ADGRL4

protein-coding

adhesion G protein-coupled receptor L4, the group of Adhesion G protein-coupled receptors, subfamily L

Gene summary

Predicted to enable G protein-coupled receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in cytoplasmic vesicle. Predicted to be active in plasma membrane. Biomarker of glioblastoma and hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

ELTD1

MANE transcript

NM_022159.4

Inheritance

—

ClinVar variants

U:104B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr1:78,889,764-79,282,124

External References & Databases

Ensembl (ENSG00000162618)

Transcript & Mutation Effects

hg38 • Region Span ~392.4 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 ADGRL4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 99

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022159.4. 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			2 clinvar	2 clinvar	1 clinvar	5
missense			98 clinvar	2 clinvar		100
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	104	4	1	109

Loading ClinVar variants...

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_022159.4	RefSeq	NP_071442.2	15	MANE Select
ENST00000370742.4	Ensembl	ENSP00000359778.3	15	MANE Select
ENST00000401034.7	Ensembl	ENSP00000383813.3	6	Standard
ENST00000640664.2	Ensembl	ENSP00000491199.2	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Class B Secretin-like

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
calcium ion binding
protein dimerization activity

Cellular Component

plasma membrane
integral component of plasma membrane
integral component of membrane
cytoplasmic vesicle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370742
Coding exons: 15
Length: 116955
Individuals with no LoFs: 124710
Homozygous LoFs: 1
Heterozygous LoFs: 82
Defined: 124793
p: 0.000333

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0329	343	345	0.995	0.0000163	4527
Missense (PolyPhen)		133	146.8	0.90602		1995
Synonymous	-1.09	138	123	1.12	0.00000612	1269
Loss of Function	1.54	21	30.1	0.697	0.00000133	443

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00019	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00030	0.00028	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00033	0.00033	rare
South Asian	0.0010	0.00098	notable
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Endothelial orphan receptor that acts as a key regulator of angiogenesis. {ECO:0000269|PubMed:23871637}.;

Recessive Scores

pRec: 0.237

Intolerance Scores

RVIS EVS: 1
RVIS percentile EVS: 90.69

Essentials

Essential (gene trap): N