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

rs1052788 in SPTBN1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11898505 in SPTBN1 gene and Bone Density PMID 19801982 2009 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.

PMID 18445777 2008 Multiple genetic loci for bone mineral density and fractures.

PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs10181201 in SPTBN1 gene and Glomerular Filtration Rate PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs6734445 in 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.

rs4557020 in SPTBN1 gene and Myopia, Degenerative PMID 22685421 2012 Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.

rs10205410 in SPTBN1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs76070960 in SPTBN1 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs75475627 in SPTBN1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.