ARRDC2

arrestin domain containing 2, the group of Alpha arrestins

Basic information

Region (hg38): 19:18001132-18014102

Links

ENSG00000105643 ∙ NCBI:27106 ∙ ∙ HGNC:25225 ∙ Uniprot:Q8TBH0 ∙ 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 ARRDC2 gene.

• not_specified (60 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_000015683.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			60	1		61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARRDC2	protein_coding	protein_coding	ENST00000222250	8	12971

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.20e-9	0.258	125667	0	80	125747	0.000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.778	253	290	0.872	0.0000205	2549
Missense in Polyphen		110	116.4	0.945		1080
Synonymous	-0.573	145	136	1.06	0.0000104	913
Loss of Function	0.657	15	18.0	0.833	0.00000112	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000264	0.000264
Ashkenazi Jewish	0.00119	0.00119
East Asian	0.000274	0.000272
Finnish	0.000324	0.000323
European (Non-Finnish)	0.000350	0.000334
Middle Eastern	0.000274	0.000272
South Asian	0.000296	0.000294
Other	0.000165	0.000163

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

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

Mouse Genome Informatics

• Gene name: Arrdc2

Gene ontology

• Cellular component: plasma membrane;cytoplasmic vesicle