DRAM2 Gene (Protein Coding)

DNA Damage Regulated Autophagy Modulator 2

GC01M111117
GIFtS:
39
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 of this gene and produce the disease state. [provided by RefSeq, Mar 2017] See more...

Aliases for DRAM2 Gene

Aliases for DRAM2 Gene

  • DNA Damage Regulated Autophagy Modulator 2 2 3 5
  • Transmembrane Protein 77 2 3 4
  • DNA Damage-Regulated Autophagy Modulator Protein 2 3 4
  • TMEM77 3 4
  • DNA-Damage Regulated Autophagy Modulator 2 2
  • Damage Regulated Autophagy Modulator 2 3
  • WWFQ154 3
  • CORD21 3
  • PRO180 3

External Ids for DRAM2 Gene

Previous HGNC Symbols for DRAM2 Gene

  • TMEM77

Previous GeneCards Identifiers for DRAM2 Gene

  • GC01M111461
  • GC01M111659
  • GC01M109531

Summaries for DRAM2 Gene

Entrez Gene Summary for DRAM2 Gene

  • 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 of this gene and produce the disease state. [provided by RefSeq, Mar 2017]

GeneCards Summary for DRAM2 Gene

DRAM2 (DNA Damage Regulated Autophagy Modulator 2) is a Protein Coding gene. Diseases associated with DRAM2 include Cone-Rod Dystrophy 21 and Inherited Retinal Disorder. An important paralog of this gene is DRAM1.

UniProtKB/Swiss-Prot Summary for DRAM2 Gene

  • 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.

Additional gene information for DRAM2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DRAM2 Gene

Genomics for DRAM2 Gene

GeneHancer (GH) Regulatory Elements for DRAM2 Gene

Promoters and enhancers for DRAM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DRAM2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DRAM2 Gene

Genomic Locations for DRAM2 Gene
chr1:111,117,332-111,140,216
(GRCh38/hg38)
Size:
22,885 bases
Orientation:
Minus strand
chr1:111,659,954-111,682,838
(GRCh37/hg19)
Size:
22,885 bases
Orientation:
Minus strand

Genomic View for DRAM2 Gene

Genes around DRAM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DRAM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DRAM2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DRAM2 Gene

Proteins for DRAM2 Gene

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  • Protein details for DRAM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UX65-DRAM2_HUMAN
    Recommended name:
    DNA damage-regulated autophagy modulator protein 2
    Protein Accession:
    Q6UX65
    Secondary Accessions:
    • B3SUG9
    • Q4VWF6
    • Q86VD3
    • Q8NBQ4

    Protein attributes for DRAM2 Gene

    Size:
    266 amino acids
    Molecular mass:
    29766 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11562.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DRAM2 Gene

Protein Expression for DRAM2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DRAM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DRAM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DRAM2 Gene

Domains & Families for DRAM2 Gene

Gene Families for DRAM2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for DRAM2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DRAM2 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 77 (DRAM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UX65

UniProtKB/Swiss-Prot:

DRAM2_HUMAN :
  • Belongs to the DRAM/TMEM150 family.
Family:
  • Belongs to the DRAM/TMEM150 family.
genes like me logo Genes that share domains with DRAM2: view

Function for DRAM2 Gene

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Molecular function for DRAM2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Not induced by p53/TP53 or TP73/p73.

Phenotypes From GWAS Catalog for DRAM2 Gene

genes like me logo Genes that share phenotypes with DRAM2: view

Human Phenotype Ontology for DRAM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DRAM2 Gene

MGI Knock Outs for DRAM2:
  • Dram2 Dram2<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for DRAM2

CRISPR Products

miRNA for DRAM2 Gene

miRTarBase miRNAs that target DRAM2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRAM2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DRAM2 Gene

Localization for DRAM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DRAM2 Gene

Lysosome membrane; Multi-pass membrane protein. Photoreceptor inner segment. Apical cell membrane. Note=Localized to photoreceptor inner segments and to the apical surface of retinal pigment epithelial cells. {ECO:0000250 UniProtKB:Q9CR48}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DRAM2 gene
Compartment Confidence
plasma membrane 5
lysosome 5
golgi apparatus 4
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DRAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment ISS --
GO:0005737 cytoplasm IDA 19895784
GO:0005764 lysosome IDA,IBA 19556885
GO:0005765 lysosomal membrane IEA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with DRAM2: view

Pathways & Interactions for DRAM2 Gene

PathCards logo

SuperPathways for DRAM2 Gene

No Data Available

Interacting Proteins for DRAM2 Gene

STRING Interaction Network Preview (showing top 3 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000286692 Q6UX65-DRAM2_HUMAN for DRAM2 Gene via STRING IID

GPS-Prot Interaction Network for DRAM2

SIGNOR curated interactions for DRAM2 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DRAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0006915 apoptotic process IEA --
GO:0007601 visual perception IMP 25983245
GO:0010506 regulation of autophagy IDA 19895784
GO:0045494 photoreceptor cell maintenance IMP 25983245
genes like me logo Genes that share ontologies with DRAM2: view

No data available for Pathways by source for DRAM2 Gene

Drugs & Compounds for DRAM2 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for DRAM2 Gene

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mRNA/cDNA for DRAM2 Gene

(13) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(257) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRAM2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DRAM2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - -
SP9: - - -
SP10: - -
SP11: -
SP12: - -
SP13:

Relevant External Links for DRAM2 Gene

GeneLoc Exon Structure for
DRAM2
ECgene alternative splicing isoforms for
DRAM2

Expression for DRAM2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DRAM2 Gene

mRNA expression in normal human tissues for DRAM2 Gene
mRNA expression by GTEx for DRAM2 GenemRNA expression by BioGPS for DRAM2 Gene

Protein differential expression in normal tissues from HIPED for DRAM2 Gene

This gene is overexpressed in Lung (26.5), Islet of Langerhans (17.6), and Blymphocyte (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DRAM2 Gene



Protein tissue co-expression partners for DRAM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DRAM2 Gene:

DRAM2

SOURCE GeneReport for Unigene cluster for DRAM2 Gene:

Hs.485606

mRNA Expression by UniProt/SwissProt for DRAM2 Gene:

Q6UX65-DRAM2_HUMAN
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.

Evidence on tissue expression from TISSUES for DRAM2 Gene

  • Nervous system(4.7)
  • Eye(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DRAM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with DRAM2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DRAM2 Gene

Orthologs for DRAM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DRAM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia DRAM2 33 32
  • 100 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia DRAM2 33 32
  • 92.61 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia DRAM2 33 32
  • 91.85 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Dram2 17 33 32
  • 88.43 (n)
rat
(Rattus norvegicus)
 Mammalia Dram2 32
  • 87.92 (n)
oppossum
(Monodelphis domestica)
 Mammalia DRAM2 33
  • 86 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DRAM2 33
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DRAM2 32
  • 66.17 (n)
lizard
(Anolis carolinensis)
 Reptilia DRAM2 33
  • 62 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii dram2b 33 32
  • 57.3 (n)
 OneToMany
dram2a 33
  • 48 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG4025 33
  • 31 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea C33A11.2 33 32
  • 42.81 (n)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.2907 33
  • 44 (a)
 OneToOne
Species where no ortholog for DRAM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DRAM2 Gene

ENSEMBL:
Gene Tree for DRAM2 (if available)
TreeFam:
Gene Tree for DRAM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DRAM2: view image

Paralogs for DRAM2 Gene

Paralogs for DRAM2 Gene

(2) SIMAP similar genes for DRAM2 Gene using alignment to 2 proteins:

  • DRAM2_HUMAN
  • S4R2Z2_HUMAN
genes like me logo Genes that share paralogs with DRAM2: view

Variants for DRAM2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for DRAM2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057516195 likely-pathogenic, Cone-rod dystrophy 21 111,119,909(-) C/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs201422368 pathogenic, Retinal dystrophy, Cone-rod dystrophy 21 111,120,539(-) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs746559651 pathogenic, Retinal dystrophy, Cone-rod dystrophy 21 111,126,286(-) CC/C 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs786205661 pathogenic, Retinal dystrophy, Cone-rod dystrophy 21 111,131,489(-) AGCAGCAG/AGCAG 5_prime_UTR_variant, coding_sequence_variant, inframe_deletion, non_coding_transcript_variant
rs786205662 pathogenic, Retinal dystrophy, Cone-rod dystrophy 21 (CORD21) [MIM:616502] 111,131,476(-) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DRAM2 Gene

Variant ID Type Subtype PubMed ID
nsv10639 CNV gain 18304495

Variation tolerance for DRAM2 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DRAM2 Gene

Human Gene Mutation Database (HGMD)
DRAM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DRAM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DRAM2 Gene

Disorders for DRAM2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DRAM2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 21
  • retinal dystrophy with early macular involvement
inherited retinal disorder
  • retinal dystrophy
fundus dystrophy
  • retinal dystrophy
cone-rod dystrophy 2
  • cord2
cone-rod dystrophy 16
  • cord16
- elite association - COSMIC cancer census association via MalaCards
Search DRAM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DRAM2_HUMAN
  • Cone-rod dystrophy 21 (CORD21) [MIM:616502]: 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. {ECO:0000269 PubMed:25983245}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DRAM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DRAM2: view

No data available for Genatlas for DRAM2 Gene

Publications for DRAM2 Gene

  1. Analysis of DRAM-related proteins reveals evolutionarily conserved and divergent roles in the control of autophagy. (PMID: 19556885) O'Prey J … Ryan KM (Cell cycle (Georgetown, Tex.) 2009) 2 3 4 56
  2. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. (PMID: 25983245) El-Asrag ME … Ali M (American journal of human genetics 2015) 3 4 56
  3. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 43 56
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  5. Reduced expression of DRAM2/TMEM77 in tumor cells interferes with cell death. (PMID: 19895784) Park SM … Park J (Biochemical and biophysical research communications 2009) 3 4 56

ExternalLinks

View latest publications for DRAM2 gene in Mastermind

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