ARIH2

ariadne RBR E3 ubiquitin protein ligase 2, the group of RBR E3 ubiquitin ligases

Basic information

Region (hg38): 3:48918821-48986382

Links

ENSG00000177479 ∙ NCBI:10425 ∙ OMIM:605615 ∙ HGNC:690 ∙ Uniprot:O95376 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 218.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_006321.4	NP_006312.1	14	yes	-
ENST00000356401.9	ENSP00000348769.4	14	yes	-
NM_001317333.2	NP_001304262.1	14	-	-
NM_001317334.2	NP_001304263.1	11	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARIH2 gene.

• not_specified (41 variants)
• Myoepithelial_tumor (1 variants)
• Autism_spectrum_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARIH2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_006321.4. 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			2			2
missense			43	1		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8			8
Total	0	0	53	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARIH2	protein_coding	protein_coding	ENST00000356401	14	67562

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.58	118	289	0.408	0.0000161	3298
Missense in Polyphen		21	100.13	0.20973		1222
Synonymous	0.385	100	105	0.952	0.00000616	833
Loss of Function	4.89	5	37.1	0.135	0.00000200	402

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin- conjugating enzyme E2 UBE2L3 (PubMed:16118314, PubMed:17646546, PubMed:19340006, PubMed:24076655). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-5-RING ubiquitin ligase complex (ECS complex, also named CRL5 complex) and initiating ubiquitination of ECS substrates: associates with ECS complex and specifically mediates addition of the first ubiquitin on ECS targets (By similarity). The initial ubiquitin is then elongated (By similarity). E3 ubiquitin-protein ligase activity is activated upon binding to neddylated form of the ECS complex (PubMed:24076655). Mediates 'Lys-6', 'Lys-48'-and 'Lys- 63'-linked polyubiquitination (PubMed:16118314, PubMed:17646546, PubMed:19340006). May play a role in myelopoiesis (PubMed:19340006). {ECO:0000250|UniProtKB:Q9Y4X5, ECO:0000269|PubMed:16118314, ECO:0000269|PubMed:17646546, ECO:0000269|PubMed:19340006, ECO:0000269|PubMed:24076655}.
• Pathway: Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

• pRec: 0.0818

Intolerance Scores

• loftool: 0.187
• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.959

Gene Damage Prediction

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

Gene ontology

• Biological process: protein polyubiquitination;ubiquitin-dependent protein catabolic process;multicellular organism development;protein ubiquitination;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;developmental cell growth;protein K63-linked ubiquitination;protein K48-linked ubiquitination;hematopoietic stem cell proliferation;positive regulation of protein targeting to mitochondrion
• Cellular component: ubiquitin ligase complex;nucleus;nucleoplasm;cytoplasm;Cul5-RING ubiquitin ligase complex
• Molecular function: ubiquitin-protein transferase activity;protein binding;zinc ion binding;ubiquitin conjugating enzyme binding;ubiquitin protein ligase activity