Gene
u2af2a
- ID
- ZDB-GENE-050706-131
- Name
- U2 small nuclear RNA auxiliary factor 2a
- Symbol
- u2af2a Nomenclature History
- Previous Names
-
- zgc:110115
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable poly-pyrimidine tract binding activity and pre-mRNA 3'-splice site binding activity. Predicted to be involved in spliceosomal complex assembly. Predicted to act upstream of or within RNA splicing; female sex differentiation; and mRNA processing. Predicted to be located in nucleus. Predicted to be part of U2-type prespliceosome; U2AF complex; and commitment complex. Predicted to be active in nuclear speck. Human ortholog(s) of this gene implicated in developmental delay, dysmorphic facies, and brain anomalies. Orthologous to human U2AF2 (U2 small nuclear RNA auxiliary factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental delay, dysmorphic facies, and brain anomalies | Alliance | Developmental delay, dysmorphic facies, and brain anomalies | 620535 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000504 | RNA recognition motif domain |
| Family | IPR006529 | U2 snRNP auxilliary factor, large subunit, splicing factor |
| Family | IPR010519 | Female-specific protein transformer |
| Homologous_superfamily | IPR012677 | Nucleotide-binding alpha-beta plait domain superfamily |
| Homologous_superfamily | IPR035979 | RNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Female-specific protein transformer | Nucleotide-binding alpha-beta plait domain superfamily | RNA-binding domain superfamily | RNA recognition motif domain | U2 snRNP auxilliary factor, large subunit, splicing factor |
|---|---|---|---|---|---|---|
|
UniProtKB:E7F8Y4
|
470 | |||||
|
UniProtKB:A0A8M9PJH8
|
373 | |||||
|
UniProtKB:Q4KMI5
|
465 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
u2af2a-201
(1)
|
Ensembl | 2,791 nt | ||
| mRNA |
u2af2a-202
(1)
|
Ensembl | 2,106 nt |
Interactions and Pathways
No data available
Plasmids
No data available