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

Gene ID: 303690, updated on 18-Sep-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 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, Apr 2022]
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 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

    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

    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

Gene LinkOut

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