ADGRD1

protein-coding

adhesion G protein-coupled receptor D1, the group of Adhesion G protein-coupled receptors, subfamily D

Gene summary

The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]

Previous symbols:

GPR133

MANE transcript

NM_198827.5

Inheritance

—

ClinVar variants

U:101B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr12:130,953,907-131,141,469

External References & Databases

Ensembl (ENSG00000111452)

Transcript & Mutation Effects

hg38 • Region Span ~187.6 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 ADGRD1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 95

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198827.5. 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			6 clinvar	4 clinvar		10
missense			89 clinvar	7 clinvar		96
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	101	11	0	112

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 56 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198827.5	RefSeq	NP_942122.2	25	MANE Select
ENST00000261654.10	Ensembl	ENSP00000261654.5	25	MANE Select
NM_001330497.2	RefSeq	NP_001317426.1	26	Standard
ENST00000335486.10	Ensembl	ENSP00000334127.7	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Other

Biological Process

cell surface receptor signaling pathway
G protein-coupled receptor signaling pathway
adenylate cyclase-activating G protein-coupled receptor signaling pathway

Molecular Function

G protein-coupled receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261654
Coding exons: 25
Length: 187563
Individuals with no LoFs: 125673
Homozygous LoFs: 0
Heterozygous LoFs: 75
Defined: 125748
p: 0.000298

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.326	512	533	0.960	0.0000325	5667
Missense (PolyPhen)		128	160.22	0.79888		1847
Synonymous	-0.658	252	239	1.05	0.0000171	1739
Loss of Function	2.63	30	50.1	0.599	0.00000233	560

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00071	0.00071	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00037	0.00037	rare
South Asian	0.00020	0.00020	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan receptor. Signals via G(s)-alpha family of G- proteins (PubMed:22025619, PubMed:22575658). Has protumorigenic function especially in glioblastoma (PubMed:27775701). {ECO:0000269|PubMed:22025619, ECO:0000269|PubMed:22575658, ECO:0000269|PubMed:27775701}.;

Recessive Scores

pRec: 0.0998

Intolerance Scores

RVIS EVS: -0.23
RVIS percentile EVS: 36.34

Essentials

Essential (gene trap): N