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Aliases for AKAP12 Gene

Aliases for AKAP12 Gene

  • A-Kinase Anchoring Protein 12 2 3 5
  • A Kinase (PRKA) Anchor Protein 12 2 3
  • Src-Suppressed C Kinase Substrate 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
  • A-Kinase Anchor Protein 12 3
  • 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 and Juvenile Myelomonocytic Leukemia. Among its related pathways are Activation of cAMP-Dependent PKA and Signal transduction_PKA signaling. Gene Ontology (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

Additional gene information for AKAP12 Gene

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

Genomics for AKAP12 Gene

GeneHancer (GH) Regulatory Elements for AKAP12 Gene

Promoters and enhancers for AKAP12 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J151323 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 655.5 +85.8 85766 4.4 FOXA2 ARID4B DMAP1 ZNF2 ZNF48 GTF3C2 GLIS2 ARID2 ZNF143 RUNX3 AKAP12 HSPA8P15 ZBTB2 ENSG00000232290 RMND1 RN7SKP268 GC06P151355 PIR45449
GH06J151239 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +1.2 1215 3.8 SIN3A FEZF1 YY1 GLIS2 ZNF213 ZNF416 KLF7 ZNF548 KLF13 SP3 AKAP12 HSPA8P15 ZBTB2 RNU6-300P ENSG00000231883 RNU6-1247P
GH06J151341 Promoter 0.5 EPDnew 650.1 +101.7 101688 0.1 AKAP12 GC06P151355 PIR45449 RN7SKP268
GH06J150408 Promoter 0.5 EPDnew 650 -831.7 -831734 0.1 AKAP12 SSR1P1 LOC100420304
GH06J150864 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 -373.5 -373538 4.1 HDGF CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 MTHFD1L ENSG00000231883 ENSG00000219298 RPS12P11 ENSG00000235972 PHBP1 AKAP12 LOC100240714 RAET1G ARL4AP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AKAP12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKAP12 gene promoter:

Genomic Locations for AKAP12 Gene

Genomic Locations for AKAP12 Gene
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

Post-translational modifications for AKAP12 Gene

  • Ubiquitination at Lys298, Lys182, and Lys177
  • 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

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

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.
genes like me logo Genes that share domains with AKAP12: view

Function for AKAP12 Gene

Molecular function for AKAP12 Gene

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).
GENATLAS Biochemistry:
A kinase (PRKA regulatory subunits PRKC and RIIA) anchor protein 12,expressed in endothelial cells and several adherent cells

Phenotypes From GWAS Catalog for AKAP12 Gene

Gene Ontology (GO) - Molecular Function for AKAP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20029029
GO:0008179 adenylate cyclase binding IPI 17081159
GO:0051018 protein kinase A binding IEA,TAS --
genes like me logo Genes that share ontologies with AKAP12: view
genes like me logo Genes that share phenotypes with AKAP12: view

Animal Models for AKAP12 Gene

MGI Knock Outs for AKAP12:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKAP12 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKAP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10858453
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with AKAP12: view

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:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS 10858453
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IMP 17081159
GO:0010738 regulation of protein kinase A signaling 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for AKAP12 Gene

Protein tissue co-expression partners for AKAP12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AKAP12 Gene:


SOURCE GeneReport for Unigene cluster for AKAP12 Gene:


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.

Evidence on tissue expression from TISSUES for AKAP12 Gene

  • Nervous system(4.8)
  • Heart(4.5)
  • Liver(4.5)
  • Eye(3.6)
  • Intestine(2.6)
  • Lung(2.6)
  • Adrenal gland(2.4)
  • Kidney(2.4)
  • Gall bladder(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with AKAP12: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia AKAP12 34 33
  • 99.08 (n)
(Canis familiaris)
Mammalia AKAP12 34 33
  • 76.88 (n)
(Bos Taurus)
Mammalia AKAP12 34 33
  • 73.67 (n)
(Rattus norvegicus)
Mammalia Akap12 33
  • 71.37 (n)
(Mus musculus)
Mammalia Akap12 16 34 33
  • 71.02 (n)
(Monodelphis domestica)
Mammalia AKAP12 34
  • 47 (a)
(Ornithorhynchus anatinus)
Mammalia AKAP12 34
  • 44 (a)
(Gallus gallus)
Aves AKAP12 34
  • 31 (a)
(Anolis carolinensis)
Reptilia AKAP12 34
  • 45 (a)
African clawed frog
(Xenopus laevis)
Amphibia gl 33
(Danio rerio)
Actinopterygii akap12a 34
  • 11 (a)
Species where no ortholog for AKAP12 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for AKAP12: view image

Paralogs for AKAP12 Gene

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

  • Q86TJ9_HUMAN
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 Variation AA Info Type
rs552053449 A colorectal cancer sample 151,349,109(+) G/A coding_sequence_variant, missense_variant
rs1000004896 -- 151,265,344(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000057558 -- 151,281,855(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000071738 -- 151,264,022(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000077795 -- 151,275,985(+) G/A genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1163e199 CNV deletion 23128226
dgv6163n100 CNV loss 25217958
esv2410237 CNV deletion 18987734
esv2664668 CNV deletion 23128226
esv2732897 CNV deletion 23290073
esv2732898 CNV deletion 23290073
esv3540646 CNV deletion 23714750
esv3611257 CNV loss 21293372
esv3611258 CNV loss 21293372
esv3611260 CNV loss 21293372
esv3611261 CNV loss 21293372
esv3611263 CNV loss 21293372
esv3890965 CNV loss 25118596
nsv1021285 CNV gain 25217958
nsv349261 CNV deletion 16902084
nsv518240 CNV loss 19592680
nsv519279 CNV loss 19592680
nsv521795 CNV loss 19592680
nsv5541 CNV insertion 18451855
nsv604888 CNV loss 21841781

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)

Additional Variant Information for AKAP12 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP12 Gene

Disorders for AKAP12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AKAP12 Gene - From: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for AKAP12

Genetic Association Database
Human Genome Epidemiology 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 JB … Scott JD (Current biology : CB 1997) 2 3 4 58
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  4. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T … Yamada Y (International journal of molecular medicine 2009) 3 44 58
  5. G-protein-coupled receptor-associated A-kinase anchoring proteins AKAP5 and AKAP12: differential trafficking and distribution. (PMID: 18950703) Chen MH … Malbon CC (Cellular signalling 2009) 3 22 58

Products for AKAP12 Gene

Sources for AKAP12 Gene

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