Gene
pdcd6ip
- ID
- ZDB-GENE-040426-2678
- Name
- programmed cell death 6 interacting protein
- Symbol
- pdcd6ip Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to be involved in mitotic cytokinesis. Predicted to act upstream of or within multivesicular body sorting pathway. Predicted to be located in Flemming body. Predicted to be active in endosome. Is expressed in cloaca; epidermis; otic vesicle; and sensory system. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 29. Orthologous to human PDCD6IP (programmed cell death 6 interacting protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63638 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Corbett et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary autosomal recessive microcephaly 29 | Alliance | ?Microcephaly 29, primary, autosomal recessive | 620047 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | ALIX V-shaped domain | BRO1 domain | BRO1 domain superfamily |
|---|---|---|---|---|---|
| UniProtKB:B8JLR1 | InterPro | 866 | |||
| UniProtKB:A0A8M2B6D5 | InterPro | 871 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pdcd6ip-201
(1)
|
Ensembl | 4,172 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-PDCD6IP | monoclonal | Rabbit |
|
Cell Signaling Technology, Inc.
BioLegend |
1 |
Plasmids
No data available