ARRDC4

arrestin domain containing 4, the group of Alpha arrestins

Basic information

Region (hg38): 15:97960703-97973833

Links

ENSG00000140450 ∙ NCBI:91947 ∙ OMIM:619788 ∙ HGNC:28087 ∙ Uniprot:Q8NCT1 ∙ 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 ARRDC4 gene.

• not_specified (57 variants)
• not_provided (2 variants)
• ARRDC4-related_condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARRDC4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000183376.3. 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			58		1	59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	0	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARRDC4	protein_coding	protein_coding	ENST00000268042	8	54285

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.71e-7	0.658	125687	0	60	125747	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.617	177	202	0.878	0.0000104	2625
Missense in Polyphen		60	87.835	0.6831		1011
Synonymous	-0.593	84	77.4	1.09	0.00000423	839
Loss of Function	1.15	13	18.3	0.709	0.00000102	230

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00196	0.00196
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.000218	0.000217
South Asian	0.0000668	0.0000653
Other	0.000652	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (By similarity). Plays a role in endocytosis of activated G protein-coupled receptors (GPCRs) (Probable). Through an ubiquitination-dependent mechanism plays also a role in the incorporation of SLC11A2 into extracellular vesicles (By similarity). May play a role in glucose uptake (PubMed:19605364). {ECO:0000250|UniProtKB:A0A0B4J1F4, ECO:0000269|PubMed:19605364, ECO:0000305}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.717
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.59

Haploinsufficiency Scores

• pHI: 0.612
• hipred: N
• hipred_score: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.977

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arrdc4
• Phenotype: cellular phenotype

Gene ontology

• Biological process: protein transport;protein ubiquitination;positive regulation of ubiquitin-protein transferase activity;extracellular vesicle biogenesis
• Cellular component: endosome;early endosome;plasma membrane;extracellular vesicle
• Molecular function: protein binding;protein binding, bridging involved in substrate recognition for ubiquitination