PIP4P1

Summary

PIP4P1 (phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1, HGNC:19299) is a protein-coding gene on chromosome 14q11.2, encoding Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase (Q86T03). Catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P).

TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).

Source: NCBI Gene 90809 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 37 total
• MANE Select transcript: NM_144568

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19299
Approved symbol	PIP4P1
Name	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC26684
Ensembl gene	ENSG00000165782
Ensembl biotype	protein_coding
OMIM	609865
Entrez	90809

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 3 retained_intron

ENST00000250489, ENST00000398020, ENST00000553460, ENST00000553602, ENST00000554028, ENST00000556093, ENST00000557041, ENST00000880021, ENST00000924695, ENST00000924696, ENST00000924697

RefSeq mRNA: 2 — MANE Select: NM_144568 NM_001100814, NM_144568

CCDS: CCDS41911, CCDS9551

Canonical transcript exons

ENST00000250489 — 7 exons

Exon	Start	End
ENSE00000940571	20460655	20460845
ENSE00000940572	20460192	20460298
ENSE00000940574	20459388	20459440
ENSE00001786754	20457681	20458702
ENSE00002484591	20461184	20461434
ENSE00003460124	20459628	20459733
ENSE00003624708	20459206	20459296

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 95.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.3008 / max 297.4962, expressed in 1811 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142034	16.5672	1809
142035	0.7336	447

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	95.32	gold quality
tibialis anterior	UBERON:0001385	94.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.57	gold quality
granulocyte	CL:0000094	94.39	gold quality
right frontal lobe	UBERON:0002810	94.10	gold quality
cerebellar hemisphere	UBERON:0002245	93.98	gold quality
cerebellar cortex	UBERON:0002129	93.92	gold quality
prefrontal cortex	UBERON:0000451	93.78	gold quality
upper arm skin	UBERON:0004263	93.62	gold quality
bone marrow cell	CL:0002092	93.49	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.21	gold quality
adenohypophysis	UBERON:0002196	93.19	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.00	gold quality
cerebellum	UBERON:0002037	92.98	gold quality
right adrenal gland cortex	UBERON:0035827	92.84	gold quality
mucosa of stomach	UBERON:0001199	92.70	gold quality
spleen	UBERON:0002106	92.69	gold quality
skin of abdomen	UBERON:0001416	92.68	gold quality
skin of leg	UBERON:0001511	92.59	gold quality
body of stomach	UBERON:0001161	92.49	gold quality
right lobe of thyroid gland	UBERON:0001119	92.34	gold quality
pituitary gland	UBERON:0000007	92.28	gold quality
anterior cingulate cortex	UBERON:0009835	92.23	gold quality
transverse colon	UBERON:0001157	92.15	gold quality
islet of Langerhans	UBERON:0000006	92.13	gold quality
left lobe of thyroid gland	UBERON:0001120	92.06	gold quality
cortical plate	UBERON:0005343	92.00	gold quality
upper lobe of left lung	UBERON:0008952	91.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.92	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting PIP4P1, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4524A-5P	99.57	71.73	1193
HSA-MIR-4524B-5P	99.57	71.68	1195
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-584-3P	99.35	67.69	1082

Literature-anchored findings (GeneRIF, showing 6)

• identification and characterization of two previously undescribed human enzymes, PtdIns-4,5-P(2) 4-phosphatase type I and type II (PMID:16365287)
• Type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase (type I 4-phosphatase), an enzyme that dephosphorylates phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P(2)), forming PtdIns-5-P in vitro, can increase the cellular levels of PtdIns-5-P. (PMID:17940011)
• Expression array profiling was performed on lymphoblastoid cell lines from statin clinical trial participants showed sterol-regulated expression of TMEM55B. Knockdown promoted LDL receptor decay and decreased its cholesterol uptake. (PMID:25035345)
• these data suggest that the TFEB/TMEM55B/JIP4 pathway coordinates lysosome movement in response to a variety of stress conditions. (PMID:29146937)
• Results suggest that TMEM55B contributes to assembly of the V-ATPase complex in lipid rafts of the lysosomal membrane and to subsequent activation of mTORC1. (PMID:29644770)
• Regulation of lysosomal positioning via TMEM55B phosphorylation. (PMID:33537719)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	pip4p1b	ENSDARG00000026387
danio_rerio	pip4p1a	ENSDARG00000038615
mus_musculus	Pip4p1	ENSMUSG00000035953
rattus_norvegicus	Pip4p1	ENSRNOG00000009948
drosophila_melanogaster	CG6707	FBGN0036058
caenorhabditis_elegans		WBGENE00018697
caenorhabditis_elegans		WBGENE00022167

Paralogs (1): PIP4P2 (ENSG00000155099)

Protein

Protein identifiers

Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase — Q86T03 (reviewed: Q86T03)

Alternative names: PtdIns-4,5-P2 4-Ptase I, Transmembrane protein 55B

All UniProt accessions (3): Q86T03, G3V5T5, H0YJ90

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P). Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate. Regulates lysosomal positioning by recruiting JIP4 to lysosomal membranes, thus inducing retrograde transport of lysosomes along microtubules. Contributes to assembly of the V-ATPase complex in lipid rafts of the lysosomal membrane and to subsequent amino acid-dependent activation of mTORC1. May play a role in the regulation of cellular cholesterol metabolism.

Subunit / interactions. Interacts (via transmembrane domain) with ATP6V0D1. Interacts with LAMTOR1. Interacts with RRAGA and RRAGC.

Subcellular location. Late endosome membrane. Lysosome membrane. Cytoplasmic vesicle. Phagosome membrane. Cell membrane.

Tissue specificity. Ubiquitous.

Induction. By sterol depletion.

Miscellaneous. May be due to intron retention.

Isoforms (3)

UniProt ID	Names	Canonical?
Q86T03-1	1	yes
Q86T03-2	2
Q86T03-3	3

RefSeq proteins (2): NP_001094284, NP_653169* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019178	PtdIns-P2-Ptase	Family

Pfam: PF09788

Enzyme classification (BRENDA):

• EC 3.1.3.78 — phosphatidylinositol-4,5-bisphosphate 4-phosphatase (BRENDA: 4 organisms, 13 substrates, 2 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate (RHEA:25674)

UniProt features (12 total): splice variant 3, transmembrane region 2, chain 1, sequence conflict 1, region of interest 1, short sequence motif 1, compositionally biased region 1, active site 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9QM9	X-RAY DIFFRACTION	1.55
8OQH	X-RAY DIFFRACTION	1.76

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86T03-F1	70.45	0.12

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 133

Post-translational modifications (1): 162

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6811555	PI5P Regulates TP53 Acetylation
R-HSA-8847453	Synthesis of PIPs in the nucleus

MSigDB gene sets: 160 (showing top): GOBP_LIPID_MODIFICATION, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOCC_VACUOLAR_MEMBRANE, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, ACATTCC_MIR1_MIR206, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_DEPHOSPHORYLATION, GOBP_LIPID_METABOLIC_PROCESS, GOBP_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION

GO Biological Process (9): phospholipid metabolic process (GO:0006644), response to sterol depletion (GO:0006991), cholesterol metabolic process (GO:0008203), lysosome localization (GO:0032418), phosphatidylinositol dephosphorylation (GO:0046856), proton-transporting V-type ATPase complex assembly (GO:0070070), regulation of signal transduction by p53 class mediator (GO:1901796), positive regulation of TORC1 signaling (GO:1904263), lipid metabolic process (GO:0006629)

GO Molecular Function (3): phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (9): nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), phagocytic vesicle membrane (GO:0030670), late endosome membrane (GO:0031902), lysosome (GO:0005764), endosome (GO:0005768), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Regulation of TP53 Activity through Acetylation	1
PI Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
lipid metabolic process	1
organophosphate metabolic process	1
response to stress	1
sterol metabolic process	1
secondary alcohol metabolic process	1
vacuolar localization	1
phosphatidylinositol metabolic process	1
phospholipid dephosphorylation	1
proton-transporting two-sector ATPase complex assembly	1
signal transduction by p53 class mediator	1
regulation of intracellular signal transduction	1
positive regulation of TOR signaling	1
TORC1 signaling	1
regulation of TORC1 signaling	1
primary metabolic process	1
phosphatidylinositol phosphate 4-phosphatase activity	1
phosphatidylinositol-4,5-bisphosphate phosphatase activity	1
binding	1
catalytic activity	1
nuclear lumen	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
endocytic vesicle membrane	1
phagocytic vesicle	1
late endosome	1
endosome membrane	1
lytic vacuole	1
endomembrane system	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

692 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PIP4P1	SPAG9	O60271	974
PIP4P1	MAPK8IP3	Q9UPT6	536
PIP4P1	MCOLN1	Q9GZU1	475
PIP4P1	ARL8B	Q9NVJ2	469
PIP4P1	ZBTB25	P24278	445
PIP4P1	ZFYVE27	Q5T4F4	445
PIP4P1	ARF6	P26438	444
PIP4P1	TFEB	P19484	432
PIP4P1	ATP6V1H	Q9UI12	423
PIP4P1	VPS33B	Q9H267	418
PIP4P1	CIB1	Q99828	411
PIP4P1	ARL5B	Q96KC2	409
PIP4P1	SEPTIN9	Q9UHD8	385
PIP4P1	RILP	Q96NA2	376
PIP4P1	ARHGAP12	Q8IWW6	376

IntAct

107 interactions, top by confidence:

A	B	Type	Score
DFFB	DFFA	psi-mi:“MI:0914”(association)	0.940
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
PIP4P1	PLEKHB2	psi-mi:“MI:0915”(physical association)	0.560
RILPL1	PIP4P1	psi-mi:“MI:0915”(physical association)	0.560
EPN2	PIP4P1	psi-mi:“MI:0915”(physical association)	0.560
SLC10A6	PIP4P1	psi-mi:“MI:0915”(physical association)	0.560
PIP4P1	YWHAG	psi-mi:“MI:0915”(physical association)	0.560
PIP4P1	SETDB1	psi-mi:“MI:0915”(physical association)	0.560
PIP4P1	KAT5	psi-mi:“MI:0915”(physical association)	0.560
LMO3	PIP4P1	psi-mi:“MI:0915”(physical association)	0.560
TMEM63A	AP3D1	psi-mi:“MI:0914”(association)	0.530
TPD52	TPD52L2	psi-mi:“MI:0914”(association)	0.530
SLC15A4	PGRMC1	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
vpu	SCAMP3	psi-mi:“MI:0914”(association)	0.460
YAP1	PIP4P1	psi-mi:“MI:0407”(direct interaction)	0.440
PIP4P1	SCGN	psi-mi:“MI:0915”(physical association)	0.400
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (109): TMEM55B (Affinity Capture-MS), TBC1D9B (Affinity Capture-MS), GLMN (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), TBC1D9B (Affinity Capture-MS), GLMN (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), TMEM55B (Affinity Capture-MS), TMEM55B (Affinity Capture-MS)

ESM2 similar proteins: B6SGC5, O95415, P0C0T0, P28662, P50636, Q32L83, Q3C2P8, Q3T0A9, Q3TWL2, Q4R5H7, Q4R6W2, Q58D45, Q5BJ83, Q5E9E8, Q5EAU3, Q5F3S2, Q5PPK1, Q5PPM8, Q5PQS5, Q5R4K6, Q5RDN2, Q5U2U6, Q5XID0, Q5XKA6, Q5Y171, Q66I51, Q66JG9, Q6DC04, Q6DIE4, Q6GMG8, Q6NYG4, Q6NYK3, Q6P828, Q7Z698, Q7Z699, Q86T03, Q8AVW3, Q8N114, Q8QGW7, Q8VIH7

Diamond homologs: Q32PR0, Q3SZ48, Q3TWL2, Q4R6W2, Q4V888, Q5EAU3, Q5PPM8, Q5XKA6, Q66I51, Q6DIE4, Q86T03, Q8N4L2, Q9CZX7

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
TFEB	“up-regulates quantity by expression”	PIP4P1	“transcriptional regulation”
TFE3	“up-regulates quantity by expression”	PIP4P1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 121 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
NCAM signaling for neurite out-growth	5	16.4×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

790 predictions. Top by Δscore:

Variant	Effect	Δscore
14:20458703:C:CC	acceptor_gain	1.0000
14:20458712:A:AC	acceptor_gain	1.0000
14:20458712:A:C	acceptor_gain	1.0000
14:20459204:A:AC	donor_gain	1.0000
14:20459205:C:CC	donor_gain	1.0000
14:20459205:CGG:C	donor_gain	1.0000
14:20459387:CA:C	donor_gain	1.0000
14:20458698:CCAAA:C	acceptor_gain	0.9900
14:20458699:CAAA:C	acceptor_gain	0.9900
14:20458699:CAAAC:C	acceptor_gain	0.9900
14:20458700:AAA:A	acceptor_gain	0.9900
14:20458706:A:AC	acceptor_gain	0.9900
14:20458706:A:C	acceptor_gain	0.9900
14:20459197:GGTAC:G	donor_loss	0.9900
14:20459198:GTAC:G	donor_loss	0.9900
14:20459199:TAC:T	donor_loss	0.9900
14:20459200:AC:A	donor_loss	0.9900
14:20459201:CT:C	donor_loss	0.9900
14:20459202:TCACG:T	donor_loss	0.9900
14:20459203:CA:C	donor_loss	0.9900
14:20459204:ACGG:A	donor_gain	0.9900
14:20459204:ACGGC:A	donor_loss	0.9900
14:20459205:C:G	donor_loss	0.9900
14:20459205:CG:C	donor_gain	0.9900
14:20459205:CGGC:C	donor_gain	0.9900
14:20459205:CGGCA:C	donor_gain	0.9900
14:20459294:GACCT:G	acceptor_loss	0.9900
14:20459295:ACCT:A	acceptor_loss	0.9900
14:20459296:CCTG:C	acceptor_loss	0.9900
14:20459297:C:CC	acceptor_gain	0.9900

AlphaMissense

1771 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:20459406:C:G	C194S	1.000
14:20459407:A:G	C194R	1.000
14:20459407:A:T	C194S	1.000
14:20459631:A:C	F181L	1.000
14:20459631:A:T	F181L	1.000
14:20459633:A:G	F181L	1.000
14:20459652:A:C	C174W	1.000
14:20459653:C:A	C174F	1.000
14:20459653:C:T	C174Y	1.000
14:20459654:A:G	C174R	1.000
14:20459722:A:T	I151N	1.000
14:20460192:C:A	C147F	1.000
14:20460192:C:G	C147S	1.000
14:20460192:C:T	C147Y	1.000
14:20460193:A:G	C147R	1.000
14:20460193:A:T	C147S	1.000
14:20460206:G:C	C142W	1.000
14:20460207:C:A	C142F	1.000
14:20460207:C:G	C142S	1.000
14:20460207:C:T	C142Y	1.000
14:20460208:A:C	C142G	1.000
14:20460208:A:G	C142R	1.000
14:20460208:A:T	C142S	1.000
14:20460213:A:C	I140S	1.000
14:20460213:A:T	I140N	1.000
14:20460222:G:A	S137F	1.000
14:20460233:G:C	C133W	1.000
14:20460234:C:T	C133Y	1.000
14:20460235:A:G	C133R	1.000
14:20460237:A:C	I132S	1.000

dbSNP variants (sampled 300 via entrez): RS1000042220 (14:20459401 G>A), RS1000440103 (14:20462969 G>A), RS1000544014 (14:20459530 G>A,C,T), RS1000930278 (14:20458274 C>G,T), RS1001883961 (14:20457680 GTTTT>G,GT,GTTTTT), RS1001992420 (14:20462657 C>G), RS1002294853 (14:20461497 C>A), RS1003051850 (14:20461724 A>G), RS1003648672 (14:20462921 C>T), RS1004024380 (14:20463228 G>A), RS1004401409 (14:20458879 C>T), RS1004438578 (14:20459123 T>G), RS1004753646 (14:20458625 C>T), RS1005236365 (14:20462597 C>T), RS1005375385 (14:20457642 G>A,C)

Disease associations

OMIM: gene MIM:609865 | 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
GCST002666_3	Interferon alpha levels in systemic lupus erythematosus	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006517	interferon alpha measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	increases expression	1
coumarin	increases phosphorylation	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Bortezomib	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Fluoxetine	increases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Zinc	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	increases expression	1
Lactic Acid	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

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

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

Cellosaurus	Name	Category	Sex
CVCL_D3VW	A549 PIP4P1 KO	Cancer cell line	Male
CVCL_F0B6	HEK293 TMEM55A/TMEM55B DKO	Transformed cell line	Female

Clinical trials (associated diseases)

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