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

    Gene ID: 217344, updated on 12-Nov-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. Acts upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Located in endoplasmic reticulum membrane and plasma membrane. Used to study palmoplantar keratoderma-esophageal carcinoma syndrome. 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, Nov 2024]
    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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    See Rhbdf2 in Genome Data Viewer
    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 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. iRhom2-mediated proinflammatory signalling regulates heart repair following myocardial infarction. Barnette DN, et al. JCI Insight, 2018 Feb 8. PMID 29415889, Free PMC Article
    2. Deletion of iRhom2 protects against diet-induced obesity by increasing thermogenesis. Badenes M, et al. Mol Metab, 2020 Jan. PMID 31918923, Free PMC Article
    3. iRhom2 inhibits bile duct obstruction-induced liver fibrosis. Sundaram B, et al. Sci Signal, 2019 Oct 29. PMID 31662486
    4. 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
    5. Inactive Rhomboid Protein 2 Mediates Intestinal Inflammation by Releasing Tumor Necrosis Factor-α. Kim JH, et al. Inflamm Bowel Dis, 2020 Jan 6. PMID 31586441

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. iRhom2 deficiency reduces sepsis-induced mortality associated with the attenuation of lung macrophages in mice.
      Title: iRhom2 deficiency reduces sepsis-induced mortality associated with the attenuation of lung macrophages in mice.
    2. Role of iRhom2 in Olfaction: Implications for Odorant Receptor Regulation and Activity-Dependent Adaptation.
      Title: Role of iRhom2 in Olfaction: Implications for Odorant Receptor Regulation and Activity-Dependent Adaptation.
    3. 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.
    4. 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.
    5. Palmitoyltransferase ZDHHC3 Aggravates Nonalcoholic Steatohepatitis by Targeting S-Palmitoylated IRHOM2.
      Title: Palmitoyltransferase ZDHHC3 Aggravates Nonalcoholic Steatohepatitis by Targeting S-Palmitoylated IRHOM2.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (52)

    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 
    involved_in 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 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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