Gene
ampd2b
- ID
- ZDB-GENE-070713-5
- Name
- adenosine monophosphate deaminase 2b
- Symbol
- ampd2b Nomenclature History
- Previous Names
-
- ampd2
- fb72d11
- wu:fb72d11 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable AMP deaminase activity. Predicted to be involved in AMP metabolic process and IMP biosynthetic process. Predicted to act upstream of or within purine ribonucleoside monophosphate biosynthetic process. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 63 and pontocerebellar hypoplasia type 9. Orthologous to human AMPD2 (adenosine monophosphate deaminase 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa872 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa2452 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa7613 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa10749 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa16131 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21296 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 63 | Alliance | ?Spastic paraplegia 63, autosomal recessive | 615686 |
| pontocerebellar hypoplasia type 9 | Alliance | Pontocerebellar hypoplasia, type 9 | 615809 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Adenosine/AMP deaminase active site | AMP deaminase | Metal-dependent hydrolase |
|---|---|---|---|---|---|
| UniProtKB:B8JIS9 | InterPro | 756 | |||
| UniProtKB:A0A8M9QA40 | InterPro | 814 | |||
| UniProtKB:A0A8M3AV69 | InterPro | 830 | |||
| UniProtKB:A0A8M9QIZ0 | InterPro | 813 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ampd2b-201
(1)
|
Ensembl | 836 nt | ||
| mRNA |
ampd2b-202
(1)
|
Ensembl | 4,518 nt | ||
| mRNA |
ampd2b-203
(1)
|
Ensembl | 2,609 nt |
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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 | CH211-77C7 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-183P4 | ||
| Encodes | EST | fb72d11 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021478444 (1) | 3129 nt | ||
| Genomic | GenBank:CR847543 (1) | 207382 nt | ||
| Polypeptide | UniProtKB:A0A8M3AV69 (1) | 830 aa |
- 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
- 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
- Haug, M.F., Gesemann, M., Lazovic, V., Neuhauss, S.C. (2015) Eumetazoan Cryptochrome Phylogeny and Evolution. Genome biology and evolution. 7(2):601-19
- Steinke, D., Salzburger, W., Braasch, I., and Meyer, A. (2006) Many genes in fish have species-specific asymmetric rates of molecular evolution. BMC Genomics. 7(1):20
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