RADIL

protein-coding

Rap associating with DIL domain, the group of PDZ domain containing

Gene summary

Predicted to enable GTPase binding activity. Acts upstream of or within substrate adhesion-dependent cell spreading. Located in microtubule. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_018059.5

Inheritance

—

ClinVar variants

U:240B:20

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.92

Max pathogenic AF

—

Genomic locus

chr7:4,797,055-4,883,716

External References & Databases

Ensembl (ENSG00000157927)

Transcript & Mutation Effects

hg38 • Region Span ~86.7 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 RADIL variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 348

not providedTotal: 11

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018059.5. 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			1 clinvar	6 clinvar	2 clinvar	9
missense			236 clinvar	12 clinvar		248
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	240	18	2	260

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018059.5	RefSeq	NP_060529.4	14	MANE Select
ENST00000399583.4	Ensembl	ENSP00000382492.3	14	MANE Select
ENST00000445392.5	Ensembl	ENSP00000413403.1	3	Standard
ENST00000457174.1	Ensembl	ENSP00000398057.1	1	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
radil	Danio rerio	Structure: iridophore Quality: decreased pigmentation abnormal

Gene / Model

Organism

Observed Phenotype

radil

Danio rerio

Structure: iridophore

Quality: decreased pigmentation

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

signal transduction
multicellular organism development
substrate adhesion-dependent cell spreading

Molecular Function

protein binding

Cellular Component

microtubule
protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000399583
Coding exons: 14
Length: 86665
Individuals with no LoFs: 124871
Homozygous LoFs: 0
Heterozygous LoFs: 129
Defined: 125000
p: 0.000516

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.966	718	649	1.11	0.0000449	6721
Missense (PolyPhen)		220	218.08	1.0088		2341
Synonymous	-1.78	348	308	1.13	0.0000230	2293
Loss of Function	0.476	36	39.2	0.918	0.00000185	434

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00095	0.00089	rare
Latino/Admixed American	0.00024	0.00020	rare
Ashkenazi Jewish	0.00058	0.00050	rare
East Asian	0.0014	0.0013	notable
Finnish	0.00025	0.00023	rare
European (Non-Finnish)	0.00054	0.00049	rare
South Asian	0.00061	0.00059	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development. {ECO:0000269|PubMed:17704304}.;

Intolerance Scores

LoFtool: 0.681
RVIS EVS: 0.24
RVIS percentile EVS: 68.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.898

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium