Gene
gphnb
- ID
- ZDB-GENE-070705-4
- Name
- gephyrin b
- Symbol
- gphnb Nomenclature History
- Previous Names
-
- fj59a01
- wu:fj59a01
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable molybdopterin molybdotransferase activity. Acts upstream of or within glycine receptor clustering. Predicted to be active in several cellular components, including dendrite; postsynaptic membrane; and postsynaptic specialization. Is expressed in head; rhombomere; spinal cord; and spinal cord interneuron. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Ogino et al., 2011
- 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 |
|---|---|---|---|
| molybdenum cofactor deficiency type C | Alliance | Molybdenum cofactor deficiency C | 615501 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR008284 | Molybdenum cofactor biosynthesis, conserved site |
| Domain | IPR001453 | MoaB/Mog domain |
| Domain | IPR005110 | MoeA, N-terminal and linker domain |
| Domain | IPR005111 | MoeA, C-terminal, domain IV |
| Family | IPR038987 | Molybdopterin biosynthesis protein MoeA-like |
| Homologous_superfamily | IPR036135 | MoeA, N-terminal and linker domain superfamily |
| Homologous_superfamily | IPR036425 | MoaB/Mog-like domain superfamily |
| Homologous_superfamily | IPR036688 | MoeA, C-terminal, domain IV superfamily |
Domain Details Per Protein
| Protein | Length | MoaB/Mog domain | MoaB/Mog-like domain superfamily | MoeA, C-terminal, domain IV | MoeA, C-terminal, domain IV superfamily | MoeA, N-terminal and linker domain | MoeA, N-terminal and linker domain superfamily | Molybdenum cofactor biosynthesis, conserved site | Molybdopterin biosynthesis protein MoeA-like |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9P2E8
|
656 | ||||||||
|
UniProtKB:A0A8M9PP37
|
797 | ||||||||
|
UniProtKB:A0A8M9PH34
|
783 | ||||||||
|
UniProtKB:A0A8M9PSG2
|
739 | ||||||||
|
UniProtKB:D3KYL1
|
736 | ||||||||
|
UniProtKB:A0A8M9PBJ3
|
513 | ||||||||
|
UniProtKB:A0A8M9PSF7
|
799 | ||||||||
|
UniProtKB:A0A8M9PBI8
|
785 | ||||||||
|
UniProtKB:D3KYL2
|
796 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab2-gphn | monoclonal | IgG1 | Mouse |
|
BD Biosciences
|
4 |
Plasmids
No data available