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The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
TECPR2 (Tectonin Beta-Propeller Repeat Containing 2) is a Protein Coding gene. Diseases associated with TECPR2 include Spastic Paraplegia 49, Autosomal Recessive and Birdshot Chorioretinopathy. An important paralog of this gene is HPS5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 20562859 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006914 | autophagy | IEA | -- |
GO:0032527 | protein exit from endoplasmic reticulum | IMP | 26431026 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TECPR2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TECPR2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tecpr2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tecpr2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TECPR2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TECPR2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TECPR2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TECPR2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TECPR2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tecpr2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tecpr2 30 31 |
|
OneToOne | |
Dr.25330 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11141 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
643494 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive | 102,449,735(+) | T/C | MISSENSE_VARIANT | |
646985 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive | 102,498,210(+) | G/A | MISSENSE_VARIANT | |
647491 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive | 102,434,823(+) | CTGA/C | INFRAME_DELETION | |
649453 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive | 102,414,777(+) | A/G | MISSENSE_VARIANT | |
651200 | Uncertain Significance: Spastic paraplegia 49, autosomal recessive; not provided | 102,435,147(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv263n27 | CNV | gain | 19166990 |
esv23885 | CNV | gain | 19812545 |
esv2670585 | CNV | deletion | 23128226 |
esv2671371 | CNV | deletion | 23128226 |
esv2676040 | CNV | deletion | 23128226 |
esv2749150 | CNV | deletion | 23290073 |
esv3441952 | CNV | insertion | 20981092 |
esv3552079 | CNV | deletion | 23714750 |
esv3635555 | CNV | gain | 21293372 |
esv3635556 | CNV | loss | 21293372 |
esv3635557 | CNV | loss | 21293372 |
esv5763 | CNV | gain | 19470904 |
nsv1049544 | CNV | gain | 25217958 |
nsv1115804 | CNV | deletion | 24896259 |
nsv1153710 | CNV | deletion | 26484159 |
nsv1160203 | CNV | deletion | 26073780 |
nsv470671 | CNV | gain | 18288195 |
nsv522878 | CNV | loss | 19592680 |
nsv565948 | CNV | gain | 21841781 |
nsv832880 | CNV | loss | 17160897 |
nsv952253 | CNV | duplication | 24416366 |
nsv952254 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 49, autosomal recessive |
|
|
birdshot chorioretinopathy |
|
|
spastic paraparesis |
|
|
mental retardation, fra12a type |
|
|
paraplegia |
|
|