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Rhbdf2 Gene Detail
Summary
  • Symbol
    Rhbdf2
  • Name
    rhomboid 5 homolog 2
  • Synonyms
    4732465I17Rik, cub, iRhom2, Rhbdl6
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442473
    NCBI Gene: 217344
  • Gene Overview
    MyGene.info: RHBDF2
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:116598165-116627019 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 81.43 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    133 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442473
protein coding gene Chr11:116598165-116627019 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019433
protein coding gene Chr11:120733456-120767642 (-)
A/J MGP_AJ_G0019401
protein coding gene Chr11:115451240-115481119 (-)
AKR/J MGP_AKRJ_G0019372
protein coding gene Chr11:118885603-118915760 (-)
BALB/cJ MGP_BALBcJ_G0019376
protein coding gene Chr11:115848517-115878108 (-)
C3H/HeJ MGP_C3HHeJ_G0019182
protein coding gene Chr11:119243472-119273725 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019825
protein coding gene Chr11:124419097-124462132 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017449
protein coding gene Chr11:112462864-112491407 (-)
CAST/EiJ MGP_CASTEiJ_G0018737
protein coding gene Chr11:120621502-120650050 (-)
CBA/J MGP_CBAJ_G0019153
protein coding gene Chr11:129348680-129378162 (-)
DBA/2J MGP_DBA2J_G0019265
protein coding gene Chr11:114878390-114907631 (-)
FVB/NJ MGP_FVBNJ_G0019257
protein coding gene Chr11:114387464-114418183 (-)
LP/J MGP_LPJ_G0019335
protein coding gene Chr11:121120251-121152851 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019290
protein coding gene Chr11:128381316-128415868 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019864
protein coding gene Chr11:119549387-119580083 (-)
PWK/PhJ MGP_PWKPhJ_G0018501
protein coding gene Chr11:116206327-116235507 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018294
protein coding gene Chr11:119302869-119331876 (-)
WSB/EiJ MGP_WSBEiJ_G0018789
protein coding gene Chr11:119516989-119547765 (-)



Homology
more
  • Human Ortholog
    RHBDF2, rhomboid 5 homolog 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RHBDF2, rhomboid 5 homolog 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    iRhom2, RHBDL5, RHBDL6, TEC, TOC, TOCG
  • Links
    NCBI Gene ID: 79651
    neXtProt AC: NX_Q6PJF5
    UniProt: Q6PJF5

  • Chr Location
    17q25.1; chr17:76470893-76501440 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 7 alleles in 9 genetic backgrounds
    15 phenotypes from multigenic genotypes
    2 images
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation display impaired TNF secretion and increased sensitivity to bacterial infection induced mortality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 217344 NCBI Gene Model | MGI Sequence Detail 28855 C57BL/6J ±  kb
transcript NM_172572 RefSeq | MGI Sequence Detail 3927 C57BL/6  
polypeptide Q80WQ6 UniProt | EBI | MGI Sequence Detail 827 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 54
    cDNA 47
    Primer pair 7

    Microarray probesets 3
Other
Accession IDs
less
MGI:1890800
References
more
  • Summaries
    All 60
    Developmental Gene Expression 2
    Gene Ontology 8
    Phenotypes 34
  • 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:264397 Kunzel U, et al., FRMD8 promotes inflammatory and growth factor signalling by stabilising the iRhom/ADAM17 sheddase complex. Elife. 2018 Jun 13;7

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
11/13/2018
MGI 6.13
The Jackson Laboratory