AKAP9 Gene (Protein Coding)

A-Kinase Anchoring Protein 9

GC07P091940
GIFtS:
43
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. Alternate splicing of this gene results in at least two isoforms that localize to the cen... See more...

Aliases for AKAP9 Gene

Aliases for AKAP9 Gene

  • A-Kinase Anchoring Protein 9 2 3 5
  • Centrosome- And Golgi-Localized Protein Kinase N-Associated Protein 2 3
  • Centrosome- And Golgi-Localized PKN-Associated Protein 3 4
  • Protein Phosphatase 1, Regulatory Subunit 45 2 3
  • Protein Kinase A Anchoring Protein 9 2 3
  • A Kinase (PRKA) Anchor Protein 9 2 3
  • A-Kinase Anchor Protein 350 KDa 3 4
  • A-Kinase Anchor Protein 450 KDa 3 4
  • A-Kinase Anchor Protein 9 3 4
  • AKAP9-BRAF Fusion Protein 2 3
  • AKAP 120-Like Protein 3 4
  • Protein Hyperion 3 4
  • Protein Yotiao 3 4
  • AKAP350 3 4
  • AKAP450 3 4
  • AKAP-9 3 4
  • CG-NAP 3 4
  • PRKA9 3 4
  • A Kinase (PRKA) Anchor Protein (Yotiao) 9 3
  • Protein Kinase A-Anchoring Protein 9 4
  • A-Kinase Anchor Protein, 350kDa 2
  • A-Kinase Anchoring Protein 450 2
  • Kinase N-Associated Protein 3
  • AKAP120-Like Protein 2
  • MU-RMS-40.16A 3
  • HgAKAP 350 4
  • HYPERION 3
  • AKAP 350 4
  • AKAP 450 4
  • KIAA0803 4
  • PPP1R45 3
  • YOTIAO 3
  • Yotiao 2
  • LQT11 3

External Ids for AKAP9 Gene

Previous GeneCards Identifiers for AKAP9 Gene

  • GC07P090105
  • GC07P091168
  • GC07P091182
  • GC07P091214
  • GC07P091408
  • GC07P091570
  • GC07P086177

Summaries for AKAP9 Gene

Entrez Gene Summary for AKAP9 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. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]

GeneCards Summary for AKAP9 Gene

AKAP9 (A-Kinase Anchoring Protein 9) is a Protein Coding gene. Diseases associated with AKAP9 include Long Qt Syndrome 11 and Long Qt Syndrome 1. Among its related pathways are RET signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and ion channel binding. An important paralog of this gene is PCNT.

UniProtKB/Swiss-Prot Summary for AKAP9 Gene

  • Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697).
  • Isoform 4: Associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations.

Gene Wiki entry for AKAP9 Gene

Additional gene information for AKAP9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKAP9 Gene

Genomics for AKAP9 Gene

GeneHancer (GH) Regulatory Elements for AKAP9 Gene

Promoters and enhancers for AKAP9 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
GH07J091939 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.6 634 3.8 MLX RBPJ POLR2A NR2F1 CREB1 MYC CC2D1A ELF1 HLF L3MBTL2 AKAP9 lnc-MTERF1-8 CYP51A1 FAM133B ANKIB1 piR-49423-251
GH07J092056 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 750.1 +117.2 117161 3.5 HLF MAX PRDM1 CREB1 CTBP1 ZXDB RFX1 PKNOX1 RUNX3 ESRRA AKAP9 CYP51A1 RF00017-6429 piR-35674-483
GH07J091879 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 38.1 -60.5 -60466 2.4 SIN3A SP1 ZBTB40 CTCF SMARCE1 RBPJ POLR2A USF2 ATF1 CREB1 LOC112267986 MTERF1 lnc-AKAP9-1 lnc-MTERF1-1 ENSG00000243107 AKAP9 KRIT1 PEX1 GATAD1 ANKIB1
GH07J092588 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 22.6 +649.0 649033 3.4 ZNF785 SIN3A ZNF24 SP1 CTCF SIX5 ZBTB6 RBPJ POLR2A CTBP1 FAM133B ENSG00000243107 KRIT1 PEX1 ANKIB1 GATAD1 RBM48 CYP51A1-AS1 AKAP9 ERVW-1
GH07J092423 Promoter/Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas 23 +483.8 483789 2 SIN3A CTCF SREBF1 SMARCE1 USF2 ZNF133 MYC CC2D1A L3MBTL2 RAD21 KRIT1 ENSG00000243107 FAM133B PEX1 VPS50 CYP51A1-AS1 GATAD1 MTERF1 AKAP9 ANKIB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKAP9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKAP9 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • NF-Y
  • NF-YA
  • NF-YB
  • Olf-1

Genomic Locations for AKAP9 Gene

Genomic Locations for AKAP9 Gene
chr7:91,940,867-92,110,673
(GRCh38/hg38)
Size:
169,807 bases
Orientation:
Plus strand
chr7:91,570,181-91,739,987
(GRCh37/hg19)
Size:
169,807 bases
Orientation:
Plus strand

Genomic View for AKAP9 Gene

Genes around AKAP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AKAP9 Gene

Proteins for AKAP9 Gene

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  • Protein details for AKAP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99996-AKAP9_HUMAN
    Recommended name:
    A-kinase anchor protein 9
    Protein Accession:
    Q99996
    Secondary Accessions:
    • A4D1F0
    • A4D1F2
    • A4D1F4
    • O14869
    • O43355
    • O94895
    • Q75N20
    • Q9UQH3
    • Q9UQQ4
    • Q9Y6B8
    • Q9Y6Y2

    Protein attributes for AKAP9 Gene

    Size:
    3907 amino acids
    Molecular mass:
    452987 Da
    Quaternary structure:
    • Interacts with the regulatory region of protein kinase N (PKN), protein phosphatase 2A (PP2A), protein phosphatase 1 (PP1) and the immature non-phosphorylated form of PKC epsilon. Interacts with CIP4 and FNBP1 (PubMed:15047863). Interacts with chloride intracellular channel proteins CLIC1, CLIC4 and CLIC5 (PubMed:12163479). CSNK1D binding promotes its centrosomal subcellular location (PubMed:12270714). Interacts with GM130/GOLGA2; leading to recruitment to the Golgi apparatus (PubMed:19242490). Interacts with KCNQ1; targets protein kinase A (PKA) catalytic and regulatory subunits and protein phosphatase 1 (PP1), to the heterodimer KCNQ1-KCNE1 (PubMed:11799244). Interacts with PDE4DIP isoform 13/MMG8/SMYLE; this interaction stabilizes both proteins (PubMed:25217626, PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13, recruits CAMSAP2 to the Golgi apparatus (PubMed:27666745, PubMed:28814570). Forms a pericentrosomal complex with CDK5RAP2, EB1/MAPRE1 and PDE4DIP isoform 13; within this complex, MAPRE1 binding to CDK5RAP2 may be mediated by PDE4DIP (PubMed:29162697). Interacts with MAPRE1 and MAPRE3 (PubMed:28814570). Interacts (via C-terminus) with CAMSAP2; this interaction is much stronger in the presence of PDE4DIP isoform 13/MMG8/SMYLE (PubMed:27666745). Interacts with CAMSAP3 (PubMed:28089391). Interacts (via C-terminus) with the gamma-tubulin ring complex (gamma-TuRC), composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6 (PubMed:27666745).
    SequenceCaution:
    • Sequence=AAB86384.1; Type=Frameshift; Positions=1625; Evidence={ECO:0000305}; Sequence=AAC60380.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for AKAP9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKAP9 Gene

Protein Expression for AKAP9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AKAP9 Gene

  • Ubiquitination at Lys1434
  • Modification sites at PhosphoSitePlus

Other Protein References for AKAP9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AKAP9 Gene

Domains & Families for AKAP9 Gene

Gene Families for AKAP9 Gene

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

Protein Domains for AKAP9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKAP9 Gene

GenScript: Design optimal peptide antigens:
  • A kinase (PRKA) anchor protein (Yotiao) 9 (A4D1E4_HUMAN)
  • Protein yotiao (AKAP9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99996

UniProtKB/Swiss-Prot:

AKAP9_HUMAN :
  • RII-binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
Domain:
  • RII-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 AKAP9: view

Function for AKAP9 Gene

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Molecular function for AKAP9 Gene

UniProtKB/Swiss-Prot Function:
Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697).
UniProtKB/Swiss-Prot Function:
Isoform 4: Associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations.
GENATLAS Biochemistry:
a kinase (PRKA regulatory subunit RIIA) anchor protein 9,abundantly expressed in skeletal muscle and pancreas,also expressed in brain,located in the centrosome,interacting with a splice variant of GRIN1

Phenotypes From GWAS Catalog for AKAP9 Gene

Gene Ontology (GO) - Molecular Function for AKAP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005102 signaling receptor binding TAS 9482789
GO:0005515 protein binding IPI 12163479
GO:0015459 potassium channel regulator activity IMP 16002409
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with AKAP9: view
genes like me logo Genes that share phenotypes with AKAP9: view

Human Phenotype Ontology for AKAP9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for AKAP9 Gene

miRTarBase miRNAs that target AKAP9

Clone Products

  • Addgene plasmids for AKAP9

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AKAP9 Gene

Localization for AKAP9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP9 Gene

Golgi apparatus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Cytoplasmic in parietal cells (PubMed:9915845). Recruited to the Golgi apparatus by GM130/GOLGA2 (PubMed:25657325). Localization at the centrosome versus Golgi apparatus may be cell line-dependent. In SKBr3 and HEK293F cells, exclusively located at the centrosome (PubMed:29162697). In HeLa, MDA-MB231 and RPE-1 cells, detected at the Golgi apparatus (PubMed:25217626, PubMed:29162697). In SK-BR-3 cells, recruited to the centrosome in the presence of CDK5RAP2 (PubMed:29162697). {ECO:0000269 PubMed:25217626, ECO:0000269 PubMed:25657325, ECO:0000269 PubMed:29162697, ECO:0000269 PubMed:9915845}.

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 AKAP9 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Centrosome (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKAP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA 12163479
GO:0005795 Golgi stack IDA,IBA 19242490
GO:0005801 cis-Golgi network IDA 24648492
GO:0005813 centrosome IDA 20096683
genes like me logo Genes that share ontologies with AKAP9: view

Pathways & Interactions for AKAP9 Gene

PathCards logo

SuperPathways for AKAP9 Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Regulation of PLK1 Activity at G2/M Transition
Centrosome maturation
.88
Loss of Nlp from mitotic centrosomes
.88
Loss of proteins required for interphase microtubule organization from the centrosome
.88
Recruitment of mitotic centrosome proteins and complexes
.88
AURKA Activation by TPX2
.85
Regulation of PLK1 Activity at G2/M Transition
.80
Anchoring of the basal body to the plasma membrane
.72
G2/M Transition
.49
Mitotic G2-G2/M phases
.49
3 Post NMDA receptor activation events
Activation of NMDA receptor upon glutamate binding and postsynaptic events
.90
Post NMDA receptor activation events
.90
CREB phosphorylation through the activation of Ras
.78
CREB phosphorylation through the activation of CaMKII
.01
Ras activation uopn Ca2+ infux through NMDA receptor
.01
Unblocking of NMDA receptor, glutamate binding and activation
.01
4 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
Activation of PKA through GPCR
.71
PKA Signaling
.56
5 Cardiac conduction
Cardiac conduction
.70
Muscle contraction
.70
Phase 3 - rapid repolarisation
.01
genes like me logo Genes that share pathways with AKAP9: view

Pathways by source for AKAP9 Gene

1 BioSystems pathway for AKAP9 Gene
5 Qiagen pathways for AKAP9 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • cAMP Pathway
  • Dopamine-DARPP32 Feedback onto cAMP Pathway
  • PKA Signaling

Gene Ontology (GO) - Biological Process for AKAP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0007020 microtubule nucleation IMP 19242490
GO:0007165 signal transduction IEA --
GO:0007194 negative regulation of adenylate cyclase activity IEA --
GO:0007268 chemical synaptic transmission TAS 9482789
genes like me logo Genes that share ontologies with AKAP9: view

No data available for SIGNOR curated interactions for AKAP9 Gene

Drugs & Compounds for AKAP9 Gene

Products:

  1. Drug

(5) Drugs for AKAP9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for AKAP9 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Methyl-D-aspartic acid
  • (R)-2-methylamino-Succinic acid
  • 2-methylamino-Succinic acid
  • Methyl aspartic acid
  • N-Methyl aspartic acid
  • N-Methyl-D-aspartate
 6384-92-5
genes like me logo Genes that share compounds with AKAP9: view

Transcripts for AKAP9 Gene

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mRNA/cDNA for AKAP9 Gene

(4) REFSEQ mRNAs :
(19) Additional mRNA sequences :
(242) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for AKAP9

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - -
SP2: - -
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 25a · 25b ^ 26a · 26b · 26c ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b · 37c ^ 38a · 38b ^ 39 ^ 40a · 40b · 40c ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46 ^ 47a · 47b · 47c ^ 48a · 48b · 48c ^ 49a · 49b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: -

Relevant External Links for AKAP9 Gene

GeneLoc Exon Structure for
AKAP9
ECgene alternative splicing isoforms for
AKAP9

Expression for AKAP9 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AKAP9 Gene

mRNA expression in normal human tissues for AKAP9 Gene
mRNA expression by BioGPS for AKAP9 GenemRNA expression by GTEx for AKAP9 Gene

Protein differential expression in normal tissues from HIPED for AKAP9 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.1) and Placenta (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKAP9 Gene



Protein tissue co-expression partners for AKAP9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AKAP9 Gene:

AKAP9

SOURCE GeneReport for Unigene cluster for AKAP9 Gene:

Hs.651221

mRNA Expression by UniProt/SwissProt for AKAP9 Gene:

Q99996-AKAP9_HUMAN
Tissue specificity: Widely expressed (PubMed:10202149). Isoform 4: Highly expressed in skeletal muscle and in pancreas (PubMed:9482789).

Evidence on tissue expression from TISSUES for AKAP9 Gene

  • Liver(4.7)
  • Nervous system(4.6)
  • Lung(4.3)
  • Stomach(4.2)
  • Heart(2.5)
  • Adrenal gland(2.4)
  • Kidney(2.4)
  • Muscle(2.4)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AKAP9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with AKAP9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AKAP9 Gene

Orthologs for AKAP9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKAP9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AKAP9 33 32
  • 99.56 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia AKAP9 33 32
  • 90.23 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia AKAP9 33 32
  • 88.4 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Akap9 33
  • 71 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia AKAP9 33
  • 66 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia AKAP9 33
  • 42 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AKAP9 33 32
  • 67.33 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia AKAP9 33
  • 55 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia akap9 32
  • 58.71 (n)
Str.14256 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7010 32
zebrafish
(Danio rerio)
 Actinopterygii CABZ01010098.1 33
  • 47 (a)
 OneToMany
CABZ01010103.1 33
  • 41 (a)
 OneToMany
akap9 33
  • 30 (a)
 OneToMany
Dr.9964 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6103 32
Species where no ortholog for AKAP9 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)
  • rat (Rattus norvegicus)
  • 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 AKAP9 Gene

ENSEMBL:
Gene Tree for AKAP9 (if available)
TreeFam:
Gene Tree for AKAP9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKAP9: view image

Paralogs for AKAP9 Gene

Paralogs for AKAP9 Gene

(1) SIMAP similar genes for AKAP9 Gene using alignment to 6 proteins:

  • AKAP9_HUMAN
  • A4D1E4_HUMAN
  • H0Y6Q0_HUMAN
  • H7BYL6_HUMAN
  • H7BZV6_HUMAN
  • Q6PJH3_HUMAN

Pseudogenes.org Pseudogenes for AKAP9 Gene

genes like me logo Genes that share paralogs with AKAP9: view

Variants for AKAP9 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for AKAP9 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000673132 uncertain-significance, Long QT syndrome 92,061,410(+) A/C/G coding_sequence_variant, missense_variant
rs1004449825 likely-benign, Long QT syndrome 92,079,705(+) C/T coding_sequence_variant, synonymous_variant
rs1006205177 uncertain-significance, Long QT syndrome 92,029,986(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs10228334 benign, likely-benign, not specified, Cardiovascular phenotype, Long QT syndrome, Romano-Ward syndrome, Long QT syndrome 11 92,084,658(+) C/T coding_sequence_variant, synonymous_variant
rs10236397 benign, likely-benign, not specified, Cardiovascular phenotype, Long QT syndrome, Romano-Ward syndrome, Long QT syndrome 11 92,062,287(+) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for AKAP9 Gene

Variant ID Type Subtype PubMed ID
esv3571985 CNV loss 25503493
nsv1021101 CNV gain 25217958
nsv1140821 CNV deletion 24896259
nsv5838 CNV deletion 18451855

Variation tolerance for AKAP9 Gene

Residual Variation Intolerance Score: 64.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.20; 97.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKAP9 Gene

Human Gene Mutation Database (HGMD)
AKAP9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAP9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP9 Gene

Disorders for AKAP9 Gene

MalaCards: The human disease database

(10) MalaCards diseases for AKAP9 Gene - From: HGMD, OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 11
  • lqt11
long qt syndrome 1
  • lqt1
long qt syndrome
  • romano-ward syndrome
brugada syndrome 1
  • brgda1
cardiomyopathy, dilated, 1p
  • cmd1p
- elite association - COSMIC cancer census association via MalaCards
Search AKAP9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AKAP9_HUMAN
  • Long QT syndrome 11 (LQT11) [MIM:611820]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:18093912}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AKAP9

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 AKAP9: view

No data available for Genatlas for AKAP9 Gene

Publications for AKAP9 Gene

  1. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. (PMID: 18093912) Chen L … Kass RS (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23 56
  2. AKAP350 at the Golgi apparatus. II. Association of AKAP350 with a novel chloride intracellular channel (CLIC) family member. (PMID: 12163479) Shanks RA … Goldenring JR (The Journal of biological chemistry 2002) 3 4 23 56
  3. Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. (PMID: 11799244) Marx SO … Kass RS (Science (New York, N.Y.) 2002) 3 4 23 56
  4. AKAP350, a multiply spliced protein kinase A-anchoring protein associated with centrosomes. (PMID: 9915845) Schmidt PH … Goldenring JR (The Journal of biological chemistry 1999) 3 4 23 56
  5. Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450. (PMID: 10202149) Witczak O … Orstavik S (The EMBO journal 1999) 3 4 23 56

ExternalLinks

View latest publications for AKAP9 gene in Mastermind

Products for AKAP9 Gene

  • Addgene plasmids for AKAP9

Sources for AKAP9 Gene