Gene Gene information from NCBI Gene database.
Entrez ID 6049
Gene name Ring finger protein 6
Gene symbol RNF6
Synonyms (NCBI Gene)
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Chromosome 13
Chromosome location 13q12.13
Summary The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse count
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs121434522 C>T Pathogenic Missense variant, coding sequence variant
rs121434523 C>T Pathogenic Intron variant, missense variant, coding sequence variant
rs121434524 C>T Pathogenic Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
262
miRTarBase ID miRNA Experiments Reference
MIRT021102 hsa-miR-186-5p Sequencing 20371350
MIRT024905 hsa-miR-215-5p Microarray 19074876
MIRT026154 hsa-miR-192-5p Microarray 19074876
MIRT029039 hsa-miR-26b-5p Sequencing 20371350
MIRT038456 hsa-miR-296-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0004842 Function Ubiquitin-protein transferase activity IMP 19345326
GO:0005515 Function Protein binding IPI 19345326
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 19345326
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604242 10069 ENSG00000127870
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y252
Protein name E3 ubiquitin-protein ligase RNF6 (EC 2.3.2.27)
Protein function E3 ubiquitin-protein ligase mediating 'Lys-48'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation (By similarity). Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover (By
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13639 zf-RING_2 630 673 Ring finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Weakly expressed in peripheral blood, spleen, prostate, testis and ovary (PubMed:19345326). According to a report, it is preferentially expressed in testis and ovary and hardly detected in other tissues (PubMed:18368307). {ECO:0000269|
Sequence
MNQSRSRSDGGSEETLPQDHNHHENERRWQQERLHREEAYYQFINELNDEDYRLMRDHNL
LGTPGEITSEELQQRLDGVKEQLASQPDLRDGTNYRDSEVPRESSHEDSLLEWLNTFRRT
GNATRSGQNGNQTWRAVSRTNPNNGEFRFSLEIHVNHENRGFEIHGEDYTDIPLSDSNRD
HTANRQQRSTSPVARRTRSQTSVNFNGSSSNIPRTRLASRGQNPAEGSFSTLGRLRNGIG
GAAGIPRANASRTNFSSHTNQSGGSELRQREGQRFGAAHVWENGARSNVTVRNTNQRLEP
IRLRSTSNSRSRSPIQRQSGTVYHNSQRESRPVQQTTRRSVRRRGRTRVFLEQDRERERR
GTAYTPFSNSRLVSRITVEEGEESSRSSTAVRRHPTITLDLQVRRIRPGENRDRDSIANR
TRSRVGLAENTVTIESNSGGFRRTISRLERSGIRTYVSTITVPLRRISENELVEPSSVAL
RSILRQIMTGFGELSSLMEADSESELQRNGQHLPDMHSELSNLGTDNNRSQHREGSSQDR
QAQGDSTEMHGENETTQPHTRNSDSRGGRQLRNPNNLVETGTLPILRLAHFFLLNESDDD
DRIRGLTKEQIDNLSTRHYEHNSIDSELGKICSVCISDYVTGNKLRQLPCMHEFHIHCID
RWLSENCTCPICR
QPVLGSNIANNG
Sequence length 685
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Esophageal squamous cell carcinoma, somatic Pathogenic rs121434522, rs121434523, rs121434524 RCV000006054
RCV000006055
RCV000006056
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 28223545, 31063232
Leukemia Associate 28223545, 35926709
Leukemia Myelogenous Chronic BCR ABL Positive Associate 35926709
Multiple Myeloma Associate 31645658, 35926709
Neoplasms Associate 28223545, 31645658, 34081837, 35369571, 35926709, 37904524
Prostatic Neoplasms Associate 28223545
Retinoblastoma Associate 35369571
Stomach Neoplasms Associate 37904524
Uterine Cervical Neoplasms Associate 34081837