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    Retreg2 reticulophagy regulator family member 2 [ Mus musculus (house mouse) ]

    Gene ID: 227298, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Retreg2provided by MGI
    Official Full Name
    reticulophagy regulator family member 2provided by MGI
    Primary source
    MGI:MGI:2388278
    See related
    Ensembl:ENSMUSG00000049339 AllianceGenome:MGI:2388278
    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
    Fam134a
    Summary
    Enables endoplasmic reticulum-autophagosome adaptor activity. Acts upstream of or within collagen catabolic process; endoplasmic reticulum organization; and reticulophagy. Located in endoplasmic reticulum. Is expressed in several structures, including genitourinary system; gut; musculoskeletal system; nervous system; and sensory organ. Orthologous to human RETREG2 (reticulophagy regulator family member 2). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in liver adult (RPKM 100.8), kidney adult (RPKM 81.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Retreg2 in Genome Data Viewer
    Location:
    1 C4; 1 38.61 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (75119432..75124553)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (75142786..75147909)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_01352 Neighboring gene solute carrier family 23 (nucleobase transporters), member 3 Neighboring gene cyclin Pas1/PHO80 domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E1550 Neighboring gene zinc finger, AN1 type domain 2B Neighboring gene ATP-binding cassette, sub-family B member 6 Neighboring gene STARR-positive B cell enhancer ABC_E8982

    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. Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo. Iavarone F, et al. EMBO Rep, 2024 Aug. PMID 39039299, Free PMC Article
    2. Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER-phagy, and Collagen quality control. Reggio A, et al. EMBO Rep, 2021 Sep 6. PMID 34338405, Free PMC Article
    3. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Kurth I, et al. Nat Genet, 2009 Nov. PMID 19838196
    4. Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Will AJ, et al. Nat Genet, 2017 Oct. PMID 28846100, Free PMC Article
    5. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC47289

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables endoplasmic reticulum-autophagosome adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within collagen catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within reticulophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within reticulophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    reticulophagy regulator 2
    Names
    family with sequence similarity 134, member A
    protein FAM134A

    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_001305231.2 → NP_001292160.1  reticulophagy regulator 2 isoform 2

      See identical proteins and their annotated locations for NP_001292160.1

      Status: VALIDATED

      Source sequence(s)
      AC173548
      Consensus CDS
      CCDS78621.1
      UniProtKB/TrEMBL
      A0A087WPR9
      Related
      ENSMUSP00000139410.2, ENSMUST00000190240.7

    2. NM_001305232.2 → NP_001292161.1  reticulophagy regulator 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC173548
      UniProtKB/Swiss-Prot
      Q6NS82
      Conserved Domains (1) summary
      cl41772
      Location:1 → 42
      Arl6IP1_RETR3-like; ADP-ribosylation factor-like protein 6-interacting protein 1, Reticulophagy regulator 3, and similar proteins

    3. NM_001421454.1 → NP_001408383.1  reticulophagy regulator 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC173548

    4. NM_001421455.1 → NP_001408384.1  reticulophagy regulator 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC173548

    5. NM_001421456.1 → NP_001408385.1  reticulophagy regulator 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC173548

    6. NM_001421457.1 → NP_001408386.1  reticulophagy regulator 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC173548

    7. NM_001421458.1 → NP_001408387.1  reticulophagy regulator 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC173548

    8. NM_001421459.1 → NP_001408388.1  reticulophagy regulator 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC173548

    9. NM_001421460.1 → NP_001408389.1  reticulophagy regulator 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC173548

    10. NM_001421461.1 → NP_001408390.1  reticulophagy regulator 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC173548

    11. NM_001421463.1 → NP_001408392.1  reticulophagy regulator 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC173548

    12. NM_001421464.1 → NP_001408393.1  reticulophagy regulator 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC173548

    13. NM_001421465.1 → NP_001408394.1  reticulophagy regulator 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC173548

    14. NM_001421466.1 → NP_001408395.1  reticulophagy regulator 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC173548

    15. NM_001421467.1 → NP_001408396.1  reticulophagy regulator 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC173548

    16. NM_001421468.1 → NP_001408397.1  reticulophagy regulator 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC173548

    17. NM_001421469.1 → NP_001408398.1  reticulophagy regulator 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC173548

    18. NM_170755.3 → NP_739561.2  reticulophagy regulator 2 isoform 1

      See identical proteins and their annotated locations for NP_739561.2

      Status: VALIDATED

      Source sequence(s)
      AC173548
      Consensus CDS
      CCDS35621.1
      UniProtKB/Swiss-Prot
      Q3TA48, Q3TMF7, Q6NS82, Q8BSD3, Q8CHY1, Q8R0Q3
      UniProtKB/TrEMBL
      A0A087WPR9
      Related
      ENSMUSP00000095300.5, ENSMUST00000097694.11

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      75119432..75124553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NS82.2 GenPept UniProtKB/Swiss-Prot:Q6NS82

    Gene LinkOut

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

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