PDZK1IP1

Summary

PDZK1IP1 (PDZK1 interacting protein 1, HGNC:16887) is a protein-coding gene on chromosome 1p33, encoding PDZK1-interacting protein 1 (Q13113). Auxiliary protein of electrogenic Na(+)-coupled sugar symporter SLC5A2/SGLT2 and SLC5A1/SGLT1.

Located in extracellular exosome.

Source: NCBI Gene 10158 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_005764

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16887
Approved symbol	PDZK1IP1
Name	PDZK1 interacting protein 1
Location	1p33
Locus type	gene with protein product
Status	Approved
Aliases	DD96, MAP17, SPAP
Ensembl gene	ENSG00000162366
Ensembl biotype	protein_coding
OMIM	607178
Entrez	10158

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000294338, ENST00000371885, ENST00000489919, ENST00000491793, ENST00000909770, ENST00000909771, ENST00000909772, ENST00000909773, ENST00000909774

RefSeq mRNA: 1 — MANE Select: NM_005764 NM_005764

CCDS: CCDS546

Canonical transcript exons

ENST00000294338 — 4 exons

Exon	Start	End
ENSE00001064457	47189866	47190036
ENSE00001131044	47187319	47187427
ENSE00003590820	47183582	47184043
ENSE00003599856	47185002	47185097

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 99.56.

FANTOM5 (CAGE): breadth broad, TPM avg 8.3882 / max 1252.8942, expressed in 340 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12215	8.3882	340

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult mammalian kidney	UBERON:0000082	99.56	gold quality
adult organism	UBERON:0007023	99.02	gold quality
kidney epithelium	UBERON:0004819	97.64	gold quality
metanephric glomerulus	UBERON:0004736	97.62	gold quality
minor salivary gland	UBERON:0001830	97.32	gold quality
renal glomerulus	UBERON:0000074	97.27	gold quality
nephron tubule	UBERON:0001231	97.24	gold quality
palpebral conjunctiva	UBERON:0001812	97.11	gold quality
saliva-secreting gland	UBERON:0001044	96.83	gold quality
skin of abdomen	UBERON:0001416	96.79	gold quality
lower esophagus mucosa	UBERON:0035834	96.78	gold quality
esophagus mucosa	UBERON:0002469	96.65	gold quality
gall bladder	UBERON:0002110	96.60	gold quality
skin of leg	UBERON:0001511	96.51	gold quality
mouth mucosa	UBERON:0003729	96.50	gold quality
gingiva	UBERON:0001828	95.87	gold quality
body of pancreas	UBERON:0001150	95.78	gold quality
gingival epithelium	UBERON:0001949	95.46	gold quality
penis	UBERON:0000989	95.28	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	95.24	gold quality
zone of skin	UBERON:0000014	95.16	gold quality
kidney	UBERON:0002113	94.98	gold quality
cortex of kidney	UBERON:0001225	94.93	gold quality
esophagus squamous epithelium	UBERON:0006920	94.35	gold quality
mammalian vulva	UBERON:0000997	94.31	gold quality
metanephros cortex	UBERON:0010533	94.26	gold quality
epithelium of esophagus	UBERON:0001976	93.90	gold quality
blood	UBERON:0000178	93.70	gold quality
squamous epithelium	UBERON:0006914	93.48	gold quality
monocyte	CL:0000576	93.39	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-CURD-7	yes	1274.12
E-ENAD-21	yes	1222.15
E-CURD-11	yes	1186.11
E-MTAB-10855	yes	805.74
E-HCAD-1	yes	681.33
E-HCAD-38	yes	616.39
E-GEOD-114530	yes	497.32
E-CURD-114	yes	243.84
E-MTAB-8410	yes	47.19
E-MTAB-5061	yes	26.28
E-MTAB-6701	yes	22.97
E-GEOD-83139	yes	12.50
E-MTAB-9221	yes	12.14
E-HCAD-9	yes	10.62
E-ENAD-27	yes	6.17

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TAL1

miRNA regulators (miRDB)

33 targeting PDZK1IP1, 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-513A-5P	100.00	69.77	2465
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-1271-3P	97.56	64.85	865
HSA-MIR-550A-3-5P	97.56	65.35	823
HSA-MIR-550A-5P	97.56	65.35	823
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-6895-5P	97.05	64.96	522
HSA-MIR-4690-3P	97.02	64.72	981
HSA-MIR-5685	97.02	64.34	1004
HSA-MIR-6508-3P	96.73	65.48	576
HSA-MIR-7160-3P	96.40	64.15	462

Literature-anchored findings (GeneRIF, showing 26)

• Large scale genetic screening identifies MAP17 as protein bypassing TNF-alpha-induced growth arrest. (PMID:17230460)
• Independent activation of MAP17 promoter can be driven by oncogenes and might explain the common overexpression of MAP17 in human carcinomas. (PMID:17426052)
• Tumorigenic capability of MAP17 through a connection between sodium-coupled co-transporters and reactive oxygen species. (PMID:17548903)
• MAP17 protein activates AKT through ROS and this is determinant to confer resistance to Myc-induced apoptosis in the absence of serum. (PMID:17675338)
• point mutation observed by transcriptome sequencing of malignant pleural mesothelioma tumors (PMID:18303113)
• The Th cell cytokine-induced up-regulation of MAP17 expression may be linked to the down-regulation of filaggrin in normal epidermal keratinocytes, which may be associated with abnormal epidermal differentiation observed in the dermatological diseases. (PMID:19601982)
• MAP17 is overexpressed in late-stage breast tumors, in which oncogenic activity relies on p38 insensitivity to induce intracellular ROS. (PMID:22266858)
• Results suggest that the use of MAP17 and SGLT1 markers may identify patients who are likely to exhibit a better response to treatments that boost oxidative stress in other cancer types. (PMID:23418532)
• In this study we found that the levels of MAP17 were related to clinical findings and survival in a cohort of 58 patients with larynx cancer (PMID:25788275)
• Data show that bortezomib induces a prosurvival response through cytoprotective autophagy and nuclear factor kappa B (NFkappaB) nuclear translocation, which is repressed by high levels of membrane-associated protein 17 (MAP17). (PMID:25837675)
• Differential gene expression analysis demonstrated significant upregulation of PDZK1IP1, EEF1A2 and RPL41 (ENSG00000279483) genes in the intrahepatic cholangiocarcinoma samples when compared with the matched paratumor samples. (PMID:27082702)
• We found that the levels of MAP17 were related to clinical features and poor survival in a cohort of 69 patients with different sarcoma types and suggest that MAP17 is a new biomarker to predict the efficacy of bortezomib as a new therapy for sarcomas. (PMID:27563810)
• MAP17 overexpression activates Notch pathway by sequestering NUMB. High levels of MAP17 correlated with tumorsphere formation and Notch and Stem gene transcription. Its direct modification causes direct alteration of tumorsphere number and Notch and Stem pathway transcription (PMID:28153862)
• SGLT2/MAP17 functions as a low-affinity Na(+)-glucose cotransporter in the kidney. (PMID:28592437)
• MAP17 is overexpressed in most carcinomas and in many tumors of mesenchymal origin, and correlates with higher grade and poorly differentiated tumors. This overexpression drives deep changes in cell homeostasis including increased oxidative stress, deregulation of signaling pathways and increased growth rates. Importantly, MAP17 is associated not only in cancer but in various inflammatory diseases. [review] (PMID:29650022)
• Our results indicate a potential prognostic role for MAP17 in lung tumours, with particular relevance in lung adenocarcinomas, and highlight the predictive pot0065ntial of this membrane-associated protein for platinum-based therapy and EGFR inhibitor efficacy. Furthermore, we propose bortezomib treatment as a novel and efficacious therapy for lung adenocarcinomas exhibiting high MAP17 expression. (PMID:30119639)
• Membrane-associated protein 17 (MAP17) is shown to colocalize and coimmunoprecipitate with sodium/glucose cotransporter 2 (SGLT2). (PMID:30156268)
• These findings indicate that PDZK1IP1 interacts with Smad4 and thereby suppresses the TGF-beta signaling pathway. (PMID:30718277)
• Combined expression of fascin-1 and MAP17 in breast cancer cells is associated with a significantly worse 5-year PFS, therefore recognizing a group of patients with high risk for early disease recurrence. (PMID:31273628)
• Sarcoma stratification by combined pH2AX and MAP17 (PDZK1IP1) levels for a better outcome on doxorubicin plus olaparib treatment. (PMID:32963243)
• MAP17 contributes to non-small cell lung cancer progression via suppressing miR-27a-3p expression and p38 signaling pathway. (PMID:33280497)
• Hypoxia-dependent expression of MAP17 coordinates the Warburg effect to tumor growth in hepatocellular carcinoma. (PMID:33832535)
• MAP17 Expression in Colorectal Cancer Is a Prognostic Factor for Disease Recurrence and Dismal Prognosis Already in Early Stage Disease. (PMID:33853080)
• 80MAP17 promotes the tumorigenesis of papillary thyroid carcinoma by reducing the stability of p53. (PMID:34719205)
• PDZK1 Interacting Protein 1 Promotes the Progression of Papillary Thyroid Cancer. (PMID:35727731)
• MiR-455-5p suppresses PDZK1IP1 to promote the motility of oral squamous cell carcinoma and accelerate clinical cancer invasion by regulating partial epithelial-to-mesenchymal transition. (PMID:36737832)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pdzk1ip1	ENSDARG00000017127
mus_musculus	Pdzk1ip1	ENSMUSG00000028716
rattus_norvegicus	Pdzk1ip1	ENSRNOG00000008161

Paralogs (1): SMIM24 (ENSG00000095932)

Protein

Protein identifiers

PDZK1-interacting protein 1 — Q13113 (reviewed: Q13113)

Alternative names: 17 kDa membrane-associated protein, Protein DD96

All UniProt accessions (1): Q13113

UniProt curated annotations — full annotation on UniProt →

Function. Auxiliary protein of electrogenic Na(+)-coupled sugar symporter SLC5A2/SGLT2 and SLC5A1/SGLT1. Essential for the transporter activity of SLC5A2/SGLT2 but not SLC5A1/SGLT1.

Subunit / interactions. Forms a heterodimer (via N-terminal transmembrane helix) with SLC5A2/SGLT2 (via TM13); this interaction enhances SLC5A2 transporter activity. Interacts with PDZK1.

Subcellular location. Apical cell membrane.

Similarity. Belongs to the PDZK1-interacting protein 1/SMIM24 family.

RefSeq proteins (1): NP_005755* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031627	PDZK1IP1/SMIM24	Family

Pfam: PF15807

UniProt features (10 total): topological domain 2, sequence conflict 2, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1, modified residue 1, helix 1

Structure

Experimental structures (PDB)

14 structures.

PDB	Method	Resolution (Å)
9KMN	ELECTRON MICROSCOPY	2.47
9KKQ	ELECTRON MICROSCOPY	2.6
8HEZ	ELECTRON MICROSCOPY	2.8
8HB0	ELECTRON MICROSCOPY	2.9
9KKW	ELECTRON MICROSCOPY	2.92
7VSI	ELECTRON MICROSCOPY	2.95
8HDH	ELECTRON MICROSCOPY	3.1
8HG7	ELECTRON MICROSCOPY	3.1
9KL0	ELECTRON MICROSCOPY	3.16
7WMV	ELECTRON MICROSCOPY	3.2
7YNI	ELECTRON MICROSCOPY	3.26
8HIN	ELECTRON MICROSCOPY	3.3
7YNJ	ELECTRON MICROSCOPY	3.33
7YNK	ELECTRON MICROSCOPY	3.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13113-F1	65.03	0.11

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 (1): 85

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 187 (showing top): GOBP_CARBOHYDRATE_TRANSPORT, JAEGER_METASTASIS_DN, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_2NM_UP, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, FOSTER_TOLERANT_MACROPHAGE_UP, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, LIAO_METASTASIS, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, MARSON_FOXP3_TARGETS_UP, MODULE_88, GOCC_APICAL_PLASMA_MEMBRANE, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): apical plasma membrane (GO:0016324), extracellular exosome (GO:0070062), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
apical part of cell	1
plasma membrane region	1
extracellular vesicle	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

628 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PDZK1IP1	PDZK1	Q5T2W1	919
PDZK1IP1	DMBT1	Q9UGM3	752
PDZK1IP1	SLC26A6	Q9BXS9	609
PDZK1IP1	IER5	Q5VY09	589
PDZK1IP1	MPDZ	O75970	585
PDZK1IP1	NUMB	P49757	572
PDZK1IP1	NUMBL	Q9Y6R0	566
PDZK1IP1	SLC9A3	P48764	560
PDZK1IP1	TAL1	P17542	530
PDZK1IP1	ABCC2	Q92887	520
PDZK1IP1	TWIST1	Q15672	516
PDZK1IP1	FN1	P02751	497
PDZK1IP1	SLC5A12	Q1EHB4	483
PDZK1IP1	ZNF566	Q969W8	477
PDZK1IP1	KPNA2	P52292	471

IntAct

298 interactions, top by confidence:

A	B	Type	Score
AGR3	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
PEX16	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
TMEM14C	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
STRIT1	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
SLC35B4	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
MYADML2	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	GIMAP5	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	AQP6	psi-mi:“MI:0915”(physical association)	0.560
CYB5B	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
GYPA	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
CD81	PDZK1IP1	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	NRAC	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	AGR3	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	PGAP2	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	VAMP3	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	AIG1	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	TMEM39B	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	PEX16	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	GRM2	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	TMEM14A	psi-mi:“MI:0915”(physical association)	0.560
PDZK1IP1	ERG28	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (83): PDZK1IP1 (Two-hybrid), PDZK1IP1 (Two-hybrid), PDZK1IP1 (Reconstituted Complex), PDZK1IP1 (Reconstituted Complex), PDZK1IP1 (Affinity Capture-MS), PDZK1IP1 (Affinity Capture-Western), PDZK1 (Two-hybrid), PDZK1 (Two-hybrid), PDZK1IP1 (Two-hybrid), PDZK1IP1 (Two-hybrid), PDZK1IP1 (Two-hybrid), PDZK1IP1 (Two-hybrid), COPS6 (Two-hybrid), UTP14A (Two-hybrid), PDZK1IP1 (Two-hybrid)

ESM2 similar proteins: A0A1B0GRQ0, A0A1B0GSZ0, A0A1B0GVQ0, A0A1B0GVT2, A0JNM1, A0PK05, A2VE22, A5D7B5, F1M2Z5, O75324, P0DKX4, P29414, P61807, P61808, Q0VBF2, Q0VCT2, Q0VFL4, Q13113, Q15053, Q16655, Q17Q87, Q2KIK3, Q3MHM8, Q498C7, Q58CU5, Q5RA41, Q5RCS3, Q5RF07, Q64448, Q6ITQ4, Q6UWT2, Q78HU7, Q7TMJ8, Q80WK2, Q80ZU4, Q86UW2, Q8BGN6, Q8BJN4, Q8C3K5, Q8K1D8

Diamond homologs: Q13113, Q2KIP5, Q5RA41, Q6ITQ4, Q6XQ84, Q923S2, Q9CQH0, O75264, Q0VG18

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

633 predictions. Top by Δscore:

Variant	Effect	Δscore
1:47184998:TCAC:T	donor_loss	1.0000
1:47185000:A:AG	donor_loss	1.0000
1:47185001:C:CG	donor_loss	1.0000
1:47185094:CTCC:C	acceptor_gain	1.0000
1:47185095:TCC:T	acceptor_gain	1.0000
1:47185096:CC:C	acceptor_gain	1.0000
1:47185096:CCC:C	acceptor_gain	1.0000
1:47185097:CC:C	acceptor_gain	1.0000
1:47185098:C:CC	acceptor_gain	1.0000
1:47185098:CTG:C	acceptor_loss	1.0000
1:47187318:CGG:C	donor_gain	1.0000
1:47184041:GACC:G	acceptor_loss	0.9900
1:47184042:ACCT:A	acceptor_loss	0.9900
1:47184043:CCTGA:C	acceptor_loss	0.9900
1:47184044:C:CC	acceptor_gain	0.9900
1:47184044:CTG:C	acceptor_loss	0.9900
1:47185098:C:T	acceptor_gain	0.9900
1:47187317:A:AC	donor_gain	0.9900
1:47187318:C:CC	donor_gain	0.9900
1:47189855:T:TA	donor_gain	0.9900
1:47189863:TACC:T	donor_loss	0.9900
1:47189864:ACC:A	donor_loss	0.9900
1:47189865:C:CA	donor_loss	0.9900
1:47189865:CCTTG:C	donor_gain	0.9900
1:47189949:AG:A	donor_gain	0.9900
1:47185031:T:A	donor_gain	0.9800
1:47187318:CGGCT:C	donor_gain	0.9800
1:47184039:TGGAC:T	acceptor_gain	0.9700
1:47185093:GCTCC:G	acceptor_gain	0.9700
1:47185094:CTCCC:C	acceptor_gain	0.9700

AlphaMissense

742 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:47187388:G:T	A36E	0.975
1:47187375:G:C	F40L	0.974
1:47187375:G:T	F40L	0.974
1:47187377:A:G	F40L	0.974
1:47187367:A:T	L43H	0.965
1:47187367:A:C	L43R	0.956
1:47187407:A:G	W30R	0.956
1:47187407:A:T	W30R	0.956
1:47187376:A:G	F40S	0.955
1:47187398:C:G	G33R	0.954
1:47187405:C:A	W30C	0.952
1:47187405:C:G	W30C	0.952
1:47187361:G:T	A45E	0.951
1:47187373:A:C	L41R	0.950
1:47187379:A:T	V39E	0.950
1:47187364:A:T	V44D	0.946
1:47187351:A:C	F48L	0.924
1:47187351:A:T	F48L	0.924
1:47187353:A:G	F48L	0.924
1:47187373:A:T	L41Q	0.921
1:47187362:C:G	A45P	0.917
1:47187373:A:G	L41P	0.916
1:47187397:C:T	G33D	0.911
1:47187346:A:T	V50D	0.910
1:47187358:A:T	I46N	0.910
1:47184013:A:C	N101K	0.906
1:47184013:A:T	N101K	0.906
1:47187382:G:T	A38D	0.905
1:47187376:A:C	F40C	0.903
1:47187391:A:T	I35N	0.903

dbSNP variants (sampled 300 via entrez): RS1000911876 (1:47186726 G>A), RS1001100494 (1:47188730 G>A), RS1001391046 (1:47186374 C>T), RS1001863367 (1:47191996 G>A,T), RS1001915906 (1:47191582 C>T), RS1002209079 (1:47186140 TC>T), RS1002578627 (1:47189183 C>T), RS1002923180 (1:47184018 C>A,T), RS1003699640 (1:47188785 C>T), RS1004270407 (1:47190668 C>T), RS1005055598 (1:47186257 G>A), RS1005127622 (1:47186123 A>G), RS1005384336 (1:47191928 C>T), RS1005718462 (1:47189083 G>C), RS1005747671 (1:47183834 G>A,C,T)

Disease associations

OMIM: gene MIM:607178 | 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
GCST002595_12	Clozapine-induced agranulocytosis	2.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance, increases expression	3
bisphenol A	affects cotreatment, decreases methylation, decreases expression, increases methylation	2
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	decreases expression, affects methylation	2
Calcitriol	increases expression, affects cotreatment	2
Smoke	increases expression, decreases expression, increases abundance	2
Testosterone	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
Tobacco Smoke Pollution	affects expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
lead acetate	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
sulforaphane	decreases expression	1
perfluorooctanoic acid	increases expression	1
cupric chloride	decreases expression	1
polyhexamethyleneguanidine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	increases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Troglitazone	decreases expression	1
Acetaminophen	decreases expression	1
Gemcitabine	increases expression	1

Clinical trials (associated diseases)

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