Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	128338
Gene name	DNA damage regulated autophagy modulator 2
Gene symbol	DRAM2
Synonyms (NCBI Gene)	CORD21PRO180TMEM77WWFQ154
Chromosome	1
Chromosome location	1p13.3
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

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201422368	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs746559651	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs786205661	CAG>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant, 5 prime UTR variant
rs786205662	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786205663	CGAACATAA>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant, 5 prime UTR variant, non coding transcript variant
rs786205664	T>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786205665	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1057516195	C>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant

Show/Hide all (60)

miRTarBase ID	miRNA	Experiments	Reference
MIRT626568	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT626567	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT735377	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	27518550
MIRT735377	hsa-miR-125b-5p	Luciferase reporter assayWestern blottingqRT-PCRELISA	33121314
MIRT626568	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT626567	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT945256	hsa-miR-1179	CLIP-seq
MIRT945257	hsa-miR-1200	CLIP-seq
MIRT945258	hsa-miR-125a-5p	CLIP-seq
MIRT945259	hsa-miR-125b	CLIP-seq
MIRT945260	hsa-miR-1273g	CLIP-seq
MIRT945261	hsa-miR-140-5p	CLIP-seq
MIRT945262	hsa-miR-2355-5p	CLIP-seq
MIRT945263	hsa-miR-3074-5p	CLIP-seq
MIRT945264	hsa-miR-3163	CLIP-seq
MIRT945265	hsa-miR-3182	CLIP-seq
MIRT945266	hsa-miR-361-5p	CLIP-seq
MIRT945267	hsa-miR-3679-3p	CLIP-seq
MIRT945268	hsa-miR-3920	CLIP-seq
MIRT945269	hsa-miR-3938	CLIP-seq
MIRT945270	hsa-miR-4251	CLIP-seq
MIRT945271	hsa-miR-4302	CLIP-seq
MIRT945272	hsa-miR-4310	CLIP-seq
MIRT945273	hsa-miR-4319	CLIP-seq
MIRT945274	hsa-miR-4324	CLIP-seq
MIRT945275	hsa-miR-4477a	CLIP-seq
MIRT945276	hsa-miR-4666-5p	CLIP-seq
MIRT945277	hsa-miR-4677-3p	CLIP-seq
MIRT945278	hsa-miR-4679	CLIP-seq
MIRT945279	hsa-miR-4686	CLIP-seq
MIRT945280	hsa-miR-4693-5p	CLIP-seq
MIRT945281	hsa-miR-4732-3p	CLIP-seq
MIRT945282	hsa-miR-4753-3p	CLIP-seq
MIRT945283	hsa-miR-4768-5p	CLIP-seq
MIRT945284	hsa-miR-509-3p	CLIP-seq
MIRT945285	hsa-miR-513c	CLIP-seq
MIRT945286	hsa-miR-514b-5p	CLIP-seq
MIRT945287	hsa-miR-548ag	CLIP-seq
MIRT945288	hsa-miR-548ai	CLIP-seq
MIRT945289	hsa-miR-563	CLIP-seq
MIRT945290	hsa-miR-580	CLIP-seq
MIRT945291	hsa-miR-670	CLIP-seq
MIRT945292	hsa-miR-891b	CLIP-seq
MIRT945258	hsa-miR-125a-5p	CLIP-seq
MIRT945259	hsa-miR-125b	CLIP-seq
MIRT945262	hsa-miR-2355-5p	CLIP-seq
MIRT945267	hsa-miR-3679-3p	CLIP-seq
MIRT945270	hsa-miR-4251	CLIP-seq
MIRT945273	hsa-miR-4319	CLIP-seq
MIRT945274	hsa-miR-4324	CLIP-seq
MIRT945281	hsa-miR-4732-3p	CLIP-seq
MIRT945290	hsa-miR-580	CLIP-seq
MIRT945291	hsa-miR-670	CLIP-seq
MIRT945269	hsa-miR-3938	CLIP-seq
MIRT945269	hsa-miR-3938	CLIP-seq
MIRT945285	hsa-miR-513c	CLIP-seq
MIRT945286	hsa-miR-514b-5p	CLIP-seq
MIRT945269	hsa-miR-3938	CLIP-seq
MIRT945285	hsa-miR-513c	CLIP-seq
MIRT945286	hsa-miR-514b-5p	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005737	Component	Cytoplasm	IDA	19895784
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	19556885, 19895784
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007601	Process	Visual perception	IMP	25983245
GO:0008283	Process	Cell population proliferation	IEA
GO:0010506	Process	Regulation of autophagy	IBA
GO:0010506	Process	Regulation of autophagy	IDA	19895784
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IBA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	25983245
GO:0060041	Process	Retina development in camera-type eye	IEA

MIM	HGNC	e!Ensembl
613360	28769	ENSG00000156171

Q6UX65

Protein name

DNA damage-regulated autophagy modulator protein 2 (Transmembrane protein 77)

Protein function

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. {ECO:0000269|PubMed:

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10277	Frag1	7 → 233	Frag1/DRAM/Sfk1 family	Family

Tissue specificity

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:0000269|PubMed:19556885, ECO:0000269|PubMed:1

Sequence

MWWFQQGLSFLPSALVIWTSAAFIFSYITAVTLHHIDPALPYISDTGTVAPEKCLFGAML
NIAAVLCIATIYVRYKQVHALSPEENVIIKLNKAGLVLGILSCLGLSIVANFQKTTLFAA
HVSGAVLTFGMGSLYMFVQTILSYQMQPKIHGKQVFWIRLLLVIWCGVSALSMLTCSSVL
HSGNFGTDLEQKLHWNPEDKGYVLHMITTAAEWSMSFSFFGFFLTYIRDFQKISLRVEAN
LHGLTLYDTAPCPINNERTRLLSRDI

Sequence length

266

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone-rod dystrophy 21	Likely pathogenic; Pathogenic	rs2101085885, rs2101086076, rs201422368, rs786205664, rs746559651, rs786205665, rs786205661, rs746500019, rs1057516195	RCV001728030 RCV001783143 RCV000186602 RCV000186605 RCV000186601 RCV000186603 RCV000186604 RCV005362971 RCV000408797
Retinal dystrophy	Pathogenic; Likely pathogenic	rs201422368, rs786205664, rs786205663, rs746559651, rs786205665, rs786205662, rs786205661, rs1292874452	RCV000172838 RCV000172836 RCV000172835 RCV000172832 RCV000172837 RCV000172834 RCV000172833 RCV001074769

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cone-rod dystrophy	Conflicting classifications of pathogenicity	rs1178103200	RCV003324585
DRAM2-related disorder	Likely benign	rs377326704, rs1279240537, rs200754810, rs2524658847	RCV004758877 RCV003969320 RCV003962080 RCV003964266

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Non Small Cell Lung	Stimulate	30755245
Cone Rod Dystrophies	Associate	29555955, 32079136
Hypertensive Retinopathy	Associate	26720460, 32079136
Inflammation	Associate	33121314
Lymphatic Metastasis	Stimulate	30755245
Macular Degeneration	Associate	26720460, 35806404
Neoplasm Metastasis	Stimulate	30755245
Nerve Degeneration	Associate	26720460
Night Blindness	Associate	32079136
Non ST Elevated Myocardial Infarction	Associate	26509668
Retinal Degeneration	Associate	32079136
Retinal Diseases	Associate	26720460
Retinal Dystrophies	Associate	25983245, 26720460, 32079136, 35806404
Retinoblastoma	Associate	27518550
Stomach Neoplasms	Associate	33100093
Vision Disorders	Associate	26720460
Vision Low	Associate	32079136

DRAM2 (DNA damage regulated autophagy modulator 2)