SPTB gene

spectrin beta, erythrocytic

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Spherocytosis type 2
  • Elliptocytosis 3

From UniProt:

Elliptocytosis 3 (EL3): A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive. [MIM:617948]

Spherocytosis 2 (SPH2): An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity. [MIM:616649]

Cytogenetic Location: 14q23.3, which is the long (q) arm of chromosome 14 at position 23.3

Molecular Location: base pairs 64,744,106 to 64,879,907 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q23.3, which is the long (q) arm of chromosome 14 at position 23.3
  • EL3
  • HS2
  • HSPTB1
  • SPH2