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

Gene ID: 67171, updated on 2-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 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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