Rnf213 Gene Detail

Summary

• Symbol
  Rnf213
• Name
  ring finger protein 213
• Synonyms
  D11Ertd759e

• Feature Type
  protein coding gene
• IDs
  MGI:1289196
  NCBI Gene: 672511
• Alliance
  gene page
• Transcription Start Sites
  47 TSS

Location &
Maps

• Sequence Map
  Chr11:119283926-119378244 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 11, 83.48 cM
• Mapping Data
  2 experiments

Strain
Comparison

• SNPs within 2kb
  2031 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1289196	protein coding gene	Chr11:119280778-119378245 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019482	protein coding gene	Chr11:123791042-123893548 (+)
A/J	MGP_AJ_G0019450	protein coding gene	Chr11:118291192-118390652 (+)
AKR/J	MGP_AKRJ_G0019420	protein coding gene	Chr11:121854494-121953499 (+)
BALB/cJ	MGP_BALBcJ_G0019425	protein coding gene	Chr11:118649549-118747833 (+)
C3H/HeJ	MGP_C3HHeJ_G0019231	protein coding gene	Chr11:122171728-122279446 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019874	protein coding gene	Chr11:127549596-127657623 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017499	protein coding gene	Chr11:115283162-115386360 (+)
CAST/EiJ	MGP_CASTEiJ_G0018785	protein coding gene	Chr11:123645335-123751472 (+)
CBA/J	MGP_CBAJ_G0019202	protein coding gene	Chr11:132501763-132635207 (+)
DBA/2J	MGP_DBA2J_G0019314	protein coding gene	Chr11:117662004-117761254 (+)
FVB/NJ	MGP_FVBNJ_G0019306	protein coding gene	Chr11:117334160-117437647 (+)
LP/J	MGP_LPJ_G0019386	protein coding gene	Chr11:124105494-124210587 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019339	protein coding gene	Chr11:131437810-131541512 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019913	protein coding gene	Chr11:122532826-122636131 (+)
PWK/PhJ	MGP_PWKPhJ_G0018551	protein coding gene	Chr11:119071477-119170165 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018343	protein coding gene	Chr11:122293145-122396553 (+)
WSB/EiJ	MGP_WSBEiJ_G0018837	protein coding gene	Chr11:122518233-122624928 (+)

Homology

• Human Ortholog
  RNF213, ring finger protein 213

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  RNF213, ring finger protein 213
  
• Synonyms
  ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57
• Links
  HGNC:14539

  NCBI Gene ID: 57674

  neXtProt AC: NX_Q63HN8

  UniProt: Q63HN8

  
  
• Chr Location
  17q25.3

---

• MGI Vertebrate Homology
  Rnf213 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: RNF213
• Gene Tree
  Rnf213
  

Human Diseases

• Diseases
  1 with human RNF213 associations

Human Disease

Mouse Models

Moyamoya disease

IDs

Moyamoya disease      

DOID:13099
ICD10CM:I67.5
ICD9CM:437.5
MESH:D009072
NCI:C84895
OMIM:252350
OMIM:300845
OMIM:607151
OMIM:608796
OMIM:614042
OMIM:615750
ORDO:2573
ORDO:280679
ORDO:401945
UMLS_CUI:C0026654

View 1 "NOT" model

Mouse Models

Human Disease Modeled: Moyamoya disease

NOT Models
No similarity to the expected human disease phenotype was found.

Allelic Composition	Genetic Background	Reference	Phenotypes
Rnf213tm1.1Mfuji/Rnf213tm1.1Mfuji	involves: C57BL/6	J:229422	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  7 phenotypes from 3 alleles in 3 genetic backgrounds
  9 phenotypes from multigenic genotypes
  16 phenotype references
  

• All Mutations and Alleles
  14
• Endonuclease-mediated
  3
• Gene trapped
  7
• Targeted
  4
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  192 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased body weight and circulating glucose level but normal glucose tolerance, insulin sensitivity, insulin plasma levels and leptin plasma levels.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  53
• GO References
  8

Expression

• Assay Results
  747
• Tissues
  6
• cDNA Data
  39
• Literature Summary
  2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase rnf213
  ZFIN rnf213a

Sequences &
Gene Models

• All Sequences
  58
• RefSeq
  12
• UniProt
  9

• Ensembl
  ENSMUSG00000070327 (Evidence)
• NCBI Gene
  672511

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000070327	Ensembl Gene Model | MGI Sequence Detail	94319	C57BL/6J
transcript	ENSMUST00000093902	Ensembl | MGI Sequence Detail	16716	Not Applicable
polypeptide	ENSMUSP00000091429	Ensembl | MGI Sequence Detail	5152	Not Applicable

Protein
Information

• UniProt
  9 Sequences
• Protein Ontology
  PR:000014120 E3 ubiquitin-protein ligase RNF213
  (term hierarchy)
• PDB
  6TAX, 6TAY, 7OIK, 7OIM
• EC
  2.3.2.-, 2.3.2.27, 3.6.4.-
• InterPro Domains
  IPR003593 AAA+ ATPase domain
  IPR031248 E3 ubiquitin-protein ligase RNF213
  IPR027417 P-loop containing nucleoside triphosphate hydrolase
  IPR018957 Zinc finger, C3HC4 RING-type
  IPR013083 Zinc finger, RING/FYVE/PHD-type
  IPR001841 Zinc finger, RING-type
  IPR017907 Zinc finger, RING-type, conserved site
  IPR046439 Zinc finger, RZ-type
• GlyGen
  E9Q555 3 sites, 1 O-linked glycan (3 sites)

Molecular
Reagents

• All nucleic 41

  cDNA 39

  Primer pair 2

  
  

  Microarray probesets 16

References

• Summaries
  All 50

  Developmental Gene Expression 2

  Diseases 1

  Gene Ontology 8

  Phenotypes 16
• Earliest
  J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
• Latest
  J:342279 Li S, et al., Knockout of Rnf213 Ameliorates Cerebral Ischemic-reperfusion Injury by Inhibiting Neuronal Apoptosis Through the Akt/GSK-3beta/beta-catenin/Bcl-2 Pathway. Neuroscience. 2023 Sep 29;533:10-21

TSS for Rnf213:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr106191	Chr11:119283081-119283095 (+)	-838 bp
Tssr106192	Chr11:119283104-119283119 (+)	-814 bp
Tssr106193	Chr11:119283772-119283784 (+)	-148 bp
Tssr106194	Chr11:119283837-119283844 (+)	-85 bp
Tssr106195	Chr11:119283886-119283909 (+)	-28 bp
Tssr106196	Chr11:119284217-119284251 (+)	308 bp
Tssr106197	Chr11:119288761-119288782 (+)	4,846 bp
Tssr106198	Chr11:119294489-119294497 (+)	10,567 bp
Tssr106199	Chr11:119301020-119301032 (+)	17,100 bp
Tssr106200	Chr11:119306552-119306559 (+)	22,630 bp
Tssr106201	Chr11:119309064-119309082 (+)	25,147 bp
Tssr106202	Chr11:119313266-119313304 (+)	29,359 bp
Tssr106203	Chr11:119313910-119313928 (+)	29,993 bp
Tssr106204	Chr11:119314220-119314224 (+)	30,296 bp
Tssr106205	Chr11:119316834-119316848 (+)	32,915 bp
Tssr106206	Chr11:119316885-119316896 (+)	32,965 bp
Tssr106207	Chr11:119316916-119316925 (+)	32,995 bp
Tssr106208	Chr11:119318835-119318856 (+)	34,920 bp
Tssr106209	Chr11:119318893-119318914 (+)	34,978 bp
Tssr106210	Chr11:119321084-119321103 (+)	37,168 bp
Tssr106211	Chr11:119321108-119321120 (+)	37,188 bp
Tssr106212	Chr11:119325573-119325621 (+)	41,671 bp
Tssr106213	Chr11:119327555-119327575 (+)	43,639 bp
Tssr106214	Chr11:119327694-119327714 (+)	43,778 bp
Tssr106215	Chr11:119331726-119331742 (+)	47,808 bp
Tssr106216	Chr11:119332409-119332425 (+)	48,491 bp
Tssr106217	Chr11:119333585-119333597 (+)	49,665 bp
Tssr106218	Chr11:119335079-119335089 (+)	51,158 bp
Tssr106219	Chr11:119338369-119338408 (+)	54,463 bp
Tssr106220	Chr11:119339574-119339597 (+)	55,660 bp
Tssr106221	Chr11:119344915-119344923 (+)	60,993 bp
Tssr106222	Chr11:119345410-119345451 (+)	61,505 bp
Tssr106223	Chr11:119347766-119347777 (+)	63,846 bp
Tssr106224	Chr11:119348082-119348100 (+)	64,165 bp
Tssr106225	Chr11:119355941-119355974 (+)	72,032 bp
Tssr106226	Chr11:119359852-119359867 (+)	75,934 bp
Tssr106227	Chr11:119359880-119359894 (+)	75,961 bp
Tssr106228	Chr11:119359990-119360036 (+)	76,087 bp
Tssr106229	Chr11:119366874-119366881 (+)	82,952 bp
Tssr106230	Chr11:119377010-119377030 (+)	93,094 bp
Tssr106231	Chr11:119377050-119377065 (+)	93,132 bp
Tssr106232	Chr11:119377069-119377111 (+)	93,164 bp
Tssr106233	Chr11:119377120-119377161 (+)	93,215 bp
Tssr106234	Chr11:119377190-119377220 (+)	93,279 bp
Tssr106235	Chr11:119377228-119377304 (+)	93,340 bp
Tssr106236	Chr11:119377305-119377316 (+)	93,385 bp
Tssr106237	Chr11:119377328-119377339 (+)	93,408 bp