ARRDC3

arrestin domain containing 3, the group of Alpha arrestins

Basic information

Region (hg38): 5:91368631-91383317

Links

ENSG00000113369

∙ NCBI:57561 ∙ OMIM:612464 ∙ HGNC:29263 ∙ Uniprot:Q96B67 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARRDC3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARRDC3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1 clinvar	1 clinvar	2
missense			12 clinvar			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	1

Variants in ARRDC3

This is a list of pathogenic ClinVar variants found in the ARRDC3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
5-91371404-C-T	not specified	Uncertain significance (Sep 30, 2022)	2387656
5-91371405-G-A	not specified	Uncertain significance (May 15, 2024)	3316328
5-91371444-G-C	not specified	Uncertain significance (Jan 18, 2023)	2476253
5-91371456-T-C	not specified	Uncertain significance (May 05, 2022)	2401628
5-91373725-T-C	not specified	Uncertain significance (Apr 26, 2024)	3316317
5-91373835-G-A	not specified	Uncertain significance (Feb 26, 2024)	3129858
5-91374125-T-C		Uncertain significance (-)	92008
5-91374955-G-A		Likely benign (Jun 20, 2018)	746406
5-91375055-A-G	not specified	Uncertain significance (Jun 21, 2021)	2233973
5-91375113-C-T	not specified	Uncertain significance (Sep 13, 2022)	2304897
5-91375516-G-T	not specified	Uncertain significance (Oct 02, 2023)	3129859
5-91375564-G-A	not specified	Uncertain significance (Aug 05, 2023)	2616658
5-91376678-T-C		Benign (Aug 16, 2018)	768019
5-91376698-G-A	not specified	Uncertain significance (May 26, 2023)	2552260
5-91376727-C-T	not specified	Uncertain significance (Apr 07, 2022)	2342446
5-91378731-T-C	not specified	Uncertain significance (Apr 09, 2024)	3316306
5-91378745-G-A	not specified	Uncertain significance (Nov 01, 2022)	2387612
5-91383023-A-G	not specified	Uncertain significance (Jul 20, 2021)	2238966

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARRDC3	protein_coding	protein_coding	ENST00000265138	8	14636

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.987	0.0129	125740	0	5	125745	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.87	150	230	0.653	0.0000116	2705
Missense in Polyphen		38	78.11	0.48649		945
Synonymous	0.278	80	83.2	0.961	0.00000425	797
Loss of Function	3.95	2	22.0	0.0910	0.00000125	260

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000443	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Adapter protein that plays a role in regulating cell- surface expression of adrenergic receptors and probably also other G protein-coupled receptors (PubMed:20559325, PubMed:21982743, PubMed:23208550). Plays a role in NEDD4-mediated ubiquitination and endocytosis af activated ADRB2 and subsequent ADRB2 degradation (PubMed:20559325, PubMed:23208550). May recruit NEDD4 to ADRB2 (PubMed:20559325). Alternatively, may function as adapter protein that does not play a major role in recruiting NEDD4 to ADRB2, but rather plays a role in a targeting ADRB2 to endosomes (PubMed:23208550). {ECO:0000269|PubMed:20559325, ECO:0000269|PubMed:23208550}.;

Recessive Scores

pRec: 0.139

Intolerance Scores

loftool: 0.0913
rvis_EVS: -0.1
rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

pHI: 0.796
hipred: Y
hipred_score: 0.728
ghis: 0.521

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.944

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Arrdc3
Phenotype: homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process: temperature homeostasis;negative regulation of heat generation;skin development;positive regulation of ubiquitin-protein transferase activity;fat pad development;negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway;negative regulation of locomotion involved in locomotory behavior;negative regulation of cold-induced thermogenesis
Cellular component: lysosome;endosome;early endosome;plasma membrane
Molecular function: protein binding;beta-3 adrenergic receptor binding