PIK3AP1

Summary

PIK3AP1 (phosphoinositide-3-kinase adaptor protein 1, HGNC:30034) is a protein-coding gene on chromosome 10q24.1, encoding Phosphoinositide 3-kinase adapter protein 1 (Q6ZUJ8). Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway.

Predicted to enable phosphatidylinositol 3-kinase regulatory subunit binding activity and signaling receptor binding activity. Predicted to be involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; regulation of inflammatory response; and regulation of innate immune response. Predicted to be located in membrane. Predicted to be active in cytosol.

Source: NCBI Gene 118788 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 512 total
• MANE Select transcript: NM_152309

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30034
Approved symbol	PIK3AP1
Name	phosphoinositide-3-kinase adaptor protein 1
Location	10q24.1
Locus type	gene with protein product
Status	Approved
Aliases	BCAP, FLJ35564
Ensembl gene	ENSG00000155629
Ensembl biotype	protein_coding
OMIM	607942
Entrez	118788

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000339364, ENST00000371109, ENST00000371110, ENST00000467625, ENST00000468783, ENST00000489982, ENST00000866991, ENST00000866992, ENST00000866993, ENST00000866994

RefSeq mRNA: 1 — MANE Select: NM_152309 NM_152309

CCDS: CCDS31259

Canonical transcript exons

ENST00000339364 — 17 exons

Exon	Start	End
ENSE00001097389	96620352	96620557
ENSE00001219670	96623472	96623537
ENSE00001390830	96593315	96595634
ENSE00001413744	96709567	96709983
ENSE00001416059	96720382	96720514
ENSE00001454388	96626708	96626905
ENSE00003485673	96645473	96645662
ENSE00003494593	96651509	96651651
ENSE00003495139	96648659	96648855
ENSE00003499253	96616639	96616711
ENSE00003605765	96656798	96656934
ENSE00003632372	96651248	96651380
ENSE00003640408	96628398	96628493
ENSE00003642088	96603979	96604049
ENSE00003650867	96609712	96609867
ENSE00003681171	96602280	96602398
ENSE00003693960	96652698	96652842

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 98.38.

FANTOM5 (CAGE): breadth broad, TPM avg 12.6350 / max 359.7405, expressed in 558 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110906	9.8560	515
110900	1.1414	118
110907	0.7392	289
110905	0.4069	164
110908	0.2394	108
110901	0.0960	36
110898	0.0569	26
110899	0.0408	21
110902	0.0325	13
110878	0.0259	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	98.38	gold quality
epithelial cell of pancreas	CL:0000083	97.37	gold quality
monocyte	CL:0000576	97.08	gold quality
leukocyte	CL:0000738	96.97	gold quality
pancreatic ductal cell	CL:0002079	95.80	silver quality
ileal mucosa	UBERON:0000331	95.59	gold quality
vermiform appendix	UBERON:0001154	95.35	gold quality
blood	UBERON:0000178	95.05	gold quality
trabecular bone tissue	UBERON:0002483	94.80	gold quality
bone marrow	UBERON:0002371	93.87	gold quality
granulocyte	CL:0000094	93.34	gold quality
liver	UBERON:0002107	92.54	gold quality
bone marrow cell	CL:0002092	92.18	gold quality
lymph node	UBERON:0000029	91.86	gold quality
tonsil	UBERON:0002372	91.26	gold quality
epithelium of nasopharynx	UBERON:0001951	91.25	gold quality
spleen	UBERON:0002106	90.40	gold quality
gall bladder	UBERON:0002110	90.25	gold quality
right lobe of liver	UBERON:0001114	90.20	gold quality
decidua	UBERON:0002450	87.86	gold quality
placenta	UBERON:0001987	87.82	gold quality
islet of Langerhans	UBERON:0000006	87.70	gold quality
caecum	UBERON:0001153	86.84	gold quality
palpebral conjunctiva	UBERON:0001812	86.33	gold quality
visceral pleura	UBERON:0002401	85.36	gold quality
pancreas	UBERON:0001264	85.26	gold quality
kidney epithelium	UBERON:0004819	83.28	silver quality
body of pancreas	UBERON:0001150	82.82	gold quality
tibia	UBERON:0000979	82.75	gold quality
superficial temporal artery	UBERON:0001614	82.66	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	18.53
E-MTAB-9067	yes	13.32
E-CURD-122	yes	4.95

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ZNF804A

miRNA regulators (miRDB)

120 targeting PIK3AP1, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
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-4482-3P	99.98	72.50	3147
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-302E	99.96	70.74	2669

Literature-anchored findings (GeneRIF, showing 6)

• Abi-1 promotes Abl-mediated BCAP phosphorylation and suggest that Abi-1 in general coordinates kinase-substrate interactions (PMID:15893754)
• Dimeric BCAP associates with the TIR domains of TLR2/4 and MAL/TIRAP, suggesting that it is recruited to the TLR signalosome by multitypic TIR-TIR interactions. (PMID:27909057)
• induction of BCAP serves as a positive feedback circuit to enhance PI3K signaling in activated CD8(+) T cells, thereby acting as a molecular checkpoint regulating effector and memory T cell development. (PMID:30093532)
• PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome. (PMID:32793186)
• Overexpression of long non-coding RNA WT1-AS or silencing of PIK3AP1 are inhibitory to cervical cancer progression. (PMID:34839795)
• MiR-1246 regulates the PI3K/AKT signaling pathway by targeting PIK3AP1 and inhibits thyroid cancer cell proliferation and tumor growth. (PMID:34870753)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pik3ap1	ENSDARG00000078285
mus_musculus	Pik3ap1	ENSMUSG00000025017
rattus_norvegicus	Pik3ap1	ENSRNOG00000013309
drosophila_melanogaster	stumps	FBGN0020299

Paralogs (1): BANK1 (ENSG00000153064)

Protein

Protein identifiers

Phosphoinositide 3-kinase adapter protein 1 — Q6ZUJ8 (reviewed: Q6ZUJ8)

Alternative names: B-cell adapter for phosphoinositide 3-kinase, B-cell phosphoinositide 3-kinase adapter protein 1

All UniProt accessions (1): Q6ZUJ8

UniProt curated annotations — full annotation on UniProt →

Function. Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Alternatively, links Toll-like receptor (TLR) signaling to PI3K activation, a process preventing excessive inflammatory cytokine production. Also involved in the activation of PI3K in natural killer cells. May be involved in the survival of mature B-cells via activation of REL.

Subunit / interactions. Homooligomer. Interacts (phosphorylated on tyrosine residues within YXXM motifs) with PIK3R1 (via SH2 domain); required for BCR- and TLR-mediated activation of phosphoinositide 3-kinase. Interacts (via polyproline C-terminal region) with ABI1 (via SH3 domain); the interaction promotes phosphorylation of PIK3AP1 by ABL1. May interact with MYD88 and TIRAP.

Subcellular location. Cytoplasm. Cell membrane.

Tissue specificity. Expressed in natural killer (NK) cells.

Post-translational modifications. Constitutively phosphorylated. Phosphorylated on tyrosine residues in C-terminal region by ABL1. Phosphorylated on tyrosine residues within the YXXM motifs by BTK and SYK. Isoform 1 and isoform 2 are phosphorylated on tyrosine residues, most likely within the YXXM motifs, via CD19 activation. Toll-like receptor activation induces appearance of a phosphorylated form associated with membranes.

Domain organisation. The DBB domain is required for dimerization.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6ZUJ8-1	1, BCAP-L	yes
Q6ZUJ8-2	2, BCAP-S
Q6ZUJ8-3	3

RefSeq proteins (1): NP_689522* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000157	TIR_dom	Domain
IPR017893	DBB_domain	Domain
IPR035897	Toll_tir_struct_dom_sf	Homologous_superfamily
IPR041340	PIK3AP1_TIR	Domain
IPR052446	B-cell_PI3K-Signaling_Adptrs	Family

Pfam: PF14545, PF18567

UniProt features (60 total): strand 15, modified residue 11, helix 11, region of interest 6, compositionally biased region 4, sequence variant 4, splice variant 3, domain 2, chain 1, sequence conflict 1, turn 1, coiled-coil region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5FOR	X-RAY DIFFRACTION	2.5
6SWS	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZUJ8-F1	65.54	0.23

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): 263, 419, 444, 459, 513, 553, 570, 594, 642, 694, 718

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-1257604	PIP3 activates AKT signaling
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-983695	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
R-HSA-1280218	Adaptive Immune System
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-168256	Immune System
R-HSA-199418	Negative regulation of the PI3K/AKT network
R-HSA-2219528	PI3K/AKT Signaling in Cancer
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-9006925	Intracellular signaling by second messengers
R-HSA-983705	Signaling by the B Cell Receptor (BCR)

MSigDB gene sets: 301 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_TOLL_LIKE_RECEPTOR_9_SIGNALING_PATHWAY, CMYB_01, MAZ_Q6, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, FOSTER_TOLERANT_MACROPHAGE_DN, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, COATES_MACROPHAGE_M1_VS_M2_UP, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION

GO Biological Process (7): toll-like receptor 2 signaling pathway (GO:0034134), toll-like receptor 4 signaling pathway (GO:0034142), toll-like receptor 7 signaling pathway (GO:0034154), toll-like receptor 9 signaling pathway (GO:0034162), regulation of inflammatory response (GO:0050727), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), signal transduction (GO:0007165)

GO Molecular Function (4): signaling receptor binding (GO:0005102), phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Intracellular signaling by second messengers	1
PI3K/AKT Signaling in Cancer	1
Negative regulation of the PI3K/AKT network	1
Signaling by the B Cell Receptor (BCR)	1
Immune System	1
PIP3 activates AKT signaling	1
Diseases of signal transduction by growth factor receptors and second messengers	1
Disease	1
Signal Transduction	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cell surface toll-like receptor signaling pathway	2
endolysosomal toll-like receptor signaling pathway	2
protein binding	2
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
positive regulation of intracellular signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
phosphatidylinositol 3-kinase binding	1
binding	1
cytoplasm	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PIK3AP1	PIK3R1	P27986	604
PIK3AP1	REL	Q04864	473
PIK3AP1	SNRK	Q9NRH2	455
PIK3AP1	FYN	P06241	443
PIK3AP1	PIK3R5	Q8WYR1	439
PIK3AP1	OSBPL10	Q9BXB5	430
PIK3AP1	ITPR2	Q14571	429
PIK3AP1	ANK1	P16157	414
PIK3AP1	ANK2	Q01484	412
PIK3AP1	ANK3	Q12955	410
PIK3AP1	PXK	Q7Z7A4	407
PIK3AP1	THEMIS2	Q5TEJ8	405
PIK3AP1	ITGA7	Q13683	404
PIK3AP1	HACD4	Q5VWC8	401
PIK3AP1	STRADB	Q9C0K7	397

IntAct

26 interactions, top by confidence:

A	B	Type	Score
PIK3AP1	GRB2	psi-mi:“MI:0915”(physical association)	0.840
NCK1	WASL	psi-mi:“MI:0914”(association)	0.740
GRB2	WIPF3	psi-mi:“MI:0914”(association)	0.730
NCK2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.640
WNT7A	LDLR	psi-mi:“MI:0914”(association)	0.530
GRB2	ARHGEF35	psi-mi:“MI:0914”(association)	0.530
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
NCK1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
PIK3AP1	Dlg4	psi-mi:“MI:0407”(direct interaction)	0.440
PIK3AP1	Prkcd	psi-mi:“MI:0914”(association)	0.350
CEP170	FAM171A2	psi-mi:“MI:0914”(association)	0.350
SCCPDH	IPO5	psi-mi:“MI:0914”(association)	0.350
SH3KBP1	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
ITSN1	PIK3AP1	psi-mi:“MI:0915”(physical association)	0.000
clpB	PIK3AP1	psi-mi:“MI:0915”(physical association)	0.000
PIK3AP1		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (41): PIK3AP1 (Affinity Capture-MS), NCK2 (Two-hybrid), PIK3AP1 (Affinity Capture-MS), PIK3AP1 (Affinity Capture-MS), PIK3AP1 (Affinity Capture-MS), PIK3AP1 (Affinity Capture-MS), PIK3AP1 (Affinity Capture-MS), PIK3AP1 (Co-crystal Structure), MYD88 (Affinity Capture-Western), TIRAP (Affinity Capture-Western), TLR2 (Affinity Capture-Western), TLR4 (Affinity Capture-Western), SARM1 (Affinity Capture-Western), PLCG2 (Affinity Capture-Western), LYN (Affinity Capture-Western)

ESM2 similar proteins: A0A1B0GVS7, A2CE83, A2VDU1, A5D992, A8KBE0, O43597, O43609, O43610, P28290, Q02223, Q08AD1, Q08E39, Q14CH0, Q1L0X2, Q2PFN5, Q2TBG9, Q3UUD2, Q4R815, Q5R959, Q5RGQ8, Q5TB30, Q66H35, Q6AYK4, Q6DD45, Q6GPM0, Q6NRB7, Q6P995, Q6PEM6, Q6ZUJ8, Q7ZX27, Q866R9, Q86VY9, Q8BGN6, Q8C3K5, Q8C817, Q8IYD9, Q8N957, Q96HH4, Q9BZD6, Q9C004

Diamond homologs: E9Q394, F1M3G7, Q6ZUJ8, Q9DDT2, Q9EQ32

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
PIK3AP1	up-regulates	PIK3CA	binding
PIK3AP1	up-regulates	PIK3CB	binding
PIK3AP1	up-regulates	PIK3CG	binding
PIK3AP1	up-regulates	PIK3R1	binding
PIK3AP1	up-regulates	PI3K	binding
ZNF804A	“up-regulates quantity by expression”	PIK3AP1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 19 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
Clathrin-mediated endocytosis	5	32.8×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	272
Likely benign	190
Benign	32

Top pathogenic / likely-pathogenic (0)

SpliceAI

2600 predictions. Top by Δscore:

Variant	Effect	Δscore
10:96609706:GCTCA:G	donor_loss	1.0000
10:96609707:CTCAC:C	donor_loss	1.0000
10:96609708:TCAC:T	donor_loss	1.0000
10:96609709:CACT:C	donor_loss	1.0000
10:96609710:A:AC	donor_gain	1.0000
10:96609711:C:CC	donor_gain	1.0000
10:96609711:C:CG	donor_loss	1.0000
10:96609711:CTTG:C	donor_gain	1.0000
10:96616638:CCTGT:C	donor_gain	1.0000
10:96620348:TTAC:T	donor_loss	1.0000
10:96620349:TA:T	donor_loss	1.0000
10:96620350:A:AG	donor_loss	1.0000
10:96620351:CC:C	donor_loss	1.0000
10:96620351:CCTG:C	donor_gain	1.0000
10:96623467:CTTA:C	donor_loss	1.0000
10:96623468:TTAC:T	donor_loss	1.0000
10:96623469:TA:T	donor_loss	1.0000
10:96623470:A:T	donor_loss	1.0000
10:96623534:AAAA:A	acceptor_gain	1.0000
10:96623535:AAA:A	acceptor_gain	1.0000
10:96623536:AA:A	acceptor_gain	1.0000
10:96623538:C:CC	acceptor_gain	1.0000
10:96626902:TTGC:T	acceptor_gain	1.0000
10:96626903:TGC:T	acceptor_gain	1.0000
10:96626904:GC:G	acceptor_gain	1.0000
10:96626905:CC:C	acceptor_gain	1.0000
10:96626905:CCTA:C	acceptor_loss	1.0000
10:96626906:C:CC	acceptor_gain	1.0000
10:96626906:CT:C	acceptor_loss	1.0000
10:96626907:T:C	acceptor_loss	1.0000

AlphaMissense

5303 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:96616695:A:G	L653P	1.000
10:96620397:C:A	W632C	1.000
10:96620397:C:G	W632C	1.000
10:96620399:A:G	W632R	1.000
10:96620399:A:T	W632R	1.000
10:96620407:A:G	F629S	1.000
10:96620470:A:G	L608P	1.000
10:96648708:G:T	A379D	1.000
10:96648720:G:T	P375H	1.000
10:96648777:A:G	L356P	1.000
10:96648792:A:G	L351P	1.000
10:96648801:A:G	L348P	1.000
10:96651334:A:G	L301P	1.000
10:96651343:T:A	D298V	1.000
10:96651344:C:G	D298H	1.000
10:96616704:A:G	L650P	0.999
10:96620398:C:G	W632S	0.999
10:96620406:G:C	F629L	0.999
10:96620406:G:T	F629L	0.999
10:96620408:A:G	F629L	0.999
10:96620420:C:G	A625P	0.999
10:96620461:A:G	L611P	0.999
10:96620470:A:T	L608H	0.999
10:96620476:C:G	R606P	0.999
10:96620478:C:A	Q605H	0.999
10:96620478:C:G	Q605H	0.999
10:96648684:A:G	L387P	0.999
10:96648709:C:G	A379P	0.999
10:96648720:G:C	P375R	0.999
10:96648721:G:A	P375S	0.999

dbSNP variants (sampled 300 via entrez): RS1000009865 (10:96661234 A>G), RS1000030367 (10:96667700 A>C,G), RS1000039208 (10:96660648 C>T), RS1000042360 (10:96626187 G>T), RS1000045163 (10:96616276 G>T), RS1000073275 (10:96639777 A>C), RS1000077681 (10:96616723 T>A,C,G), RS1000144791 (10:96700749 T>C), RS1000203773 (10:96622625 C>T), RS1000240376 (10:96609054 A>G), RS1000273787 (10:96694445 G>A,C), RS1000287076 (10:96711905 C>G,T), RS1000291116 (10:96608937 A>G), RS1000303218 (10:96681145 T>G), RS1000311181 (10:96667418 G>A)

Disease associations

OMIM: gene MIM:607942 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST002209_2	Orthostatic hypotension	5.000000e-06
GCST004609_16	Monocyte percentage of white cells	3.000000e-09
GCST005998_21	Alanine transaminase levels	8.000000e-09
GCST010485_7	Platelet reactivity in response to clopidogrel treatment	1.000000e-33
GCST011352_36	Alanine aminotransferase levels	2.000000e-11
GCST90002388_571	Lymphocyte count	4.000000e-11
GCST90002389_452	Lymphocyte percentage of white cells	3.000000e-11
GCST90002393_336	Monocyte count	1.000000e-14
GCST90002394_451	Monocyte percentage of white cells	2.000000e-10
GCST90002394_452	Monocyte percentage of white cells	5.000000e-15
GCST90011898_78	Alanine aminotransferase levels	1.000000e-14
GCST90011899_109	Aspartate aminotransferase levels	6.000000e-10
GCST90013405_16	Liver enzyme levels (alanine transaminase)	4.000000e-14

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007989	monocyte percentage of leukocytes
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0005091	monocyte count
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	4
Cyclosporine	decreases expression	3
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Valproic Acid	decreases expression, increases expression	2
Aflatoxin B1	affects expression, increases methylation	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
dicrotophos	decreases expression	1
methyleugenol	decreases expression	1
bisphenol A	decreases methylation	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	increases abundance, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
entinostat	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
nutlin 3	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	increases methylation	1
Acetaminophen	decreases expression	1
Arsenic	increases abundance, increases expression	1
Camptothecin	increases expression	1
Chelating Agents	affects binding, decreases expression	1
Cisplatin	increases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7X6	Ubigene A-549 PIK3AP1 KO	Cancer cell line	Male
CVCL_D8SL	Ubigene HCT 116 PIK3AP1 KO	Cancer cell line	Male
CVCL_D9N4	Ubigene HEK293 PIK3AP1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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