ARRDC2

arrestin domain containing 2, the group of Alpha arrestins

Basic information

Region (hg38): 19:18001132-18014102

Links

ENSG00000105643NCBI:27106HGNC:25225Uniprot:Q8TBH0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARRDC2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARRDC2 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
0
missense
26
clinvar
26
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 26 0 0

Variants in ARRDC2

This is a list of pathogenic ClinVar variants found in the ARRDC2 region.

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

Position Type Phenotype Significance ClinVar
19-18001319-G-A not specified Uncertain significance (Oct 12, 2021)2254127
19-18001342-G-C not specified Uncertain significance (Nov 15, 2021)2206101
19-18008374-C-T not specified Uncertain significance (Feb 14, 2023)2465661
19-18008408-G-A not specified Uncertain significance (Mar 06, 2023)2494242
19-18008504-C-G not specified Uncertain significance (Oct 04, 2022)2215476
19-18009011-C-A not specified Uncertain significance (Feb 27, 2023)2489487
19-18009069-A-G not specified Uncertain significance (Jan 23, 2023)2477495
19-18009626-G-A not specified Uncertain significance (Jun 05, 2023)2556918
19-18009662-C-T not specified Uncertain significance (Feb 15, 2023)2456268
19-18009673-G-A not specified Uncertain significance (Dec 19, 2022)2409066
19-18009676-C-G not specified Uncertain significance (Feb 07, 2023)2470040
19-18009676-C-T not specified Uncertain significance (Jan 05, 2022)2211148
19-18009807-A-G not specified Uncertain significance (Feb 10, 2023)2462023
19-18009885-C-T not specified Uncertain significance (Jan 24, 2023)2471369
19-18009891-A-G not specified Uncertain significance (Jun 10, 2024)3316296
19-18009893-C-G not specified Uncertain significance (Jun 17, 2024)3316276
19-18009932-G-C not specified Uncertain significance (Nov 27, 2023)3129857
19-18009965-C-T not specified Uncertain significance (Feb 07, 2023)2471031
19-18009968-G-A not specified Uncertain significance (Dec 21, 2022)2338888
19-18009974-C-T not specified Uncertain significance (Mar 01, 2023)2491902
19-18009975-G-A Uncertain significance (Sep 21, 2023)2920783
19-18009986-G-A not specified Uncertain significance (Apr 05, 2023)2533139
19-18010343-C-A not specified Uncertain significance (May 11, 2022)2386679
19-18010649-G-A not specified Uncertain significance (Jan 02, 2024)3129854
19-18010652-C-G not specified Uncertain significance (Jan 26, 2022)2273180

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ARRDC2protein_codingprotein_codingENST00000222250 812971
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.20e-90.2581256670801257470.000318
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7782532900.8720.00002052549
Missense in Polyphen110116.40.9451080
Synonymous-0.5731451361.060.0000104913
Loss of Function0.6571518.00.8330.00000112169

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002640.000264
Ashkenazi Jewish0.001190.00119
East Asian0.0002740.000272
Finnish0.0003240.000323
European (Non-Finnish)0.0003500.000334
Middle Eastern0.0002740.000272
South Asian0.0002960.000294
Other0.0001650.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.835
rvis_EVS
0.45
rvis_percentile_EVS
77.98

Haploinsufficiency Scores

pHI
0.356
hipred
N
hipred_score
0.439
ghis
0.403

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.646

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Arrdc2
Phenotype

Gene ontology

Biological process
Cellular component
plasma membrane;cytoplasmic vesicle
Molecular function