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Gene : SPTA1 Homo sapiens

Name  ? spectrin alpha, erythrocytic 1 Cytological Location  1q23.1
Brief Description  spectrin alpha, erythrocytic 1
description  This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]
  • synonyms:
  • SPTA,
  • EL2,
  • NM_003126,
  • HPP,
  • HS3,
  • EL2,
  • SPTA1,
  • spectrin, alpha, erythrocytic 1 (elliptocytosis 2),
  • M61877,
  • OTTHUMG00000019636,
  • uc001fst.2,
  • elliptocytosis 2,
  • HGNC:11272,
  • SPH3
  • identifiers:
  • 6708,
  • ENSG00000163554,
  • SPTA1

Genome feature

Region: gene ? Length: 76218  
Location: 1:158610498-158686715 reverse strand Cyto location: 1q23.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 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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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

804 SN Ps

5 Cross References

19 Data Sets

17 Homologues

0 Located Features

90 Rna Seq Results