ADGRG5

protein-coding

adhesion G protein-coupled receptor G5, the group of Adhesion G protein-coupled receptors, subfamily G

Gene summary

This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Previous symbols:

GPR114

MANE transcript

NM_001304376.3

Inheritance

—

ClinVar variants

U:93B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.26

Max pathogenic AF

—

Genomic locus

chr16:57,542,643-57,591,681

External References & Databases

Ensembl (ENSG00000159618)

Transcript & Mutation Effects

hg38 • Region Span ~49.0 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 ADGRG5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 89

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001304376.3. 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						0
missense			91 clinvar	8 clinvar	2 clinvar	101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	93	8	2	103

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001304376.3	RefSeq	NP_001291305.1	11	MANE Select
ENST00000349457.8	Ensembl	ENSP00000290823.4	11	MANE Select
NM_001318481.2	RefSeq	NP_001305410.1	9	Standard
NM_153837.4	RefSeq	NP_722579.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

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

integral component of plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340339
Coding exons: 11
Length: 49261
Individuals with no LoFs: 125730
Homozygous LoFs: 0
Heterozygous LoFs: 17
Defined: 125747
p: 0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.394	293	313	0.937	0.0000193	3394
Missense (PolyPhen)		84	104.02	0.80751		1271
Synonymous	0.150	137	139	0.984	0.00000899	1111
Loss of Function	3.29	6	23.0	0.261	9.84e-7	254

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000054	0.000053	rare
South Asian	0.00010	0.000098	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Adhesion G protein-coupled receptor (GPCR). Transduces intracellular signals through coupling to guanine nucleotide- binding protein G(s) subunit alpha and activation of adenylate cyclase pathway. Isoform 1, but not isoform 2, is constitutively active, as evidenced by elevated basal cAMP levels, and responds to mechanical activation (shaking). {ECO:0000250|UniProtKB:Q3V3Z3, ECO:0000305|PubMed:25713288}.;

Intolerance Scores

RVIS EVS: 0.18
RVIS percentile EVS: 66.24

Essentials

Essential (gene trap): N