Aliases for AKAP2 Gene

Aliases for AKAP2 Gene

  • A-Kinase Anchoring Protein 2 2
  • KIAA0920 2 4
  • AKAP-KL 2 4
  • Protein Kinase A-Anchoring Protein 2 4
  • A Kinase (PRKA) Anchor Protein 2 2
  • A-Kinase Anchor Protein 2 4
  • Protein Kinase A2 2
  • DKFZp564L0716 2
  • AKAP-2 4
  • MISP2 2
  • PRKA2 4

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
  • GC09P110048

Summaries for AKAP2 Gene

GeneCards Summary for AKAP2 Gene

AKAP2 (A-Kinase Anchoring Protein 2) is a Protein Coding gene. Diseases associated with AKAP2 include Kallmann Syndrome.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for AKAP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKAP2 Gene

Genomics for AKAP2 Gene

GeneHancer (GH) Regulatory Elements Pubs


Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKAP2

Top Transcription factor binding sites by QIAGEN in the AKAP2 gene promoter:
  • E47
  • ER-alpha
  • FOXO4
  • Hand1
  • IRF-7A
  • NRF-2
  • Pax-6
  • POU2F1
  • POU2F1a
  • RORalpha2

Genomic Locations for AKAP2 Gene

No location information available

Genomic View for AKAP2 Gene


Cytogenetic band:

No data available for 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};
    Miscellaneous:
    • [Isoform 3]: Based on a naturally occurring readthrough transcript which produces a PALM2-AKAP2 fusion protein.
    • [Isoform 4]: Based on a naturally occurring readthrough transcript which produces a PALM2-AKAP2 fusion protein.

    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

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

GenScript: Design optimal peptide antigens:
  • Protein kinase A-anchoring protein 2 (AKAP2_HUMAN)
  • A kinase (PRKA) anchor protein 2 (B1ALY1_HUMAN)

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

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).
GENATLAS Biochemistry:
A kinase,scaffold protein (PRKA regulatory subunit RIIA) anchor protein 2

Phenotypes From GWAS Catalog for AKAP2 Gene

Animal Model Products

CRISPR Products

miRNA for AKAP2 Gene

miRTarBase miRNAs that target AKAP2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKAP2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

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

PathCards logo

SuperPathways for AKAP2 Gene

No Data Available

Interacting Proteins for AKAP2 Gene

Gene Ontology (GO) - Biological Process for AKAP2 Gene

None

No data available for Pathways by source and 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKAP2

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

No ASD Table

No data available for mRNA/cDNA for AKAP2 Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKAP2

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKAP2 Gene

Orthologs for AKAP2 Gene

No data available for Orthologs and Evolution for AKAP2 Gene

Paralogs for AKAP2 Gene

No data available for Paralogs for AKAP2 Gene

Variants for AKAP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKAP2 Gene

SNP ID Clinical significance and condition Chr pos Variation AA Info Type
rs914358 - p.Leu561Ser

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 and Additional dbSNP identifiers (rs#s) for AKAP2 Gene

Disorders for AKAP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
kallmann syndrome
  • hypogonadotropic hypogonadism and 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)
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 4
  2. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4
  3. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4
  4. Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli. (PMID: 25114211) Impens F … Ribet D (Proceedings of the National Academy of Sciences of the United States of America 2014) 4
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4

Products for AKAP2 Gene

  • Biorbyt antibodies for AKAP2

Sources for AKAP2 Gene