ADGRE1

protein-coding

adhesion G protein-coupled receptor E1, the group of Adhesion G protein-coupled receptors, subfamily E

Gene summary

This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Previous symbols:

TM7LN3
EMR1

MANE transcript

NM_001974.5

Inheritance

—

ClinVar variants

U:131B:16

Top phenotype

ADGRE1-related disorder

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr19:6,887,566-6,940,459

External References & Databases

Ensembl (ENSG00000174837)

Transcript & Mutation Effects

hg38 • Region Span ~52.9 kb

Loading mutation effect viewer...

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 ADGRE1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 128

not providedTotal: 10

ADGRE1-related disorderTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001974.5. 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			2 clinvar	2 clinvar	2 clinvar	6
missense			125 clinvar	8 clinvar	4 clinvar	137
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	131	10	6	147

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_001974.5	RefSeq	NP_001965.3	21	MANE Select
ENST00000312053.9	Ensembl	ENSP00000311545.3	21	MANE Select
NM_001256252.2	RefSeq	NP_001243181.1	20	Standard
NM_001256253.2	RefSeq	NP_001243182.1	20	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Class B Secretin-like
Signaling by GPCR
Signal Transduction
Class B/2 (Secretin family receptors)
GPCR ligand binding

Biological Process

adaptive immune response
cell adhesion
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
calcium ion binding

Cellular Component

integral component of plasma membrane
external side of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000312053
Coding exons: 21
Length: 52894
Individuals with no LoFs: 125541
Homozygous LoFs: 0
Heterozygous LoFs: 206
Defined: 125747
p: 0.000819

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.515	452	484	0.934	0.0000249	5862
Missense (PolyPhen)		134	150.98	0.88755		1987
Synonymous	0.232	185	189	0.979	0.0000108	1660
Loss of Function	0.906	39	45.6	0.855	0.00000223	542

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.0011	notable
Latino/Admixed American	0.0011	0.0010	notable
Ashkenazi Jewish	0.0018	0.0016	notable
East Asian	0.00049	0.00049	rare
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00036	0.00035	rare
South Asian	0.0026	0.0026	notable
Other	0.0011	0.00098	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan receptor involved in cell adhesion and probably in cell-cell interactions specifically involving cells of the immune system. May play a role in regulatory T-cells (Treg) development. {ECO:0000250|UniProtKB:Q61549}.;

Recessive Scores

pRec: 0.0904

Intolerance Scores

RVIS EVS: 2.74
RVIS percentile EVS: 98.97

Essentials

Essential (gene trap): N