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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs201422368, rs786205664, rs786205663, rs746559651, rs786205665, rs786205662, rs786205661, rs1292874452	RCV000172838 RCV000172836 RCV000172835 RCV000172832 RCV000172837 RCV000172834 RCV000172833 RCV001074769 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DRAM2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	25126724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28052027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	25983245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	26720460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28052027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30755245	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	26720460, 35806404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28052027, 30755245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30755245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22935150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	32079136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26720460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	26720460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	26720460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal dystrophy with early macular involvement	Retinal Dystrophy With Early Macular Involvement	BEFREE	25983245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal dystrophy with early macular involvement	Retinal Dystrophy With Early Macular Involvement	UNIPROT_DG	25983245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal dystrophy with early macular involvement	Retinal Dystrophy With Early Macular Involvement	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal dystrophy with early macular involvement	Retinal Dystrophy With Early Macular Involvement	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	27518550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	27518550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33100093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26720460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DRAM2 (DNA damage regulated autophagy modulator 2)