Gene
auts2a
- ID
- ZDB-GENE-030616-571
- Name
- activator of transcription and developmental regulator AUTS2 a
- Symbol
- auts2a Nomenclature History
- Previous Names
-
- auts2
- si:ch211-103d22.3
- si:zc103d22.3
- wu:fj83b10
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Involved in embryonic viscerocranium morphogenesis; forebrain neuron development; and neuron cellular homeostasis. Used to study microcephaly and syndromic intellectual disability. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 26. Is expressed in several structures, including anterior neural keel; anterior neural rod; brain; hindbrain neural keel; and posterior neural rod. Orthologous to human AUTS2 (activator of transcription and developmental regulator AUTS2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant intellectual developmental disorder 26 | Alliance | Intellectual developmental disorder, autosomal dominant 26 | 615834 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR023246 | Autism susceptibility gene 2 protein |
Domain Details Per Protein
Protein | Length | Autism susceptibility gene 2 protein |
---|---|---|
UniProtKB:A0A8M9QL45
|
1276 | |
UniProtKB:E7F4D0
|
1278 | |
UniProtKB:A0A8M9PS82
|
1104 | |
UniProtKB:F1QRM5
|
1126 | |
UniProtKB:A0A2R8RIS2
|
810 | |
UniProtKB:A0A8M6Z8W2
|
1271 | |
UniProtKB:A0A1X9RK91
|
811 | |
UniProtKB:A0A1X9RK86
|
1277 | |
UniProtKB:A0A8M6Z317
|
1277 | |
UniProtKB:A0A1X9RK87
|
1277 | |
UniProtKB:A0A8M3AWT8
|
1128 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
auts2a-201
(1)
|
Ensembl | 4,086 nt | ||
mRNA |
auts2a-202
(1)
|
Ensembl | 4,714 nt | ||
mRNA |
auts2a-203
(1)
|
Ensembl | 4,214 nt | ||
mRNA |
auts2a-204
(1)
|
Ensembl | 3,533 nt | ||
mRNA |
auts2a-205
(1)
|
Ensembl | 4,122 nt | ||
mRNA |
auts2a-206
(1)
|
Ensembl | 3,039 nt | ||
mRNA |
auts2a-207
(1)
|
Ensembl | 5,319 nt | ||
mRNA |
auts2a-208
(1)
|
Ensembl | 4,711 nt | ||
mRNA |
auts2a-209
(1)
|
Ensembl | 4,843 nt |
Interactions and Pathways
No data available
Plasmids
No data available