DRAM2 - DNA damage regulated autophagy modulator 2 Gene

Also Known as CORD21; PRO180; TMEM77; WWFQ154

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 128338

About DRAM2

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:111,117,163-111,140,093 (from NCBI)

This gene has 10 transcripts (splice variants), 224 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 29.0), spleen (RPKM 26.6) and 25 other tissues.

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]

DRAM2 Products (13)

mRNA Protein Name
NM_001349881.2 NP_001336810.1 DNA damage-regulated autophagy modulator protein 2 isoform a
NM_001349882.2 NP_001336811.1 DNA damage-regulated autophagy modulator protein 2 isoform a
NM_001349884.2 NP_001336813.1 DNA damage-regulated autophagy modulator protein 2 isoform a
NM_001349885.2 NP_001336814.1 DNA damage-regulated autophagy modulator protein 2 isoform a
NM_001349886.2 NP_001336815.1 DNA damage-regulated autophagy modulator protein 2 isoform b
NM_001349887.2 NP_001336816.1 DNA damage-regulated autophagy modulator protein 2 isoform b
NM_001349888.2 NP_001336817.1 DNA damage-regulated autophagy modulator protein 2 isoform b
NM_001349889.2 NP_001336818.1 DNA damage-regulated autophagy modulator protein 2 isoform c
NM_001349890.2 NP_001336819.1 DNA damage-regulated autophagy modulator protein 2 isoform c
NM_001349891.2 NP_001336820.1 DNA damage-regulated autophagy modulator protein 2 isoform c
NM_001349892.2 NP_001336821.1 DNA damage-regulated autophagy modulator protein 2 isoform c
NM_001349893.2 NP_001336822.1 DNA damage-regulated autophagy modulator protein 2 isoform c
NM_178454.6 NP_848549.3 DNA damage-regulated autophagy modulator protein 2 isoform a
Biological Process GO Annotation Evidence References Source
involved in photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
25983245 GOA
involved in regulation of autophagy IDA
IDA: Inferred from direct assay
19895784 GOA
involved in visual perception IMP
IMP: Inferred from mutant phenotype
25983245 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
19895784 GOA
located in lysosome IDA
IDA: Inferred from direct assay
19556885 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DRAM2 Protein Structure

Frag1

Frag1: Frag1/DRAM/Sfk1 family (8 - 233)

  • 0
  • 100
  • 200
  • 266 a.a.
Protein Preferred Names Protein Names

DNA damage-regulated autophagy modulator protein 2

  • damage regulated autophagy modulator 2

Related Diseases

Diseases Alias
Cone-Rod Dystrophy 21
  • CORD21

  • Retinal Dystrophy With Early Macular Involvement

  • Dystrophy, Cone-Rod, Type 21

Cone-Rod Dystrophy 16
  • Retinitis Pigmentosa 64

  • Retinal Dystrophy With Early Macular Involvement

  • CORD16

  • RP64

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus DRAM2 VGNC VGNC:61620
Mus musculus DRAM2 MGD MGI:1914421
Canis familiaris DRAM2 VGNC VGNC:40089
Macaca mulatta DRAM2 VGNC VGNC:71916
Rattus norvegicus DRAM2 RGD RGD:1564099
Bos taurus DRAM2 VGNC VGNC:28202
Others DRAM2 NCBI