ADGRE5

protein-coding

adhesion G protein-coupled receptor E5, the group of CD molecules|Adhesion G protein-coupled receptors, subfamily E

Gene summary

This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]

Previous symbols:

CD97

MANE transcript

NM_078481.4

Inheritance

—

ClinVar variants

U:163B:22

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.4

Max pathogenic AF

—

Genomic locus

chr19:14,380,501-14,408,725

External References & Databases

Ensembl (ENSG00000123146)

Transcript & Mutation Effects

hg38 • Region Span ~28.2 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 ADGRE5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 167

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_078481.4. 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			3 clinvar	3 clinvar	2 clinvar	8
missense			158 clinvar	17 clinvar		175
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	163	20	2	185

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 38 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_078481.4	RefSeq	NP_510966.1	20	MANE Select
ENST00000242786.6	Ensembl	ENSP00000242786.4	20	MANE Select
NM_001025160.3	RefSeq	NP_001020331.1	19	Standard
NM_001784.6	RefSeq	NP_001775.2	18	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vitamin D Receptor Pathway
GPCRs, Class B Secretin-like
Signaling by GPCR
Neutrophil degranulation
Signal Transduction

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000242786
Coding exons: 20
Length: 28225
Individuals with no LoFs: 125695
Homozygous LoFs: 0
Heterozygous LoFs: 53
Defined: 125748
p: 0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.805	451	502	0.899	0.0000306	5424
Missense (PolyPhen)		128	168.87	0.75797		1968
Synonymous	-0.466	229	220	1.04	0.0000154	1635
Loss of Function	3.63	17	42.6	0.399	0.00000191	491

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00012	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00025	0.00025	rare
South Asian	0.00036	0.00036	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.137

Intolerance Scores

RVIS EVS: -1.1
RVIS percentile EVS: 6.93

Essentials

Essential (gene trap): N