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Gene : ACTB Homo sapiens

Name  ? actin beta Cytological Location  7p22.1
Brief Description  actin beta
description  This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
  • synonyms:
  • ACTB,
  • β-actin,
  • BRWS1,
  • M28424,
  • uc003sot.5,
  • OTTHUMG00000023268,
  • NM_001101,
  • PS1TP5BP1,
  • HGNC:132
  • identifiers:
  • 60,
  • ENSG00000075624,
  • ACTB

Genome feature

Region: gene ? Length: 3564  
Location: 7:5527146-5530709 reverse strand Cyto location: 7p22.1


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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.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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

8 SN Ps

5 Cross References

20 Data Sets

32 Homologues

0 Located Features

90 Rna Seq Results