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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]
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.
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 | -- |
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 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | DRAM2 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | DRAM2 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | DRAM2 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Dram2 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Dram2 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | DRAM2 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | DRAM2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | DRAM2 32 |
|
||
lizard (Anolis carolinensis) |
Reptilia | DRAM2 33 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | dram2b 33 32 |
|
OneToMany | |
dram2a 33 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | CG4025 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | C33A11.2 33 32 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2907 33 |
|
OneToOne |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cone-rod dystrophy 21 |
|
|
inherited retinal disorder |
|
|
fundus dystrophy |
|
|
cone-rod dystrophy 2 |
|
|
cone-rod dystrophy 16 |
|
|