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DRAM2 DNA damage regulated autophagy modulator 2 [ Homo sapiens (human) ]

Gene ID: 128338, updated on 5-Aug-2018

Summary

Official Symbol
DRAM2provided by HGNC
Official Full Name
DNA damage regulated autophagy modulator 2provided by HGNC
Primary source
HGNC:HGNC:28769
See related
Ensembl:ENSG00000156171 MIM:613360; Vega:OTTHUMG00000011911
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CORD21; PRO180; TMEM77; WWFQ154
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 of this gene and produce the disease state. [provided by RefSeq, Mar 2017]
Expression
Ubiquitous expression in lymph node (RPKM 29.0), spleen (RPKM 26.6) and 25 other tissues See more
Orthologs

Genomic context

See DRAM2 in Genome Data Viewer
Location:
1p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (111117170..111140216, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111659954..111682838, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cyclin T2 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 54 Neighboring gene choline/ethanolamine phosphotransferase 1 Neighboring gene uncharacterized LOC107985180 Neighboring gene DENN domain containing 2D Neighboring gene chitinase 3 like 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cone-rod dystrophy 21
MedGen: CN231743 OMIM: 616502 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC54289, RP5-1180E21.1

Gene Ontology Provided by GOA

Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
autophagy IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of autophagy IDA
Inferred from Direct Assay
more info
PubMed 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
DNA damage-regulated autophagy modulator protein 2
Names
damage regulated autophagy modulator 2
transmembrane protein 77

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053089.1 RefSeqGene

    Range
    5001..28047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001349881.1NP_001336810.1  DNA damage-regulated autophagy modulator protein 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-5 all encode the same isoform (a).
    Source sequence(s)
    AL355816
    Consensus CDS
    CCDS30801.1
    Related
    ENSP00000286692.4, ENST00000286692.8
    Conserved Domains (1) summary
    pfam10277
    Location:7233
    Frag1; Frag1/DRAM/Sfk1 family
  2. NM_001349882.1NP_001336811.1  DNA damage-regulated autophagy modulator protein 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 2, 4, and 5, encodes isoform a.
    Source sequence(s)
    AL355816
    Consensus CDS
    CCDS30801.1
    Conserved Domains (1) summary
    pfam10277
    Location:7233
    Frag1; Frag1/DRAM/Sfk1 family
  3. NM_001349884.1NP_001336813.1  DNA damage-regulated autophagy modulator protein 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1-3 and 5, encodes isoform a.
    Source sequence(s)
    AL355816
    Consensus CDS
    CCDS30801.1
    Conserved Domains (1) summary
    pfam10277
    Location:7233
    Frag1; Frag1/DRAM/Sfk1 family
  4. NM_001349885.1NP_001336814.1  DNA damage-regulated autophagy modulator protein 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1-4, encodes isoform a.
    Source sequence(s)
    AL355816
    Consensus CDS
    CCDS30801.1
    Conserved Domains (1) summary
    pfam10277
    Location:7233
    Frag1; Frag1/DRAM/Sfk1 family
  5. NM_001349886.1NP_001336815.1  DNA damage-regulated autophagy modulator protein 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 7 and 8, encodes isoform b.
    Source sequence(s)
    AL355816
    Conserved Domains (1) summary
    pfam10277
    Location:25143
    Frag1; Frag1/DRAM/Sfk1 family
  6. NM_001349887.1NP_001336816.1  DNA damage-regulated autophagy modulator protein 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 6 and 8, encodes isoform b.
    Source sequence(s)
    AL355816
    Conserved Domains (1) summary
    pfam10277
    Location:25143
    Frag1; Frag1/DRAM/Sfk1 family
  7. NM_001349888.1NP_001336817.1  DNA damage-regulated autophagy modulator protein 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 6 and 7, encodes isoform b.
    Source sequence(s)
    AL355816
    Conserved Domains (1) summary
    pfam10277
    Location:25143
    Frag1; Frag1/DRAM/Sfk1 family
  8. NM_001349889.1NP_001336818.1  DNA damage-regulated autophagy modulator protein 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 10-13, encodes isoform c.
    Source sequence(s)
    AL355816
    Conserved Domains (1) summary
    pfam10277
    Location:1103
    Frag1; Frag1/DRAM/Sfk1 family
  9. NM_001349890.1NP_001336819.1  DNA damage-regulated autophagy modulator protein 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 9 and 11-13, encodes isoform c.
    Source sequence(s)
    AL355816
    Conserved Domains (1) summary
    pfam10277
    Location:1103
    Frag1; Frag1/DRAM/Sfk1 family
  10. NM_001349891.1NP_001336820.1  DNA damage-regulated autophagy modulator protein 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 9, 10, 12, and 13, encodes isoform c.
    Source sequence(s)
    AL355816
    Conserved Domains (1) summary
    pfam10277
    Location:1103
    Frag1; Frag1/DRAM/Sfk1 family
  11. NM_001349892.1NP_001336821.1  DNA damage-regulated autophagy modulator protein 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 9-11 and 13, encodes isoform c.
    Source sequence(s)
    AL355816
    Conserved Domains (1) summary
    pfam10277
    Location:1103
    Frag1; Frag1/DRAM/Sfk1 family
  12. NM_001349893.1NP_001336822.1  DNA damage-regulated autophagy modulator protein 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 9-12, encodes isoform c.
    Source sequence(s)
    AL355816
    Conserved Domains (1) summary
    pfam10277
    Location:1103
    Frag1; Frag1/DRAM/Sfk1 family
  13. NM_178454.5NP_848549.3  DNA damage-regulated autophagy modulator protein 2 isoform a

    See identical proteins and their annotated locations for NP_848549.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 1 and 3-5, encodes isoform a.
    Source sequence(s)
    AL355816, AY358492, DC339928
    Consensus CDS
    CCDS30801.1
    UniProtKB/Swiss-Prot
    Q6UX65
    UniProtKB/TrEMBL
    A0A024R0B7
    Related
    ENSP00000437718.1, ENST00000539140.5
    Conserved Domains (1) summary
    pfam10277
    Location:7233
    Frag1; Frag1/DRAM/Sfk1 family

RNA

  1. NR_146301.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816
    Related
    ENST00000484310.5
  2. NR_146302.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816
  3. NR_146303.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816
  4. NR_146304.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816
  5. NR_146305.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816
  6. NR_146306.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816
  7. NR_146307.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816
  8. NR_146308.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    111117170..111140216 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540708.1XP_011539010.1  DNA damage-regulated autophagy modulator protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011539010.1

    UniProtKB/Swiss-Prot
    Q6UX65
    UniProtKB/TrEMBL
    A0A024R0B7
    Conserved Domains (1) summary
    pfam10277
    Location:7233
    Frag1; Frag1/DRAM/Sfk1 family
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