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The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
SEZ6 (Seizure Related 6 Homolog) is a Protein Coding gene. Diseases associated with SEZ6 include Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb and Febrile Seizures. An important paralog of this gene is SEZ6L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0043025 | neuronal cell body | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008344 | adult locomotory behavior | IEA | -- |
GO:0021680 | cerebellar Purkinje cell layer development | IEA | -- |
GO:0050773 | regulation of dendrite development | IEA | -- |
GO:0060074 | synapse maturation | IEA | -- |
GO:0060079 | excitatory postsynaptic potential | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SEZ6 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | SEZ6 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | SEZ6 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Sez6 32 |
|
||
mouse (Mus musculus) |
Mammalia | Sez6 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
oppossum (Monodelphis domestica) |
Mammalia | SEZ6 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SEZ6 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | SEZ6 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | sez6 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | sez6 32 |
|
||
sez6b 33 |
|
OneToMany | |||
sez6a 33 |
|
OneToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs863223347 | likely-pathogenic, Childhood-Onset Schizophrenia | 28,981,409(-) | GTGGTGGTAGTGGTGGT/GTGGTGGT | coding_sequence_variant, inframe_deletion | |
rs1000005510 | -- | 29,002,979(-) | G/C | intron_variant | |
rs1000064334 | -- | 28,989,799(-) | G/A | intron_variant | |
rs1000143657 | -- | 28,992,690(-) | A/G | intron_variant | |
rs1000190251 | -- | 28,976,538(-) | G/A | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3640318 | CNV | loss | 21293372 |
esv3892990 | CNV | loss | 25118596 |
nsv457719 | CNV | loss | 19166990 |
nsv574662 | CNV | loss | 21841781 |
nsv833408 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chromosome 17q11.2 deletion syndrome, 1.4-mb |
|
|
febrile seizures |
|
|