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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

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

Genomics for AKAP2 Gene

Regulatory Elements for AKAP2 Gene

Enhancers for AKAP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F110047 1.2 FANTOM5 ENCODE 15.9 +1.2 1159 5.3 HDGF PKNOX1 ZNF133 SIN3A ZNF2 GLIS2 GATA2 CBX5 ZNF207 FOS AKAP2 GC09M110097
GH09F109798 1.1 Ensembl ENCODE 11.1 -248.7 -248745 1.9 HDAC1 ESRRA PKNOX1 ZNF316 FOXK2 NCOR1 FOS NFE2 ZNF263 SMARCE1 PALM2 ENSG00000232939 AKAP2 PALM2-AKAP2 GC09M110025
GH09F109751 0.8 Ensembl ENCODE 11.1 -297.1 -297095 0.6 FOXA3 FEZF1 RAD21 PALM2 ENSG00000232939 PALM2-AKAP2 AKAP2
GH09F109745 0.9 Ensembl ENCODE 11.1 -302.8 -302813 1.2 PKNOX1 INSM2 FEZF1 ZIC2 ZNF2 YY1 ZNF600 ZBTB20 BHLHE40 ZBTB8A PALM2 ENSG00000232939 PALM2-AKAP2 AKAP2
GH09F109742 1 Ensembl ENCODE 11.1 -305.5 -305507 0.8 RARA MIXL1 HMG20B SP5 PPARG NFIL3 ETV4 ZNF341 CEBPA KDM1A PALM2 ENSG00000232939 PALM2-AKAP2 AKAP2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AKAP2 on UCSC Golden Path with GeneCards custom track

Promoters for AKAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001311314 1102 3801 HDGF ZNF133 SIN3A ZNF2 GLIS2 GATA2 FOS ZNF263 SP3 JUNB

Genomic Location for AKAP2 Gene

Chromosome:
9
Start:
110,048,598 bp from pter
End:
110,172,512 bp from pter
Size:
123,915 bases
Orientation:
Plus strand

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

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 for AKAP2 Gene

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

Animal Model Products

miRNA for AKAP2 Gene

miRTarBase miRNAs that target AKAP2

Flow Cytometry 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
Jensen Localization Image for AKAP2 Gene COMPARTMENTS Subcellular localization image for AKAP2 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with AKAP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34
  • 99.02 (n)
-- 35
  • 96 (a)
ManyToMany
PALM2 35
  • 38 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 88 (a)
ManyToMany
PALM2 35
  • 37 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia PALM2 35
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Akap2 34
  • 83.63 (n)
mouse
(Mus musculus)
Mammalia Akap2 34 16
  • 83.41 (n)
Gm20459 35
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP2 35
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AKAP2 35
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves AKAP2 34 35
  • 67.35 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia akap2 34
  • 56.92 (n)
Str.15035 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2612 34
zebrafish
(Danio rerio)
Actinopterygii akap2 34
  • 57.39 (n)
palm2 35
  • 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 Sequence Context AA Info Type
rs193920924 Uncertain significance 110,136,169(+) AAAGC(A/G/T)AGGGA reference, missense, stop-gained, utr-variant-5-prime
rs879255366 Benign 110,048,763(+) CGGAG(-/TCTCCTGGACCCCCGGAG)CGGGA intron-variant, cds-indel
rs1009463 -- 110,131,312(+) GCACC(C/T)TAGTT intron-variant
rs1010788 -- 110,128,282(+) AAGAA(C/G)CTCTC intron-variant
rs10114649 -- 110,166,212(+) TATCC(A/G)TCCAA 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)

Relevant External Links for AKAP2 Gene

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

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

Relevant External Links for AKAP2

Genetic Association Database (GAD)
AKAP2
Human Genome Epidemiology (HuGE) Navigator
AKAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKAP2
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 Res. 1999) 2 3 4 64
  2. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim J.J. … Lee J.K. (J. Hum. Genet. 2010) 3 46 64
  3. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PMID: 18649358) Ng D. … Taylor P.R. (Int. J. Cancer 2008) 3 46 64
  4. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira A.R. … Marazita M.L. (Genet. Med. 2008) 3 46 64
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64

Products for AKAP2 Gene

Sources for AKAP2 Gene

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