AKAP9
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Also known as KIAA0803AKAP350AKAP450CG-NAPYOTIAOHYPERIONPRKA9MU-RMS-40.16APPP1R45LQT11
Summary
AKAP9 (A-kinase anchoring protein 9, HGNC:379) is a protein-coding gene on chromosome 7q21.2, encoding A-kinase anchor protein 9 (Q99996). Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus.
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.
Source: NCBI Gene 10142 — RefSeq curated summary.
At a glance
- Gene–disease (curated): male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate, GenCC) — +2 more curated relationships
- GWAS associations: 8
- Clinical variants (ClinVar): 3,716 total — 1 pathogenic, 4 likely-pathogenic
- Phenotypes (HPO): 25
- Cancer driver (intOGen): activating (oncogene-like) across 10 cancer types
- MANE Select transcript:
NM_005751
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:379 |
| Approved symbol | AKAP9 |
| Name | A-kinase anchoring protein 9 |
| Location | 7q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11 |
| Ensembl gene | ENSG00000127914 |
| Ensembl biotype | protein_coding |
| OMIM | 604001 |
| Entrez | 10142 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 18 protein_coding, 10 retained_intron, 6 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000356239, ENST00000359028, ENST00000394534, ENST00000394564, ENST00000435423, ENST00000463118, ENST00000484815, ENST00000486313, ENST00000487258, ENST00000487692, ENST00000491695, ENST00000493453, ENST00000674381, ENST00000679448, ENST00000679457, ENST00000679474, ENST00000679521, ENST00000679554, ENST00000679722, ENST00000679821, ENST00000680047, ENST00000680072, ENST00000680074, ENST00000680181, ENST00000680365, ENST00000680513, ENST00000680534, ENST00000680766, ENST00000680952, ENST00000681216, ENST00000681412, ENST00000681722, ENST00000925975, ENST00000925976, ENST00000925977
RefSeq mRNA: 3 — MANE Select: NM_005751
NM_001379277, NM_005751, NM_147185
CCDS: CCDS5622, CCDS94141, CCDS94142
Canonical transcript exons
ENST00000356239 — 50 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000434664 | 92089385 | 92089529 |
| ENSE00000434665 | 92093097 | 92093316 |
| ENSE00000918935 | 92086228 | 92086416 |
| ENSE00000918940 | 92079079 | 92080152 |
| ENSE00000918949 | 92052726 | 92052958 |
| ENSE00000918950 | 92045008 | 92045213 |
| ENSE00000918951 | 92042668 | 92042771 |
| ENSE00000918952 | 92042046 | 92042186 |
| ENSE00001031186 | 92040674 | 92040898 |
| ENSE00001396791 | 91940862 | 91941147 |
| ENSE00001518744 | 92110122 | 92110673 |
| ENSE00001610507 | 92085495 | 92085686 |
| ENSE00001615779 | 92084640 | 92084703 |
| ENSE00001727716 | 92084819 | 92084940 |
| ENSE00001747828 | 92082522 | 92082662 |
| ENSE00001765764 | 92083170 | 92083655 |
| ENSE00002432222 | 92076855 | 92077007 |
| ENSE00002440884 | 92070030 | 92070206 |
| ENSE00002469294 | 92077696 | 92077875 |
| ENSE00002504189 | 92070905 | 92071009 |
| ENSE00002523196 | 92066427 | 92066546 |
| ENSE00002707317 | 92065231 | 92065463 |
| ENSE00003462858 | 91995603 | 91995800 |
| ENSE00003464483 | 92097586 | 92097794 |
| ENSE00003476965 | 92102594 | 92102826 |
| ENSE00003484877 | 92000848 | 92003235 |
| ENSE00003490760 | 92095023 | 92095173 |
| ENSE00003515378 | 91994621 | 91994776 |
| ENSE00003518175 | 92029895 | 92029991 |
| ENSE00003522563 | 92096689 | 92097357 |
| ENSE00003529688 | 92017017 | 92017102 |
| ENSE00003542008 | 92016129 | 92016267 |
| ENSE00003550230 | 92031512 | 92031604 |
| ENSE00003561325 | 92107293 | 92107422 |
| ENSE00003563282 | 92022238 | 92022352 |
| ENSE00003563337 | 92061260 | 92061422 |
| ENSE00003565503 | 92014249 | 92014328 |
| ENSE00003575362 | 91992885 | 91993055 |
| ENSE00003575995 | 92038419 | 92038772 |
| ENSE00003584199 | 91992158 | 91992211 |
| ENSE00003596992 | 92100856 | 92101056 |
| ENSE00003608380 | 92098109 | 92098214 |
| ENSE00003610052 | 92012429 | 92012642 |
| ENSE00003617904 | 91980289 | 91980333 |
| ENSE00003631847 | 92022814 | 92023009 |
| ENSE00003637094 | 92062274 | 92062486 |
| ENSE00003662552 | 92099687 | 92099869 |
| ENSE00003666256 | 92108494 | 92108633 |
| ENSE00003671590 | 92105678 | 92105763 |
| ENSE00003682193 | 91973711 | 91973968 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 98.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.2660 / max 818.1560, expressed in 1802 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79498 | 24.8928 | 1792 |
| 79499 | 3.2037 | 1044 |
| 79501 | 0.9770 | 395 |
| 79514 | 0.6955 | 259 |
| 79515 | 0.5915 | 231 |
| 79508 | 0.5708 | 206 |
| 79497 | 0.4508 | 225 |
| 79512 | 0.3616 | 143 |
| 79500 | 0.3135 | 133 |
| 79511 | 0.1275 | 82 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 98.85 | gold quality |
| bronchial epithelial cell | CL:0002328 | 98.12 | gold quality |
| cortical plate | UBERON:0005343 | 97.60 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 97.43 | gold quality |
| sural nerve | UBERON:0015488 | 97.33 | gold quality |
| bronchus | UBERON:0002185 | 97.26 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.17 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.00 | gold quality |
| jejunum | UBERON:0002115 | 96.68 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 96.41 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.31 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.16 | gold quality |
| right uterine tube | UBERON:0001302 | 96.15 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.11 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.10 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.03 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.00 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 95.92 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 95.91 | gold quality |
| biceps brachii | UBERON:0001507 | 95.80 | gold quality |
| tibia | UBERON:0000979 | 95.53 | gold quality |
| duodenum | UBERON:0002114 | 95.40 | gold quality |
| endometrium epithelium | UBERON:0004811 | 95.35 | gold quality |
| body of pancreas | UBERON:0001150 | 95.33 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.25 | gold quality |
| diaphragm | UBERON:0001103 | 95.23 | gold quality |
| gluteal muscle | UBERON:0002000 | 95.21 | gold quality |
| renal medulla | UBERON:0000362 | 95.15 | gold quality |
| rectum | UBERON:0001052 | 95.06 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.98 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-137537 | yes | 3443.56 |
| E-MTAB-11121 | yes | 2912.35 |
| E-HCAD-1 | yes | 26.33 |
| E-MTAB-5061 | yes | 15.62 |
| E-GEOD-130148 | yes | 11.03 |
| E-HCAD-9 | yes | 9.44 |
| E-GEOD-98556 | no | 4806.33 |
| E-CURD-135 | no | 1728.66 |
| E-MTAB-7316 | no | 31.35 |
| E-HCAD-31 | no | 5.24 |
| E-GEOD-83139 | no | 3.82 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting AKAP9, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-548B-3P | 99.38 | 67.26 | 1000 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
Literature-anchored findings (GeneRIF, showing 39)
- included in a macromolecular complex with PKA and PP1 which is required for the regulation of hKCNQ1 by PKA-dependent phosphorylation (PMID:11799244)
- CG-NAP and kendrin provide sites for microtubule nucleation in the mammalian centrosome by anchoring gamma-TuRC (PMID:12221128)
- findings support a model in which sub-cellular localization at the centrosome is mediated, at least in part, through the action of CG-NAP/AKAP450 (PMID:12270714)
- InsP(3)R1-PKA association is mediated by AKAP9; InsP(3)R1-AKAP9 binding promotes association of neuronal InsP(3)R1 with the NR1 NMDA receptor; and neuronal InsP(3)R1 associate with PP1 directly via carboxy-terminus and indirectly via AKAP9 (PMID:14982933)
- AKAP9-BRAF fusion was preferentially found in radiation-induced papillary carcinomas developing after a short latency, whereas BRAF point mutations were absent in this group (PMID:15630448)
- These results suggest that CG-NAP/D causes centrosome amplification by anchoring excess amount of cyclin E-cdk2 to centrosomes and, possibly, CG-NAP participates in centrosome duplication by recruiting cyclin E-cdk2 to centrosomes in normal cell cycle. (PMID:15670215)
- expression of the intact CG-NAP/AKAP450 and its recruitment to the LFA-1-associated multimolecular complex is critically important for polarization and migration of T cells induced by this integrin. (PMID:16339516)
- AKAP350 has a role in the remodeling of the microtubule cytoskeleton. (PMID:16356588)
- CG-NAP is recruited to the minus ends of microtubules by interacting with cytoplasmic dynein, thereby localizes to the Golgi apparatus in a microtubule-dependent manner and possibly involved in the formation of the Golgi near the centrosomes. (PMID:17352745)
- genetic perturbations in AKAP9 disrupt its binding to KCNQ1 and have a role in long-QT syndrome (PMID:18093912)
- Polymorphisms in AKAP9 M4631 were associated with increased risks for familial and nonfamilial breast cancer. The functional consequence of the AKAP9 M4631 polymorphism may involve the PKA pathway. (PMID:18334708)
- These results provide the first evidence for the microtubule dependent association of AKAP350A and CCAR1 with RNA stress granules. (PMID:19073175)
- Data suggest that recruitment of AKAP450 on Golgi membranes through GM130 allows centrosome-associated nucleating activity to extend to the Golgi, to control the assembly of subsets of microtubules. (PMID:19242490)
- Suppression of AKAP450 by overexpression of a dominant-negative form or siRNA knockdown disrupted the positioning and conformational activation of lymphocyte function-associated antigen 1 at the immune synapse. (PMID:20231423)
- We describe a pathway that integrates Epac-mediated signals with AKAP9-dependent microtubule dynamics to coordinate integrins at lateral borders (PMID:20952690)
- AKAP350 participates in mechanisms which determine the development of canalicular structures as well as accurate canalicular expression of distinct proteins and actin organization (PMID:21374596)
- identification of AKAP450 as a key determinant of pericentrosomal Golgi ribbon integrity, positioning, and function in mammalian cells (PMID:21606206)
- Genotyped 14,843 invasive breast cancer case patients and 19,852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry for single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I). (PMID:21931171)
- in heart, Yotiao brings together PKA, PP1, PDE4D3, AC9, and the I(Ks) channel to achieve localized temporal regulation of beta-adrenergic stimulation. (PMID:22778270)
- Protein kinase A-phosphodiesterase (PDE)4D3-A kinase anchor protein (AKAP)9 complex generates spatial compartmentalization of cyclic adenosine monophosphate (cAMP) signaling at the centrosome. (PMID:22908311)
- AKAP proteins, most likely AKAP9, maintain the bronchial epithelial barrier by regulating the E-cadherin expression at the cell membrane. (PMID:24452374)
- A590T mutation in KCNQ1 C-terminal helix D decreases KCNE1 channel trafficking and function but not Yotiao interaction. (PMID:24713462)
- AKAP9 has been identified as a Long QT Syndrome Type 1 modifying gene (PMID:25087618)
- This study demonstrated that two rare AKAP9 variants( rs144662445 and rs149979685) are associated with Alzheimer’s disease in African Americans. (PMID:25172201)
- data indicate that MALAT1 may promote CRC tumor development via its target protein AKAP-9 (PMID:25446987)
- Study suggests a role of rare missense variants at NRXN1 and AKAP9 in schizophrenia susceptibility, probably related to alteration of the excitatory/inhibitory synaptic balance, deserving further investigation (PMID:25943950)
- results support a model in which AKAP350 recruits CIP4 to the centrosome, providing a centrosomal scaffold to integrate microtubule and actin dynamics, thus enabling centrosome polarization and ensuring cell migration directionality. (PMID:26208639)
- AKAP9 gene harbors not only somatic frameshift mutations but also mutational ITH. (PMID:26786868)
- Findings suggest MALAT1 increases AKAP-9 expression by promoting SRPK1-catalyzed SRSF1 phosphorylation in CRC cells. These results reveal a novel molecular mechanism by which MALAT1 regulates AKAP-9 expression in CRC cells. (PMID:26887056)
- In cultured colorectal cancer (CRC) cells, knockdown of AKAP-9 inhibited cell proliferation, invasion, and migration. AKAP-9 deficiency also attenuated CRC tumor growth and metastasis in vivo. Mechanistically, AKAP-9 interacted with cdc42 interacting protein 4 (CIP4) and regulated its expression. (PMID:27039663)
- Data suggest that CDK5RAP2 and CEP170 both interact with microtubule nucleation-promoting region of AKAP350A; CEP68 interacts with distal C-terminal region of AKAP350A; AKAP350A spans the bridge between centrioles. (CDK5RAP2 = CDK5 regulatory subunit associated protein 2; CEP170 = centrosomal protein 170kDa; AKAP350A = A kinase (PRKA) anchor protein (yotiao) 9; CEP68 = centrosomal protein 68kDa) (PMID:29054927)
- Data suggest that AKAP350A utilizes organelle-specific targeting domains to promote spatially distinct microtubule nucleation pathways. [REVIEW] (PMID:29247130)
- RNA sequencing identified in both an AKAP9-BRAF gene fusion (PMID:29464327)
- This study shows the impact of rare functional AKAP9 mutations on Tau, a central mechanism of Alzheimer disease pathogenesis (PMID:29516269)
- this study provide critical insights into the roles of CG-NAP in regulating cytoskeletal architecture and T-cell migration (PMID:29545805)
- A-Kinase Anchoring Proteins Diminish TGF-beta1/Cigarette Smoke-Induced Epithelial-To-Mesenchymal Transition. (PMID:32028718)
- Alzheimer’s disease associated AKAP9 I2558M mutation alters posttranslational modification and interactome of tau and cellular functions in CRISPR-edited human neuronal cells. (PMID:35567427)
- Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas. (PMID:38203733)
- A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein. (PMID:38657442)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Akap9 | ENSMUSG00000040407 |
| rattus_norvegicus | Akap9 | ENSRNOG00000026319 |
Paralogs (1): PCNT (ENSG00000160299)
Protein
Protein identifiers
A-kinase anchor protein 9 — Q99996 (reviewed: Q99996)
Alternative names: A-kinase anchor protein 350 kDa, A-kinase anchor protein 450 kDa, AKAP 120-like protein, Centrosome- and Golgi-localized PKN-associated protein, Protein hyperion, Protein kinase A-anchoring protein 9, Protein yotiao
All UniProt accessions (20): A0A0A0MRF6, A0A2R8Y590, A0A6I8PUD8, A0A7P0T8N5, A0A7P0T8Z8, A0A7P0T928, A0A7P0T939, A0A7P0T9A9, A0A7P0T9E2, A0A7P0TAA2, A0A7P0TAD6, A0A7P0TAJ1, A0A7P0TAX3, A0A7P0TB09, A0A7P0TBH8, A0A7P0TBI4, A0A7P0Z4N5, A0A7P0Z4Q5, Q99996, H7BYL6
UniProt curated annotations — full annotation on UniProt →
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. 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. 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. 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. 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.
Subunit / interactions. 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. Interacts with chloride intracellular channel proteins CLIC1, CLIC4 and CLIC5. CSNK1D binding promotes its centrosomal subcellular location. Interacts with GM130/GOLGA2; leading to recruitment to the Golgi apparatus. Interacts with KCNQ1; targets protein kinase A (PKA) catalytic and regulatory subunits and protein phosphatase 1 (PP1), to the heterodimer KCNQ1-KCNE1. Interacts with PDE4DIP isoform 13/MMG8/SMYLE; this interaction stabilizes both proteins. In complex with PDE4DIP isoform 13, recruits CAMSAP2 to the Golgi apparatus. Forms a pericentrosomal complex with CDK5RAP2, EB1/MAPRE1 and PDE4DIP isoform 13; within this complex, MAPRE1 binding to CDK5RAP2 may be mediated by PDE4DIP. Interacts with MAPRE1 and MAPRE3. Interacts (via C-terminus) with CAMSAP2; this interaction is much stronger in the presence of PDE4DIP isoform 13/MMG8/SMYLE. Interacts with CAMSAP3. Interacts (via C-terminus) with the gamma-tubulin ring complex (gamma-TuRC), composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6.
Subcellular location. Golgi apparatus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Tissue specificity. Widely expressed. Isoform 4: Highly expressed in skeletal muscle and in pancreas.
Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. RII-binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q99996-2 | 2 | yes |
| Q99996-1 | 1 | |
| Q99996-3 | 3, CG-NAP | |
| Q99996-4 | 4, Yotiao | |
| Q99996-5 | 5 | |
| Q99996-6 | 6, AKAP350 |
RefSeq proteins (3): NP_001366206, NP_005742, NP_671714 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005539 | ELK_dom | Domain |
| IPR019528 | PACT_domain | Domain |
| IPR028745 | AKAP9/Pericentrin | Family |
Pfam: PF10495
UniProt features (77 total): sequence conflict 30, coiled-coil region 13, sequence variant 10, modified residue 7, splice variant 7, compositionally biased region 5, region of interest 4, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q99996 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (7): 153, 1327, 1765, 3690, 3842, 3865, 3897
Function
Pathways and Gene Ontology
Reactome pathways
24 pathways
| ID | Pathway |
|---|---|
| R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| R-HSA-5576890 | Phase 3 - rapid repolarisation |
| R-HSA-5576893 | Phase 2 - plateau phase |
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| R-HSA-6802952 | Signaling by BRAF and RAF1 fusions |
| R-HSA-8854518 | AURKA Activation by TPX2 |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-1643685 | Disease |
| R-HSA-1852241 | Organelle biogenesis and maintenance |
| R-HSA-380287 | Centrosome maturation |
| R-HSA-397014 | Muscle contraction |
| R-HSA-453274 | Mitotic G2-G2/M phases |
| R-HSA-5576891 | Cardiac conduction |
| R-HSA-5617833 | Cilium Assembly |
| R-HSA-5663202 | Diseases of signal transduction by growth factor receptors and second messengers |
| R-HSA-6802957 | Oncogenic MAPK signaling |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-68886 | M Phase |
| R-HSA-69275 | G2/M Transition |
| R-HSA-69278 | Cell Cycle, Mitotic |
MSigDB gene sets: 418 (showing top):
GGGACCA_MIR133A_MIR133B, GOBP_REGULATION_OF_GOLGI_ORGANIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_RESPONSE_TO_ELECTRICAL_STIMULUS, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_MICROTUBULE_NUCLEATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS
GO Biological Process (13): microtubule nucleation (GO:0007020), signal transduction (GO:0007165), chemical synaptic transmission (GO:0007268), positive regulation of microtubule polymerization (GO:0031116), protein-containing complex localization (GO:0031503), response to electrical stimulus (GO:0051602), maintenance of centrosome location (GO:0051661), regulation of membrane repolarization (GO:0060306), regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307), cellular response to cAMP (GO:0071320), regulation of heart rate by cardiac conduction (GO:0086091), regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909), regulation of Golgi organization (GO:1903358)
GO Molecular Function (8): DNA binding (GO:0003677), signaling receptor binding (GO:0005102), potassium channel regulator activity (GO:0015459), protein kinase A regulatory subunit binding (GO:0034237), transmembrane transporter binding (GO:0044325), molecular adaptor activity (GO:0060090), potassium channel activator activity (GO:0099104), protein binding (GO:0005515)
GO Cellular Component (15): Golgi apparatus (GO:0005794), Golgi stack (GO:0005795), cis-Golgi network (GO:0005801), centrosome (GO:0005813), cytosol (GO:0005829), cytoskeleton (GO:0005856), voltage-gated potassium channel complex (GO:0008076), potassium channel complex (GO:0034705), neuronal cell body (GO:0043025), dendritic branch (GO:0044307), synaptic membrane (GO:0097060), glutamatergic synapse (GO:0098978), extrinsic component of postsynaptic density membrane (GO:0099147), cytoplasm (GO:0005737), microtubule organizing center (GO:0005815)
Reactome top-level categories
Rollup of top-12 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 3 |
| Centrosome maturation | 2 |
| Cardiac conduction | 2 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 1 |
| Mitotic Prometaphase | 1 |
| Assembly of the 9+0 primary cilium | 1 |
| Oncogenic MAPK signaling | 1 |
| Cell Cycle, Mitotic | 1 |
| Muscle contraction | 1 |
| Organelle biogenesis and maintenance | 1 |
| Disease | 1 |
| Diseases of signal transduction by growth factor receptors and second messengers | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| microtubule polymerization | 2 |
| protein binding | 2 |
| potassium channel activity | 2 |
| binding | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| synapse | 2 |
| microtubule cytoskeleton organization | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| anterograde trans-synaptic signaling | 1 |
| positive regulation of microtubule polymerization or depolymerization | 1 |
| regulation of microtubule polymerization | 1 |
| positive regulation of protein polymerization | 1 |
| positive regulation of supramolecular fiber organization | 1 |
| macromolecule localization | 1 |
| response to abiotic stimulus | 1 |
| centrosome localization | 1 |
| maintenance of organelle location | 1 |
| regulation of membrane potential | 1 |
| regulation of biological process | 1 |
| membrane repolarization | 1 |
| regulation of cardiac muscle cell membrane repolarization | 1 |
| ventricular cardiac muscle cell membrane repolarization | 1 |
| response to cAMP | 1 |
| cellular response to nitrogen compound | 1 |
| cellular response to oxygen-containing compound | 1 |
| regulation of heart rate | 1 |
| cardiac conduction | 1 |
| cardiac muscle cell action potential | 1 |
| regulation of cardiac muscle cell contraction | 1 |
| regulation of cardiac muscle cell action potential | 1 |
| Golgi organization | 1 |
| regulation of organelle organization | 1 |
| nucleic acid binding | 1 |
| ion channel regulator activity | 1 |
Protein interactions and networks
STRING
3061 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AKAP9 | KCNQ1 | P51787 | 993 |
| AKAP9 | KCNE1 | P15382 | 969 |
| AKAP9 | PRKACA | P17612 | 968 |
| AKAP9 | PRKACG | P22612 | 967 |
| AKAP9 | PRKACB | P22694 | 967 |
| AKAP9 | GOLGA2 | Q08379 | 947 |
| AKAP9 | PDE4DIP | Q5VU43 | 928 |
| AKAP9 | AKAP1 | Q92667 | 872 |
| AKAP9 | KCNE2 | Q9Y6J6 | 870 |
| AKAP9 | SCN4B | Q8IWT1 | 856 |
| AKAP9 | KCNE3 | Q9Y6H6 | 827 |
| AKAP9 | SNTA1 | Q13424 | 814 |
| AKAP9 | PDE4D | Q08499 | 809 |
| AKAP9 | CALM1 | P02593 | 797 |
| AKAP9 | KCNH2 | Q12809 | 794 |
IntAct
163 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| MAPRE1 | CLASP2 | psi-mi:“MI:0914”(association) | 0.850 |
| CSNK1D | PER2 | psi-mi:“MI:0914”(association) | 0.810 |
| GSK3A | AXIN1 | psi-mi:“MI:0914”(association) | 0.800 |
| PRKACB | PRKAR1A | psi-mi:“MI:0914”(association) | 0.790 |
| PRKACA | VAPB | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| PRKAR1A | psi-mi:“MI:0914”(association) | 0.700 | |
| AKAP9 | rep | psi-mi:“MI:0915”(physical association) | 0.660 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| BNIP1 | NBAS | psi-mi:“MI:0914”(association) | 0.640 |
| STK4 | STRN | psi-mi:“MI:0914”(association) | 0.610 |
| DISC1 | AKAP9 | psi-mi:“MI:0915”(physical association) | 0.570 |
| ORF | EIF3D | psi-mi:“MI:0914”(association) | 0.560 |
| GOLGA2 | AKAP9 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| GOLGA2 | AKAP9 | psi-mi:“MI:0915”(physical association) | 0.540 |
| AKAP9 | GOLGA2 | psi-mi:“MI:0914”(association) | 0.540 |
| rep | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| PRKACG | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| PRKAR2B | AMY1A | psi-mi:“MI:0914”(association) | 0.530 |
| DBF4B | CDC7 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (313): AKAP9 (Two-hybrid), AKAP9 (Two-hybrid), AKAP9 (Two-hybrid), AKAP9 (Two-hybrid), AKAP9 (Two-hybrid), AKAP9 (Two-hybrid), IKZF3 (Two-hybrid), WAC (Two-hybrid), THAP1 (Two-hybrid), PRDM14 (Two-hybrid), USHBP1 (Two-hybrid), C1orf94 (Two-hybrid), SAMD3 (Two-hybrid), AKAP9 (Affinity Capture-MS), AKAP9 (Affinity Capture-MS)
ESM2 similar proteins: D3ZZL9, E9Q1U1, F4I9A2, O75330, O97961, P49454, P61430, P97779, Q00547, Q03410, Q0VBY1, Q13439, Q14789, Q15075, Q15643, Q28628, Q4R7H3, Q53EZ4, Q5M7B7, Q5RI56, Q5T9S5, Q60563, Q61595, Q62209, Q640L5, Q6TFL3, Q70FJ1, Q7FAD5, Q861Q8, Q86UP2, Q8BL66, Q8CDI7, Q8CHG3, Q8HYY4, Q8IWJ2, Q8NB25, Q8NCX0, Q8R5M4, Q90631, Q90Z16
Diamond homologs: O95613, P48725, Q28628, Q70FJ1, Q99996
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AKAP9 | “up-regulates activity” | TRIP10 | binding |
| ITGAL | “up-regulates activity” | AKAP9 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 180 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| PKA activation | 6 | 29.7× | 2e-06 |
| PKA-mediated phosphorylation of CREB | 6 | 26.8× | 4e-06 |
| PKA activation in glucagon signalling | 5 | 26.2× | 3e-05 |
| DARPP-32 events | 6 | 22.3× | 1e-05 |
| Centrosome maturation | 10 | 19.8× | 5e-09 |
| Anti-inflammatory response favouring Leishmania parasite infection | 6 | 18.5× | 2e-05 |
| Leishmania parasite growth and survival | 6 | 18.5× | 2e-05 |
| Calmodulin induced events | 6 | 17.8× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| vascular endothelial cell response to laminar fluid shear stress | 5 | 23.2× | 2e-03 |
| microtubule nucleation | 5 | 19.8× | 3e-03 |
| renal water homeostasis | 5 | 16.2× | 5e-03 |
| non-motile cilium assembly | 6 | 11.0× | 5e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 10 cancer types — BCC, BLCA, BRCA, CCRCC, ESCA, HCC, HNSC, SKCM, STOMACH, UCEC.
Clinical variants and AI predictions
ClinVar
3716 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 4 |
| Uncertain significance | 2025 |
| Likely benign | 1143 |
| Benign | 109 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3391896 | GRCh37/hg19 7q21.2(chr7:91737874-92247201)x1 | Pathogenic |
| 180261 | NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter) | Likely pathogenic |
| 207945 | NM_005751.5(AKAP9):c.2295T>A (p.Asp765Glu) | Likely pathogenic |
| 207946 | NM_005751.5(AKAP9):c.5341T>A (p.Ser1781Thr) | Likely pathogenic |
| 4687971 | NM_005751.5(AKAP9):c.571C>T (p.Gln191Ter) | Likely pathogenic |
SpliceAI
7260 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:91941147:GGTA:G | donor_loss | 1.0000 |
| 7:91960899:G:T | donor_gain | 1.0000 |
| 7:91973709:A:AG | acceptor_gain | 1.0000 |
| 7:91973709:AGCTT:A | acceptor_gain | 1.0000 |
| 7:91973710:G:GA | acceptor_gain | 1.0000 |
| 7:91973710:GC:G | acceptor_gain | 1.0000 |
| 7:91973710:GCT:G | acceptor_gain | 1.0000 |
| 7:91973710:GCTT:G | acceptor_gain | 1.0000 |
| 7:91973710:GCTTG:G | acceptor_gain | 1.0000 |
| 7:91973965:GGAA:G | donor_gain | 1.0000 |
| 7:91973966:GAA:G | donor_gain | 1.0000 |
| 7:91973966:GAAG:G | donor_gain | 1.0000 |
| 7:91973967:AAG:A | donor_loss | 1.0000 |
| 7:91973968:AGTA:A | donor_loss | 1.0000 |
| 7:91973969:G:GG | donor_gain | 1.0000 |
| 7:91973970:TAAG:T | donor_loss | 1.0000 |
| 7:91980277:T:G | acceptor_gain | 1.0000 |
| 7:91980281:T:TA | acceptor_gain | 1.0000 |
| 7:91980285:TTA:T | acceptor_loss | 1.0000 |
| 7:91980286:TAG:T | acceptor_loss | 1.0000 |
| 7:91980287:A:AG | acceptor_gain | 1.0000 |
| 7:91980287:AGC:A | acceptor_loss | 1.0000 |
| 7:91980287:AGCT:A | acceptor_gain | 1.0000 |
| 7:91980288:G:A | acceptor_loss | 1.0000 |
| 7:91980288:G:GG | acceptor_gain | 1.0000 |
| 7:91980288:GC:G | acceptor_gain | 1.0000 |
| 7:91980288:GCT:G | acceptor_gain | 1.0000 |
| 7:91980288:GCTG:G | acceptor_gain | 1.0000 |
| 7:91980331:GAG:G | donor_gain | 1.0000 |
| 7:91980332:AGGTA:A | donor_loss | 1.0000 |
AlphaMissense
26002 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:91994673:T:C | L210P | 0.999 |
| 7:92001716:T:C | L600P | 0.999 |
| 7:92102631:G:C | R3712P | 0.999 |
| 7:92102640:T:C | L3715P | 0.999 |
| 7:92102661:T:C | L3722P | 0.999 |
| 7:92001742:G:C | A609P | 0.998 |
| 7:92001760:G:C | A615P | 0.998 |
| 7:92001775:G:C | A620P | 0.998 |
| 7:92102681:T:C | F3729L | 0.998 |
| 7:92102683:C:A | F3729L | 0.998 |
| 7:92102683:C:G | F3729L | 0.998 |
| 7:91973720:T:C | F20L | 0.997 |
| 7:91973722:T:A | F20L | 0.997 |
| 7:91973722:T:G | F20L | 0.997 |
| 7:92001710:T:C | I598T | 0.997 |
| 7:92001714:A:C | K599N | 0.997 |
| 7:92001714:A:T | K599N | 0.997 |
| 7:92001766:T:C | S617P | 0.997 |
| 7:92001791:T:C | L625P | 0.997 |
| 7:92001803:T:C | L629P | 0.997 |
| 7:92040762:T:C | L1594P | 0.997 |
| 7:92052927:T:C | L1857P | 0.997 |
| 7:92065287:G:C | A2012P | 0.997 |
| 7:92066463:T:C | F2083L | 0.997 |
| 7:92066465:C:A | F2083L | 0.997 |
| 7:92066465:C:G | F2083L | 0.997 |
| 7:92070082:T:C | L2128P | 0.997 |
| 7:92076898:T:C | L2219P | 0.997 |
| 7:92108595:T:C | L3883P | 0.997 |
| 7:91941117:A:C | R6S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000029387 (7:92026803 A>T), RS1000036589 (7:92074097 G>T), RS1000051875 (7:92018770 C>A,T), RS1000071691 (7:92089766 C>G), RS1000083763 (7:92020487 C>T), RS1000089599 (7:91944163 G>C), RS1000127763 (7:91981766 C>T), RS1000138441 (7:91974419 A>G), RS1000206209 (7:92072538 A>G), RS1000215053 (7:91967654 T>C), RS1000220474 (7:91996294 C>T), RS1000246429 (7:91986803 A>G), RS1000267583 (7:92013844 T>C,G), RS1000268950 (7:92032845 A>C,G), RS1000278018 (7:92080514 T>C)
Disease associations
OMIM: gene MIM:604001 | disease phenotypes: MIM:611820, MIM:114500, MIM:613688, MIM:192500, MIM:601144, MIM:604772, MIM:194200
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| male infertility with azoospermia or oligozoospermia due to single gene mutation | Moderate | Autosomal recessive |
| long QT syndrome 11 | Limited | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| long QT syndrome | Disputed | AD |
Mondo (24): long QT syndrome (MONDO:0002442), long QT syndrome 11 (MONDO:0012738), cardiomyopathy (MONDO:0004994), colorectal cancer (MONDO:0005575), dilated cardiomyopathy (MONDO:0005021), ventricular tachycardia (MONDO:0005477), cardiac arrest (MONDO:0000745), long QT syndrome 2 (MONDO:0013367), ventricular fibrillation (MONDO:0000190), long QT syndrome 1 (MONDO:0100316), cardiac rhythm disease (MONDO:0007263), Brugada syndrome 1 (MONDO:0011001), catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990), hypertrophic cardiomyopathy (MONDO:0005045), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587)
Orphanet (12): Romano-Ward syndrome (Orphanet:101016), Congenital long QT syndrome (Orphanet:768), Rare cardiomyopathy (Orphanet:167848), Dilated cardiomyopathy (Orphanet:217604), Brugada syndrome (Orphanet:130), Catecholaminergic polymorphic ventricular tachycardia (Orphanet:3286), Rare hypertrophic cardiomyopathy (Orphanet:217569), Inherited arrhythmogenic cardiomyopathy (Orphanet:247), Amyloidosis (Orphanet:69), Restrictive cardiomyopathy (Orphanet:217632), NON RARE IN EUROPE: Colorectal cancer (Orphanet:466667), NON RARE IN EUROPE: Wolff-Parkinson-White syndrome (Orphanet:907)
HPO phenotypes
25 total (30 of 25 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000365 | Hearing impairment |
| HP:0001197 | Abnormality of prenatal development or birth |
| HP:0001250 | Seizure |
| HP:0001279 | Syncope |
| HP:0001645 | Sudden cardiac death |
| HP:0001649 | Tachycardia |
| HP:0001663 | Ventricular fibrillation |
| HP:0001664 | Torsade de pointes |
| HP:0001688 | Sinus bradycardia |
| HP:0001695 | Cardiac arrest |
| HP:0002900 | Hypokalemia |
| HP:0003621 | Juvenile onset |
| HP:0004308 | Ventricular arrhythmia |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0004755 | Supraventricular tachycardia |
| HP:0005135 | Abnormal T-wave |
| HP:0005184 | Prolonged QTc interval |
| HP:0011704 | Sick sinus syndrome |
| HP:0011705 | First degree atrioventricular block |
| HP:0011712 | Complete right bundle branch block |
| HP:0011715 | Trifascicular block |
| HP:0012251 | ST segment elevation |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0500018 | Abnormal cardiac exercise stress test |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0011034 | Amyloid deposition |
| HP:0005110 | Atrial fibrillation |
| HP:0001716 | Wolff-Parkinson-White syndrome |
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002263_9 | Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced) | 3.000000e-06 |
| GCST004988_209 | Breast cancer | 9.000000e-11 |
| GCST006396_9 | Disrupted circadian rhythm (low relative amplitude of rest-activity cycles) | 2.000000e-06 |
| GCST006993_10 | Hippocampal volume in Alzheimer’s disease dementia | 2.000000e-07 |
| GCST006997_2 | Cerebrospinal fluid t-tau levels in mild cognitive impairment | 5.000000e-06 |
| GCST006998_4 | Cerebrospinal fluid p-tau levels in mild cognitive impairment | 3.000000e-07 |
| GCST90000025_353 | Appendicular lean mass | 1.000000e-13 |
| GCST90002403_578 | Red blood cell count | 3.000000e-12 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005533 | response to non-steroidal anti-inflammatory |
| EFO:0005035 | hippocampal volume |
| EFO:0004760 | t-tau measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0004305 | erythrocyte count |
MeSH disease descriptors (17)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000686 | Amyloidosis | C18.452.845.500 |
| D019571 | Arrhythmogenic Right Ventricular Dysplasia | C14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145 |
| D001281 | Atrial Fibrillation | C14.280.067.198; C23.550.073.198 |
| D053840 | Brugada Syndrome | C14.280.067.322; C14.280.123.250; C16.320.100 |
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
| D009202 | Cardiomyopathies | C14.280.238 |
| D002311 | Cardiomyopathy, Dilated | C14.280.195.160; C14.280.238.070; C16.320.488.750 |
| D002312 | Cardiomyopathy, Hypertrophic | C14.280.238.100; C14.280.484.048.750.070.160 |
| D002313 | Cardiomyopathy, Restrictive | C14.280.238.160 |
| D006323 | Heart Arrest | C14.280.383 |
| D006333 | Heart Failure | C14.280.434 |
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
| D017180 | Tachycardia, Ventricular | C14.280.067.845.940; C14.280.123.875.940; C23.550.073.845.940 |
| D014693 | Ventricular Fibrillation | C14.280.067.922; C23.550.073.922 |
| D014927 | Wolff-Parkinson-White Syndrome | C14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980 |
| C567513 | Long Qt Syndrome 11 (supp.) | |
| C563614 | Long Qt Syndrome 2 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation | 9 |
| sodium arsenite | affects localization, decreases reaction, affects methylation, decreases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Tretinoin | affects cotreatment, decreases expression, increases expression | 3 |
| Arsenic Trioxide | affects expression, increases expression, affects cotreatment, decreases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| dicrotophos | decreases expression | 1 |
| 4-methyl-7-diethylaminocoumarin | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| 1,10-phenanthroline | increases expression | 1 |
| epigallocatechin gallate | decreases expression | 1 |
| tamibarotene | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases response to substance, increases expression | 1 |
| eprenetapopt | decreases expression, affects reaction | 1 |
| jinfukang | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C6U7 | ZZUSAHi004-A | Induced pluripotent stem cell | Male |
| CVCL_SC07 | HAP1 AKAP9 (-) 1 | Cancer cell line | Male |
| CVCL_SC08 | HAP1 AKAP9 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
299 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02513940 | PHASE4 | COMPLETED | Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes |
| NCT03834883 | PHASE4 | COMPLETED | Reducing the Risk of Drug-Induced QT Interval Lengthening in Women |
| NCT04169100 | PHASE4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
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Related Atlas pages
- Associated diseases: long QT syndrome 11, long QT syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): amyloidosis, angioedema, arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome, Brugada syndrome 1, cardiac arrest, cardiac rhythm disease, catecholaminergic polymorphic ventricular tachycardia, familial long QT syndrome, heart failure, long QT syndrome 1, long QT syndrome 11, long QT syndrome 2, restrictive cardiomyopathy, urticaria, ventricular fibrillation, ventricular tachycardia, Wolff-Parkinson-White syndrome