Gene Gene information from NCBI Gene database.
Entrez ID 55905
Gene name Ring finger protein 114
Gene symbol RNF114
Synonyms (NCBI Gene)
PSORS12ZNF313
Chromosome 20
Chromosome location 20q13.13
miRNA miRNA information provided by mirtarbase database.
890
miRTarBase ID miRNA Experiments Reference
MIRT025727 hsa-miR-7-5p Microarray 19073608
MIRT1309423 hsa-miR-10a CLIP-seq
MIRT1309424 hsa-miR-10b CLIP-seq
MIRT1309425 hsa-miR-1184 CLIP-seq
MIRT1309426 hsa-miR-1193 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA
GO:0005515 Function Protein binding IPI 19549727, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612451 13094 ENSG00000124226
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y508
Protein name E3 ubiquitin-protein ligase RNF114 (EC 2.3.2.27) (RING finger protein 114) (RING-type E3 ubiquitin transferase RNF114) (Zinc finger protein 228) (Zinc finger protein 313)
Protein function E3 ubiquitin-protein ligase that promotes the ubiquitination of various substrates (PubMed:23645206, PubMed:25165885). In turn, participates in the regulation of many biological processes including cell cycle, apoptosis, osteoclastogenesis as we
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13445 zf-RING_UBOX 29 71 RING-type zinc-finger Domain
PF18574 zf_C2HC_14 85 117 C2HC Zing finger domain Domain
PF05605 zf-Di19 139 200 Drought induced 19 protein (Di19), zinc-binding Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in numerous tissues, including skin, CD4 lymphocytes and dendritic cells. Highest levels in testis. {ECO:0000269|PubMed:18364390}.
Sequence
Sequence length 228
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.).
6
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
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE 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 Psoriatic Psoriatic arthritis Pubtator 21623003 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37878693 Associate
★☆☆☆☆
Found in Text Mining only
Frontotemporal Dementia Frontotemporal dementia Pubtator 37979250 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 24871463 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus BEFREE 24871463
★☆☆☆☆
Found in Text Mining only
Mouth Neoplasms Mouth neoplasm Pubtator 36142544 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 26067772
★☆☆☆☆
Found in Text Mining only
Pemphigus Pemphigus BEFREE 30083474
★☆☆☆☆
Found in Text Mining only
Psoriasis Psoriasis BEFREE 18364390, 21571784, 23617596, 24631332, 25182136, 28625874, 28708287
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Psoriasis Psoriasis Pubtator 20953189 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations