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Gene : AKAP12 Homo sapiens

Name  ? A-kinase anchoring protein 12 Cytological Location  6q25.1
Brief Description  A-kinase anchoring protein 12
description  The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:370,
  • AKAP250,
  • SSeCKS,
  • AKAP250,
  • OTTHUMG00000015833,
  • uc011eep.4,
  • A kinase (PRKA) anchor protein 12,
  • A kinase (PRKA) anchor protein (gravin) 12,
  • AKAP12,
  • U81607,
  • NM_005100,
  • gravin,
  • Src-Suppressed C Kinase Substrate,
  • SSeCKS
  • identifiers:
  • 9590,
  • ENSG00000131016,
  • AKAP12

Genome feature

Region: gene ? Length: 118745  
Location: 6:151239815-151358559 Cyto location: 6q25.1


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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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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

37 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results