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Gene : SPTBN1 Homo sapiens

Name  ? spectrin beta, non-erythrocytic 1 Cytological Location  2p16.2
Brief Description  spectrin beta, non-erythrocytic 1
description  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]
  • synonyms:
  • HEL102,
  • Beta-II spectrin,
  • NM_003128,
  • ELF,
  • SPTBN1,
  • OTTHUMG00000133746,
  • SPTB2,
  • uc002rxu.4,
  • Fodrin beta chain,
  • HGNC:11275,
  • betaSpII
  • identifiers:
  • 6711,
  • ENSG00000115306,
  • SPTBN1

Genome feature

Region: gene ? Length: 215130  
Location: 2:54456317-54671446 Cyto location: 2p16.2


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

2011 SN Ps

5 Cross References

17 Data Sets

18 Homologues

0 Located Features

90 Rna Seq Results