SPTB

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]

Description

Spectrin beta, erythrocytic

Tissue specificity

Tissue enhanced (bone marrow, skeletal muscle, tongue)

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

14:q23.3 (64746283 - 64879907)

Ensembl ID

ENSG00000070182  (ver. 103.38)

Orthologs

Mouse Sptb: ENSMUSG00000021061

UniProt

P11277

neXtProt

NX_P11277

Human splice variants
Mouse splice variants