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Rhbdf2 rhomboid 5 homolog 2 [ Mus musculus (house mouse) ]

Gene ID: 217344, updated on 21-Apr-2024

Summary

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Official Symbol
Rhbdf2provided by MGI
Official Full Name
rhomboid 5 homolog 2provided by MGI
Primary source
MGI:MGI:2442473
See related
Ensembl:ENSMUSG00000020806 AllianceGenome:MGI:2442473
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
cub; Uncv; Rhbdl6; 4732465I17Rik
Summary
Involved in negative regulation of protein secretion. Located in endoplasmic reticulum membrane. Used to study nonepidermolytic palmoplantar keratoderma. Human ortholog(s) of this gene implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. Orthologous to human RHBDF2 (rhomboid 5 homolog 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in ovary adult (RPKM 35.3), spleen adult (RPKM 33.7) and 21 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11; 11 E2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (116488991..116517786, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (116598148..116626960, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene sphingosine kinase 1 Neighboring gene ubiquitin-conjugating enzyme E2O Neighboring gene STARR-seq mESC enhancer starr_31212 Neighboring gene arylalkylamine N-acetyltransferase Neighboring gene STARR-seq mESC enhancer starr_31215 Neighboring gene STARR-seq mESC enhancer starr_31216 Neighboring gene cytoglobin Neighboring gene photoreceptor disc component Neighboring gene STARR-positive B cell enhancer ABC_E471 Neighboring gene small nucleolar RNA, C/D box 1C Neighboring gene small nucleolar RNA host gene 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The iRhom homology domain is indispensable for ADAM17-mediated TNFα and EGF receptor ligand release. Düsterhöft S, et al. Cell Mol Life Sci, 2021 Jun. PMID 33950315, Free PMC Article
  2. Deficiency of inactive rhomboid protein 2 (iRhom2) attenuates diet-induced hyperlipidaemia and early atherogenesis. Hannemann C, et al. Cardiovasc Res, 2022 Jan 7. PMID 33576385, Free PMC Article
  3. Functional loss of inactive rhomboid-like protein 2 mitigates obesity by suppressing pro-inflammatory macrophage activation-triggered adipose inflammation. Xu M, et al. Mol Metab, 2020 Apr. PMID 32180551, Free PMC Article
  4. Loss of iRhom2 accelerates fat gain and insulin resistance in diet-induced obesity despite reduced adipose tissue inflammation. Skurski J, et al. Metabolism, 2020 May. PMID 32135161
  5. A genome-wide association study in mice reveals a role for Rhbdf2 in skeletal homeostasis. Levy R, et al. Sci Rep, 2020 Feb 24. PMID 32094386, Free PMC Article

See all (78) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. iRhom2 regulates ectodomain shedding and surface expression of the major histocompatibility complex (MHC) class I.
    Title: iRhom2 regulates ectodomain shedding and surface expression of the major histocompatibility complex (MHC) class I.
  2. Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway.
    Title: Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway.
  3. Palmitoyltransferase ZDHHC3 Aggravates Nonalcoholic Steatohepatitis by Targeting S-Palmitoylated IRHOM2.
    Title: Palmitoyltransferase ZDHHC3 Aggravates Nonalcoholic Steatohepatitis by Targeting S-Palmitoylated IRHOM2.
  4. Single High-Dose Irradiation-Induced iRhom2 Upregulation Promotes Macrophage Antitumor Activity Through cGAS/STING Signaling.
    Title: Single High-Dose Irradiation-Induced iRhom2 Upregulation Promotes Macrophage Antitumor Activity Through cGAS/STING Signaling.
  5. Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice.
    Title: Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice.
  6. Deficiency in Inactive Rhomboid Protein2 (iRhom2) Alleviates Alcoholic Liver Fibrosis by Suppressing Inflammation and Oxidative Stress.
    Title: Deficiency in Inactive Rhomboid Protein2 (iRhom2) Alleviates Alcoholic Liver Fibrosis by Suppressing Inflammation and Oxidative Stress.
  7. The E3 ubiquitin-protein ligase Trim31 alleviates non-alcoholic fatty liver disease by targeting Rhbdf2 in mouse hepatocytes.
    Title: The E3 ubiquitin-protein ligase Trim31 alleviates non-alcoholic fatty liver disease by targeting Rhbdf2 in mouse hepatocytes.
  8. Deficiency of inactive rhomboid protein 2 (iRhom2) attenuates diet-induced hyperlipidaemia and early atherogenesis.
    Title: Deficiency of inactive rhomboid protein 2 (iRhom2) attenuates diet-induced hyperlipidaemia and early atherogenesis.
  9. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.
    Title: Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.
  10. Inflammatory activation of surface molecule shedding by upregulation of the pseudoprotease iRhom2 in colon epithelial cells.
    Title: Inflammatory activation of surface molecule shedding by upregulation of the pseudoprotease iRhom2 in colon epithelial cells.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
NOT enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of protein secretion IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of metalloendopeptidase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in regulation of protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 PubMed 

General protein information

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Preferred Names
inactive rhomboid protein 2
Names
iRhom2
rhomboid family member 2
rhomboid veinlet-like protein 6
rhomboid, veinlet-like 6
rhomboid-like protein 6
rhomboid-related protein
uncovered

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001167680.2 → NP_001161152.1  inactive rhomboid protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001161152.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, as compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL607039
    Consensus CDS
    CCDS25672.1
    UniProtKB/Swiss-Prot
    Q3TBR9, Q80WQ6, Q8BJ70, Q8K2I7
    Related
    ENSMUSP00000099318.4, ENSMUST00000103029.10
    Conserved Domains (3) summary
    pfam01694
    Location:619 → 760
    Rhomboid; Rhomboid family
    pfam12595
    Location:98 → 304
    Rhomboid_SP; Rhomboid serine protease
    cl19823
    Location:719 → 803
    GtrA; GtrA-like protein

  2. NM_001403627.1 → NP_001390556.1  inactive rhomboid protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL607039

  3. NM_001403628.1 → NP_001390557.1  inactive rhomboid protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL607039

  4. NM_172572.4 → NP_766160.2  inactive rhomboid protein 2 isoform 1

    See identical proteins and their annotated locations for NP_766160.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL607039
    Consensus CDS
    CCDS25672.1
    UniProtKB/Swiss-Prot
    Q3TBR9, Q80WQ6, Q8BJ70, Q8K2I7
    Related
    ENSMUSP00000099317.2, ENSMUST00000103028.8
    Conserved Domains (3) summary
    pfam01694
    Location:619 → 760
    Rhomboid; Rhomboid family
    pfam12595
    Location:98 → 304
    Rhomboid_SP; Rhomboid serine protease
    cl19823
    Location:719 → 803
    GtrA; GtrA-like protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    116488991..116517786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80WQ6.1 GenPept UniProtKB/Swiss-Prot:Q80WQ6

Gene LinkOut

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