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Gene : ACTL7B Homo sapiens

Name  ? actin like 7B Cytological Location  9q31.3
Brief Description  actin like 7B
description  The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc004bdi.4,
  • Tact1,
  • ACTL7B,
  • OTTHUMG00000020462,
  • NM_006686,
  • Tact1,
  • HGNC:162,
  • BC033789
  • identifiers:
  • 10880,
  • ENSG00000148156,
  • ACTL7B

Genome feature

Region: gene ? Length: 1408  
Location: 9:108854588-108855995 reverse strand Cyto location: 9q31.3


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Function

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0 Pathways

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

0 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

Gene --> GO terms.

 

Other

0 Pathways

10 SN Ps

5 Cross References

14 Data Sets

40 Homologues

0 Located Features

90 Rna Seq Results