SPTB, Official Symbol SPTBprovided by HGNC Official Full Name spectrin beta, erythrocyticprovided by HGNC Primary source HGNC:HGNC:11274 See related Ensembl:ENSG00000070182 MIM:182870; AllianceGenome:HGNC:11274 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 EL3; HS2; SPH2; HSPTB1 Summary This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] Expression Biased expression in bone marrow (RPKM 15.7), heart (RPKM 8.2) and 8 other tissues See more Orthologs mouse all