ENSG00000156171


Homo sapiens

Features
Gene ID: ENSG00000156171
  
Biological name :DRAM2
  
Synonyms : DNA damage regulated autophagy modulator 2 / DRAM2 / Q6UX65
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p13.3
Gene start: 111117333
Gene end: 111140216
  
Corresponding Affymetrix probe sets: 225228_at (Human Genome U133 Plus 2.0 Array)   225230_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473779
Ensembl peptide - ENSP00000286692
Ensembl peptide - ENSP00000437718
NCBI entrez gene - 128338     See in Manteia.
OMIM - 613360
RefSeq - XM_017000321
RefSeq - NM_001349885
RefSeq - NM_178454
RefSeq - XM_005270469
RefSeq - XM_005270470
RefSeq - XM_006710361
RefSeq - XM_006710362
RefSeq - XM_011540707
RefSeq - XM_011540708
RefSeq - XM_017000320
RefSeq Peptide - NP_848549
RefSeq Peptide - NP_001336810
RefSeq Peptide - NP_001336811
RefSeq Peptide - NP_001336813
RefSeq Peptide - NP_001336814
swissprot - S4R2Z2
swissprot - Q6UX65
swissprot - A0A024R0B7
Ensembl - ENSG00000156171
  
Related genetic diseases (OMIM): 616502 - Cone-rod dystrophy 21, 616502
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dram2aENSDARG00000043569Danio rerio
 dram2bENSDARG00000044241Danio rerio
 DRAM2ENSGALG00000036491Gallus gallus
 Dram2ENSMUSG00000027900Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DRAM1 / Q8N682 / DNA damage regulated autophagy modulator 1ENSG0000013604836


Protein motifs (from Interpro)
Interpro ID Name
 IPR019402  Frag1/DRAM/Sfk1
 IPR032990  DNA damage-regulated autophagy modulator protein 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007601 visual perception IMP
 biological_processGO:0010506 regulation of autophagy IDA
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 cellular_componentGO:0001917 photoreceptor inner segment ISS
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane ISS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000551 Abnormal color vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007401 Primary noninflammatory macular atrophy 
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 HP:0007663 Decreased central vision 
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 HP:0007703 Abnormal retinal pigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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