ADGRB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRB2 gene is commonly pathogenic or not. These statistics are base on trasncript: . 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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	47	19	68
missense			155	9	7	171
nonsense			1			1
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	160	56	26

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRB2	protein_coding	protein_coding	ENST00000373658	31	37777

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000181	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.49	567	958	0.592	0.0000635	10021
Missense in Polyphen		218	451.94	0.48237		4820
Synonymous	1.23	384	416	0.923	0.0000285	3315
Loss of Function	6.73	11	73.1	0.151	0.00000359	809

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000104	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000652	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000755	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan G-protein coupled receptor involved in cell adhesion and probably in cell-cell interactions. Activates NFAT- signaling pathway, a transcription factor, via the G-protein GNAZ (PubMed:20367554, PubMed:28891236). Involved in angiogenesis inhibition (By similarity). {ECO:0000250|UniProtKB:Q8CGM1, ECO:0000269|PubMed:20367554, ECO:0000269|PubMed:28891236}.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• rvis_EVS: -1.52
• rvis_percentile_EVS: 3.47

Haploinsufficiency Scores

• pHI: 0.463
• hipred: Y
• hipred_score: 0.658
• ghis: 0.539

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgrb2
• Phenotype: 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;peripheral nervous system development;negative regulation of angiogenesis;calcineurin-NFAT signaling cascade;positive regulation of synapse assembly
• Cellular component: centrosome;plasma membrane;integral component of plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;protein binding