Gene
dip2bb
- ID
- ZDB-GENE-100729-4
- Name
- disco-interacting protein 2 homolog Bb
- Symbol
- dip2bb Nomenclature History
- Previous Names
-
- si:ch73-187p21.2
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder type FRA12A. Orthologous to human DIP2B (disco interacting protein 2 homolog B).
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa11944 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa15645 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa15891 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18847 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31527 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38568 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder type FRA12A | Alliance | Intellectual developmental disorder, autosomal dominant, FRA12A type | 136630 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | AMP-binding enzyme, C-terminal domain superfamily | AMP-dependent synthetase/ligase domain | ANL, N-terminal domain | Dip2-like domain | DMAP1-binding domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q253 | InterPro | 1609 | |||||
| UniProtKB:A0A8M9Q4J7 | InterPro | 1601 | |||||
| UniProtKB:A0A8M9PYS4 | InterPro | 1607 | |||||
| UniProtKB:A0A8M9PRJ7 | InterPro | 1609 | |||||
| UniProtKB:A0A8M9PF38 | InterPro | 1288 | |||||
| UniProtKB:A0A8M9PY21 | InterPro | 1609 | |||||
| UniProtKB:A0A8M3BAI5 | InterPro | 1615 | |||||
| UniProtKB:A0A8M9PF35 | InterPro | 1615 | |||||
| UniProtKB:A0A8M9Q919 | InterPro | 1607 | |||||
| UniProtKB:A0A8M9P9C1 | InterPro | 1601 | |||||
| UniProtKB:A0A8M9PRY2 | InterPro | 1609 | |||||
| UniProtKB:A0AB32TJ00 | InterPro | 870 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
dip2bb-201
(1)
|
Ensembl | 5,378 nt | ||
| mRNA |
dip2bb-202
(1)
|
Ensembl | 4,605 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-187P21 | ZFIN Curated Data | |
| Contained in | BAC | CH211-246H21 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009302576 (1) | 11776 nt | ||
| Genomic | GenBank:AL928872 (1) | 200760 nt | ||
| Polypeptide | UniProtKB:A0A8M3BAI5 (1) | 1615 aa |
- Comparative Orthology
- Alliance
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
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