PLEKHA8

Summary

PLEKHA8 (pleckstrin homology domain containing A8, HGNC:30037) is a protein-coding gene on chromosome 7p14.3, encoding Pleckstrin homology domain-containing family A member 8 (Q96JA3). Cargo transport protein that is required for apical transport from the Golgi complex.

Enables several functions, including ceramide binding activity; glycolipid transfer activity; and phosphatidylinositol-4-phosphate binding activity. Involved in ER to Golgi ceramide transport. Located in nucleoplasm and trans-Golgi network.

Source: NCBI Gene 84725 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_001197026

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30037
Approved symbol	PLEKHA8
Name	pleckstrin homology domain containing A8
Location	7p14.3
Locus type	gene with protein product
Status	Approved
Aliases	FAPP2, MGC3358
Ensembl gene	ENSG00000106086
Ensembl biotype	protein_coding
OMIM	608639
Entrez	84725

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000258679, ENST00000396257, ENST00000396259, ENST00000440706, ENST00000449726, ENST00000483799, ENST00000498106, ENST00000622102, ENST00000649443, ENST00000707142, ENST00000934640, ENST00000972039

RefSeq mRNA: 8 — MANE Select: NM_001197026 NM_001197026, NM_001197027, NM_001350973, NM_001350974, NM_001350975, NM_001363473, NM_001363474, NM_032639

CCDS: CCDS5424, CCDS56473, CCDS75574, CCDS87489, CCDS87490

Canonical transcript exons

ENST00000449726 — 14 exons

Exon	Start	End
ENSE00001650637	30078590	30084650
ENSE00003238318	30050434	30050474
ENSE00003239104	30052709	30052866
ENSE00003248136	30054709	30054865
ENSE00003252744	30061897	30062027
ENSE00003272373	30060884	30060942
ENSE00003277841	30062672	30062742
ENSE00003364477	30055257	30055342
ENSE00003411227	30049224	30049382
ENSE00003458906	30047832	30047956
ENSE00003556617	30045085	30045201
ENSE00003676413	30046210	30046365
ENSE00003838291	30074071	30074132
ENSE00003844104	30028412	30028802

Expression profiles

Bgee: expression breadth ubiquitous, 232 present calls, max score 86.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6305 / max 117.1167, expressed in 1718 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
77940	7.0146	1695
77941	0.6159	373

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	86.26	gold quality
placenta	UBERON:0001987	85.64	gold quality
embryo	UBERON:0000922	84.88	gold quality
ganglionic eminence	UBERON:0004023	84.88	gold quality
cortical plate	UBERON:0005343	83.82	gold quality
ileal mucosa	UBERON:0000331	83.07	gold quality
bone marrow cell	CL:0002092	82.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.02	gold quality
visceral pleura	UBERON:0002401	82.00	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.47	gold quality
colonic epithelium	UBERON:0000397	80.18	gold quality
pancreatic ductal cell	CL:0002079	78.96	silver quality
parietal pleura	UBERON:0002400	78.90	gold quality
stromal cell of endometrium	CL:0002255	78.89	gold quality
tibia	UBERON:0000979	78.63	gold quality
Brodmann (1909) area 23	UBERON:0013554	78.11	gold quality
pigmented layer of retina	UBERON:0001782	77.70	gold quality
retina	UBERON:0000966	77.69	gold quality
islet of Langerhans	UBERON:0000006	77.65	gold quality
primary visual cortex	UBERON:0002436	77.41	gold quality
tonsil	UBERON:0002372	76.94	gold quality
germinal epithelium of ovary	UBERON:0001304	76.87	gold quality
corpus epididymis	UBERON:0004359	76.78	gold quality
postcentral gyrus	UBERON:0002581	76.73	gold quality
gingival epithelium	UBERON:0001949	76.55	gold quality
tibialis anterior	UBERON:0001385	76.38	silver quality
calcaneal tendon	UBERON:0003701	76.38	gold quality
middle temporal gyrus	UBERON:0002771	76.35	gold quality
monocyte	CL:0000576	75.54	gold quality
leukocyte	CL:0000738	75.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.93

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting PLEKHA8, 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-3658	99.96	73.87	4379
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-4720-3P	98.50	68.88	988
HSA-MIR-581	98.39	67.42	835
HSA-MIR-337-3P	97.90	69.37	1052
HSA-MIR-510-5P	97.66	65.82	916
HSA-MIR-4693-5P	97.35	67.02	1234
HSA-MIR-3616-3P	96.96	65.45	983
HSA-MIR-4790-3P	96.63	67.08	806
HSA-MIR-8081	96.42	67.75	738
HSA-MIR-31-3P	95.17	69.82	575
HSA-MIR-3927-5P	94.90	68.11	399

Literature-anchored findings (GeneRIF, showing 14)

• Data show that FAPP1 and 2 are essential components of a phosphatidylinositol 4-phosphate- and ADP-ribosylation factor-regulated machinery that controls generation of constitutive post-Golgi carriers. (PMID:15107860)
• FAPP2 plays a specific role in apical transport in MDCK cells. (PMID:16103222)
• Data demonstrate FAPP2 is required for cilium formation in polarized MDCK cells. (PMID:17116893)
• by coupling the synthesis of glycosphingolipids with their export to the cell surface, FAPP2 emerges as crucial in determining the lipid identity and composition of the plasma membrane (PMID:17687330)
• These data demonstrate a previously unknown role for FAPP2 in conferring resistance to apoptosis and indicate that FAPP2 may be a target for cancer therapy. (PMID:19341712)
• Data show that FAPP2 is present in tubules forming from the trans-Golgi in epithelial MDCK cells. (PMID:19940249)
• FAPP2 functions in both membrane trafficking and lipid metabolism in a fashion that integrates its activities in membrane trafficking and in lipid transfer. (Review) (PMID:22266015)
• Altogether, this study implies that hepatitis C virus coopts FAPP2 for virus genome replication via phosphatidylinositol 4-phosphate binding and glycosphingolipid transport to the hepatitis C virus replication complex. (PMID:25122779)
• Four bulky, conserved hydrophobic residues involved in “sensor-like” interactions with lipid chains in protein hydrophobic pockets and FF motifs in GLTP and FAPP2. (PMID:30206120)
• FAPP2 could act as an oncogene in the regulation of tumor growth and may provide a new therapeutic target for human colon cancer. (PMID:30408464)
• miR-98 is involved in missed abortion by targeting GDF6 and FAPP2. (PMID:32045359)
• Phosphatidylinositol 4-phosphate adaptor protein 2 accelerates the proliferation and invasion of hepatocellular carcinoma cells by enhancing Wnt/beta-catenin signaling. (PMID:32914361)
• FAPP2 Accelerates the Proliferation and Invasion of Hepatocellular Carcinoma Cells via Wnt/beta-Catenin Signaling. (PMID:33389903)
• Downregulation of FAPP2 gene induces cell autophagy and inhibits PI3K/AKT/mTOR pathway in T-cell acute lymphoblastic leukemia. (PMID:34796518)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	plekha8	ENSDARG00000040698
mus_musculus	Plekha8	ENSMUSG00000005225
rattus_norvegicus	Plekha8	ENSRNOG00000009971
drosophila_melanogaster	CG6299	FBGN0030641
caenorhabditis_elegans	tag-296	WBGENE00018632
caenorhabditis_elegans		WBGENE00022347
caenorhabditis_elegans	F49D11.10	WBGENE00045433

Paralogs (5): CERT1 (ENSG00000113163), PLEKHA3 (ENSG00000116095), GLTP (ENSG00000139433), GLTPD2 (ENSG00000182327), CPTP (ENSG00000224051)

Protein

Protein identifiers

Pleckstrin homology domain-containing family A member 8 — Q96JA3 (reviewed: Q96JA3)

Alternative names: Phosphatidylinositol-four-phosphate adapter protein 2, Serologically defined breast cancer antigen NY-BR-86

All UniProt accessions (5): Q96JA3, A0A087X1S6, A0A2P1JJM6, A0A3B3IST3, B5MDU3

UniProt curated annotations — full annotation on UniProt →

Function. Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans-Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane and plays a pivotal role in the synthesis of complex glycosphingolipids. Binding of both phosphatidylinositol 4-phosphate (PIP) and ARF1 are essential for the GlcCer transfer ability. Also required for primary cilium formation, possibly by being involved in the transport of raft lipids to the apical membrane, and for membrane tubulation.

Subunit / interactions. Homodimer. Interacts with ARF1; the interaction together with phosphatidylinositol 4-phosphate binding is required for FAPP2 GlcCer transfer ability.

Subcellular location. Golgi apparatus. trans-Golgi network membrane. Membrane.

Tissue specificity. Expressed in kidney cell lines.

Domain organisation. The PH domain of FAPPS binds the small GTPase ARF1 and phosphatidylinositol-4-phosphate (PtdIns4P) with high selectivity, and is required for recruitment of FAPPs to the trans-Golgi network (TGN).

Isoforms (3)

UniProt ID	Names	Canonical?
Q96JA3-1	1	yes
Q96JA3-2	2
Q96JA3-3	3

RefSeq proteins (8): NP_001183955, NP_001183956, NP_001337902, NP_001337903, NP_001337904, NP_001350402, NP_001350403, NP_116028 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014830	Glycolipid_transfer_prot_dom	Domain
IPR036497	GLTP_sf	Homologous_superfamily

Pfam: PF00169, PF08718

UniProt features (42 total): helix 14, sequence conflict 11, splice variant 4, turn 3, modified residue 3, mutagenesis site 2, chain 1, domain 1, sequence variant 1, region of interest 1, strand 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5KDI	X-RAY DIFFRACTION	1.45

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96JA3-F1	74.41	0.43

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 (3): 139, 145, 153

Mutagenesis-validated functional residues (2):

Position	Phenotype
18	abolishes binding to phosphatylinositol 4-phosphate, less association with golgi and no preference for tgn location.
407	loss of glucosylceramide transfer activity from the tgn to the plasma membrane.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1660499	Synthesis of PIPs at the plasma membrane
R-HSA-9845576	Glycosphingolipid transport

MSigDB gene sets: 200 (showing top): GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOMF_GTPASE_BINDING, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_LIPID_METABOLIC_PROCESS, AACTTT_UNKNOWN, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_SPHINGOLIPID_BIOSYNTHETIC_PROCESS

GO Biological Process (8): globoside biosynthetic process (GO:0001576), lipid transport (GO:0006869), protein transport (GO:0015031), ER to Golgi ceramide transport (GO:0035621), ceramide transport (GO:0035627), intermembrane lipid transfer (GO:0120009), glycolipid transport (GO:0046836), ceramide 1-phosphate transport (GO:1902389)

GO Molecular Function (10): glycolipid transfer activity (GO:0017089), small GTPase binding (GO:0031267), glycolipid binding (GO:0051861), phosphatidylinositol-4-phosphate binding (GO:0070273), ceramide binding (GO:0097001), ceramide 1-phosphate binding (GO:1902387), ceramide 1-phosphate transfer activity (GO:1902388), protein binding (GO:0005515), lipid binding (GO:0008289), lipid transfer activity (GO:0120013)

GO Cellular Component (7): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
PI Metabolism	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
lipid transport	3
transport	2
ceramide transport	2
anion binding	2
binding	2
cytoplasm	2
globoside metabolic process	1
glycosphingolipid biosynthetic process	1
lipid localization	1
intracellular protein localization	1
establishment of protein localization	1
intracellular lipid transport	1
nitrogen compound transport	1
membrane organization	1
carbohydrate derivative transport	1
phospholipid transport	1
glycolipid transport	1
glycolipid binding	1
lipid transfer activity	1
GTPase binding	1
lipid binding	1
carbohydrate derivative binding	1
phosphatidylinositol phosphate binding	1
sphingolipid binding	1
phospholipid binding	1
ceramide binding	1
phospholipid transfer activity	1
ceramide transfer activity	1
ceramide 1-phosphate transport	1
transporter activity	1
lipid carrier activity	1
intermembrane lipid transfer	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

700 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLEKHA8	CEL	P19835	891
PLEKHA8	ARF1	P10947	834
PLEKHA8	PI4KB	P78405	718
PLEKHA8	PLEK2	Q9NYT0	703
PLEKHA8	CDKN2A	P42771	699
PLEKHA8	PLEK	P08567	687
PLEKHA8	VAPA	Q9P0L0	666
PLEKHA8	UGCG	Q16739	601
PLEKHA8	B4GALT6	Q9UBX8	559
PLEKHA8	PITPNM1	O00562	518
PLEKHA8	CERK	Q8TCT0	512
PLEKHA8	B4GALT5	O43286	493
PLEKHA8	RSPRY1	Q96DX4	475
PLEKHA8	PLEKHA2	Q9HB19	475
PLEKHA8	TMTC4	Q5T4D3	464

IntAct

11 interactions, top by confidence:

A	B	Type	Score
PLEKHA8	PLEKHA8P1	psi-mi:“MI:0915”(physical association)	0.590
PLEKHA8P1	PLEKHA8	psi-mi:“MI:0915”(physical association)	0.590
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
MASTL	MED26	psi-mi:“MI:0914”(association)	0.350
FANCI	FAAP20	psi-mi:“MI:0914”(association)	0.350
CDKN2AIPNL	SEC16A	psi-mi:“MI:0914”(association)	0.350
FAN1		psi-mi:“MI:0914”(association)	0.350
OSBP	ESYT2	psi-mi:“MI:0914”(association)	0.350
PLEKHA3	SEC24D	psi-mi:“MI:0914”(association)	0.350
PLEKHA3	ACTL6B	psi-mi:“MI:0914”(association)	0.350

BioGRID (28): PLEKHA8P1 (Affinity Capture-MS), PLEKHA8 (Affinity Capture-MS), PLEKHA8 (Affinity Capture-MS), PLEKHA8 (Affinity Capture-MS), PLEKHA8 (Affinity Capture-MS), PLEKHA8 (Affinity Capture-MS), ARF1 (Reconstituted Complex), PLEKHA8P1 (Affinity Capture-MS), PLEKHA8 (Proximity Label-MS), PLEKHA8 (Proximity Label-MS), PLEKHA8 (Proximity Label-MS), PLEKHA8 (Proximity Label-MS), PLEKHA8 (Proximity Label-MS), PLEKHA8 (Proximity Label-MS), PLEKHA8 (Proximity Label-MS)

ESM2 similar proteins: A0A1B0GW35, A6QNM3, B0R034, B1ANS9, B9EK06, D2KC46, D3ZY60, F1MS15, F1P065, F1REV3, O00522, O15091, O75747, P10911, P58069, Q008S8, Q14449, Q14D04, Q15283, Q32NR9, Q45GW3, Q4R366, Q4R6T7, Q5H9U9, Q5K651, Q5PQS3, Q5XGX5, Q5XIZ9, Q5ZLD2, Q60862, Q63713, Q69Z37, Q6DCF6, Q6S5J6, Q6TNJ1, Q75PQ8, Q80W71, Q86VD1, Q86YR7, Q8C5W4

Diamond homologs: A0A223HDI2, A2BG43, B0BLT4, B0BNM9, B0YN54, D2KC46, D3ZY60, F1MS15, O95397, P68265, P68266, Q5U3N0, Q63ZQ3, Q6NU44, Q80W71, Q96JA3, Q9JL62, Q9NZD2, O22797, O14340, P16258, P22059, P35845, Q12451, Q3B7Z2, Q5M7Y0, Q5QNQ6, Q5R6M6, Q6NRZ4, Q6NTN5, Q6P3Q6, Q6VVX2, Q8C115, Q8IVE3, Q969R2, Q9EQG9, Q9ERS4, Q9GKI7, Q9HB20, Q9SAF0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2508 predictions. Top by Δscore:

Variant	Effect	Δscore
7:30028798:GAGCG:G	donor_gain	1.0000
7:30028800:GCG:G	donor_gain	1.0000
7:30045076:T:TA	acceptor_gain	1.0000
7:30045080:TTCA:T	acceptor_loss	1.0000
7:30045082:CAGGT:C	acceptor_loss	1.0000
7:30045083:A:AG	acceptor_gain	1.0000
7:30045083:AG:A	acceptor_gain	1.0000
7:30045083:AGGTT:A	acceptor_gain	1.0000
7:30045084:G:A	acceptor_loss	1.0000
7:30045084:G:GC	acceptor_gain	1.0000
7:30045084:GG:G	acceptor_gain	1.0000
7:30045084:GGT:G	acceptor_gain	1.0000
7:30045084:GGTT:G	acceptor_gain	1.0000
7:30045084:GGTTG:G	acceptor_gain	1.0000
7:30045202:G:GA	donor_loss	1.0000
7:30045202:G:GG	donor_gain	1.0000
7:30045203:T:G	donor_loss	1.0000
7:30046208:A:AG	acceptor_gain	1.0000
7:30046209:G:GG	acceptor_gain	1.0000
7:30046209:GT:G	acceptor_gain	1.0000
7:30046209:GTT:G	acceptor_gain	1.0000
7:30046209:GTTC:G	acceptor_gain	1.0000
7:30046209:GTTCA:G	acceptor_gain	1.0000
7:30047827:TTTA:T	acceptor_loss	1.0000
7:30047828:TTA:T	acceptor_loss	1.0000
7:30047829:TAGAG:T	acceptor_loss	1.0000
7:30047830:A:AG	acceptor_gain	1.0000
7:30047830:AG:A	acceptor_loss	1.0000
7:30047831:G:GA	acceptor_gain	1.0000
7:30047831:GA:G	acceptor_gain	1.0000

AlphaMissense

3430 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:30028769:G:A	G3R	1.000
7:30028769:G:C	G3R	1.000
7:30028769:G:T	G3W	1.000
7:30028783:G:C	K7N	1.000
7:30028783:G:T	K7N	1.000
7:30028784:T:A	W8R	1.000
7:30028784:T:C	W8R	1.000
7:30045087:T:A	W15R	1.000
7:30045087:T:C	W15R	1.000
7:30045103:T:C	F20S	1.000
7:30046240:T:C	L63P	1.000
7:30046270:T:C	L73P	1.000
7:30046302:T:A	W84R	1.000
7:30046302:T:C	W84R	1.000
7:30046304:G:C	W84C	1.000
7:30046304:G:T	W84C	1.000
7:30046306:T:C	L85P	1.000
7:30046315:T:C	L88P	1.000
7:30047877:T:C	L120P	1.000
7:30060914:T:A	V357D	1.000
7:30060922:G:C	D360H	1.000
7:30060923:A:C	D360A	1.000
7:30060923:A:G	D360G	1.000
7:30060923:A:T	D360V	1.000
7:30060924:T:A	D360E	1.000
7:30060924:T:G	D360E	1.000
7:30060936:T:A	N364K	1.000
7:30060936:T:G	N364K	1.000
7:30062012:T:C	L405P	1.000
7:30062017:T:A	W407R	1.000

dbSNP variants (sampled 300 via entrez): RS1000018590 (7:30111604 T>A,G), RS1000028306 (7:30111432 G>A,T), RS1000042489 (7:30080739 C>G,T), RS1000057151 (7:30128534 A>C), RS1000114083 (7:30037196 A>C), RS1000126147 (7:30087351 C>A), RS1000139013 (7:30040782 T>C), RS1000167546 (7:30063705 C>G), RS1000177739 (7:30127312 C>T), RS1000184360 (7:30104284 CT>C), RS1000213190 (7:30040555 A>G), RS1000290226 (7:30098796 C>A,T), RS1000321122 (7:30125485 G>A), RS1000380005 (7:30125132 T>C), RS1000416450 (7:30034620 G>A,C,T)

Disease associations

OMIM: gene MIM:608639 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001553_1	Estradiol levels	2.000000e-06
GCST011998_4	Glucocorticoid receptor gene expression in B-cell precursor acute lymphoblastic leukaemia	6.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004697	estradiol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, increases expression	3
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Arsenic	increases methylation	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Hydrogen Peroxide	increases expression	1
Lead	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	increases expression	1
Cadmium Chloride	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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