Gene Gene information from NCBI Gene database.
Entrez ID 22864
Gene name R3H domain containing 2
Gene symbol R3HDM2
Synonyms (NCBI Gene)
CAG6PR01365
Chromosome 12
Chromosome location 12q13.3
miRNA miRNA information provided by mirtarbase database.
426
miRTarBase ID miRNA Experiments Reference
MIRT051728 hsa-let-7c-5p CLASH 23622248
MIRT045897 hsa-miR-125b-5p CLASH 23622248
MIRT039289 hsa-miR-671-5p CLASH 23622248
MIRT637394 hsa-miR-4753-5p HITS-CLIP 23824327
MIRT637393 hsa-miR-514a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619886 29167 ENSG00000179912
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2K5
Protein name R3H domain-containing protein 2
PDB 1WHR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01424 R3H 170 228 R3H domain Domain
Sequence
MSNSNTTQETLEIMKESEKKLVEESVNKNKFISKTPSKEEIEKECEDTSLRQETQRRTSN
HGHARKRAKSNSKLKLVRSLAVCEESSTPFADGPLETQDIIQLHISCPSDKEEEKSTKDV
SEKEDKDKNKEKIPRKMLSRDSSQEYTDSTGIDLHEFLVNTLKKNPRDRMMLLKLEQEIL
EFINDNNNQFKKFPQMTSYHRMLLHRVAAYFGMDHNVDQTGKAVIINK
TSNTRIPEQRFS
EHIKDEKNTEFQQRFILKRDDASMDRDDNQTGQNGYLNDIRLSKEAFSSSSHKRRQIFRG
NREGLSRTSSSRQSSTDSELKSLEPRPWSSTDSDGSVRSMRPPVTKASSFSGISILTRGD
SIGSSKGGSAGRISRPGMALGAPEVCNQVTSSQSVRGLLPCTAQQQQQQQQQQLPALPPT
PQQQPPLNNHMISQADDLSNPFGQMSLSRQGSTEAADPSAALFQTPLISQHPQQTSFIMA
STGQPLPTSNYSTSSHAPPTQQVLPPQGYMQPPQQIQVSYYPPGQYPNSNQQYRPLSHPV
AYSPQRGQQLPQPSQQPGLQPMMPNQQQAAYQGMIGVQQPQNQGLLSSQRSSMGGQMQGL
VVQYTPLPSYQVPVGSDSQNVVQPPFQQPMLVPVSQSVQGGLPAAGVPVYYSMIPPAQQN
GTSPSVGFLQPPGSEQYQMPQSPSPCSPPQMPQQYSGVSPSGPGVVVMQLNVPNGPQPPQ
NPSMVQWSHCKYYSMDQRGQKPGDLYSPDSSPQANTQMSSSPVTSPTQSPAPSPVTSLSS
VCTGLSPLPVLTQFPRPGGPAQGDGRYSLLGQPLQYNLSICPPLLHGQSTYTVHQGQSGL
KHGNRGKRQALKSASTDLGTADVVLGRVLEVTDLPEGITRTEADKLFTQLAMSGAKIQWL
KDAQGLPGGGGGDNSGTAENGRHSDLAALYTIVAVFPSPLAAQNASLRLNNSVSRFKLRM
AKKNYDLRILERASSQ
Sequence length 976
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
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
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA 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
Arthritis, Gouty Gouty arthritis GWASDB_DG 20884846, 23263486
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease GWASCAT_DG 29212778
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gout Gout GWASDB_DG 20884846, 23263486
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gout Gout Pubtator 26427508 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type II Hyperlipoproteinemia Pubtator 25278210 Associate
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 29989339 Associate
★☆☆☆☆
Found in Text Mining only
Juvenile arthritis Arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile psoriatic arthritis Juvenile arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile-Onset Still Disease Still Disease CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Osteoarthritis, Knee Knee osteoarthritis BEFREE 29855200
★☆☆☆☆
Found in Text Mining only