Gene
ebf3a
- ID
- ZDB-GENE-070112-292
- Name
- EBF transcription factor 3a
- Symbol
- ebf3a Nomenclature History
- Previous Names
-
- ebf3
- zgc:158829
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Predicted to be located in nucleus. Is expressed in brain and sensory system. Human ortholog(s) of this gene implicated in hypotonia, ataxia, and delayed development syndrome. Orthologous to several human genes including EBF1 (EBF transcription factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- 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 |
|---|---|---|---|
| hypotonia, ataxia, and delayed development syndrome | Alliance | Hypotonia, ataxia, and delayed development syndrome | 617330 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018350 | Transcription factor COE, conserved site |
| Domain | IPR002909 | IPT domain |
| Domain | IPR032200 | Transcription factor COE, DNA-binding domain |
| Domain | IPR032201 | Transcription factor COE, helix-loop-helix domain |
| Domain | IPR038006 | Transcription factor COE, IPT domain |
| Family | IPR003523 | Transcription factor COE |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
| Homologous_superfamily | IPR038173 | Transcription factor COE, DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Immunoglobulin E-set | Immunoglobulin-like fold | IPT domain | Transcription factor COE | Transcription factor COE, conserved site | Transcription factor COE, DNA-binding domain | Transcription factor COE, DNA-binding domain superfamily | Transcription factor COE, helix-loop-helix domain | Transcription factor COE, IPT domain |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A286Y8W0
|
584 | |||||||||
|
UniProtKB:A0A8M3B4V8
|
587 | |||||||||
|
UniProtKB:A0A8M2B2S0
|
557 | |||||||||
|
UniProtKB:A0A8M2B3A0
|
593 | |||||||||
|
UniProtKB:A0A8M2B3A6
|
547 | |||||||||
|
UniProtKB:A0A8M3AYM5
|
596 | |||||||||
|
UniProtKB:A1L2E2
|
548 | |||||||||
|
UniProtKB:A0A8M3BEC3
|
597 | |||||||||
|
UniProtKB:A0A8M2B362
|
592 | |||||||||
|
UniProtKB:A0A8M2B369
|
527 | |||||||||
|
UniProtKB:A0A8M3B7N8
|
588 | |||||||||
|
UniProtKB:A0A8M3AYP6
|
561 | |||||||||
|
UniProtKB:A0A8M3BEC5
|
531 | |||||||||
|
UniProtKB:A0A0R4IWI1
|
591 | |||||||||
|
UniProtKB:A0A8M2B2G9
|
583 |
Interactions and Pathways
No data available
Plasmids
No data available