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
- Acts upstream of or within embryonic viscerocranium morphogenesis; forebrain neuron development; and neuron cellular homeostasis. Is expressed in several structures, including anterior neural keel; anterior neural rod; brain; hindbrain neural keel; and posterior neural rod. Used to study microcephaly and syndromic intellectual disability. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 26. 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