DRAM2 gene

DNA damage regulated autophagy modulator 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Plays a role in the initiation of autophagy. In the retina, might be involved in the process of photoreceptor cells renewal and recycling to preserve visual function. Induces apoptotic cell death when coexpressed with DRAM1.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cone-rod dystrophy 21

From UniProt:

Cone-rod dystrophy 21 (CORD21): A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. [MIM:616502]

Cytogenetic Location: 1p13.3, which is the short (p) arm of chromosome 1 at position 13.3

Molecular Location: base pairs 111,117,170 to 111,140,216 on chromosome 1 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 1p13.3, which is the short (p) arm of chromosome 1 at position 13.3
  • CORD21
  • PRO180
  • TMEM77
  • WWFQ154