ADGRD2

adhesion G protein-coupled receptor D2, the group of Adhesion G protein-coupled receptors, subfamily D

Basic information

Region (hg38): 9:124450451-124478589

Previous symbols: [ "GPR144" ]

Links

ENSG00000180264 ∙ NCBI:347088 ∙ ∙ HGNC:18651 ∙ Uniprot:Q7Z7M1 ∙ 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 ADGRD2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRD2 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				1		1
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	0	1	0

Variants in ADGRD2

This is a list of pathogenic ClinVar variants found in the ADGRD2 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-124453057-G-A			Likely benign (Sep 01, 2022)
9-124469550-G-A			Likely benign (Jul 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRD2	protein_coding	protein_coding	ENST00000334810	20	25957

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.75e-15	0.765	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.976	445	507	0.878	0.0000304	5956
Missense in Polyphen		121	151.49	0.79874		1929
Synonymous	1.27	203	227	0.893	0.0000147	2120
Loss of Function	1.92	30	43.7	0.687	0.00000232	458

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Recessive Scores

• pRec: 0.0888

Intolerance Scores

• rvis_EVS: 5.54
• rvis_percentile_EVS: 99.85

Haploinsufficiency Scores

• pHI: 0.138
• hipred: N
• hipred_score: 0.180

Essentials

• essential_gene_gene_trap: N

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway
• Cellular component: integral component of plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity