Gene Gene information from NCBI Gene database.
Entrez ID 51444
Gene name Ring finger protein 138
Gene symbol RNF138
Synonyms (NCBI Gene)
HSD-4NARFSTRINhNARF
Chromosome 18
Chromosome location 18q12.1
Summary The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct i
miRNA miRNA information provided by mirtarbase database.
445
miRTarBase ID miRNA Experiments Reference
MIRT002787 hsa-miR-1-3p Microarray 15685193
MIRT016112 hsa-miR-421 Sequencing 20371350
MIRT002787 hsa-miR-1-3p Microarray 15685193
MIRT002787 hsa-miR-1-3p Microarray 18668037
MIRT079942 hsa-miR-29b-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 26502055, 26502057
GO:0003677 Function DNA binding IEA
GO:0003697 Function Single-stranded DNA binding IBA
GO:0003697 Function Single-stranded DNA binding IDA 26502055
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616319 17765 ENSG00000134758
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WVD3
Protein name E3 ubiquitin-protein ligase RNF138 (EC 2.3.2.27) (Nemo-like kinase-associated RING finger protein) (NLK-associated RING finger protein) (hNARF) (RING finger protein 138) (RING-type E3 ubiquitin transferase RNF138)
Protein function E3 ubiquitin-protein ligase involved in DNA damage response by promoting DNA resection and homologous recombination (PubMed:26502055, PubMed:26502057). Recruited to sites of double-strand breaks following DNA damage and specifically promotes dou
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13923 zf-C3HC4_2 17 57 Domain
PF18574 zf_C2HC_14 80 112 C2HC Zing finger domain Domain
PF05605 zf-Di19 155 216 Drought induced 19 protein (Di19), zinc-binding Domain
Sequence
MAEDLSAATSYTEDDFYCPVCQEVLKTPVRTTACQHVFCRKCFLTAMRESGAHCPLCRGN
VTRRERACPERALDLENIMRKFSGSCRCCAKQIKFYRMRHHYKSCKKYQDEYGVSSIIPN
FQISQDSVGNSNRSETSTSDNTETYQENTSSSGHPTFKCPLCQESNFTRQRLLDHCNSNH
LFQIVPVTCPICVSLPWGDPSQITRNFVSHLNQRHQ
FDYGEFVNLQLDEETQYQTAVEES
FQVNI
Sequence length 245
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.).
2
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
TREATMENT-RESISTANT HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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 Rheumatoid Rheumatoid arthritis Pubtator 36800290 Inhibit
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 22155992
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 22155992 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37768037 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22155992 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 22703586, 33378017 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 19603079
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 19603079 Associate
★☆☆☆☆
Found in Text Mining only
Episodic ataxia type 2 (disorder) Episodic Ataxia BEFREE 28167673
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 22155992, 29371697, 30272353
★☆☆☆☆
Found in Text Mining only