Gene
inpp5kb
- ID
- ZDB-GENE-100408-3
- Name
- inositol polyphosphate-5-phosphatase Kb
- Symbol
- inpp5kb Nomenclature History
- Previous Names
-
- inpp5k
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have inositol bisphosphate phosphatase activity; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity; and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Involved in camera-type eye development and skeletal muscle fiber development. Predicted to localize to endoplasmic reticulum; plasma membrane; and ruffle. Human ortholog(s) of this gene implicated in congenital muscular dystrophy with cataracts and intellectual disability. Orthologous to human INPP5K (inositol polyphosphate-5-phosphatase K).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from 2 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 |
---|---|---|---|
congenital muscular dystrophy with cataracts and intellectual disability | Alliance | Muscular dystrophy, congenital, with cataracts and intellectual disability | 617404 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Endonuclease/exonuclease/phosphatase superfamily | Inositol 5-phosphatase | Inositol polyphosphate-related phosphatase | SKICH domain |
---|---|---|---|---|---|
UniProtKB:A0A8M2B261
|
526 | ||||
UniProtKB:A0A8M2B205
|
517 | ||||
UniProtKB:A0A8N7UTA0
|
468 | ||||
UniProtKB:A0A8M9QL16
|
517 | ||||
UniProtKB:A0A2R8QKI3
|
526 | ||||
UniProtKB:A0A8M9QH03
|
459 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
antisense |
ottdart00000059909
(1)
|
Ensembl | 953 nt | ||
mRNA |
inpp5kb-201
(1)
|
Ensembl | 3,508 nt | ||
mRNA |
inpp5kb-202
(1)
|
Ensembl | 1,467 nt | ||
mRNA |
inpp5kb-203
(1)
|
Ensembl | 3,682 nt | ||
mRNA |
inpp5kb-204
(1)
|
Ensembl | 3,535 nt |
Interactions and Pathways
No data available
Plasmids
No data available