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Gene : CTNNA1 Homo sapiens

Name  ? catenin alpha 1 Cytological Location  5q31.2
Brief Description  catenin alpha 1
Description  This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
  • synonyms:
  • CTNNA1,
  • CAP102,
  • MDPT2,
  • HGNC:2509,
  • uc003ldh.4,
  • NM_001903,
  • D13866,
  • alpha-E-catenin,
  • CAP102,
  • catenin (cadherin-associated protein), alpha 1 (102kD),
  • OTTHUMG00000163502
  • identifiers:
  • 1495,
  • ENSG00000044115,
  • CTNNA1

Genome feature

Region: gene ? Length: 181649  
Location: 5:138753386-138935034 Cyto location: 5q31.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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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Expression

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

Gene Ontology

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Other

3756 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results