SPTB
Sign in to saveAlso known as EL3, HS2, HSPTB1, SPH2, spectrin beta, erythrocytic
Spectrin beta chain, erythrocyte is a protein that in humans is encoded by the SPTB gene.
Gene data
SPTB- Name
- spectrin beta, erythrocytic
- Type
- protein-coding
- Position
- 64,746,283–64,879,907 (−)
- Aliases
- EL3, HS2, HSPTB1, SPH2
- Ensembl
- ENSG00000070182
- RefSeq RNA
- NM_000347.5, NM_001024858.4, NM_001355436.2, NM_001355437.2, XM_011537105.4
- RefSeq protein
- NP_001020029.1, NP_001342365.1, NP_001342366.1, XP_011535407.1, XP_016877101.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
spectrin beta, erythrocytic
- Symbol
- SPTB
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:64,746,283-64,880,019
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein SPTB PDB 1s35.png
Show 5 more facts
- exact match
- identifiers.org/ncbigene/6710
- HomoloGene ID
- 295
- genomic end
- 64879907
- genomic start
- 65213002
- cytogenetic location
- 14q23.3
Sources (3)
via Wikidata · CC0
~1 min read
Article
2 sectionsContents
- References
- Further reading
Spectrin beta chain, erythrocyte is a protein that in humans is encoded by the SPTB gene.
== References ==