AKAP11

Summary

AKAP11 (A-kinase anchoring protein 11, HGNC:369) is a protein-coding gene on chromosome 13q14.11, encoding A-kinase anchor protein 11 (Q9UKA4). Binds to type II regulatory subunits of protein kinase A and anchors/targets them.

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. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function.

Source: NCBI Gene 11215 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 308 total — 7 pathogenic
• MANE Select transcript: NM_016248

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:369
Approved symbol	AKAP11
Name	A-kinase anchoring protein 11
Location	13q14.11
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44
Ensembl gene	ENSG00000023516
Ensembl biotype	protein_coding
OMIM	604696
Entrez	11215

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000025301, ENST00000938569, ENST00000938570, ENST00000938571, ENST00000938572, ENST00000938573, ENST00000938574

RefSeq mRNA: 1 — MANE Select: NM_016248 NM_016248

CCDS: CCDS9383

Canonical transcript exons

ENST00000025301 — 13 exons

Exon	Start	End
ENSE00000490383	42308454	42308609
ENSE00000681175	42317528	42317688
ENSE00000681178	42313894	42313940
ENSE00000681181	42313047	42313130
ENSE00000681187	42299363	42303863
ENSE00000681195	42298533	42298797
ENSE00000681216	42297048	42297182
ENSE00000681228	42295695	42295742
ENSE00000681231	42292385	42292501
ENSE00000817242	42286300	42286399
ENSE00000817243	42319088	42323261
ENSE00001001652	42285986	42286035
ENSE00001274939	42272152	42272228

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 98.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5013 / max 162.8225, expressed in 1679 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134871	7.0809	1626
134868	2.4204	921

Top tissues by expression

300 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 46	UBERON:0006483	98.34	gold quality
postcentral gyrus	UBERON:0002581	98.15	gold quality
orbitofrontal cortex	UBERON:0004167	98.11	gold quality
parietal lobe	UBERON:0001872	97.75	gold quality
pons	UBERON:0000988	97.59	gold quality
frontal pole	UBERON:0002795	97.28	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.25	gold quality
dorsal plus ventral thalamus	UBERON:0001897	97.20	gold quality
subthalamic nucleus	UBERON:0001906	97.15	gold quality
superior frontal gyrus	UBERON:0002661	97.02	gold quality
middle frontal gyrus	UBERON:0002702	96.97	gold quality
CA1 field of hippocampus	UBERON:0003881	96.95	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.69	gold quality
superior vestibular nucleus	UBERON:0007227	96.63	gold quality
paraflocculus	UBERON:0005351	96.50	gold quality
lateral globus pallidus	UBERON:0002476	96.24	gold quality
entorhinal cortex	UBERON:0002728	96.22	gold quality
medulla oblongata	UBERON:0001896	95.95	gold quality
substantia nigra pars compacta	UBERON:0001965	95.89	gold quality
caput epididymis	UBERON:0004358	95.86	gold quality
corpus callosum	UBERON:0002336	95.78	gold quality
corpus epididymis	UBERON:0004359	95.72	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.65	gold quality
cauda epididymis	UBERON:0004360	95.50	gold quality
inferior vagus X ganglion	UBERON:0005363	95.42	gold quality
seminal vesicle	UBERON:0000998	94.87	gold quality
cranial nerve II	UBERON:0000941	94.85	gold quality
choroid plexus epithelium	UBERON:0003911	94.77	gold quality
oocyte	CL:0000023	94.70	gold quality
secondary oocyte	CL:0000655	94.64	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

218 targeting AKAP11, 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-MIR-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-2110	99.96	66.68	1930

Literature-anchored findings (GeneRIF, showing 7)

• binds to glycogen synthase kinase-3beta (GSK-3beta) and mediates protein kinase A-dependent inhibition of GSK-3beta (PMID:12147701)
• AKAP220 protein organizes signaling elements that impact cell migration. (PMID:21890631)
• PKA compartmentalization via AKAP220 and AKAP12 contributes to endothelial barrier regulation. (PMID:25188285)
• Protein Kinase A Opposes the Phosphorylation-dependent Recruitment of Glycogen Synthase Kinase 3beta to A-kinase Anchoring Protein 220. (PMID:26088133)
• AKAP11 gene (rs9533090) influences QUS trait in a population of Caucasian young adults. The rs9533090 SNP may be considered a factor affecting peak bone mass acquisition. (PMID:30013441)
• Selective autophagy of AKAP11 activates cAMP/PKA to fuel mitochondrial metabolism and tumor cell growth. (PMID:33785595)
• Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. (PMID:35410376)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	akap11	ENSDARG00000075435
mus_musculus	Akap11	ENSMUSG00000022016
rattus_norvegicus	Akap11	ENSRNOG00000009987

Paralogs (3): AKAP3 (ENSG00000111254), AKAP4 (ENSG00000147081), SPHKAP (ENSG00000153820)

Protein

Protein identifiers

A-kinase anchor protein 11 — Q9UKA4 (reviewed: Q9UKA4)

Alternative names: A-kinase anchor protein 220 kDa, Protein kinase A-anchoring protein 11

All UniProt accessions (1): Q9UKA4

UniProt curated annotations — full annotation on UniProt →

Function. Binds to type II regulatory subunits of protein kinase A and anchors/targets them.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Tissue specificity. Expressed in heart, brain, lung, liver, kidney, testis and ovary. Weakly expressed in skeletal muscle, pancreas and spleen.

Domain organisation. RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.

Similarity. Belongs to the AKAP110 family.

RefSeq proteins (1): NP_057332* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008382	SPHK1-interactor_AKAP_110	Family

UniProt features (31 total): modified residue 14, region of interest 6, compositionally biased region 5, sequence variant 3, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKA4-F1	45.85	0.03

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 (14): 18, 422, 433, 444, 448, 981, 1100, 1171, 1176, 1177, 1242, 1337, 1485, 1580

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 196 (showing top): TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, GOBP_RENAL_WATER_HOMEOSTASIS, ACATTCC_MIR1_MIR206, HNF4_01, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, LEE_LIVER_CANCER_ACOX1_DN, LEE_LIVER_CANCER_E2F1_DN, RIGGINS_TAMOXIFEN_RESISTANCE_DN, GOBP_REGULATION_OF_BODY_FLUID_LEVELS, GOBP_CORTICAL_CYTOSKELETON_ORGANIZATION

GO Biological Process (6): renal water homeostasis (GO:0003091), cell surface receptor protein serine/threonine kinase signaling pathway (GO:0007178), intracellular protein localization (GO:0008104), cortical actin cytoskeleton organization (GO:0030866), intracellular signal transduction (GO:0035556), protein localization to endosome (GO:0036010)

GO Molecular Function (4): protein phosphatase 1 binding (GO:0008157), protein kinase A regulatory subunit binding (GO:0034237), protein kinase A binding (GO:0051018), protein binding (GO:0005515)

GO Cellular Component (6): nucleolus (GO:0005730), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	2
intracellular membraneless organelle	2
cellular anatomical structure	2
renal system process	1
multicellular organismal-level water homeostasis	1
enzyme-linked receptor protein signaling pathway	1
macromolecule localization	1
actin cytoskeleton organization	1
cortical cytoskeleton organization	1
signal transduction	1
protein localization to organelle	1
protein phosphatase binding	1
protein kinase A binding	1
protein binding	1
binding	1
nuclear lumen	1
centriole	1
microtubule organizing center	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AKAP11	IQGAP2	Q13576	890
AKAP11	AKAP1	Q92667	856
AKAP11	IRX3	P78415	731
AKAP11	IRX4	P78413	729
AKAP11	PRKACB	P22694	719
AKAP11	PRKACA	P17612	717
AKAP11	PRKACG	P22612	712
AKAP11	AKAP8	O43823	698
AKAP11	IRX2	Q9BZI1	697
AKAP11	IRX1	P78414	664
AKAP11	IQGAP1	P46940	652
AKAP11	AKAP13	Q12802	643
AKAP11	AKAP10	O43572	635
AKAP11	AKAP7	O43687	633
AKAP11	GPC5	P78333	607

IntAct

165 interactions, top by confidence:

A	B	Type	Score
GSK3B	AXIN1	psi-mi:“MI:0914”(association)	0.980
GSK3A	AXIN1	psi-mi:“MI:0914”(association)	0.800
PRKACB	PRKAR1A	psi-mi:“MI:0914”(association)	0.790
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
PRKACA	VAPB	psi-mi:“MI:0914”(association)	0.730
	PRKAR1A	psi-mi:“MI:0914”(association)	0.700
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
VAPA	PITPNM1	psi-mi:“MI:0914”(association)	0.640
TSPYL1	PCM1	psi-mi:“MI:0914”(association)	0.640
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
AKAP11	LITAF	psi-mi:“MI:0915”(physical association)	0.560
PRKACB	PRKAR1A	psi-mi:“MI:0914”(association)	0.550
GSK3A	AKAP11	psi-mi:“MI:0915”(physical association)	0.550
RABGGTB	PIPSL	psi-mi:“MI:0914”(association)	0.530
ERMAP	AP3B1	psi-mi:“MI:0914”(association)	0.530
MLF1	NDC80	psi-mi:“MI:0914”(association)	0.530
PRKAR1A	AKAP3	psi-mi:“MI:0914”(association)	0.530
TSPYL1	GPC3	psi-mi:“MI:0914”(association)	0.530

BioGRID (179): AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), AKAP11 (Proximity Label-MS), AKAP11 (Affinity Capture-MS)

ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A2AGB2, A2AKX3, A2ALV5, A6QNQ6, A8MT70, B0S6S9, B1WC58, D3Z987, F6SNN2, P56716, P70347, Q0P5X5, Q28FY7, Q2M2Z5, Q3U0P1, Q3V089, Q5CZC0, Q5DTT3, Q5RCM2, Q5T1N1, Q5T4T6, Q5VWN6, Q5VXU9, Q5W0Q7, Q69ZR9, Q6ZP01, Q7Z333, Q7Z4H7, Q7ZZH7, Q80WQ8, Q86V20, Q86YC2, Q8CCC3, Q8R3P9, Q8WP21, Q92844, Q96QP1

Diamond homologs: O35774, O75969, O77797, O88987, P0C6C0, Q1LV19, Q2M3C7, Q5JQC9, Q60662, Q6NSW3, Q9UKA4, Q62924

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
GSK3B	“down-regulates activity”	AKAP11	phosphorylation
AKAP11	“down-regulates activity”	GSK3B	binding
AKAP11	“up-regulates activity”	IQGAP2	binding
AKAP11	“up-regulates quantity”	PKA	binding
AKAP11	“down-regulates activity”	PKA	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 167 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
Activation of BAD and translocation to mitochondria	7	47.6×	2e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	42.0×	2e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	42.0×	2e-08
PKA activation in glucagon signalling	6	36.0×	8e-07
PKA activation	6	34.0×	1e-06
Rap1 signalling	5	31.9×	1e-05
Activation of BH3-only proteins	7	31.0×	2e-07
PKA-mediated phosphorylation of CREB	6	30.6×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
vascular endothelial cell response to laminar fluid shear stress	6	29.3×	1e-05
renal water homeostasis	6	20.4×	8e-05
protein targeting	7	17.1×	4e-05
mitophagy	7	14.8×	8e-05
autophagosome maturation	6	14.0×	5e-04
autophagosome assembly	7	10.5×	5e-04
intracellular protein localization	13	9.1×	1e-06
positive regulation of protein ubiquitination	6	8.5×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

308 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	0
Uncertain significance	256
Likely benign	17
Benign	9

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	Pathogenic
152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	Pathogenic
3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	Pathogenic
3391920	GRCh37/hg19 13q12.3-14.3(chr13:32076445-54495559)x1	Pathogenic
4279415	GRCh37/hg19 13q13.1-21.32(chr13:33738980-68435696)x1	Pathogenic
564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	Pathogenic
59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	Pathogenic

SpliceAI

2075 predictions. Top by Δscore:

Variant	Effect	Δscore
13:42286395:GAAAA:G	donor_gain	1.0000
13:42286396:AAAA:A	donor_gain	1.0000
13:42286397:AAA:A	donor_gain	1.0000
13:42286399:AG:A	donor_loss	1.0000
13:42286400:G:GG	donor_gain	1.0000
13:42286401:TAA:T	donor_loss	1.0000
13:42292478:GA:G	donor_gain	1.0000
13:42292479:A:G	donor_gain	1.0000
13:42295739:ACAGG:A	donor_loss	1.0000
13:42295741:AGGTA:A	donor_loss	1.0000
13:42295742:GGT:G	donor_loss	1.0000
13:42298531:A:G	acceptor_gain	1.0000
13:42298532:GA:G	acceptor_gain	1.0000
13:42298734:G:GT	donor_gain	1.0000
13:42298770:G:GT	donor_gain	1.0000
13:42298794:GATG:G	donor_gain	1.0000
13:42298795:ATGGT:A	donor_loss	1.0000
13:42298796:TGG:T	donor_loss	1.0000
13:42298797:GGTT:G	donor_loss	1.0000
13:42298798:GTTT:G	donor_loss	1.0000
13:42308448:TTTTA:T	acceptor_gain	1.0000
13:42308449:TTTA:T	acceptor_gain	1.0000
13:42308450:TTA:T	acceptor_gain	1.0000
13:42308451:TA:T	acceptor_gain	1.0000
13:42308452:A:AG	acceptor_gain	1.0000
13:42308452:AGTT:A	acceptor_gain	1.0000
13:42308453:G:C	acceptor_gain	1.0000
13:42308453:G:GA	acceptor_gain	1.0000
13:42308453:GT:G	acceptor_gain	1.0000
13:42308453:GTT:G	acceptor_gain	1.0000

AlphaMissense

12619 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:42302243:T:C	L1166P	0.996
13:42317617:T:A	W1832R	0.995
13:42317617:T:C	W1832R	0.995
13:42298738:A:T	D186V	0.994
13:42298740:T:C	F187L	0.994
13:42298742:T:A	F187L	0.994
13:42298742:T:G	F187L	0.994
13:42302140:T:C	F1132L	0.993
13:42302142:T:A	F1132L	0.993
13:42302142:T:G	F1132L	0.993
13:42299809:T:C	F355L	0.992
13:42299810:T:C	F355S	0.992
13:42299811:T:A	F355L	0.992
13:42299811:T:G	F355L	0.992
13:42313069:A:C	S1766R	0.992
13:42313071:C:A	S1766R	0.992
13:42313071:C:G	S1766R	0.992
13:42298738:A:C	D186A	0.991
13:42298738:A:G	D186G	0.991
13:42300860:T:C	L705P	0.991
13:42313060:A:C	S1763R	0.991
13:42313062:T:A	S1763R	0.991
13:42313062:T:G	S1763R	0.991
13:42313063:A:C	S1764R	0.991
13:42313065:C:A	S1764R	0.991
13:42313065:C:G	S1764R	0.991
13:42313072:A:C	S1767R	0.991
13:42313074:T:A	S1767R	0.991
13:42313074:T:G	S1767R	0.991
13:42298741:T:C	F187S	0.990

dbSNP variants (sampled 300 via entrez): RS1000093202 (13:42310490 A>C), RS1000225085 (13:42291475 A>C), RS1000289280 (13:42297421 A>C), RS1000301739 (13:42285304 G>A,C), RS1000333971 (13:42285104 CGGT>C), RS1000447231 (13:42290824 C>T), RS1000545194 (13:42316603 C>T), RS1000552869 (13:42310811 A>G), RS1000636708 (13:42272352 C>G,T), RS1000691265 (13:42278665 T>G), RS1000705423 (13:42323037 T>C), RS1000721838 (13:42278336 T>C), RS1000900016 (13:42309165 T>G), RS1000990043 (13:42273545 A>G), RS1001043355 (13:42319464 GA>G)

Disease associations

OMIM: gene MIM:604696 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST000494_2	Bone mineral density (spine)	5.000000e-25
GCST001482_34	Lumbar spine bone mineral density	5.000000e-68
GCST002276_15	Bone mineral density	3.000000e-07
GCST003943_3	Hepcidin levels	5.000000e-07
GCST004131_133	Inflammatory bowel disease	6.000000e-06
GCST004132_54	Crohn’s disease	4.000000e-08
GCST005796_23	Lumbar spine bone mineral density	6.000000e-18
GCST006409_16	Allergic rhinitis	1.000000e-10
GCST007014_6	Lumbar spine bone mineral density (trabecular)	1.000000e-11
GCST007015_15	Lumbar spine bone mineral density (integral)	4.000000e-09
GCST007800_87	Asthma (childhood onset)	2.000000e-07
GCST007932_125	Medication use (thyroid preparations)	1.000000e-13
GCST007935_1	Medication use (drugs affecting bone structure and mineralization)	3.000000e-15
GCST010984_34	Allergic disease (asthma, hay fever and/or eczema) (multivariate analysis)	4.000000e-12
GCST010985_42	Allergic disease (asthma, hay fever and/or eczema) (age of onset)	4.000000e-12
GCST011353_18	Serum alkaline phosphatase levels	2.000000e-17
GCST90002398_210	Neutrophil count	2.000000e-17
GCST90002399_347	Neutrophil percentage of white cells	6.000000e-20
GCST90011900_106	Serum alkaline phosphatase levels	2.000000e-61
GCST90013445_67	Type 1 diabetes	5.000000e-09
GCST90013445_7	Type 1 diabetes	5.000000e-09
GCST90014023_2	Type 1 diabetes	2.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007701	spine bone mineral density
EFO:0007620	volumetric bone mineral density
EFO:0009933	Thyroid preparation use measurement
EFO:0009936	Drugs affecting bone structure and mineralization use measurement
EFO:0004847	age at onset
EFO:0004533	alkaline phosphatase measurement
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
2-butenal	decreases expression	1
nickel chloride	decreases expression	1
aflatoxin B2	increases methylation	1
nickel sulfate	decreases expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Clorgyline	increases expression	1
Dexamethasone	decreases expression	1
Endosulfan	decreases expression	1
Estradiol	affects expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Thimerosal	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1JC	Abcam HeLa AKAP11 KO	Cancer cell line	Female
CVCL_SC05	HAP1 AKAP11 (-) 1	Cancer cell line	Male
CVCL_SC06	HAP1 AKAP11 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.