QuickView for ACTN3;jsessionid=A474FC85C5804FBF6CF031254353F3F3 (gene)

Gene Symbol:

ACTN3 Homo sapiens

Full name:

actinin alpha 3 (gene/pseudogene)

Synonyms:

ACTN3D, alpha-actinin-3, F-actin cross-linking protein, actinin, alpha 3, alpha-actinin skeletal muscle

Genomic Location:

Chr 11: 66070967-66087373

Description:

This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding va...

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This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

E12_Q6 ,  MYOD_Q6_01 ,  HNF4ALPHA_Q6 ,  GATA1_01 ,  GCANCTGNY_MYOD_Q6 ,  NFKAPPAB_01 ,  CTAWWWATA_RSRFC4_Q2 ,  NFKAPPAB65_01 ,  E2F1_Q6_01 ,  CAGGTG_E12_Q6 ,  ZID_01 ,  MYOD_Q6 ,  AREB6_01 ,  PITX2_Q2 ,  PAX_Q6 ,  CREL_01 ,  CAGCTG_AP4_Q5 ,  CEBPGAMMA_Q6 ,  LBP1_Q6

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Cytogenetic Map:

11q13.2

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