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This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008]
TEX12 (Testis Expressed 12) is a Protein Coding gene. Diseases associated with TEX12 include Hyperphenylalaninemia and Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome. Among its related pathways are Meiosis and Cell Cycle, Mitotic.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000795 | synaptonemal complex | IEA | -- |
GO:0000801 | central element | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Meiosis |
.73
|
.66
|
2 | Cell Cycle, Mitotic |
.83
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000711 | meiotic DNA repair synthesis | IEA | -- |
GO:0007130 | synaptonemal complex assembly | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TEX12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TEX12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TEX12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tex12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tex12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TEX12 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TEX12 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs750229518 | Conflicting Interpretations: BH4-deficient hyperphenylalaninemia A; not provided | 112,228,656(+) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2745077 | CNV | deletion | 23290073 |
nsv519192 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperphenylalaninemia |
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome |
|
|