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    DRAM2 DNA damage regulated autophagy modulator 2 [ Homo sapiens (human) ]

    Gene ID: 128338, updated on 13-Apr-2024

    Summary

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    Official Symbol
    DRAM2provided by HGNC
    Official Full Name
    DNA damage regulated autophagy modulator 2provided by HGNC
    Primary source
    HGNC:HGNC:28769
    See related
    Ensembl:ENSG00000156171 MIM:613360; AllianceGenome:HGNC:28769
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CORD21; PRO180; TMEM77; WWFQ154
    Summary
    The protein encoded by this gene binds microtubule-associated protein 1 light chain 3 and is required for autophagy. Defects in this gene are a cause of retinal dystrophy. In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can bind to the mRNA of this gene and produce the disease state. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in lymph node (RPKM 29.0), spleen (RPKM 26.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111117163..111140093, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111131977..111154907, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111659785..111682715, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cyclin T2 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 54 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:111644109-111645308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1482 Neighboring gene choline/ethanolamine phosphotransferase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:111729927-111731126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1484 Neighboring gene DENN domain containing 2D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1182 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:111756584-111757783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1491 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:111777146-111778345 Neighboring gene chitinase 3 like 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The Clinical Spectrum and Disease Course of DRAM2 Retinopathy. Krašovec T, et al. Int J Mol Sci, 2022 Jul 2. PMID 35806404, Free PMC Article
    2. Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy. Kuniyoshi K, et al. Int J Mol Sci, 2020 Feb 16. PMID 32079136, Free PMC Article
    3. Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations. Abad-Morales V, et al. Exp Eye Res, 2019 Oct. PMID 31394102
    4. MicroRNA-125b promotes tumor growth and suppresses apoptosis by targeting DRAM2 in retinoblastoma. Bai S, et al. Eye (Lond), 2016 Dec. PMID 27518550, Free PMC Article
    5. Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Sergouniotis PI, et al. Invest Ophthalmol Vis Sci, 2015 Dec. PMID 26720460

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.
      Title: The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.
    2. Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.
      Title: Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.
    3. Three novel homozygous mutations in the autophagy gene DRAM2 were identified as the molecular cause of disease in the three families: c.518-1G>A, c.628_629insAG and c.693+2T>A.
      Title: Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
    4. Mycobacterium tuberculosis significantly induces the expression of MIR144*/hsa-miR-144-5p, which targets the 3'-untranslated region of DRAM2.
      Title: MIR144* inhibits antimicrobial responses against Mycobacterium tuberculosis in human monocytes and macrophages by targeting the autophagy protein DRAM2.
    5. Genetic variants on chromosome 1p13.3 near the damage-regulated autophagy modulator 2 gene DRAM2 associated with Non-ST Elevation Myocardial Infarction (rs656843; odds ratio 1.57, P = 3.11 x 10(-10)) in the case-control analysis.
      Title: Genetic Variants on Chromosome 1p13.3 Are Associated with Non-ST Elevation Myocardial Infarction and the Expression of DRAM2 in the Finnish Population.
    6. Recessive variants in DRAM2, an autophagy regulator gene, have been recently identified as a cause of retinal dystrophy with early macular involvement
      Title: Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
    7. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
      Title: Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
    8. The expression of damage-regulated autophagy modulator 2 (DRAM2) contributes to autophagy induction.
      Title: The expression of damage-regulated autophagy modulator 2 (DRAM2) contributes to autophagy induction.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. reduced expression of DRAM2 may contribute to enhanced cell survival in tumor cells.
      Title: Reduced expression of DRAM2/TMEM77 in tumor cells interferes with cell death.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Retinal dystrophy with early macular involvement
    MedGen: C4049066 OMIM: 616502 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC54289, RP5-1180E21.1

    Gene Ontology Provided by GOA

    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
    		  
    involved_in photoreceptor cell maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor inner segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    DNA damage-regulated autophagy modulator protein 2
    Names
    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.

    Genomic

    1. NG_053089.1 RefSeqGene

      Range
      5124..28054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001349881.2 → NP_001336810.1  DNA damage-regulated autophagy modulator protein 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-5 all encode the same isoform (a).
      Source sequence(s)
      AL355816
      Consensus CDS
      CCDS30801.1
      UniProtKB/Swiss-Prot
      B3SUG9, Q4VWF6, Q6UX65, Q86VD3, Q8NBQ4
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    2. NM_001349882.2 → NP_001336811.1  DNA damage-regulated autophagy modulator protein 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 2, 4, and 5, encodes isoform a.
      Source sequence(s)
      AL355816
      Consensus CDS
      CCDS30801.1
      UniProtKB/Swiss-Prot
      B3SUG9, Q4VWF6, Q6UX65, Q86VD3, Q8NBQ4
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    3. NM_001349884.2 → NP_001336813.1  DNA damage-regulated autophagy modulator protein 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1-3 and 5, encodes isoform a.
      Source sequence(s)
      AL355816
      Consensus CDS
      CCDS30801.1
      UniProtKB/Swiss-Prot
      B3SUG9, Q4VWF6, Q6UX65, Q86VD3, Q8NBQ4
      Related
      ENSP00000503400.1, ENST00000484310.6
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    4. NM_001349885.2 → NP_001336814.1  DNA damage-regulated autophagy modulator protein 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1-4, encodes isoform a.
      Source sequence(s)
      AL355816
      Consensus CDS
      CCDS30801.1
      UniProtKB/Swiss-Prot
      B3SUG9, Q4VWF6, Q6UX65, Q86VD3, Q8NBQ4
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    5. NM_001349886.2 → NP_001336815.1  DNA damage-regulated autophagy modulator protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 7 and 8, encodes isoform b.
      Source sequence(s)
      AL355816
      Conserved Domains (1) summary
      pfam10277
      Location:25 → 143
      Frag1; Frag1/DRAM/Sfk1 family

    6. NM_001349887.2 → NP_001336816.1  DNA damage-regulated autophagy modulator protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 6 and 8, encodes isoform b.
      Source sequence(s)
      AL355816
      Conserved Domains (1) summary
      pfam10277
      Location:25 → 143
      Frag1; Frag1/DRAM/Sfk1 family

    7. NM_001349888.2 → NP_001336817.1  DNA damage-regulated autophagy modulator protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 6 and 7, encodes isoform b.
      Source sequence(s)
      AL355816
      Conserved Domains (1) summary
      pfam10277
      Location:25 → 143
      Frag1; Frag1/DRAM/Sfk1 family

    8. NM_001349889.2 → NP_001336818.1  DNA damage-regulated autophagy modulator protein 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 10-13, encodes isoform c.
      Source sequence(s)
      AL355816
      Conserved Domains (1) summary
      pfam10277
      Location:1 → 103
      Frag1; Frag1/DRAM/Sfk1 family

    9. NM_001349890.2 → NP_001336819.1  DNA damage-regulated autophagy modulator protein 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 9 and 11-13, encodes isoform c.
      Source sequence(s)
      AL355816
      Conserved Domains (1) summary
      pfam10277
      Location:1 → 103
      Frag1; Frag1/DRAM/Sfk1 family

    10. NM_001349891.2 → NP_001336820.1  DNA damage-regulated autophagy modulator protein 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 9, 10, 12, and 13, encodes isoform c.
      Source sequence(s)
      AL355816
      Conserved Domains (1) summary
      pfam10277
      Location:1 → 103
      Frag1; Frag1/DRAM/Sfk1 family

    11. NM_001349892.2 → NP_001336821.1  DNA damage-regulated autophagy modulator protein 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 9-11 and 13, encodes isoform c.
      Source sequence(s)
      AL355816
      Conserved Domains (1) summary
      pfam10277
      Location:1 → 103
      Frag1; Frag1/DRAM/Sfk1 family

    12. NM_001349893.2 → NP_001336822.1  DNA damage-regulated autophagy modulator protein 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 9-12, encodes isoform c.
      Source sequence(s)
      AL355816
      Conserved Domains (1) summary
      pfam10277
      Location:1 → 103
      Frag1; Frag1/DRAM/Sfk1 family

    13. NM_178454.6 → NP_848549.3  DNA damage-regulated autophagy modulator protein 2 isoform a

      See identical proteins and their annotated locations for NP_848549.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variants 1 and 3-5, encodes isoform a.
      Source sequence(s)
      AL355816, AY358492, DC339928
      Consensus CDS
      CCDS30801.1
      UniProtKB/Swiss-Prot
      B3SUG9, Q4VWF6, Q6UX65, Q86VD3, Q8NBQ4
      Related
      ENSP00000437718.1, ENST00000539140.6
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    RNA

    1. NR_146301.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL355816

    2. NR_146302.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL355816

    3. NR_146303.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL355816

    4. NR_146304.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL355816

    5. NR_146305.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL355816

    6. NR_146306.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL355816

    7. NR_146307.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL355816

    8. NR_146308.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL355816

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      111117163..111140093 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540708.2 → XP_011539010.1  DNA damage-regulated autophagy modulator protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011539010.1

      UniProtKB/Swiss-Prot
      B3SUG9, Q4VWF6, Q6UX65, Q86VD3, Q8NBQ4
      Conserved Domains (1) summary
      pfam10277
      Location:7 → 233
      Frag1; Frag1/DRAM/Sfk1 family

    2. XM_047446242.1 → XP_047302198.1  DNA damage-regulated autophagy modulator protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B3SUG9, Q4VWF6, Q6UX65, Q86VD3, Q8NBQ4
      Related
      ENSP00000286692.4, ENST00000286692.8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      111131977..111154907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334449.1 → XP_054190424.1  DNA damage-regulated autophagy modulator protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B3SUG9, Q4VWF6, Q6UX65, Q86VD3, Q8NBQ4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UX65.1 GenPept UniProtKB/Swiss-Prot:Q6UX65

    Gene LinkOut

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