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Rhbdf2
Gene Detail
 Symbol
Name
ID
Rhbdf2
rhomboid 5 homolog 2 (Drosophila)
MGI:2442473
Synonyms 4732465I17Rik, iRhom2, Rhbdl6
Feature Type protein coding gene
Genetic Map
Chromosome 11
81.43 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr11:116598165-116627019 bp, - strand
From VEGA annotation of GRCm38

  28855 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11612  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Gene Tree: Rhbdf2

Human
homologs
Human Homolog RHBDF2, rhomboid 5 homolog 2 (Drosophila)
NCBI Gene ID 79651
neXtProt AC  NX_Q6PJF5
Human Synonyms  RHBDL5, RHBDL6, TOC, TOCG
Human Chr (Location)  17q25.1; chr17:76470893-76501427 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human RHBDF2
Mutations,
alleles, and
phenotypes
All mutations/alleles(38) : Chemically induced (ENU)(1) Gene trapped(32) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null mutation display impaired TNF secretion and increased sensitivity to bacterial infection induced mortality.
 
Interactions
Rhbdf2 interacts with 127 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process negative regulation of protein secretion, protein transport, ...
Component endoplasmic reticulum, endoplasmic reticulum membrane, ...
External Resources: FuncBase
Expression
cDNA source data(46)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(46) cDNA(46)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000003950 (Evidence)
Ensembl Gene ModelENSMUSG00000020806 (Evidence)
Entrez Gene217344 (Evidence)
UniGene89695
DFCITC1576469, TC1593898
DoTSDT.101199896, DT.91433644, DT.97390335
Consensus CDS ProjectCCDS25672.1
International Mouse Knockout Project StatusRhbdf2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003950 VEGA Gene Model | MGI Sequence Detail 28855 C57BL/6J ±  kb
transcript OTTMUST00000008766 VEGA | MGI Sequence Detail 3593 Not Applicable 
polypeptide OTTMUSP00000004274 VEGA | MGI Sequence Detail 827 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(6) UniProt(2)
Polymorphisms SNPs within 2kb(137 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002610 Peptidase S54, rhomboid
InterPro IPR022764 Peptidase S54, rhomboid domain
InterPro IPR022241 Rhomboid serine protease
Protein Ontology PR:000013969 inactive rhomboid protein 2
References (Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:203951 Christova Y, et al., Mammalian iRhoms have distinct physiological functions including an essential role in TACE regulation. EMBO Rep. 2013 Oct;14(10):884-90
All references(39)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory