Gene
ppip5k2
- ID
- ZDB-GENE-091204-125
- Name
- diphosphoinositol pentakisphosphate kinase 2
- Symbol
- ppip5k2 Nomenclature History
- Previous Names
-
- im:7137778
- si:dkey-117i20.1
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable 5-diphosphoinositol pentakisphosphate 1-kinase activity and inositol hexakisphosphate kinase activity. Predicted to be involved in inositol metabolic process and inositol phosphate biosynthetic process. Predicted to act upstream of or within phosphorylation. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 100. Orthologous to human PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7137778 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la027208Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa15105 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34832 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa34833 | 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 |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 100 | Alliance | Deafness, autosomal recessive 100 | 618422 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR033379 | Histidine acid phosphatase active site |
| Domain | IPR040557 | VIP1, N-terminal |
| Family | IPR000560 | Histidine phosphatase superfamily, clade-2 |
| Family | IPR037446 | Histidine acid phosphatase, VIP1 family |
| Homologous_superfamily | IPR029033 | Histidine phosphatase superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Histidine acid phosphatase active site | Histidine acid phosphatase, VIP1 family | Histidine phosphatase superfamily | Histidine phosphatase superfamily, clade-2 | VIP1, N-terminal |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AWJ0 | InterPro | 1184 | |||||
| UniProtKB:A0A8M3AWH6 | InterPro | 1289 | |||||
| UniProtKB:A0A8M2B378 | InterPro | 1242 | |||||
| UniProtKB:A0A8M9QKU2 | InterPro | 1266 | |||||
| UniProtKB:A0A8M9QGS3 | InterPro | 1226 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
ppip5k2-205
(1)
|
Ensembl | 795 nt | ||
| mRNA |
ppip5k2-201
(1)
|
Ensembl | 3,912 nt | ||
| mRNA |
ppip5k2-206
(1)
|
Ensembl | 5,059 nt | ||
| ncRNA |
ppip5k2-002
(1)
|
Ensembl | 327 nt | ||
| ncRNA |
ppip5k2-003
(1)
|
Ensembl | 429 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 | DKEY-117I20 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7137778 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009305113 (1) | 5447 nt | ||
| Genomic | GenBank:BX571726 (1) | 106819 nt | ||
| Polypeptide | UniProtKB:A0A8M3BCT9 (1) | 1310 aa |
- 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
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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