Gene: LOC105374640

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: SPTBN1

Alternate names for this Gene: ELF|HEL102|SPTB2|betaSpII

Gene Summary: Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.2

Description of this Gene: spectrin beta, non-erythrocytic 1

Type of Gene: protein-coding

rs12105792 in LOC105374640;SPTBN1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs4514918 in LOC105374640;SPTBN1 gene and Tonometry PMID 30591961 2019 Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.