AKAP8L
gene geneOn this page
Also known as NAKAP95HAP95
Summary
AKAP8L (A-kinase anchoring protein 8 like, HGNC:29857) is a protein-coding gene on chromosome 19p13.12, encoding A-kinase anchor protein 8-like (Q9ULX6). Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9.
Enables histone deacetylase binding activity and lamin binding activity. Involved in several processes, including cell cycle G2/M phase transition; mitotic chromosome condensation; and regulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex.
Source: NCBI Gene 26993 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 115 total
- Druggable target: yes
- MANE Select transcript:
NM_014371
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29857 |
| Approved symbol | AKAP8L |
| Name | A-kinase anchoring protein 8 like |
| Location | 19p13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NAKAP95, HAP95 |
| Ensembl gene | ENSG00000011243 |
| Ensembl biotype | protein_coding |
| OMIM | 609475 |
| Entrez | 26993 |
Gene structure
Transcript identifiers
Ensembl transcripts: 44 — 18 retained_intron, 12 protein_coding, 10 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined
ENST00000397410, ENST00000593845, ENST00000594594, ENST00000594893, ENST00000595067, ENST00000595087, ENST00000595136, ENST00000595465, ENST00000595879, ENST00000596195, ENST00000596213, ENST00000596750, ENST00000597994, ENST00000598292, ENST00000599137, ENST00000599488, ENST00000600065, ENST00000600247, ENST00000601147, ENST00000609519, ENST00000679634, ENST00000679638, ENST00000680017, ENST00000680103, ENST00000680302, ENST00000680303, ENST00000680323, ENST00000680363, ENST00000680642, ENST00000680649, ENST00000680703, ENST00000680774, ENST00000680803, ENST00000680865, ENST00000680957, ENST00000681170, ENST00000681405, ENST00000681459, ENST00000681744, ENST00000885826, ENST00000885827, ENST00000964225, ENST00000964226, ENST00000964227
RefSeq mRNA: 2 — MANE Select: NM_014371
NM_001291478, NM_014371
CCDS: CCDS46005, CCDS77249
Canonical transcript exons
ENST00000397410 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003487431 | 15380050 | 15380430 |
| ENSE00003506012 | 15397714 | 15397855 |
| ENSE00003547549 | 15404010 | 15404042 |
| ENSE00003567904 | 15397520 | 15397625 |
| ENSE00003568503 | 15403475 | 15403715 |
| ENSE00003575529 | 15401150 | 15401603 |
| ENSE00003606649 | 15380517 | 15380612 |
| ENSE00003607658 | 15410520 | 15410594 |
| ENSE00003668730 | 15397150 | 15397280 |
| ENSE00003693521 | 15418911 | 15418988 |
| ENSE00003703289 | 15399302 | 15399410 |
| ENSE00003705303 | 15400295 | 15400358 |
| ENSE00003707414 | 15400794 | 15400864 |
| ENSE00003710027 | 15400947 | 15401043 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 99.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.5300 / max 679.9277, expressed in 1820 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179743 | 37.3552 | 1817 |
| 179742 | 7.1412 | 1728 |
| 179741 | 0.0279 | 5 |
| 179740 | 0.0057 | 3 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 99.12 | gold quality |
| right uterine tube | UBERON:0001302 | 98.94 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.84 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.61 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.51 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.50 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.47 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.43 | gold quality |
| sural nerve | UBERON:0015488 | 98.38 | gold quality |
| right testis | UBERON:0004534 | 98.24 | gold quality |
| left testis | UBERON:0004533 | 98.18 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.14 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.07 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.98 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.94 | gold quality |
| endocervix | UBERON:0000458 | 97.92 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.85 | gold quality |
| tibial nerve | UBERON:0001323 | 97.82 | gold quality |
| ventricular zone | UBERON:0003053 | 97.67 | gold quality |
| granulocyte | CL:0000094 | 97.66 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.60 | gold quality |
| apex of heart | UBERON:0002098 | 97.57 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.53 | gold quality |
| right ovary | UBERON:0002118 | 97.49 | gold quality |
| left ovary | UBERON:0002119 | 97.46 | gold quality |
| body of uterus | UBERON:0009853 | 97.42 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.41 | gold quality |
| right lung | UBERON:0002167 | 97.40 | gold quality |
| cortical plate | UBERON:0005343 | 97.35 | gold quality |
| pituitary gland | UBERON:0000007 | 97.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.42 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CREB1
Literature-anchored findings (GeneRIF, showing 9)
- Results indicate that in vitro, the interaction between HA95 and LAP2beta is influenced by a PKA-mediated phosphorylation of HA95 rather than by CDK1- or PKC-mediated phosphorylation of LAP2beta (PMID:12950172)
- NAKAP-HypA scaffold is a potential nuclear docking site for huntingtin protein and may contribute to the nuclear accumulation of huntingtin observed in HD (PMID:16391387)
- Nuclear PKA C subunit co-locates with HA95 in splicing factor compartments and regulates pre-mRNA splicing, possibly through a cAMP-independent mechanism. (PMID:17594903)
- These results infer that RNF43 is a resident protein of the ER and, at least partially, the nuclear membrane, with ubiquitin ligase activity and may be involved in cell growth control potentially through the interaction with HAP95. (PMID:18313049)
- Gene dosage at 19p13.12, and AKAP8 and/or AKAP8L in particular, play an important role in modulation of head size and may contribute to autism risk. (PMID:26076356)
- A-kinase anchoring protein 8L interacts with mTORC1 and promotes cell growth. (PMID:32312749)
- Novel prognostic model predicts overall survival in colon cancer based on RNA splicing regulation gene expression. (PMID:35792657)
- AKAP8L enhances the stemness and chemoresistance of gastric cancer cells by stabilizing SCD1 mRNA. (PMID:36522343)
- Integrative analysis identifies AKAP8L as an immunological and prognostic biomarker of pan-cancer. (PMID:37683130)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | akap8l | ENSDARG00000099635 |
| mus_musculus | Akap8l | ENSMUSG00000002625 |
| rattus_norvegicus | Akap8l | ENSRNOG00000006355 |
Paralogs (2): AKAP8 (ENSG00000105127), ZNF326 (ENSG00000162664)
Protein
Protein identifiers
A-kinase anchor protein 8-like — Q9ULX6 (reviewed: Q9ULX6)
Alternative names: Helicase A-binding protein 95, Homologous to AKAP95 protein, Neighbor of A-kinase-anchoring protein 95
All UniProt accessions (14): Q9ULX6, A0A7P0T847, A0A7P0T8N3, A0A7P0T9N5, A0A7P0TAD3, A0A7P0TAE3, A0A7P0TAJ5, A0A7P0TBP0, M0QYT7, M0R008, M0R010, M0R1L5, M0R1Y5, V9GZ50
UniProt curated annotations — full annotation on UniProt →
Function. Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export. Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA. May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis. May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta. Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at ‘Ser-10’ of histone H3; in this function seems to act redundantly with AKAP8. May be involved in regulation of pre-mRNA splicing. (Microbial infection) In case of EBV infection, may target PRKACA to EBNA-LP-containing nuclear sites to modulate transcription from specific promoters. (Microbial infection) Can synergize with DHX9 to activate the CTE-mediated gene expression of type D retroviruses. (Microbial infection) In case of HIV-1 infection, involved in the DHX9-promoted annealing of host tRNA(Lys3) to viral genomic RNA as a primer in reverse transcription; in vitro negatively regulates DHX9 annealing activity.
Subunit / interactions. Interacts (via N-terminus) with DHX9 (via RGG region). Interacts with TMPO isoform Beta, PRPF40A, RNF43, lamin-B. Interacts with HDAC3; increased during mitosis. Interacts with EBV EBNA-LP. Interacts with HIV-1 reverse transcriptase/ribonuclease H.
Subcellular location. Nucleus. Nucleus matrix. Nucleus speckle. PML body. Cytoplasm.
Tissue specificity. Ubiquitously expressed. Expressed in the brain cortex (at protein level).
Post-translational modifications. Phosphorylated on serine or threonine residues possibly by PKA; probably modulating the interaction with TMPO isoform Beta.
Similarity. Belongs to the AKAP95 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULX6-1 | 1 | yes |
| Q9ULX6-2 | 2 |
RefSeq proteins (2): NP_001278407, NP_055186* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007071 | AKAP95 | Family |
| IPR034736 | ZF_C2H2_AKAP95 | Domain |
Pfam: PF04988
UniProt features (34 total): modified residue 11, compositionally biased region 7, sequence conflict 5, region of interest 3, short sequence motif 3, zinc finger region 2, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULX6-F1 | 55.46 | 0.13 |
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 (11): 208, 208, 217, 237, 247, 257, 267, 283, 292, 297, 552
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9772755 | Formation of WDR5-containing histone-modifying complexes |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9917777 | Epigenetic regulation by WDR5-containing histone modifying complexes |
MSigDB gene sets: 190 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, MODULE_255, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, BROWNE_HCMV_INFECTION_8HR_UP, GOBP_MEMBRANE_DISASSEMBLY, GOBP_CELL_CYCLE_PHASE_TRANSITION, MODULE_317, BROWNE_HCMV_INFECTION_16HR_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, GOBP_CHROMOSOME_CONDENSATION, GOBP_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_NUCLEAR_TRANSPORT, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT, BLALOCK_ALZHEIMERS_DISEASE_UP
GO Biological Process (7): mRNA processing (GO:0006397), mitotic chromosome condensation (GO:0007076), RNA splicing (GO:0008380), regulation of mRNA export from nucleus (GO:0010793), cell cycle G2/M phase transition (GO:0044839), positive regulation of transcription by RNA polymerase II (GO:0045944), nuclear membrane disassembly (GO:0051081)
GO Molecular Function (10): DNA binding (GO:0003677), RNA binding (GO:0003723), lamin binding (GO:0005521), zinc ion binding (GO:0008270), DEAD/H-box RNA helicase binding (GO:0017151), protein kinase A regulatory subunit binding (GO:0034237), histone deacetylase binding (GO:0042826), protein binding (GO:0005515), kinase activity (GO:0016301), metal ion binding (GO:0046872)
GO Cellular Component (8): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear matrix (GO:0016363), PML body (GO:0016605), nuclear speck (GO:0016607), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 |
| Gene expression (Transcription) | 1 |
| Epigenetic regulation of gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| RNA processing | 2 |
| nucleic acid binding | 2 |
| enzyme binding | 2 |
| nuclear lumen | 2 |
| mRNA metabolic process | 1 |
| mitotic sister chromatid segregation | 1 |
| mitotic cell cycle | 1 |
| chromosome condensation | 1 |
| mitotic cell cycle process | 1 |
| mRNA export from nucleus | 1 |
| regulation of RNA export from nucleus | 1 |
| regulation of ribonucleoprotein complex localization | 1 |
| cell cycle phase transition | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| membrane disassembly | 1 |
| nuclear membrane organization | 1 |
| protein binding | 1 |
| transition metal ion binding | 1 |
| protein kinase A binding | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| cation binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| nuclear body | 1 |
| nuclear ribonucleoprotein granule | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1204 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AKAP8L | RNF43 | Q68DV7 | 934 |
| AKAP8L | DHX9 | Q08211 | 873 |
| AKAP8L | PRPF40A | O75400 | 779 |
| AKAP8L | EMD | P50402 | 757 |
| AKAP8L | HTT | P42858 | 713 |
| AKAP8L | HAX1 | O00165 | 605 |
| AKAP8L | MYOM2 | P54296 | 594 |
| AKAP8L | NXF1 | Q9UBU9 | 543 |
| AKAP8L | NONO | P30807 | 532 |
| AKAP8L | AKAP8 | O43823 | 521 |
| AKAP8L | SFPQ | P23246 | 509 |
| AKAP8L | HDAC1 | Q13547 | 485 |
| AKAP8L | HSPA4 | P34932 | 450 |
| AKAP8L | AKAP17A | Q02040 | 442 |
| AKAP8L | NCOR1 | O75376 | 433 |
IntAct
333 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFT27 | IFT56 | psi-mi:“MI:0914”(association) | 0.690 |
| HDAC3 | AKAP8 | psi-mi:“MI:0914”(association) | 0.650 |
| AKAP8 | HDAC3 | psi-mi:“MI:0403”(colocalization) | 0.650 |
| AKAP8L | HDAC3 | psi-mi:“MI:0915”(physical association) | 0.610 |
| HDAC3 | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.610 |
| AKAP8L | CTA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRS3 | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.560 |
| TYK2 | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF785 | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPLKIP | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZIC1 | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.560 |
| PKN1 | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM222B | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.560 |
| PATZ1 | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENKD1 | AKAP8L | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (294): AKAP8L (Affinity Capture-RNA), AKAP8L (Affinity Capture-RNA), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), AKAP8L (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IZ84, A2CEZ5, A2RV70, D3YXK2, F1MJM0, O15047, O43823, O60293, O88291, O88453, P41073, P43243, P43244, P61129, P61406, P78332, P97868, Q08D57, Q14151, Q15424, Q1LY77, Q28F29, Q2HJG4, Q3TLH4, Q498L2, Q5BKZ1, Q5F3P8, Q5R452, Q5RAK6, Q5RCA4, Q5U236, Q5VK71, Q5ZJ02, Q63014, Q66HC1, Q66J90, Q7YZA2, Q7Z6E9, Q80YR5, Q86US8
Diamond homologs: A2CEZ5, A2RV70, F1MJM0, O43823, O88291, Q28F29, Q5BKZ1, Q5RCA4, Q5VK71, Q5ZJ02, Q63014, Q9DBR0, Q9R0L7, Q9ULX6
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AKAP8L | up-regulates | mRNA_nuclear_export | |
| AKAP8L | “up-regulates activity” | DHX9 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
115 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 94 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2868 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:15380511:CCTCA:C | donor_loss | 1.0000 |
| 19:15380512:CTCAC:C | donor_loss | 1.0000 |
| 19:15380513:TCA:T | donor_loss | 1.0000 |
| 19:15380514:CACCT:C | donor_loss | 1.0000 |
| 19:15380516:C:CA | donor_loss | 1.0000 |
| 19:15380608:ATGAG:A | acceptor_gain | 1.0000 |
| 19:15380609:TGAG:T | acceptor_gain | 1.0000 |
| 19:15380613:C:CC | acceptor_gain | 1.0000 |
| 19:15397145:CTCA:C | donor_loss | 1.0000 |
| 19:15397146:TCA:T | donor_loss | 1.0000 |
| 19:15397147:CA:C | donor_loss | 1.0000 |
| 19:15397148:A:AC | donor_gain | 1.0000 |
| 19:15397148:AC:A | donor_gain | 1.0000 |
| 19:15397148:ACC:A | donor_gain | 1.0000 |
| 19:15397149:C:CC | donor_gain | 1.0000 |
| 19:15397149:CC:C | donor_gain | 1.0000 |
| 19:15397149:CCC:C | donor_gain | 1.0000 |
| 19:15397149:CCCT:C | donor_gain | 1.0000 |
| 19:15397149:CCCTG:C | donor_gain | 1.0000 |
| 19:15397276:AATTT:A | acceptor_gain | 1.0000 |
| 19:15397277:ATTT:A | acceptor_gain | 1.0000 |
| 19:15397278:TTT:T | acceptor_gain | 1.0000 |
| 19:15397278:TTTCT:T | acceptor_loss | 1.0000 |
| 19:15397279:TT:T | acceptor_gain | 1.0000 |
| 19:15397280:TCTG:T | acceptor_loss | 1.0000 |
| 19:15397281:C:CA | acceptor_loss | 1.0000 |
| 19:15397281:C:CC | acceptor_gain | 1.0000 |
| 19:15397282:T:G | acceptor_loss | 1.0000 |
| 19:15397516:TCA:T | donor_loss | 1.0000 |
| 19:15397517:CACCC:C | donor_loss | 1.0000 |
AlphaMissense
4280 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:15380416:G:C | F549L | 1.000 |
| 19:15380416:G:T | F549L | 1.000 |
| 19:15380418:A:G | F549L | 1.000 |
| 19:15380521:A:G | L543P | 1.000 |
| 19:15380533:A:G | L539P | 1.000 |
| 19:15380560:A:G | L530P | 1.000 |
| 19:15380560:A:T | L530H | 1.000 |
| 19:15380563:A:C | I529S | 1.000 |
| 19:15380563:A:G | I529T | 1.000 |
| 19:15380563:A:T | I529N | 1.000 |
| 19:15380565:A:C | S528R | 1.000 |
| 19:15380565:A:T | S528R | 1.000 |
| 19:15380567:T:G | S528R | 1.000 |
| 19:15380572:G:T | A526D | 1.000 |
| 19:15380573:C:G | A526P | 1.000 |
| 19:15380592:C:A | K519N | 1.000 |
| 19:15380592:C:G | K519N | 1.000 |
| 19:15380597:A:G | S518P | 1.000 |
| 19:15397154:C:G | R511P | 1.000 |
| 19:15397165:G:C | H507Q | 1.000 |
| 19:15397165:G:T | H507Q | 1.000 |
| 19:15397167:G:C | H507D | 1.000 |
| 19:15397183:A:C | H501Q | 1.000 |
| 19:15397183:A:T | H501Q | 1.000 |
| 19:15397185:G:C | H501D | 1.000 |
| 19:15397185:G:T | H501N | 1.000 |
| 19:15397214:A:T | I491N | 1.000 |
| 19:15397220:A:G | L489P | 1.000 |
| 19:15397225:G:C | C487W | 1.000 |
| 19:15397226:C:A | C487F | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000006524 (19:15390289 C>T), RS1000076362 (19:15408840 C>T), RS1000207351 (19:15380443 G>T), RS1000285549 (19:15390114 TA>T,TAA), RS1000377937 (19:15419374 C>T), RS1000407446 (19:15419191 G>A), RS1000503386 (19:15391216 TTTG>T), RS1000572338 (19:15389983 C>G), RS1000628408 (19:15415451 T>A), RS1000725278 (19:15397906 A>G), RS1000782953 (19:15396469 T>G), RS1000835224 (19:15396167 C>A,T), RS1000907276 (19:15420679 G>A,C), RS1000922626 (19:15415219 A>C), RS1001011102 (19:15385091 C>A)
Disease associations
OMIM: gene MIM:609475 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002403_282 | Red blood cell count | 3.000000e-15 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066358 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.80 | Kd | 1590 | nM | CHEMBL5653589 |
| 5.76 | ED50 | 1729 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147830: Binding affinity to human AKAP8L incubated for 45 mins by Kinobead based pull down assay | kd | 1.5897 | uM |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, affects cotreatment, decreases expression | 4 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| deoxynivalenol | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| methacrylaldehyde | increases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Air Pollutants | increases abundance, increases expression, affects cotreatment | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5650872 | Binding | Binding affinity to human AKAP8L incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.