About   Help   FAQ
Rhbdf2 Gene Detail
Summary
  • Symbol
    Rhbdf2
  • Name
    rhomboid 5 homolog 2
  • Synonyms
    4732465I17Rik, cub, iRhom2, Rhbdl6, Uncv
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442473
    NCBI Gene: 217344
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:116488991-116517786 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, Syntenic
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    132 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 Chr11:116488991-116517845 (-)
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
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RHBDF2, rhomboid 5 homolog 2
  • Synonyms
    iRhom2, RHBDL5, RHBDL6, TOC, TOCG
  • Links
    NCBI Gene ID: 79651
    neXtProt AC: NX_Q6PJF5
    UniProt: Q6PJF5

  • Chr Location
    17q25.1; chr17:76470891-76501790 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Rhbdf2 mouse models; 1 with human RHBDF2 associations

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    40 phenotypes from 10 alleles in 14 genetic backgrounds
    17 phenotypes from multigenic genotypes
    2 images
    59 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    22
  • GO References
    8
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    724
  • Tissues
    5
  • cDNA Data
    47
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 217344 NCBI Gene Model | MGI Sequence Detail 28796 C57BL/6J ±  kb
    transcript NM_172572 RefSeq | MGI Sequence Detail 3800 ZRU/MplStud  
    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:1261908, MGI:1890800
    References
    more
    • Summaries
      All 87
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 8
      Phenotypes 59
    • Earliest
      J:52604 Li SR, et al., Uncv (uncovered): a new mutation causing hairloss on mouse chromosome 11. Genet Res. 1999 Jun;73(3):233-8
    • Latest
      J:338016 Rabinowitsch AI, et al., Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice. J Cell Sci. 2023 Jul 1;136(13):jcs260910
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory