Gene
aff2
- ID
- ZDB-GENE-110411-190
- Name
- AF4/FMR2 family, member 2
- Symbol
- aff2 Nomenclature History
- Previous Names
-
- si:ch211-76h4.1
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable G-quadruplex RNA binding activity. Predicted to be involved in regulation of RNA splicing. Predicted to act upstream of or within regulation of gene expression. Predicted to be located in nucleus. Predicted to be active in nuclear speck. Is expressed in intermediate cell mass of mesoderm. Human ortholog(s) of this gene implicated in X-linked intellectual developmental disorder 109. Orthologous to human AFF2 (ALF transcription elongation factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Armant et al., 2013
- 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
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| X-linked intellectual developmental disorder 109 | Alliance | Intellectual developmental disorder, X-linked 109 | 309548 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | AF4/FMR2, C-terminal homology domain | AF4/FMR2 family | AF4 interaction motif |
|---|---|---|---|---|
|
UniProtKB:E7F2E1
|
1269 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-174G11 | ZFIN Curated Data | |
| Contained in | BAC | CH211-76H4 | ZFIN Curated Data | |
| Contained in | BAC | CH211-224P3 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-16P14 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_002664383 (1) | |||
| Genomic | GenBank:BX247882 (1) | 196155 nt | ||
| Polypeptide | UniProtKB:E7F2E1 (1) | 1269 aa |
- Capon, S.J., Uribe, V., Dominado, N., Ehrlich, O., Smith, K.A. (2022) Endocardial identity is established during early somitogenesis by Bmp signalling acting upstream of npas4l and etv2. Development (Cambridge, England). 149(9):
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Armant, O., März, M., Schmidt, R., Ferg, M., Diotel, N., Ertzer, R., Bryne, J.C., Yang, L., Baader, I., Reischl, M., Legradi, J., Mikut, R., Stemple, D., Ijcken, W.V., van der Sloot, A., Lenhard, B., Strähle, U., and Rastegar, S. (2013) Genome-wide, whole mount in situ analysis of transcriptional regulators in zebrafish embryos. Developmental Biology. 380(2):351-62
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