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    Dram2 DNA-damage regulated autophagy modulator 2 [ Mus musculus (house mouse) ]

    Gene ID: 67171, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Dram2provided by MGI
    Official Full Name
    DNA-damage regulated autophagy modulator 2provided by MGI
    Primary source
    MGI:MGI:1914421
    See related
    Ensembl:ENSMUSG00000027900 AllianceGenome:MGI:1914421
    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
    Tmem77; 2010305N14Rik; 2610318G18Rik
    Summary
    Involved in photoreceptor cell maintenance. Acts upstream of or within cell population proliferation; phloem or xylem histogenesis; and retina development in camera-type eye. Located in apical plasma membrane and photoreceptor inner segment. Is expressed in several structures, including alimentary system; eye; genitourinary system; hemolymphoid system gland; and nervous system. Used to study cone-rod dystrophy. Human ortholog(s) of this gene implicated in cone-rod dystrophy 21. Orthologous to human DRAM2 (DNA damage regulated autophagy modulator 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 19.9), kidney adult (RPKM 15.2) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dram2 in Genome Data Viewer
    Location:
    3 F2.3; 3 46.5 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (106455114..106482657)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (106547798..106575341)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene chitinase-like 6 Neighboring gene STARR-seq mESC enhancer starr_08648 Neighboring gene STARR-positive B cell enhancer ABC_E6101 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:106252568-106252751 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:106264918-106265101 Neighboring gene RIKEN cDNA 2010016I18 gene Neighboring gene STARR-seq mESC enhancer starr_08649 Neighboring gene DENN domain containing 2D Neighboring gene choline/ethanolaminephosphotransferase 1 Neighboring gene STARR-seq mESC enhancer starr_08650 Neighboring gene STARR-positive B cell enhancer ABC_E6102 Neighboring gene STARR-seq mESC enhancer starr_08651 Neighboring gene STARR-seq mESC enhancer starr_08652 Neighboring gene STARR-seq mESC enhancer starr_08653 Neighboring gene ligand dependent nuclear receptor interacting factor 1 Neighboring gene STARR-positive B cell enhancer ABC_E10205 Neighboring gene CD53 antigen

    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. Integration of human stem cell-derived in vitro systems and mouse preclinical models identifies complex pathophysiologic mechanisms in retinal dystrophy. Jones MK, et al. Front Cell Dev Biol, 2023. PMID 37691820, Free PMC Article
    2. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. El-Asrag ME, et al. Am J Hum Genet, 2015 Jun 4. PMID 25983245, Free PMC Article
    3. Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns. Olthof AM, et al. Nucleic Acids Res, 2021 Apr 6. PMID 33660780, Free PMC Article
    4. A mouse knockout library for secreted and transmembrane proteins. Tang T, et al. Nat Biotechnol, 2010 Jul. PMID 20562862
    5. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article

    See all (21) 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)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within phloem or xylem histogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in photoreceptor cell maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in photoreceptor cell maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in visual perception ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA damage-regulated autophagy modulator protein 2
    Names
    VDNA-damage regulated autophagy modulator 2
    transmembrane protein 77

    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_001025582.3 → NP_001020753.1  DNA damage-regulated autophagy modulator protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001020753.1

      Status: VALIDATED

      Source sequence(s)
      AC117200
      Consensus CDS
      CCDS17724.1
      UniProtKB/TrEMBL
      Q9D835
      Related
      ENSMUSP00000029507.7, ENSMUST00000029507.13
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 113
      Frag1; Frag1/DRAM/Sfk1 family

    2. NM_001286986.2 → NP_001273915.1  DNA damage-regulated autophagy modulator protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001273915.1

      Status: VALIDATED

      Source sequence(s)
      AC117200
      Consensus CDS
      CCDS17725.1
      UniProtKB/Swiss-Prot
      Q9CR48, Q9D520
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    3. NM_001286987.2 → NP_001273916.1  DNA damage-regulated autophagy modulator protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001273916.1

      Status: VALIDATED

      Source sequence(s)
      AC117200
      Consensus CDS
      CCDS17725.1
      UniProtKB/Swiss-Prot
      Q9CR48, Q9D520
      Related
      ENSMUSP00000112680.2, ENSMUST00000121034.8
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    4. NM_001428953.1 → NP_001415882.1  DNA damage-regulated autophagy modulator protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC117200
      UniProtKB/TrEMBL
      Q9D835

    5. NM_001428954.1 → NP_001415883.1  DNA damage-regulated autophagy modulator protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC117200

    6. NM_026013.4 → NP_080289.1  DNA damage-regulated autophagy modulator protein 2 isoform 2

      See identical proteins and their annotated locations for NP_080289.1

      Status: VALIDATED

      Source sequence(s)
      AC117200
      Consensus CDS
      CCDS17725.1
      UniProtKB/Swiss-Prot
      Q9CR48, Q9D520
      Related
      ENSMUSP00000063510.7, ENSMUST00000067630.13
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    RNA

    1. NR_190544.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC117200

    2. NR_190545.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC117200

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      106455114..106482657
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163241.1 → XP_036019134.1  DNA damage-regulated autophagy modulator protein 2 isoform X1

      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    2. XM_006501929.5 → XP_006501992.1  DNA damage-regulated autophagy modulator protein 2 isoform X3

      See identical proteins and their annotated locations for XP_006501992.1

      UniProtKB/TrEMBL
      Q9D835
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 113
      Frag1; Frag1/DRAM/Sfk1 family

    3. XM_006501928.1 → XP_006501991.1  DNA damage-regulated autophagy modulator protein 2 isoform X2

      Conserved Domains (1) summary
      pfam10277
      Location:1 → 175
      Frag1; Frag1/DRAM/Sfk1 family

    4. XM_036163242.1 → XP_036019135.1  DNA damage-regulated autophagy modulator protein 2 isoform X1

      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    5. XM_030252770.2 → XP_030108630.1  DNA damage-regulated autophagy modulator protein 2 isoform X3

      Conserved Domains (1) summary
      pfam10277
      Location:7 → 113
      Frag1; Frag1/DRAM/Sfk1 family

    6. XM_036163243.1 → XP_036019136.1  DNA damage-regulated autophagy modulator protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9CR48, Q9D520
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CR48.1 GenPept UniProtKB/Swiss-Prot:Q9CR48

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