Gene
ighmbp2
- ID
- ZDB-GENE-050419-258
- Name
- immunoglobulin mu DNA binding protein 2
- Symbol
- ighmbp2 Nomenclature History
- Previous Names
-
- ighmbp2l
- si:ch211-238n5.2 (1)
- zgc:110400
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable 5'-3' DNA helicase activity. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2S and distal spinal muscular atrophy 1. Orthologous to human IGHMBP2 (immunoglobulin mu DNA binding protein 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:6902687 (1 image)
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 |
|---|---|---|---|
| autosomal recessive distal hereditary motor neuronopathy 1 | Alliance | Neuronopathy, distal hereditary motor, autosomal recessive 1 | 604320 |
| Charcot-Marie-Tooth disease axonal type 2S | Alliance | Charcot-Marie-Tooth disease, axonal, type 2S | 616155 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000058 | Zinc finger, AN1-type |
| Domain | IPR001374 | R3H domain |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Domain | IPR034072 | DNA-binding protein SMUBP-2, R3H domain |
| Domain | IPR041677 | DNA2/NAM7 helicase, helicase domain |
| Domain | IPR041679 | DNA2/NAM7 helicase-like, C-terminal |
| Domain | IPR047187 | Upf1-like, C-terminal helicase domain |
| Domain | IPR048761 | Helicase SMUBP-2/HCS1, 1B domain |
| Family | IPR004483 | Helicase SMUBP-2/Hcs1-like |
| Family | IPR050534 | Coronaviruses polyprotein 1ab |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR035896 | AN1-like Zinc finger |
| Homologous_superfamily | IPR036867 | R3H domain superfamily |
Domain Details Per Protein
| Protein | Length | AAA+ ATPase domain | AN1-like Zinc finger | Coronaviruses polyprotein 1ab | DNA2/NAM7 helicase, helicase domain | DNA2/NAM7 helicase-like, C-terminal | DNA-binding protein SMUBP-2, R3H domain | Helicase SMUBP-2/HCS1, 1B domain | Helicase SMUBP-2/Hcs1-like | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | R3H domain | R3H domain superfamily | Upf1-like, C-terminal helicase domain | Zinc finger, AN1-type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:M9MM98
|
997 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ighmbp2-201
(1)
|
Ensembl | 3,450 nt |
Interactions and Pathways
No data available
Plasmids
No data available