Entity Details

Primary name DRAM2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6UX65
EntryNameDRAM2_HUMAN
FullNameDNA damage-regulated autophagy modulator protein 2
TaxID9606
Evidenceevidence at protein level
Length266
SequenceStatuscomplete
DateCreated2006-10-31
DateModified2021-06-02

Ontological Relatives

GenesDRAM2

GO terms

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GOName
GO:0001917 photoreceptor inner segment
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0006914 autophagy
GO:0006915 apoptotic process
GO:0007601 visual perception
GO:0010506 regulation of autophagy
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0045494 photoreceptor cell maintenance

Subcellular Location

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Subcellular Location
Apical cell membrane
Lysosome membrane
Photoreceptor inner segment

Domains

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DomainNameCategoryType
IPR019402 Frag1/DRAM/Sfk1FamilyFamily
IPR032990 DNA damage-regulated autophagy modulator protein 2FamilyFamily

Diseases

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Disease IDSourceNameDescription
616502 OMIMCone-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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

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