Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AKAP2 Gene

Aliases for AKAP2 Gene

  • A-Kinase Anchoring Protein 2 2 3 5
  • A Kinase (PRKA) Anchor Protein 2 2 3
  • Protein Kinase A2 2 3
  • AKAP-2 3 4
  • PRKA2 3 4
  • Protein Kinase A Anchoring Protein 2 3
  • Protein Kinase A-Anchoring Protein 2 4
  • A-Kinase Anchor Protein 2 3
  • KIAA0920 4
  • AKAP-KL 4
  • AKAPKL 3
  • MISP2 3

External Ids for AKAP2 Gene

Previous HGNC Symbols for AKAP2 Gene

  • PRKA2

Previous GeneCards Identifiers for AKAP2 Gene

  • GC09P103340
  • GC09P104135
  • GC09U900391
  • GC09P107923
  • GC09P107924
  • GC09P109623
  • GC09P111442
  • GC09P111850
  • GC09P112810
  • GC09P082413
  • GC09P112543

Summaries for AKAP2 Gene

Entrez Gene Summary for AKAP2 Gene

  • The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for AKAP2 Gene

AKAP2 (A-Kinase Anchoring Protein 2) is a Protein Coding gene. Diseases associated with AKAP2 include Kallmann Syndrome. Among its related pathways are Signal transduction_PKA signaling and Proton Pump Inhibitor Pathway, Pharmacodynamics. An important paralog of this gene is PALM2-AKAP2.

UniProtKB/Swiss-Prot for AKAP2 Gene

  • Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP (By similarity).

Gene Wiki entry for AKAP2 Gene

Additional gene information for AKAP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP2 Gene

Genomics for AKAP2 Gene

GeneHancer (GH) Regulatory Elements for AKAP2 Gene

Promoters and enhancers for AKAP2 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
GH09I110047 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 565.9 +1.2 1159 5.3 HDGF ZNF133 SIN3A ZNF2 GLIS2 ATF7 FOS RUNX3 SP3 JUNB AKAP2 GC09M110097 PALM2-AKAP2
GH09I110122 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 559.1 +79.2 79185 10.3 PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 YBX1 ZNF48 ETS1 AKAP2 GC09M110097 LOC105376217 PALM2-AKAP2
GH09I109779 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 9.2 -267.3 -267272 3.6 ZSCAN4 SIN3A RAD21 YY1 ZNF335 GLIS2 SCRT2 ZNF518A ZFP69B GLIS1 PALM2-AKAP2 AKAP2 PALM2 GC09M110025
GH09I109965 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -80.1 -80117 5.7 HDGF BMI1 BATF IRF4 RAD21 ZNF207 ATF7 ETV6 BCLAF1 IKZF2 AKAP2 PALM2-AKAP2 PALM2 GC09M110025
GH09I110250 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.2 +206.8 206794 9 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 TXN AKAP2 C9orf152
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AKAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKAP2 gene promoter:

Genomic Locations for AKAP2 Gene

Genomic Locations for AKAP2 Gene
chr9:110,048,598-110,172,512
(GRCh38/hg38)
Size:
123,915 bases
Orientation:
Plus strand
chr9:112,542,769-112,934,792
(GRCh37/hg19)

Genomic View for AKAP2 Gene

Genes around AKAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP2 Gene

Proteins for AKAP2 Gene

  • Protein details for AKAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2D5-AKAP2_HUMAN
    Recommended name:
    A-kinase anchor protein 2
    Protein Accession:
    Q9Y2D5
    Secondary Accessions:
    • B1ALX9
    • B2RTU4
    • B3KQ00
    • B4DTZ2
    • B7ZW07
    • B9EJB5
    • Q9UG26

    Protein attributes for AKAP2 Gene

    Size:
    859 amino acids
    Molecular mass:
    94661 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76764.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AKAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKAP2 Gene

Post-translational modifications for AKAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKAP2 Gene

No data available for DME Specific Peptides for AKAP2 Gene

Domains & Families for AKAP2 Gene

Gene Families for AKAP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AKAP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKAP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2D5

UniProtKB/Swiss-Prot:

AKAP2_HUMAN :
  • The RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
Domain:
  • The RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
genes like me logo Genes that share domains with AKAP2: view

Function for AKAP2 Gene

Molecular function for AKAP2 Gene

GENATLAS Biochemistry:
A kinase,scaffold protein (PRKA regulatory subunit RIIA) anchor protein 2
UniProtKB/Swiss-Prot Function:
Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP (By similarity).

Phenotypes From GWAS Catalog for AKAP2 Gene

Phenotypes for AKAP2 Gene

genes like me logo Genes that share phenotypes with AKAP2: view

miRNA for AKAP2 Gene

miRTarBase miRNAs that target AKAP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AKAP2 Gene

Localization for AKAP2 Gene

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 AKAP2 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for AKAP2 Gene

Pathways & Interactions for AKAP2 Gene

genes like me logo Genes that share pathways with AKAP2: view

Pathways by source for AKAP2 Gene

1 BioSystems pathway for AKAP2 Gene
1 PharmGKB pathway for AKAP2 Gene
1 GeneGo (Thomson Reuters) pathway for AKAP2 Gene

Interacting Proteins for AKAP2 Gene

Gene Ontology (GO) - Biological Process for AKAP2 Gene

None

No data available for SIGNOR curated interactions for AKAP2 Gene

Drugs & Compounds for AKAP2 Gene

(1) Drugs for AKAP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
genes like me logo Genes that share compounds with AKAP2: view

Transcripts for AKAP2 Gene

Unigene Clusters for AKAP2 Gene

A kinase (PRKA) anchor protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP2 Gene

No ASD Table

Relevant External Links for AKAP2 Gene

GeneLoc Exon Structure for
AKAP2
ECgene alternative splicing isoforms for
AKAP2

Expression for AKAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AKAP2 Gene

Protein differential expression in normal tissues from HIPED for AKAP2 Gene

This gene is overexpressed in Bone marrow stromal cell (25.7) and Lung (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AKAP2 Gene



Protein tissue co-expression partners for AKAP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AKAP2 Gene:

AKAP2

SOURCE GeneReport for Unigene cluster for AKAP2 Gene:

Hs.591908

Evidence on tissue expression from TISSUES for AKAP2 Gene

  • Nervous system(3.9)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with AKAP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKAP2 Gene

Orthologs for AKAP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKAP2 33
  • 99.02 (n)
-- 34
  • 96 (a)
ManyToMany
PALM2 34
  • 38 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 88 (a)
ManyToMany
PALM2 34
  • 37 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia PALM2 34
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Akap2 33
  • 83.63 (n)
mouse
(Mus musculus)
Mammalia Akap2 33 16
  • 83.41 (n)
Gm20459 34
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP2 34
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AKAP2 34
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves AKAP2 33 34
  • 67.35 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia akap2 33
  • 56.92 (n)
Str.15035 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2612 33
zebrafish
(Danio rerio)
Actinopterygii akap2 33
  • 57.39 (n)
palm2 34
  • 39 (a)
OneToMany
Species where no ortholog for AKAP2 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AKAP2 Gene

ENSEMBL:
Gene Tree for AKAP2 (if available)
TreeFam:
Gene Tree for AKAP2 (if available)

Paralogs for AKAP2 Gene

Paralogs for AKAP2 Gene

genes like me logo Genes that share paralogs with AKAP2: view

Variants for AKAP2 Gene

Sequence variations from dbSNP and Humsavar for AKAP2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs193920924 uncertain-significance, Malignant tumor of prostate 110,136,169(+) G/A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, stop_gained
rs1000007811 -- 110,107,670(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000051006 -- 110,134,438(+) T/C intron_variant
rs1000109727 -- 110,127,659(+) G/A intron_variant
rs1000168886 -- 110,141,291(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AKAP2 Gene

Variant ID Type Subtype PubMed ID
dgv494n21 CNV gain 19592680
esv2096560 CNV deletion 18987734
esv2195369 CNV deletion 18987734
esv2501710 CNV deletion 19546169
esv2619523 CNV deletion 19546169
esv2658904 CNV deletion 23128226
esv2672512 CNV deletion 23128226
esv2738920 CNV deletion 23290073
esv2752274 CNV gain 17911159
esv28884 CNV loss 19812545
esv3309092 CNV mobile element insertion 20981092
esv3413070 CNV insertion 20981092
esv3440538 CNV insertion 20981092
esv3573350 CNV loss 25503493
esv3621448 CNV gain 21293372
esv3621449 CNV gain 21293372
esv3621452 CNV loss 21293372
esv3621453 CNV gain 21293372
esv3621456 CNV gain 21293372
nsv1040651 CNV gain 25217958
nsv1043494 CNV gain 25217958
nsv1117903 CNV deletion 24896259
nsv1132219 CNV deletion 24896259
nsv1148299 CNV deletion 26484159
nsv1150859 CNV deletion 26484159
nsv466480 CNV loss 19166990
nsv466481 CNV gain 19166990
nsv471314 CNV loss 18288195
nsv471316 CNV gain 18288195
nsv476870 CNV novel sequence insertion 20440878
nsv515562 CNV gain 19592680
nsv524745 CNV gain 19592680
nsv615150 CNV loss 21841781
nsv615151 CNV gain 21841781

Variation tolerance for AKAP2 Gene

Residual Variation Intolerance Score: 84.9% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKAP2 Gene

Human Gene Mutation Database (HGMD)
AKAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP2 Gene

Disorders for AKAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AKAP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
kallmann syndrome
  • familial hypogonadism with anosmia
- elite association - COSMIC cancer census association via MalaCards
Search AKAP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AKAP2

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 AKAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKAP2 Gene

Publications for AKAP2 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim JJ … Lee JK (Journal of human genetics 2010) 3 44 58
  3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 44 58
  4. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PMID: 18649358) Ng D … Taylor PR (International journal of cancer 2008) 3 44 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for AKAP2 Gene

Sources for AKAP2 Gene

Content
Loading form....