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Aliases for AKAP12 Gene

Aliases for AKAP12 Gene

  • A-Kinase Anchoring Protein 12 2 3 5
  • Src-Suppressed C Kinase Substrate 2 3
  • A Kinase (PRKA) Anchor Protein 12 2 3
  • AKAP 250 3 4
  • AKAP250 3 4
  • Gravin 2 4
  • A Kinase (PRKA) Anchor Protein (Gravin) 12 2
  • Myasthenia Gravis Autoantigen Gravin 3
  • A-Kinase Anchor Protein, 250kDa 3
  • A-Kinase Anchor Protein 250 KDa 4
  • Kinase Scaffold Protein Gravin 3
  • Myasthenia Gravis Autoantigen 4
  • AKAP-12 4
  • SSeCKS 3

External Ids for AKAP12 Gene

Previous GeneCards Identifiers for AKAP12 Gene

  • GC06P151122
  • GC06P151456
  • GC06P151592
  • GC06P151653
  • GC06P149123
  • GC06P151561

Summaries for AKAP12 Gene

Entrez Gene Summary for AKAP12 Gene

  • 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]

GeneCards Summary for AKAP12 Gene

AKAP12 (A-Kinase Anchoring Protein 12) is a Protein Coding gene. Diseases associated with AKAP12 include Myasthenia Gravis. Among its related pathways are Activation of cAMP-Dependent PKA and G Protein Signaling Pathways. GO annotations related to this gene include protein kinase A binding and adenylate cyclase binding.

UniProtKB/Swiss-Prot for AKAP12 Gene

  • Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC).

Gene Wiki entry for AKAP12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP12 Gene

Genomics for AKAP12 Gene

Regulatory Elements for AKAP12 Gene

Enhancers for AKAP12 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AKAP12 on UCSC Golden Path with GeneCards custom track

Promoters for AKAP12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AKAP12 on UCSC Golden Path with GeneCards custom track

Genomic Location for AKAP12 Gene

151,239,999 bp from pter
151,358,559 bp from pter
118,561 bases
Plus strand

Genomic View for AKAP12 Gene

Genes around AKAP12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP12 Gene

Proteins for AKAP12 Gene

  • Protein details for AKAP12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    A-kinase anchor protein 12
    Protein Accession:
    Secondary Accessions:
    • O00310
    • O00498
    • Q4LE68
    • Q5SZ80
    • Q5TGN1
    • Q68D82
    • Q99970

    Protein attributes for AKAP12 Gene

    1782 amino acids
    Molecular mass:
    191482 Da
    Quaternary structure:
    • Binds to dimeric RII-alpha regulatory subunit of PKC.
    • Antibodies against the C-terminal of gravin can be produced by patients with myasthenia gravis (MG).
    • Sequence=BAE06085.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AKAP12 Gene


neXtProt entry for AKAP12 Gene

Proteomics data for AKAP12 Gene at MOPED

Post-translational modifications for AKAP12 Gene

  • Ubiquitination at Lys 177, Lys 182, and Lys 298
  • Modification sites at PhosphoSitePlus

Other Protein References for AKAP12 Gene

No data available for DME Specific Peptides for AKAP12 Gene

Domains & Families for AKAP12 Gene

Gene Families for AKAP12 Gene

Protein Domains for AKAP12 Gene

Suggested Antigen Peptide Sequences for AKAP12 Gene

Graphical View of Domain Structure for InterPro Entry



  • Polybasic regions located between residues 266 and 557 are involved in binding PKC.
  • Polybasic regions located between residues 266 and 557 are involved in binding PKC.
  • Contains 3 AKAP domains.
genes like me logo Genes that share domains with AKAP12: view

Function for AKAP12 Gene

Molecular function for AKAP12 Gene

GENATLAS Biochemistry:
A kinase (PRKA regulatory subunits PRKC and RIIA) anchor protein 12,expressed in endothelial cells and several adherent cells
UniProtKB/Swiss-Prot Function:
Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC).
UniProtKB/Swiss-Prot Induction:
Activated by lysophosphatidylcholine (lysoPC).
genes like me logo Genes that share phenotypes with AKAP12: view

Animal Models for AKAP12 Gene

MGI Knock Outs for AKAP12:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKAP12 Gene

Localization for AKAP12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP12 Gene

Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Membrane; Lipid-anchor. Note=May be part of the cortical cytoskeleton.

Subcellular locations from

Jensen Localization Image for AKAP12 Gene COMPARTMENTS Subcellular localization image for AKAP12 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 4
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for AKAP12 Gene

Pathways & Interactions for AKAP12 Gene

genes like me logo Genes that share pathways with AKAP12: view

Pathways by source for AKAP12 Gene

1 BioSystems pathway for AKAP12 Gene
1 GeneGo (Thomson Reuters) pathway for AKAP12 Gene

Gene Ontology (GO) - Biological Process for AKAP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0010739 positive regulation of protein kinase A signaling IMP 17081159
GO:0030819 positive regulation of cAMP biosynthetic process IMP 17081159
genes like me logo Genes that share ontologies with AKAP12: view

No data available for SIGNOR curated interactions for AKAP12 Gene

Drugs & Compounds for AKAP12 Gene

(1) Drugs for AKAP12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AKAP12: view

Transcripts for AKAP12 Gene

Unigene Clusters for AKAP12 Gene

A kinase (PRKA) anchor protein 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP12 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b
SP1: - - - - -
SP2: - - - -
SP4: - - - - - - -
SP5: -

Relevant External Links for AKAP12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AKAP12 Gene

mRNA expression in normal human tissues for AKAP12 Gene

Protein differential expression in normal tissues from HIPED for AKAP12 Gene

This gene is overexpressed in Amniocyte (12.1), Ovary (11.2), and Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AKAP12 Gene

SOURCE GeneReport for Unigene cluster for AKAP12 Gene Hs.371240

mRNA Expression by UniProt/SwissProt for AKAP12 Gene

Tissue specificity: Expressed in endothelial cells, cultured fibroblasts and osteosarcoma, but not in platelets, leukocytes, monocytic cell lines or peripherical blood cells.
genes like me logo Genes that share expression patterns with AKAP12: view

Protein tissue co-expression partners for AKAP12 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for AKAP12 Gene

Orthologs for AKAP12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKAP12 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AKAP12 35
  • 73.67 (n)
  • 65.99 (a)
AKAP12 36
  • 65 (a)
(Canis familiaris)
Mammalia AKAP12 35
  • 76.88 (n)
  • 68.91 (a)
AKAP12 36
  • 68 (a)
(Mus musculus)
Mammalia Akap12 35
  • 71.02 (n)
  • 61.03 (a)
Akap12 16
Akap12 36
  • 59 (a)
(Pan troglodytes)
Mammalia AKAP12 35
  • 99.08 (n)
  • 98.62 (a)
AKAP12 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Akap12 35
  • 71.37 (n)
  • 62.02 (a)
(Monodelphis domestica)
Mammalia AKAP12 36
  • 47 (a)
(Ornithorhynchus anatinus)
Mammalia AKAP12 36
  • 44 (a)
(Gallus gallus)
Aves AKAP12 36
  • 31 (a)
(Anolis carolinensis)
Reptilia AKAP12 36
  • 45 (a)
African clawed frog
(Xenopus laevis)
Amphibia gl 35
(Danio rerio)
Actinopterygii akap12a 36
  • 11 (a)
Species with no ortholog for AKAP12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AKAP12 Gene

Gene Tree for AKAP12 (if available)
Gene Tree for AKAP12 (if available)

Paralogs for AKAP12 Gene

(1) SIMAP similar genes for AKAP12 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AKAP12: view

No data available for Paralogs for AKAP12 Gene

Variants for AKAP12 Gene

Sequence variations from dbSNP and Humsavar for AKAP12 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs10872670 - 151,348,740(+) TGAGC(A/G)AAAGA reference, missense
rs3734799 - 151,349,037(-) GTCCT(G/T)GTGGT reference, missense
rs13212161 - 151,351,150(+) GACAG(A/G)ACCTC reference, missense
rs3734797 - 151,351,677(-) ATCTA(C/T)TTTCA reference, missense
rs9478198 - 151,352,278(+) CAGTC(G/T)GGAAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AKAP12 Gene

Variant ID Type Subtype PubMed ID
esv2664668 CNV Deletion 23128226
dgv1163e199 CNV Deletion 23128226
nsv521795 CNV Loss 19592680
nsv519279 CNV Loss 19592680
esv2732897 CNV Deletion 23290073
nsv349261 CNV Loss 16902084
esv2410237 CNV Deletion 18987734
esv2732898 CNV Deletion 23290073
nsv5541 CNV Insertion 18451855
nsv518240 CNV Loss 19592680

Variation tolerance for AKAP12 Gene

Residual Variation Intolerance Score: 92.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.58; 93.05% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for AKAP12 Gene

Disorders for AKAP12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AKAP12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myasthenia gravis
  • mg
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for AKAP12

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AKAP12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKAP12 Gene

Publications for AKAP12 Gene

  1. Gravin, an autoantigen recognized by serum from myasthenia gravis patients, is a kinase scaffold protein. (PMID: 9000000) Nauert J.B. … Scott J.D. (Curr. Biol. 1997) 2 3 4 67
  2. G-protein-coupled receptor-associated A-kinase anchoring proteins AKAP5 and AKAP12: differential trafficking and distribution. (PMID: 18950703) Chen M.H. … Malbon C.C. (Cell. Signal. 2009) 3 23
  3. Hypermethylation of the AKAP12 promoter is a biomarker of Barrett's-associated esophageal neoplastic progression. (PMID: 18199717) Jin Z. … Meltzer S.J. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 23
  4. AKAP12 in astrocytes induces barrier functions in human endothelial cells through protein kinase Czeta. (PMID: 18397319) Choi Y.K. … Kim K.W. (FEBS J. 2008) 3 23
  5. A-kinase anchoring protein 12 regulates the completion of cytokinesis. (PMID: 18554502) Choi M.C. … Bang Y.J. (Biochem. Biophys. Res. Commun. 2008) 3 23

Products for AKAP12 Gene

Sources for AKAP12 Gene