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Gene Symbol |
DRAM2 |
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Aliases |
CORD21, PRO180, TMEM77, WWFQ154 |
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Entrez Gene ID |
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Gene Name |
DNA damage regulated autophagy modulator 2 |
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Chromosomal Location |
1p13.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
NM_178454.5, NR_146301.1, NR_146302.1, NR_146303.1, NR_146304.1, NR_146305.1, NR_146306.1, NR_146307.1, NR_146308.1, NM_001349881.1, NM_001349882.1, NM_001349884.1, NM_001349885.1, NM_001349886.1, NM_001349887.1, NM_001349888.1, NM_001349889.1, NM_001349890.1, NM_001349891.1, NM_001349892.1, NM_001349893.1 |
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e!Ensembl
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| Protein Information |
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Protein Name |
DNA damage-regulated autophagy modulator protein 2, damage regulated autophagy modulator 2, transmembrane protein 77 |
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Function |
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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. |
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NP_848549.3, , NP_001336810.1, NP_001336811.1, NP_001336813.1, NP_001336814.1, NP_001336815.1, NP_001336816.1, NP_001336817.1, NP_001336818.1, NP_001336819.1, NP_001336820.1, NP_001336821.1, NP_001336822.1
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UniProt |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF10277 |
Frag1 |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000243167 |
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O00519 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Eye Diseases |
| Retinal Dystrophies |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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CK-9, A1AT, CK-1, APOA-1, ATTR, DBP, HP, DRAM2, APOA-4, IL12-A, SIRT2, FGG, FGB, ZAG, RBP, A1BG, GLUT4, TF, SPTLC2, MAK, SERPINA1 |
PCOS, increased risk of insulin resistance, abnormal glucose metabolism, type II diabetes, abnormal lipid metabolism, hyperinsulinemia |
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Rotterdam consensus criteria |
Related
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30 PCOS and 30 normal |
Thirty-two protein spots were shown to be significantly differentially expressed between PCOS and normal follicular fluids, of which 20 unique proteins were identified to be associated with cellular metabolism and physiological processes; 13 of these proteins were upregulated while seven were downregulated in PCOS follicular fluids. Semiquantitative reverse transcription-polymerase chain reaction (RTPCR) analyses revealed that mRNA levels of serine palmitoyltransferase 2, serine/threonine-protein kinase male germ cell-associated kinase (MAK) and DNA damage-regulated autophagy modulator protein 2 decreased significantly in granulosa cells of PCOS patients compared with normal samples. |
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