• Gene id: 128338

Gene Summary

• Gene Symbol: DRAM2   Gene   UCSC   Ensembl
• Aliases: CORD21, PRO180, TMEM77, WWFQ154
• Gene name: DNA damage regulated autophagy modulator 2
• Alternate names: DNA damage-regulated autophagy modulator protein 2, damage regulated autophagy modulator 2, transmembrane protein 77,
• Gene location: 1p13.3 (111140215: 111117169)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 137028

Protein Summary

• Protein general information: Q6UX65  
  • Name: DNA damage regulated autophagy modulator protein 2 (Transmembrane protein 77)
  • Length: 266  
  • Mass: 29766
  • Tissue specificity: Expression is down-regulated in ovarian tumors (at protein level). Widely expressed with highest levels in placenta and heart. Expressed in the retina. Not detected in brain or thymus. {ECO
• Sequence:

  MWWFQQGLSFLPSALVIWTSAAFIFSYITAVTLHHIDPALPYISDTGTVAPEKCLFGAMLNIAAVLCIATIYVRY
  KQVHALSPEENVIIKLNKAGLVLGILSCLGLSIVANFQKTTLFAAHVSGAVLTFGMGSLYMFVQTILSYQMQPKI
  HGKQVFWIRLLLVIWCGVSALSMLTCSSVLHSGNFGTDLEQKLHWNPEDKGYVLHMITTAAEWSMSFSFFGFFLT
  YIRDFQKISLRVEANLHGLTLYDTAPCPINNERTRLLSRDI

• Structural information:
  • Interpro: IPR032990  IPR019402  
  • STRING: ENSP00000286692
• Other Databases: GeneCards:  DRAM2  Malacards:  DRAM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IBA	cellular component
GO:0010506	regulation of autophagy	IBA	biological process
GO:0007601	visual perception	IMP	biological process
GO:0045494	photoreceptor cell maintenance	IMP	biological process
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0010506	regulation of autophagy	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0010506	regulation of autophagy	IDA	biological process

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)