ENSG00000173821


Homo sapiens

Features
Gene ID: ENSG00000173821
  
Biological name :RNF213
  
Synonyms : Q63HN8 / ring finger protein 213 / RNF213
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q25.3
Gene start: 80260866
Gene end: 80398786
  
Corresponding Affymetrix probe sets: 225929_s_at (Human Genome U133 Plus 2.0 Array)   225931_s_at (Human Genome U133 Plus 2.0 Array)   230000_at (Human Genome U133 Plus 2.0 Array)   231956_at (Human Genome U133 Plus 2.0 Array)   232155_at (Human Genome U133 Plus 2.0 Array)   233880_at (Human Genome U133 Plus 2.0 Array)   241347_at (Human Genome U133 Plus 2.0 Array)   241480_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000460462
Ensembl peptide - ENSP00000464087
Ensembl peptide - ENSP00000324392
Ensembl peptide - ENSP00000425956
NCBI entrez gene - 57674     See in Manteia.
OMIM - 613768
RefSeq - XM_017024905
RefSeq - NM_020954
RefSeq - XM_005257545
RefSeq - XM_005257546
RefSeq - XM_006721995
RefSeq - XM_011525084
RefSeq - XM_011525086
RefSeq - NM_001256071
RefSeq Peptide - NP_001243000
RefSeq Peptide - NP_066005
swissprot - A0A0A0MTR7
swissprot - I3L3H9
swissprot - Q63HN8
swissprot - A0A0A0MTC1
Ensembl - ENSG00000173821
  
Related genetic diseases (OMIM): 607151 - {Moyamoya disease 2, susceptibility to}, 607151
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01058333.1ENSDARG00000113458Danio rerio
 rnf213aENSDARG00000099465Danio rerio
 RNF213ENSGALG00000039269Gallus gallus
 E9Q555ENSMUSG00000070327Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001841  Zinc finger, RING-type
 IPR003593  AAA+ ATPase domain
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR018957  Zinc finger, C3HC4 RING-type
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR031248  RNF213 protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000209 protein polyubiquitination TAS
 biological_processGO:0001525 angiogenesis IMP
 biological_processGO:0002040 sprouting angiogenesis IMP
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0051260 protein homooligomerization IDA
 biological_processGO:0051865 protein autoubiquitination IDA
 biological_processGO:2000051 negative regulation of non-canonical Wnt signaling pathway IMP
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane HDA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001009 Telangiectasia "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators]
Show

 HP:0001249 Mental retardation 
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0002119 Ventriculomegaly 
Show

 HP:0100659 Abnormality of the cerebral vasculature 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

5 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr