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Gene : ACTN2 Homo sapiens

Name  ? actinin alpha 2 Cytological Location  1q43
Brief Description  actinin alpha 2
description  Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
  • synonyms:
  • NM_001103,
  • CMD1AA,
  • CMH23,
  • BC047901,
  • uc001hyf.4,
  • HGNC:164,
  • OTTHUMG00000040059,
  • ACTN2
  • identifiers:
  • 88,
  • ENSG00000077522,
  • ACTN2

Genome feature

Region: gene ? Length: 78178  
Location: 1:236686454-236764631 Cyto location: 1q43


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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

553 SN Ps

5 Cross References

20 Data Sets

18 Homologues

5 Located Features

90 Rna Seq Results