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
- 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
- Yotiao 2 3
- 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
- A-Kinase Anchor Protein 9 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
- LQT11 3
External Ids for AKAP9 Gene
- HGNC: 379
- Entrez Gene: 10142
- Ensembl: ENSG00000127914
- OMIM: 604001
- UniProtKB: Q99996
Previous GeneCards Identifiers for AKAP9 Gene
- GC07P090105
- GC07P091168
- GC07P091182
- GC07P091214
- GC07P091408
- GC07P091570
- GC07P086177
Summaries 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 Cardiac conduction. Gene Ontology (GO) annotations related to this gene include receptor binding and ion channel binding. An important paralog of this gene is PCNT.
UniProtKB/Swiss-Prot 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). Recruited to the Golgi apparatus by GM130/GOLGA2 and is required for microtubule nucleation at the cis-side of the Golgi apparatus. Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). Forms a complex with PDE4DIP: the complex recruits CAMSAP2 to the Golgi apparatus, leading to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570).
-
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.
Additional gene information for AKAP9 Gene
- Monarch Initiative
- Search for AKAP9 at DataMed
- Search for AKAP9 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP9 Gene
Genomics for AKAP9 Gene
GeneHancer (GH) Regulatory Elements for AKAP9 Gene
Promoters and enhancers for AKAP9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AKAP9 on UCSC Golden Path with GeneCards custom track
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)
Genomic View for AKAP9 Gene
Genes around AKAP9 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q21.2 by Ensembl
- 7q21.2 by Entrez Gene
- 7q21.2 by HGNC
AKAP9 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AKAP9 Gene
Proteins for AKAP9 Gene
-
Protein details for AKAP9 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99996-AKAP9_HUMAN
- Recommended name:
- A-kinase anchor protein 9
- Protein Accession:
- Q99996
- A4D1F0
- A4D1F2
- A4D1F4
- O14869
- O43355
- O94895
- Q75N20
- Q9UQH3
- Q9UQQ4
- Q9Y6B8
- Q9Y6Y2
Protein attributes for AKAP9 Gene
- Size:
- 3911 amino acids
- Molecular mass:
- 453667 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; forming a complex that recruit CAMSAP2 to the Golgi (PubMed:27666745, PubMed:28814570). Interacts with MAPRE1 (PubMed:28814570). Interacts with MAPRE3 (PubMed:28814570). Interacts with CAMSAP2 (PubMed:27666745). Interacts with CAMSAP3 (PubMed:28089391).
- SequenceCaution:
-
- Sequence=AAB86384.1; Type=Frameshift; Positions=1637; Evidence={ECO:0000305}; Sequence=AAC60380.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for AKAP9 Gene
Post-translational modifications for AKAP9 Gene
Other Protein References for AKAP9 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_005742.4
- NP_671714.1
- XP_016867131.1
- XP_016867132.1
- XP_016867133.1
- XP_016867134.1
- XP_016867135.1
- XP_016867136.1
- XP_016867137.1
- XP_016867138.1
- XP_016867139.1
- XP_016867140.1
- XP_016867141.1
- XP_016867142.1
- XP_016867143.1
- XP_016867144.1
- XP_016867145.1
- XP_016867146.1
- XP_016867147.1
- XP_016867148.1
- XP_016867149.1
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AKAP9
- Novus Biologicals Antibodies for AKAP9
-
Abcam antibodies for AKAP9
- Invitrogen Antibodies for AKAP9
- Search GeneTex for Antibodies for AKAP9
-
Santa Cruz Biotechnology (SCBT) Antibodies for AKAP9
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for AKAP9
- Origene Custom Protein Services for AKAP9
- Novus Biologicals proteins for AKAP9
- Search GeneTex for Proteins for AKAP9
Assay Products
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:
Graphical View of Domain Structure for InterPro Entry
Q99996UniProtKB/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.
Function for AKAP9 Gene
Molecular function for AKAP9 Gene
- 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
- 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). Recruited to the Golgi apparatus by GM130/GOLGA2 and is required for microtubule nucleation at the cis-side of the Golgi apparatus. Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). Forms a complex with PDE4DIP: the complex recruits CAMSAP2 to the Golgi apparatus, leading to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570).
- 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.
Phenotypes From GWAS Catalog for AKAP9 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005088 | Ras guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005102 | receptor binding | TAS | 9482789 |
| GO:0005515 | protein binding | IPI | 12163479 |
| GO:0015459 | potassium channel regulator activity | IMP | 16002409 |
Phenotypes for AKAP9 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AKAP9
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AKAP9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AKAP9 gene
- Search ViGene Biosciences for AKAP9
CRISPR Products
-
OriGene CRISPR knockouts for AKAP9
- genomics-online: gRNA clones - Search results for 72 available AKAP9 gene related products
- Overview of 72 available AKAP9 gene related products
- Applied Biological Materials CRISPR for AKAP9
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AKAP9
- GenScript: Design CRISPR guide RNA sequences for AKAP9
miRNA for AKAP9 Gene
- miRTarBase miRNAs that target AKAP9
miRNA Products
- Search ViGene Biosciences for AKAP9
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for AKAP9
- Browse OriGene Inhibitory RNA Products For AKAP9
- genomics-online: shRNA clones - Search results for 72 available AKAP9 gene related products
- Overview of 72 available AKAP9 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AKAP9 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for AKAP9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AKAP9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for AKAP9
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for AKAP9
-
ViGene Biosciences adenoviral particle packaged cDNA for AKAP9 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AKAP9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AKAP9 gene
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. {ECO:0000269 PubMed:9915845}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| plasma membrane | 4 |
| nucleus | 3 |
- Golgi apparatus (4)
- Centrosome (3)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005794 | Golgi apparatus | IDA | 12163479 |
| GO:0005795 | Golgi stack | IDA | 19242490 |
| GO:0005801 | cis-Golgi network | IDA | 24648492 |
| GO:0005813 | centrosome | IDA | 20096683 |
Pathways & Interactions for AKAP9 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Regulation of PLK1 Activity at G2/M Transition |
.49
|
|
| 3 | Post NMDA receptor activation events | ||
| 4 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
| 5 | Cardiac conduction | ||
Pathways by source for AKAP9 Gene
1 BioSystems pathway for AKAP9 Gene
5 Qiagen pathways for AKAP9 Gene
Interacting Proteins for AKAP9 Gene
Selected Interacting proteins:
Q99996-AKAP9_HUMAN
ENSP00000348573
for AKAP9 Gene via
IID
STRING
UniProtKB
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
| GO:0000165 | MAPK cascade | TAS | -- |
| GO:0006810 | transport | TAS | 10390370 |
| GO:0007020 | microtubule nucleation | IMP | 19242490 |
| GO:0007165 | signal transduction | IEA,TAS | 10390370 |
No data available for SIGNOR curated interactions for AKAP9 Gene
Transcripts for AKAP9 Gene
mRNA/cDNA for AKAP9 Gene
- (23) REFSEQ mRNAs :
- (18) Additional mRNA sequences :
- (242) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AKAP9 Gene
CRISPR Products
-
OriGene CRISPR knockouts for AKAP9
- genomics-online: gRNA clones - Search results for 72 available AKAP9 gene related products
- Overview of 72 available AKAP9 gene related products
- Applied Biological Materials CRISPR for AKAP9
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AKAP9
- GenScript: Design CRISPR guide RNA sequences for AKAP9
miRNA Products
- Search ViGene Biosciences for AKAP9
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for AKAP9
- Browse OriGene Inhibitory RNA Products For AKAP9
- genomics-online: shRNA clones - Search results for 72 available AKAP9 gene related products
- Overview of 72 available AKAP9 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AKAP9 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for AKAP9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AKAP9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for AKAP9
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| 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: | - |
Expression 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, PaxDb, MaxQB, and MOPED for AKAP9 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of AKAP9 Gene:
AKAP9SOURCE GeneReport for Unigene cluster for AKAP9 Gene:
Hs.651221mRNA 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
Primer Products
-
OriGene qPCR primer pairs for AKAP9
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AKAP9 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | AKAP9 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | AKAP9 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Akap9 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | AKAP9 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | AKAP9 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AKAP9 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | AKAP9 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | akap9 33 |
|
||
| Str.14256 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7010 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CABZ01010098.1 34 |
|
OneToMany | |
| CABZ01010103.1 34 |
|
OneToMany | |||
| akap9 34 |
|
OneToMany | |||
| Dr.9964 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6103 33 |
|
- 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)
Paralogs for AKAP9 Gene
(1) SIMAP similar genes for AKAP9 Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for AKAP9 Gene
Variants for AKAP9 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000673132 | uncertain-significance, Long QT syndrome | 92,061,410(+) | A/C | coding_sequence_variant, missense_variant | |
| rs10228334 | benign, likely-benign, not specified, Cardiovascular phenotype, Long QT syndrome, Romano-Ward syndrome | 92,084,658(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs10236397 | benign, likely-benign, not specified, Cardiovascular phenotype, Long QT syndrome, Romano-Ward syndrome | 92,062,287(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs1060503553 | uncertain-significance, Long QT syndrome | 91,973,723(+) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant | |
| rs1060503578 | uncertain-significance, Long QT syndrome | 92,045,078(+) | G/C | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3571985 | CNV | loss | 25503493 |
| nsv1021101 | CNV | gain | 25217958 |
| nsv1140821 | CNV | deletion | 24896259 |
| nsv5838 | CNV | deletion | 18451855 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP9 Gene
Disorders for AKAP9 Gene
(9) MalaCards diseases for AKAP9 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| long qt syndrome 11 |
|
|
| long qt syndrome 1 |
|
|
| long qt syndrome |
|
|
| skull base meningioma |
|
|
| skull base neoplasm |
|
|
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
No data available for Genatlas for AKAP9 Gene
Publications for AKAP9 Gene
- 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 22 58
- 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 22 58
- 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 22 58
- 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 22 58
- 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 22 58
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