Gene Gene information from NCBI Gene database.
Entrez ID 154214
Gene name Ring finger protein 217
Gene symbol RNF217
Synonyms (NCBI Gene)
C6orf172IBRDC1OSTLdJ84N20.1
Chromosome 6
Chromosome location 6q22.31
Summary This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protei
miRNA miRNA information provided by mirtarbase database.
148
miRTarBase ID miRNA Experiments Reference
MIRT027193 hsa-miR-103a-3p Sequencing 20371350
MIRT031927 hsa-miR-16-5p Sequencing 20371350
MIRT469048 hsa-miR-5190 HITS-CLIP 19536157
MIRT720700 hsa-miR-877-3p HITS-CLIP 19536157
MIRT469047 hsa-miR-205-5p HITS-CLIP 19536157
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:0000151 Component Ubiquitin ligase complex IBA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity ISS
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618592 21487 ENSG00000146373
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TC41
Protein name E3 ubiquitin-protein ligase RNF217 (EC 2.3.2.31) (IBR domain-containing protein 1) (Opposite STL) (RING finger protein 217)
Protein function E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the degradation of the iron exporter ferroportin/SLC4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01485 IBR 327 396 IBR domain, a half RING-finger domain Domain
PF01485 IBR 403 461 IBR domain, a half RING-finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in testis and skeletal muscle. {ECO:0000269|PubMed:25298122}.
Sequence
MGEEQSTVSGGGGPQESQTLASGTAGHPEPPRPQGDSARAPPLRAASAEPSGGGCGSDWG
CADTSAPEPARSLGPPGWSKSRAPAQPAGLALTGPLNPQTLPLQLELEEEEEEAGDRKEG
GDEQQEAPPGEELEPRTRVGAADGLVLDVLGQRRPSLAKRQVFCSVYCVESDLPEAPASE
QLSPPASPPGAPPVLNPPSTRSSFPSPRLSLPTDSLSPDGGSIELEFYLAPEPFSMPSLL
GAPPYSGLGGVGDPYVPLMVLMCRVCLEDKPIKPLPCCKKAVCEECLKVYLSAQVQLGQV
EIKCPITECFEFLEETTVVYNLTHEDSIKYKYFLELGRIDSSTKPCPQCKHFTTFKKKGH
IPTPSRSESKYKIQCPTCQFVWCFKCHSPWHEGVNC
KEYKKGDKLLRHWASEIEHGQRNA
QKCPKCKIHIQRTEGCDHMTCSQCNTNFCYRCGERYRQLRF
FGDHTSNLSIFGCKYRYLP
ERPHLRRLVRGSVCAGKLFIAPLIMVLGLALGAIAVVIGLFVFPIYCLCKKQRKRSRTGM
HW
Sequence length 542
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
Multiple sclerosis, susceptibility to risk factor ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TONSILLITIS 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
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 25298122
★☆☆☆☆
Found in Text Mining only
Keratoconus Keratoconus Pubtator 39300613 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 25298122 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 25298122 Associate
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma Pubtator 31948430 Associate
★☆☆☆☆
Found in Text Mining only
Myeloid Leukemia, Chronic Myeloid Leukemia BEFREE 25298122
★☆☆☆☆
Found in Text Mining only