RBM28, Official Symbol RBM28provided by HGNC Official Full Name RNA binding motif protein 28provided by HGNC Primary source HGNC:HGNC:21863 See related Ensembl:ENSG00000106344 MIM:612074; AllianceGenome:HGNC:21863 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 ANES; NOP4 Summary The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 3.3) and 25 other tissues See more Orthologs mouse all