Aliases for IGHMBP2 Gene
External Ids for IGHMBP2 Gene
Previous GeneCards Identifiers for IGHMBP2 Gene
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]
GeneCards Summary for IGHMBP2 Gene
IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2) is a Protein Coding gene. Diseases associated with IGHMBP2 include Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 and Charcot-Marie-Tooth Disease, Axonal, Type 2E. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is SETX.
UniProtKB/Swiss-Prot Summary for IGHMBP2 Gene
5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV.