SPTBN1 spectrin beta, non-erythrocytic 1
Gene ID: 6711, updated on 5-Mar-2024Gene type: protein coding
Also known as: ELF; SPTB2; DDISBA; HEL102; betaSpII
- See all available tests in GTR for this gene
- Go to complete Gene record for SPTBN1
- Go to Variation Viewer for SPTBN1 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Developmental delay, impaired speech, and behavioral abnormalities | See labs |
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. GeneReviews: Not available | |
Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. GeneReviews: Not available | |
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
Multiple genetic loci for bone mineral density and fractures. GeneReviews: Not available | |
New sequence variants associated with bone mineral density. GeneReviews: Not available | |
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 2p16.2
- Sequence:
- Chromosome: 2; NC_000002.12 (54456327..54671446)
- Total number of exons:
- 44
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for SPTBN1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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