ASTN2 - astrotactin 2 Gene
Also Known as bA67K19.1
Species: Homo sapiens
About ASTN2
This gene has 8 transcripts (splice variants), 215 orthologues and 1 paralogue. Biased expression in prostate (RPKM 6.8), brain (RPKM 6.4) and 13 other tissues.
Summary
This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]
ASTN2 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001184734.1 | NP_001171663.1 | astrotactin-2 isoform e |
| NM_001184735.1 | NP_001171664.1 | astrotactin-2 isoform f |
| NM_001365068.1 | NP_001351997.1 | astrotactin-2 isoform g precursor |
| NM_001365069.1 | NP_001351998.1 | astrotactin-2 isoform h precursor |
| NM_014010.5 | NP_054729.3 | astrotactin-2 isoform a precursor |
| NM_198186.3 | NP_937829.3 | astrotactin-2 isoform b |
| NM_198187.3 | NP_937830.3 | astrotactin-2 isoform c |
| NM_198188.2 | NP_937831.1 | astrotactin-2 isoform d |
ASTN2 Protein Structure
FXa_inhibition: Coagulation Factor Xa inhibitory site (703 - 750)
MACPF: MAC/Perforin domain (863 - 934)
- 0
- 300
- 600
- 900
- 1200
- 1339 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
astrotactin-2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Bardet-Biedl Syndrome 11 |
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| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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| Creatine Phosphokinase, Elevated Serum |
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| Isolated Elevated Serum Creatine Phosphokinase Levels |
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| Bardet-Biedl Syndrome |
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| Myopathy |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
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| Schizophrenia |
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| Autism |
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| Limb-Girdle Muscular Dystrophy |
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| Cerebral Palsy |
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| Migraine Without Aura |
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| Migraine, Familial Hemiplegic, 2 |
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| Migraine, Familial Hemiplegic, 1 |
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| Autism Spectrum Disorder |
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| Attention Deficit-Hyperactivity Disorder |
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| Migraine With Or Without Aura 1 |
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