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This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]
RTN2 (Reticulon 2) is a Protein Coding gene. Diseases associated with RTN2 include Spastic Paraplegia 12, Autosomal Dominant and Spastic Paraplegia 12. An important paralog of this gene is RTN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 22232211 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA,IEA | 22232211 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0014802 | terminal cisterna | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0046324 | regulation of glucose import | IEA | -- |
GO:0065002 | intracellular protein transmembrane transport | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
dog (Canis familiaris) |
Mammalia | RTN2 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Rtn2 17 33 32 |
|
||
cow (Bos Taurus) |
Mammalia | RTN2 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Rtn2 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | RTN2 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
ManyToMany | |
lizard (Anolis carolinensis) |
Reptilia | RTN2 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | rtn2 32 |
|
||
Str.13645 32 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | rtn2a 33 |
|
OneToMany | |
rtn2b 33 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | Rtnl2 33 |
|
ManyToMany | |
CG42853 33 |
|
ManyToMany | |||
Rtnl1 33 |
|
ManyToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | ret-1 33 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10170 33 |
|
OneToMany |
SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs117156117 | benign, not specified, Spastic paraplegia | 45,495,123(-) | T/C | coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant | |
rs138355894 | uncertain-significance, Spastic paraplegia | 45,488,676(-) | C/A/T | coding_sequence_variant, missense_variant | |
rs139232850 | benign, Spastic paraplegia, not specified | 45,494,641(-) | G/C | coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant | |
rs140494585 | pathogenic, Spastic paraplegia 12, Spastic paraplegia 12, autosomal dominant (SPG12) [MIM:604805] | 45,489,487(-) | G/A | coding_sequence_variant, missense_variant | |
rs143937661 | likely-benign, benign, Spastic paraplegia, autosomal dominant, not provided, Spastic paraplegia | 45,489,419(-) | C/T | coding_sequence_variant, missense_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 12, autosomal dominant |
|
|
spastic paraplegia 12 |
|
|
paraplegia |
|
|
spastic paraplegia 61, autosomal recessive |
|
|
hereditary spastic paraplegia 51 |
|
|