IGHMBP2, Official Symbol IGHMBP2provided by HGNC Official Full Name immunoglobulin mu DNA binding protein 2provided by HGNC Primary source HGNC:HGNC:5542 See related Ensembl:ENSG00000132740 MIM:600502; AllianceGenome:HGNC:5542 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HCSA; HMN6; CATF1; CMT2S; SMARD1; SMUBP2; ZFAND7 Summary 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] Expression Broad expression in testis (RPKM 9.6), endometrium (RPKM 3.4) and 25 other tissues See more Orthologs mouse all