Gene Gene information from NCBI Gene database.
Entrez ID 55182
Gene name Ring finger protein 220
Gene symbol RNF220
Synonyms (NCBI Gene)
C1orf164HLD23
Chromosome 1
Chromosome location 1p34.1
miRNA miRNA information provided by mirtarbase database.
207
miRTarBase ID miRNA Experiments Reference
MIRT048901 hsa-miR-93-5p CLASH 23622248
MIRT138278 hsa-miR-30a-5p HITS-CLIP 22473208
MIRT138284 hsa-miR-30b-5p HITS-CLIP 22473208
MIRT138279 hsa-miR-30c-5p HITS-CLIP 22473208
MIRT138280 hsa-miR-30d-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0003358 Process Noradrenergic neuron development IEA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity ISS
GO:0005515 Function Protein binding IPI 19549727, 25266658, 28514442, 30177510, 33961781, 33964137
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
616136 25552 ENSG00000187147
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VTB9
Protein name E3 ubiquitin-protein ligase RNF220 (EC 2.3.2.27) (RING finger protein 220) (RING-type E3 ubiquitin transferase RNF220)
Protein function E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of SIN3B (By similarity). Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wn
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15926 RNF220 217 339 E3 ubiquitin-protein ligase RNF220 Family
PF15926 RNF220 336 444 E3 ubiquitin-protein ligase RNF220 Family
PF13923 zf-C3HC4_2 513 552 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Abundant in brain and spinal cord, particularly in the cerebellum and cerebral cortex. In fetal tissues expressed in the cerebellum, spinal cord and cortex. {ECO:0000269|PubMed:33964137}.
Sequence
MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQPRPFGVPVSVDKDVHI
PFTNGSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPPNLDCTPISMLNHSGVGAF
RPFASTEDRESYQSAFTPAKRLKNCHDTESPHLRFSDADGKEYDFGTQLPSSSPGSLKVD
DTGKKIFAVSGLISDREASSSPEDRNDRCKKKAAALFDSQAPICPICQVLLRPSELQEHM
EQELEQLAQLPSSKNSLLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDR
YQTFLRVRANRQTRLNARIGKMKRRKQDEGQREGS
CMAEDDAVDIEHENNNRFEEYEWCG
QKRIRATTLLEGGFRGSGFIMCSGKENPDSDADLDVDGDDTLEYGKPQYTEADVIPCTGE
EPGEAKEREALRGAVLNGGPPSTR
ITPEFSKWASDEMPSTSNGESSKQEAMQKTCKNSDI
EKITEDSAVTTFEALKARVRELERQLSRGDRYKCLICMDSYSMPLTSIQCWHVHCEECWL
RTLGAKKLCPQC
NTITAPGDLRRIYL
Sequence length 566
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.
2
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy Pathogenic rs1010750511, rs780921270 RCV001810395
RCV001807781
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Neurodegenerative Diseases Associate 36789492
TDP 43 Proteinopathies Associate 36789492