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    Rhbdd2 rhomboid domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 215160, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Rhbdd2provided by MGI
    Official Full Name
    rhomboid domain containing 2provided by MGI
    Primary source
    MGI:MGI:1915612
    See related
    Ensembl:ENSMUSG00000039917 AllianceGenome:MGI:1915612
    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
    Usmg1; Rhbdl7; 0610011L13Rik
    Summary
    Predicted to enable serine-type endopeptidase activity. Located in Golgi membrane and perinuclear region of cytoplasm. Is expressed in several structures, including eye; gonad; hemolymphoid system gland; liver; and lung. Orthologous to human RHBDD2 (rhomboid domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 19.1), ovary adult (RPKM 12.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 G2; 5 75.31 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (135661508..135675230)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (135632654..135646376)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene C-C motif chemokine ligand 26 Neighboring gene C-C motif chemokine ligand 24 Neighboring gene STARR-seq mESC enhancer starr_14582 Neighboring gene STARR-positive B cell enhancer ABC_E9264 Neighboring gene STARR-seq mESC enhancer starr_14584 Neighboring gene STARR-seq mESC enhancer starr_14585 Neighboring gene predicted gene 15607 Neighboring gene STARR-positive B cell enhancer ABC_E435 Neighboring gene cytochrome p450 oxidoreductase Neighboring gene predicted gene, 40345 Neighboring gene 40S ribosomal protein S2 pseudogene

    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. Focal adhesion protein zyxin is a mechanosensitive modulator of gene expression in vascular smooth muscle cells. Cattaruzza M, et al. Hypertension, 2004 Apr. PMID 14967842
    2. Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa. Ahmedli NB, et al. J Biol Chem, 2013 Apr 5. PMID 23386608, Free PMC Article
    3. Upregulation of μ3A Drives Homeostatic Plasticity by Rerouting AMPAR into the Recycling Endosomal Pathway. Steinmetz CC, et al. Cell Rep, 2016 Sep 6. PMID 27568566, Free PMC Article
    4. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RHBDD2 protein plays important roles in the development and normal function of the retina
      Title: Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC18730

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rhomboid domain-containing protein 2
    Names
    rhomboid, veinlet-like 7
    rhomboid-like protein 7
    upregulated during skeletal muscle growth 1

    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_001357037.1 → NP_001343966.1  rhomboid domain-containing protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC083948
      Conserved Domains (1) summary
      cl21536
      Location:1 → 56
      Rhomboid; Rhomboid family

    2. NM_146002.2 → NP_666114.1  rhomboid domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_666114.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC083948, AK041845, AK140006
      Consensus CDS
      CCDS19743.1
      UniProtKB/Swiss-Prot
      Q3TT71, Q4G0C4, Q8VEK2
      Related
      ENSMUSP00000049060.7, ENSMUST00000043707.7
      Conserved Domains (1) summary
      pfam01694
      Location:54 → 201
      Rhomboid; Rhomboid family

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      135661508..135675230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254359.2 → XP_030110219.1  rhomboid domain-containing protein 2 isoform X1

      Conserved Domains (1) summary
      cl21536
      Location:1 → 56
      Rhomboid; Rhomboid family

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031398.1: Suppressed sequence

      Description
      NM_031398.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VEK2.1 GenPept UniProtKB/Swiss-Prot:Q8VEK2

    Gene LinkOut

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

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