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

Gene ID: 128338, updated on 20-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
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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

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
Cone-rod dystrophy 21
MedGen: C4049066 OMIM: 616502 GeneReviews: Not available
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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

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