Contents

AKAP12

Protein-coding gene in the species Homo sapiens

AKAP12
Identifiers
Aliases	AKAP12, AKAP250, SSeCKS, A-kinase anchoring protein 12
External IDs	OMIM: 604698; MGI: 1932576; HomoloGene: 3740; GeneCards: AKAP12; OMA:AKAP12 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q25.1 Start 151,239,967 bp[1] End 151,358,559 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 A1 Start 4,216,380 bp[2] End 4,309,470 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pons lateral nuclear group of thalamus spinal ganglia trigeminal ganglion vena cava Pars compacta saphenous vein superior vestibular nucleus pericardium epithelium of colon Top expressed in efferent ductule seminiferous tubule vas deferens stroma of bone marrow external carotid artery left lung lobe spermatid superior cervical ganglion endothelial cell of lymphatic vessel dermis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein kinase A binding protein binding adenylate cyclase binding Cellular component plasma membrane cell cortex cytoskeleton membrane focal adhesion cytoplasm cytosol Schaffer collateral - CA1 synapse neuronal cell body Biological process protein targeting G protein-coupled receptor signaling pathway regulation of protein kinase C signaling signal transduction positive regulation of protein kinase A signaling adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway regulation of protein kinase A signaling modulation of chemical synaptic transmission response to lipopolysaccharide hepatic stellate cell activation negative regulation of vascular permeability response to electrical stimulus positive regulation of nitric-oxide synthase biosynthetic process positive regulation of hepatic stellate cell migration positive regulation of ERK1 and ERK2 cascade cellular response to interleukin-1 cellular response to tumor necrosis factor positive regulation of oligodendrocyte apoptotic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9590 83397 Ensembl ENSG00000131016 ENSMUSG00000038587 UniProt Q02952 Q9WTQ5 RefSeq (mRNA) NM_005100 NM_144497 NM_001370346 NM_031185 RefSeq (protein) NP_005091 NP_653080 NP_001357275 NP_112462 Location (UCSC) Chr 6: 151.24 – 151.36 Mb Chr 10: 4.22 – 4.31 Mb PubMed search [3] [4]
Wikidata
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A-kinase anchor protein 12, aka AKAP250, is an enzyme that in humans is encoded by the AKAP12 gene.^[5][6]

Function[edit]

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 kinase 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.^[6]

Interactions[edit]

AKAP12 has been shown to interact with Beta-2 adrenergic receptor.^[7][8]

References[edit]

External links[edit]

• Human AKAP12 genome location and AKAP12 gene details page in the UCSC Genome Browser.

Further reading[edit]

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.