ARRDC5

protein-coding

arrestin domain containing 5, the group of Alpha arrestins

Gene summary

Predicted to enable molecular adaptor activity. Predicted to be involved in spermatogenesis. Predicted to be located in membrane. Predicted to be active in endosome and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001080523.3

Inheritance

—

ClinVar variants

U:55B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr19:4,890,437-4,902,948

External References & Databases

Ensembl (ENSG00000205784)

Transcript & Mutation Effects

hg38 • Region Span ~12.5 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 ARRDC5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 57

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080523.3. 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				1 clinvar		1
missense			55 clinvar	2 clinvar		57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	3	0	58

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080523.3	RefSeq	NP_001073992.2	3	MANE Select
ENST00000650722.2	Ensembl	ENSP00000498235.1	3	MANE Select
NM_001367189.2	RefSeq	NP_001354118.1	4	Standard
ENST00000381781.2	Ensembl	ENSP00000371200.2	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381781
Coding exons: 3
Length: 12431
Individuals with no LoFs: 124626
Homozygous LoFs: 0
Heterozygous LoFs: 12
Defined: 124638
p: 0.0000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.506	225	205	1.10	0.0000124	2255
Missense (PolyPhen)		49	47.185	1.0385		540
Synonymous	0.181	88	90.2	0.976	0.00000635	678
Loss of Function	0.812	4	6.18	0.647	2.62e-7	79

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000080	0.000071	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.674
RVIS EVS: -0.36
RVIS percentile EVS: 29.31

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0815

Gene Damage Prediction

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