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 osteosa... See more...

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
  • A-Kinase Anchor Protein 12 3 4
  • 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 and Myasthenic Syndrome, Congenital, 15. 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 Summary 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 , Rfam classification 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
Score
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 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505.5 +85.8 85811 4.4 CTCF ZSCAN5C TCF12 POLR2G USF1 NCOR1 ZIC2 ZNF263 ZNF423 ZBTB26 AKAP12 ZBTB2 ENSG00000232290 RMND1 RF00100-134 piR-57461-219
GH06J151239 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.3 1286 3.9 USF1 ZNF639 ZIC2 REST ZBTB10 ZNF423 GABPA ZBTB26 TRIM28 SAP30 AKAP12 lnc-ZBTB2-5 RNU6-300P ENSG00000231883 RF00017-5872
GH06J151341 Promoter 0.3 EPDnew 500.1 +101.7 101720 0.1 AKAP12 RF01210-345 piR-57461-219
GH06J150408 Promoter 0.3 EPDnew 500 -831.7 -831702 0.1 AKAP12 lnc-IYD-4 SSR1P1 lnc-ULBP3-4
GH06J151087 Enhancer 1.1 Ensembl ENCODE 29.7 -151.5 -151466 2.2 CTCF ZNF639 ZNF354C ZNF623 AFF1 ZNF510 REST HES1 RUNX1 CTBP1 HSPA8P15 AKAP12 ZBTB2 ENSG00000232290 RF00017-5868 piR-35674-460 ENSG00000223598 MTHFD1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKAP12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKAP12

Top Transcription factor binding sites by QIAGEN in the AKAP12 gene promoter:
  • AML1a
  • ATF6
  • GR
  • GR-alpha
  • GR-beta
  • HEN1
  • HFH-1
  • NF-1
  • NF-1/L
  • STAT5A

Genomic Locations for AKAP12 Gene

Genomic Locations for AKAP12 Gene
chr6:151,239,967-151,358,559
(GRCh38/hg38)
Size:
118,593 bases
Orientation:
Plus strand
chr6:151,561,134-151,679,694
(GRCh37/hg19)
Size:
118,561 bases
Orientation:
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:
    Q02952-AKA12_HUMAN
    Recommended name:
    A-kinase anchor protein 12
    Protein Accession:
    Q02952
    Secondary Accessions:
    • O00310
    • O00498
    • Q4LE68
    • Q5SZ80
    • Q5TGN1
    • Q68D82
    • Q99970

    Protein attributes for AKAP12 Gene

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

    Alternative splice isoforms for AKAP12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKAP12 Gene

Post-translational modifications for AKAP12 Gene

  • Ubiquitination at Lys177, Lys182, and Lys298
  • 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

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

Protein Domains for AKAP12 Gene

Blocks:
  • Protein kinase A anchoring domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKAP12 Gene

GenScript: Design optimal peptide antigens:
  • Myasthenia gravis autoantigen (AKA12_HUMAN)
  • AKAP12 protein (Q6NSG9_HUMAN)
  • AKAP12 protein (Q86TJ9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02952

UniProtKB/Swiss-Prot:

AKA12_HUMAN :
  • Polybasic regions located between residues 266 and 557 are involved in binding PKC.
Domain:
  • 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:0005516 calmodulin binding IEA --
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

CRISPR 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

COMPARTMENTS
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
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
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

PathCards logo

SuperPathways for AKAP12 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Signal transduction_PKA signaling
-
3 DAG and IP3 signaling
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
  • Signal transduction_PKA signaling
4 Qiagen pathways for AKAP12 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • cAMP Pathway
  • PKA Signaling

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

mRNA/cDNA for AKAP12 Gene

3 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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: - - - -
SP3:
SP4: - - - - - - -
SP5: -
SP6:
SP7:

Relevant External Links for AKAP12 Gene

GeneLoc Exon Structure for
AKAP12

Expression for AKAP12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKAP12

SOURCE GeneReport for Unigene cluster for AKAP12 Gene:

Hs.371240

mRNA Expression by UniProt/SwissProt for AKAP12 Gene:

Q02952-AKA12_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia AKAP12 31 30
  • 99.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AKAP12 31 30
  • 76.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AKAP12 31 30
  • 73.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Akap12 30
  • 71.37 (n)
mouse
(Mus musculus)
Mammalia Akap12 17 31 30
  • 71.02 (n)
oppossum
(Monodelphis domestica)
Mammalia AKAP12 31
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP12 31
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKAP12 31
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKAP12 31
  • 45 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gl 30
zebrafish
(Danio rerio)
Actinopterygii akap12a 31
  • 11 (a)
OneToOne
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

ENSEMBL:
Gene Tree for AKAP12 (if available)
TreeFam:
Gene Tree for AKAP12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKAP12: view image

Paralogs for AKAP12 Gene

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

  • AKA12_HUMAN
  • Q6NSG9_HUMAN
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKAP12 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
157031 Not Provided: Preeclampsia 151,297,099(+) ATTGACTTGTATGAAA INTRON_VARIANT
rs552053449 A colorectal cancer sample p.Glu240Lys
rs1042069 - p.Ala987Ser
rs10872670 - p.Lys117Glu
rs12201388 - p.Glu1355Lys

Additional dbSNP identifiers (rs#s) for AKAP12 Gene

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)
AKAP12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAP12

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

Disorders for AKAP12 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AKAP12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 54
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41 54
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41 54
  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 41 54
  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 23 54

Products for AKAP12 Gene

Sources for AKAP12 Gene