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    Rhbdf2 rhomboid 5 homolog 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 303690, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rhbdf2provided by RGD
    Official Full Name
    rhomboid 5 homolog 2provided by RGD
    Primary source
    RGD:1309699
    See related
    EnsemblRapid:ENSRNOG00000011459 AllianceGenome:RGD:1309699
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Rhbdl6
    Summary
    Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Predicted to act upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Predicted to be located in plasma membrane. Predicted to be active in endoplasmic reticulum membrane. 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, Dec 2024]
    Expression
    Biased expression in Spleen (RPKM 55.8), Lung (RPKM 40.3) and 8 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Rhbdf2 in Genome Data Viewer
    Location:
    10q32.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (102331991..102359117, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (101833157..101860283, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (105573759..105600885, complement)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene ribosomal protein L14, pseudogene 1 Neighboring gene aralkylamine N-acetyltransferase Neighboring gene cytoglobin Neighboring gene photoreceptor disc component Neighboring gene small nucleolar RNA, C/D box 1C

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Blaydon DC, et al. Am J Hum Genet, 2012 Feb 10. PMID 22265016, Free PMC Article
    2. Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling. Zettl M, et al. Cell, 2011 Apr 1. PMID 21439629, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    NOT enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT enables serine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of protein secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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

    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_001107067.2 → NP_001100537.2  inactive rhomboid protein 2

      See identical proteins and their annotated locations for NP_001100537.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      JAXUCZ010000010
      UniProtKB/TrEMBL
      F1LWZ3
      Related
      ENSRNOP00000060138.3, ENSRNOT00000068026.5
      Conserved Domains (3) summary
      pfam01694
      Location:617 → 758
      Rhomboid; Rhomboid family
      pfam12595
      Location:98 → 302
      Rhomboid_SP; Rhomboid serine protease
      cl28910
      Location:718 → 808
      MFS; Major Facilitator Superfamily

    2. NM_001270834.1 → NP_001257763.1  inactive rhomboid protein 2

      See identical proteins and their annotated locations for NP_001257763.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      JAXUCZ010000010
      UniProtKB/TrEMBL
      F1LWZ3
      Conserved Domains (3) summary
      pfam01694
      Location:617 → 758
      Rhomboid; Rhomboid family
      pfam12595
      Location:98 → 302
      Rhomboid_SP; Rhomboid serine protease
      cl28910
      Location:718 → 808
      MFS; Major Facilitator Superfamily

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086028.1 Reference GRCr8

      Range
      102331991..102359117 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039086198.2 → XP_038942126.1  inactive rhomboid protein 2 isoform X1

      UniProtKB/TrEMBL
      F1LWZ3
      Conserved Domains (3) summary
      pfam01694
      Location:617 → 758
      Rhomboid; Rhomboid family
      pfam12595
      Location:98 → 302
      Rhomboid_SP; Rhomboid serine protease
      cl28910
      Location:718 → 808
      MFS; Major Facilitator Superfamily

    2. XM_063269240.1 → XP_063125310.1  inactive rhomboid protein 2 isoform X2

      UniProtKB/TrEMBL
      A6HKX8
    Nucleotide Protein Strain
    Heading Accession and Version

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