Gene Gene information from NCBI Gene database.
Entrez ID 10425
Gene name Ariadne RBR E3 ubiquitin protein ligase 2
Gene symbol ARIH2
Synonyms (NCBI Gene)
ARI2TRIAD1
Chromosome 3
Chromosome location 3p21.31
Summary The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encod
miRNA miRNA information provided by mirtarbase database.
402
miRTarBase ID miRNA Experiments Reference
MIRT005396 hsa-miR-19a-3p qRT-PCR 19296935
MIRT003366 hsa-miR-221-3p Reporter assay;Microarray 20018759
MIRT028030 hsa-miR-93-5p Sequencing 20371350
MIRT043669 hsa-miR-342-3p CLASH 23622248
MIRT035998 hsa-miR-1301-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0000209 Process Protein polyubiquitination IDA 16118314, 19340006
GO:0004842 Function Ubiquitin-protein transferase activity IDA 16118314, 24076655
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 16118314, 16169070, 16189514, 19340006, 19549727, 22819825, 24076655, 25416956, 28514442, 30587576, 31515488, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605615 690 ENSG00000177479
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95376
Protein name E3 ubiquitin-protein ligase ARIH2 (ARI-2) (Protein ariadne-2 homolog) (EC 2.3.2.31) (Triad1 protein)
Protein 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, PubMed:33268465, PubMed:34518685, PubMed:384
PDB 7OD1 , 7ONI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01485 IBR 208 270 IBR domain, a half RING-finger domain Domain
PF01485 IBR 279 340 IBR domain, a half RING-finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with higher expression in granulocytes. {ECO:0000269|PubMed:16118314}.
Sequence
MSVDMNSQGSDSNEEDYDPNCEEEEEEEEDDPGDIEDYYVGVASDVEQQGADAFDPEEYQ
FTCLTYKESEGALNEHMTSLASVLKVSHSVAKLILVNFHWQVSEILDRYKSNSAQLLVEA
RVQPNPSKHVPTSHPPHHCAVCMQFVRKENLLSLACQHQFCRSCWEQHCSVLVKDGVGVG
VSCMAQDCPLRTPEDFVFPLLPNEELREKYRRYLFRDYVESHYQLQLCPGADCPMVIRVQ
EPRARRVQCNRCNEVFCFKCRQMYHAPTDC
ATIRKWLTKCADDSETANYISAHTKDCPKC
NICIEKNGGCNHMQCSKCKHDFCWMCLGDWKTHGSEYYEC
SRYKENPDIVNQSQQAQARE
ALKKYLFYFERWENHNKSLQLEAQTYQRIHEKIQERVMNNLGTWIDWQYLQNAAKLLAKC
RYTLQYTYPYAYYMESGPRKKLFEYQQAQLEAEIENLSWKVERADSYDRGDLENQMHIAE
QRRRTLLKDFHDT
Sequence length 493
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Likely pathogenic rs2471500241 RCV003494429
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration BEFREE 30681643
★☆☆☆☆
Found in Text Mining only
Exudative age-related macular degeneration Exudative Macular Degeneration BEFREE 29190241
★☆☆☆☆
Found in Text Mining only
Glycogen storage disease type II Glycogen Storage Disease BEFREE 30681643
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory bowel disease Pubtator 25671699 Stimulate
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory bowel disease Pubtator 25671699 Associate
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 29459712
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia BEFREE 29459712
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 35732617 Associate
★☆☆☆☆
Found in Text Mining only