IGHMBP2 Gene Summary [Human]
This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | IGHMBP2 |
| Official Name | immunoglobulin mu DNA binding protein 2 [Source:HGNC Symbol;Acc:HGNC:5542] |
| Ensembl ID | ENSG00000132740 |
| Bio databases IDs | |
| Aliases | immunoglobulin mu DNA binding protein 2, cardiac transcription factor 1, zinc finger, AN1-type domain 7 |
| Synonyms | AEP, CATF1, CMT2S, HCSA, HMN6, HMNR1, immunoglobulin mu DNA binding protein 2, nmd, RIPE3b1, sma, SMARD1, Smbp-2, SMUBP2, ZFAND7 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IGHMBP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tRNA binding
- R3H
- ATP binding
- DNA helicase, putative
- transcription factor binding
- enzyme
- protein binding
- DNA dependent ATPase
- RNA helicase
- RNA dependent ATPase
- identical protein binding
- ATPase
- single-stranded RNA binding
- DNA binding
- DNA helicase
- AAA domain
- RNA binding
- single-stranded DNA binding
- R3H domain
- N-terminal helicase domain of the DEAD-box helicase superfamily
- ribosome binding
- AN1-like Zinc finger
- variable light chain
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- spinal muscular atrophy with respiratory distress type 1
- axonal Charcot-Marie-Tooth disease type 2S
- spinal muscular atrophy
- peripheral neuropathy
- Charcot-Marie-Tooth disease
- distal hereditary motor neuronopathy type 1
- distal spinal muscular atrophy
- lepromatous leprosy
- neurodevelopmental disorder
role in cell
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- cytosol
- nucleoplasm
- nuclear bodies
- growth cone
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IGHMBP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA duplex unwinding
- RNA secondary structure unwinding
Cellular Component
Where in the cell the gene product is active
- growth cone
- nucleus
- nuclear body
- cytoplasm
- membrane
- axon
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- identical protein binding
- DNA-dependent ATPase activity
- zinc ion binding
- RNA-dependent ATPase activity
- double-stranded DNA-dependent ATP-dependent DNA helicase activity
- transcription factor binding
- tRNA binding
- 5'-3' DNA helicase activity
- single-stranded DNA binding
- ATP binding
- DNA binding
- DNA helicase activity
- RNA binding
- protein binding
- ribosome binding
- single-stranded RNA binding
- 5'-3' RNA helicase activity