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

Gene ID: 227298, updated on 27-Nov-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, Nov 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
  • 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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