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Gene : ARMC5 Homo sapiens

Name  ? armadillo repeat containing 5 Cytological Location  16p11.2
Brief Description  armadillo repeat containing 5
description  This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
  • synonyms:
  • NM_024742,
  • ARMC5,
  • FLJ13063,
  • AY217348,
  • AIMAH2,
  • OTTHUMG00000176618,
  • uc002eca.5,
  • HGNC:25781
  • identifiers:
  • 79798,
  • ENSG00000140691,
  • ARMC5

Genome feature

Region: gene ? Length: 8895  
Location: 16:31458273-31467167 Cyto location: 16p11.2


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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.

Gene --> Overlapping genes.

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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

205 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results