ADGRA2

protein-coding

adhesion G protein-coupled receptor A2, the group of Immunoglobulin like domain containing|Adhesion G protein-coupled receptors, subfamily A

Gene summary

Predicted to enable G protein-coupled receptor activity. Involved in canonical Wnt signaling pathway. Located in plasma membrane. Part of Wnt signalosome. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

GPR124

MANE transcript

NM_032777.10

Inheritance

—

ClinVar variants

U:217B:13

Top phenotype

Ependymoma

gnomAD constraint

pLI —, LoF o/e 0.42

Max pathogenic AF

—

Genomic locus

chr8:37,784,191-37,844,896

External References & Databases

Ensembl (ENSG00000020181)

Transcript & Mutation Effects

hg38 • Region Span ~60.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ADGRA2 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 212

not providedTotal: 8

EpendymomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032777.10. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	3 clinvar	1 clinvar	8
missense			209 clinvar	6 clinvar	3 clinvar	218
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	217	9	4	230

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032777.10	RefSeq	NP_116166.9	19	MANE Select
ENST00000412232.3	Ensembl	ENSP00000406367.2	19	MANE Select
ENST00000315215.11	Ensembl	ENSP00000323508.7	16	Standard
ENST00000315215.12	Ensembl	ENSP00000323508.7	16	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
adgra2	Danio rerio	Structure: melanocyte Quality: decreased amount abnormal

Gene / Model

Organism

Observed Phenotype

adgra2

Danio rerio

Structure: melanocyte

Quality: decreased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Integrins in angiogenesis

Biological Process

sprouting angiogenesis
G protein-coupled receptor signaling pathway
central nervous system development
positive regulation of endothelial cell migration
Wnt signaling pathway

Molecular Function

G protein-coupled receptor activity
protein binding

Cellular Component

plasma membrane
cell surface
integral component of membrane
filopodium
Wnt signalosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000412232
Coding exons: 19
Length: 60706
Individuals with no LoFs: 125692
Homozygous LoFs: 0
Heterozygous LoFs: 55
Defined: 125747
p: 0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.93	612	762	0.803	0.0000485	8376
Missense (PolyPhen)		193	263.78	0.73167		2973
Synonymous	0.0868	340	342	0.994	0.0000234	2909
Loss of Function	3.75	21	49.5	0.425	0.00000258	535

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00018	rare
Latino/Admixed American	0.00036	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0.00034	0.00032	rare
European (Non-Finnish)	0.00025	0.00024	rare
South Asian	0.000065	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Endothelial receptor which functions as a WNT7-specific coactivator of canonical Wnt signaling (By similarity). Required for normal endothelial cell sprouting and migration in the forebrain and neural tube (By similarity). Has a major role in establishing the blood-brain barrier (By similarity). Binds to the glycosaminoglycans heparin, heparin sulfate, chondroitin sulfate and dermatan sulfate (PubMed:16982628). {ECO:0000250|UniProtKB:Q91ZV8, ECO:0000269|PubMed:22013897}.;

Recessive Scores

pRec: 0.124

Intolerance Scores

RVIS EVS: -0.14
RVIS percentile EVS: 42.35

Essentials

Essential (gene trap): N