PAEP

Summary

PAEP (progestagen associated endometrial protein, HGNC:8573) is a protein-coding gene on chromosome 9q34.3, encoding Glycodelin (P09466). Glycoprotein that regulates critical steps during fertilization and also has immunomonomodulatory effects.

This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 5047 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 43 total — 1 pathogenic
• MANE Select transcript: NM_002571

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8573
Approved symbol	PAEP
Name	progestagen associated endometrial protein
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288
Ensembl gene	ENSG00000122133
Ensembl biotype	protein_coding
OMIM	173310
Entrez	5047

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 nonsense_mediated_decay

ENST00000277508, ENST00000371766, ENST00000371768, ENST00000418284, ENST00000433563, ENST00000454923, ENST00000457014, ENST00000479141, ENST00000611414, ENST00000864357, ENST00000864358

RefSeq mRNA: 3 — MANE Select: NM_002571 NM_001018048, NM_001018049, NM_002571

CCDS: CCDS35173

Canonical transcript exons

ENST00000479141 — 7 exons

Exon	Start	End
ENSE00000984815	135562820	135562893
ENSE00000984816	135564244	135564354
ENSE00000984817	135565410	135565514
ENSE00001456058	135566553	135566955
ENSE00001901369	135561756	135561897
ENSE00002341026	135565785	135565801
ENSE00002419983	135562294	135562433

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 99.13.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.6558 / max 1112.2946, expressed in 157 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99460	3.6558	157

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	99.13	gold quality
seminal vesicle	UBERON:0000998	98.27	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.30	silver quality
placenta	UBERON:0001987	80.12	gold quality
adult organism	UBERON:0007023	77.98	gold quality
endometrium	UBERON:0001295	74.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.62	gold quality
right uterine tube	UBERON:0001302	73.39	gold quality
left uterine tube	UBERON:0001303	72.92	gold quality
skin of leg	UBERON:0001511	62.97	gold quality
fallopian tube	UBERON:0003889	62.51	gold quality
skin of abdomen	UBERON:0001416	61.98	gold quality
frontal pole	UBERON:0002795	60.77	gold quality
middle frontal gyrus	UBERON:0002702	60.73	gold quality
uterus	UBERON:0000995	59.59	gold quality
zone of skin	UBERON:0000014	59.55	gold quality
Brodmann (1909) area 10	UBERON:0013541	59.42	gold quality
paraflocculus	UBERON:0005351	58.59	gold quality
oviduct epithelium	UBERON:0004804	57.48	silver quality
vermiform appendix	UBERON:0001154	54.81	gold quality
cerebellar vermis	UBERON:0004720	53.13	gold quality
endometrium epithelium	UBERON:0004811	52.78	gold quality
hair follicle	UBERON:0002073	52.43	gold quality
adrenal tissue	UBERON:0018303	52.01	gold quality
granulocyte	CL:0000094	51.79	gold quality
caecum	UBERON:0001153	51.55	gold quality
female reproductive system	UBERON:0000474	51.11	gold quality
myometrium	UBERON:0001296	50.69	gold quality
quadriceps femoris	UBERON:0001377	50.10	gold quality
vastus lateralis	UBERON:0001379	49.68	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	218959.75
E-HCAD-24	yes	93244.73
E-MTAB-6678	yes	81885.40
E-HCAD-23	yes	66675.93
E-MTAB-10287	yes	13348.69
E-MTAB-10283	yes	10481.87
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, GATA3, KLF11, MITF, PGR, SP1

miRNA regulators (miRDB)

8 targeting PAEP, 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-3202	99.66	67.70	2737
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-4303	98.01	68.13	2304

Literature-anchored findings (GeneRIF, showing 40)

• Synthesized in the granulosa cells at late secondary follicle stage; function in the ovarian follicle (PMID:11818517)
• PP14 is a soluble regulatory protein that dampens T cell responses by its physical presence in the contact site at the time of T cell receptor triggering. (PMID:11884441)
• uterine glycodelin flushings are elevated in patients with both polyps and leiomyomas; elevated glycodelin levels in the follicular and peri-ovulatory period may impair fertilization and implantation (PMID:12351556)
• new immunoregulatory model for PP14: one of its surface molecular targets, CD45, mediates its T cell inhibitory activity, accounting for the intriguing capacity of PP14 to elevate TCR activation thresholds and thereby down-regulate T cell activation (PMID:12556471)
• Oxidants and antioxidants affect the expression of glycodelin (PMID:12654469)
• ZIF-1 is a differentially glycosylated isoform of glycodelin that potently inhibits human sperm-egg interaction. (PMID:12672671)
• PP14 as a soluble regulatory factor capable of interacting with both T and B cells in a carbohydrate-dependent manner and as a result it can affect both cellular and humoral immune responses. (PMID:12826085)
• protein is apoptotically inactive in the non-sialylated form: differential glycosylation modulates the function of the different glycodelin isoforms. (PMID:14679205)
• During first trimester, serum glycodelin and IGFBP-1 are markedly decreased in polycystic ovary syndrome(PCOS), implicating endometrial epithelial and stromal dysfunction during periimplantation and early pregnancy in early pregnancy loss. (PMID:14764802)
• binding of glycodelin-A and -F to sperm (PMID:14973265)
• There was no significant difference between natural and stimulated cycles in concentrations of PP 14 and CA-125 in uterine flushings performed in the mid-luteal phase. (PMID:15016783)
• Placental protein 14 impairs the down-regulation of GATA-3 transcriptional regulator expression that normally accompanies T cell activation, which is a prerequisite for development of T helper type 1 cells. (PMID:15494501)
• glycodelin-S in seminal plasma maintains the uncapacitated state of human spermatozoa (PMID:15883155)
• Requirement for glycodelin for endometrial epithelial differentiation. Clue for possible therapeutic strategy to modulate endometrial function by targeting glycodelin. (PMID:16123169)
• placental protein 14 promotes CD45 dimerization and clustering, a phenomenon that may regulate CD45 activity (PMID:16269626)
• Glycodelin transfection reduces proliferation of endometrial adenocarcinoma cells, induces morphologic changes, and reduces expression of carcinoma- and chemoresistance-associated genes, such as MUC1 and Bcl-XL. (PMID:16325596)
• Patients with normal gonadotropin responses who were undergoing IVF demonstrated increased VEGF production to glycodelin, whereas poor responders had a decreased response to glycodelin. (PMID:16647384)
• Down-regulation of PRB in the endometrium is concomitant with the presence of glycodelin in the endometrium, suggesting interaction. (PMID:16759928)
• Peri-implantation levels of glycodelin are lower in women with a history of recurrent miscarriage. (PMID:17049713)
• Glycodelin positively regulates cell motility acting as mediator of histone deacetylase inhibitor-enhanced endometrial cell migration, suggesting involvement of glycodelin in dynamic endometrial gland morphogenesis during menstrual cycle. (PMID:17068141)
• Glycodelin was demonstrated in normal endometrium at the protein and mRNA levels. (PMID:17070198)
• Glycodelin may act as an autocrine factor within endometriotic implants to increase VEGF expression during oxidative stress. (PMID:17132480)
• FUT5 is a receptor of glycodelin-A and zona pellucida proteins, and glycodelin-A inhibits spermatozoa-zona binding by blocking the binding of sperm FUT5 to the zona pellucida (PMID:17148576)
• Gd and cyclooxygenase-2 might play important roles in promoting neovascularization and cell proliferation in the establishment of endometriosis (PMID:17156191)
• glycodelin oligosaccharides vary significantly from one reproductive tissue to another and have an effect on its own secretion and role in cell communication (PMID:17329396)
• Variability of seminal plasma glycodelin (Gd) adherence to spermatozoa suggests differences in sperm membrane properties according to the quality of the sperm; there is reduced Gd binding to normal-shaped male gametes compared with abnormal spermatozoa. (PMID:17482165)
• Prescence of glycodelin in peripheral white blood cells was demonstrated. (PMID:17570010)
• determination of Glycodelin A is not sensitive or specific enough for use as a tumour marker. (PMID:17649816)
• Removal of sialic acid residues from the active populations of GdA abrogates the activity of the molecule, suggesting that the extent of sialylation might be a factor regulating the activity of GdA. (PMID:17716661)
• glycodelin is a key regulatory protein of implantation and suggests that suberoylanilide hydroxamic acid may have a capacity to supplant steroid derivatives in the treatment of infertility. (PMID:17720699)
• Glycodelin A initiates mitochondrial stress-mediated apoptosis in T cells by a pathway that is distinct and independent from the TCR signaling pathway. (PMID:18155767)
• Recombinant GdA, like natural GdA is glycosylated and secreted, and they both induced apototic changes in monocytic U937 cells and primary human monocytes. (PMID:18203874)
• Glycodelin expression was significantly decreased compared with normal gestation. In mole pregnancy, an upregulation of Gd in the first 8 weeks of pregnancy was present. (PMID:18256018)
• Glycodelin may be one of the molecules that contributes to the loss of cellular homeostasis in endometriotic lesions. (PMID:18402941)
• Glycodelin-induced differentiation was associated with reduced expression of oncogenes and increased expression of tumor suppressor genes. Our results suggest that glycodelin acts as a tumor suppressor in breast cancer (PMID:18720404)
• GdA is secreted in high quantities from human endometrium during implantation and thereby helps to shape the unique immunological interaction between mother and fetus via decidual dendritic cells. (PMID:19032611)
• Immunohistochemistry detected inhibin-alpha, -betaA and -betaB, Ki67, p53 and glycodelin A in invasive trophoblastic mole. (PMID:19195690)
• Gd might be an additional marker for the differentiation of breast cancer tissue (PMID:19224449)
• Glycodelin-A inhibits the invasion of extravillous cytotrophoblasts mainly by suppressing the activity of MMP2 and MMP9 in a glycosylation-dependent fashion. (PMID:19520712)
• impairs in vitro dendritic cell maturation (PMID:19609241)

Cross-species orthologs

0 orthologs

Paralogs (12): PTGDS (ENSG00000107317), OBP2A (ENSG00000122136), LCN2 (ENSG00000148346), LCN9 (ENSG00000148386), LCN1 (ENSG00000160349), OBP2B (ENSG00000171102), LCN15 (ENSG00000177984), LCN12 (ENSG00000184925), LCN10 (ENSG00000187922), LCN8 (ENSG00000204001), LCNL1 (ENSG00000214402), LCN6 (ENSG00000267206)

Protein

Protein identifiers

Glycodelin — P09466 (reviewed: P09466)

Alternative names: Placental protein 14, Pregnancy-associated endometrial alpha-2 globulin, Progestagen-associated endometrial protein, Progesterone-associated endometrial protein, Zona-binding inhibitory factor-1

All UniProt accessions (7): A6XNE0, F2Z349, H0Y4U4, H0Y530, H0Y6A4, P09466, Q5T6T6

UniProt curated annotations — full annotation on UniProt →

Function. Glycoprotein that regulates critical steps during fertilization and also has immunomonomodulatory effects. Four glycoforms, namely glycodelin-S, -A, -F and -C have been identified in reproductive tissues that differ in glycosylation and biological activity. Glycodelin-A has contraceptive and immunosuppressive activities. Glycodelin-C stimulates binding of spermatozoa to the zona pellucida. Glycodelin-F inhibits spermatozoa-zona pellucida binding and significantly suppresses progesterone-induced acrosome reaction of spermatozoa. Glycodelin-S in seminal plasma maintains the uncapacitated state of human spermatozoa.

Subunit / interactions. Homodimer.

Subcellular location. Secreted.

Tissue specificity. This protein is, the main protein synthesized and secreted in the endometrium from mid-luteal phase of the menstrual cycle and during the first semester of pregnancy. Glycodelin-A is expressed in amniotic fluid, endometrium/decidua and maternal serum (at protein level). Glycodelin-F is expressed in follicular fluid, luteinized granulosa cells and the oviduct (at protein level). Glycodelin-S is expressed in seminal plasma and seminal vesicles (at protein level). Glycodelin-C is detected in cumulus cells (at protein level), but cumulus cells do not synthesize Glycodelin-C but take up and convert glycodelin-A and -F vis glycan remodeling.

Post-translational modifications. Four distinct glycoforms A, C, F and S arise from different N-linked oligosaccharide chains at amino acid residues Asn-46 and Asn-81. Glycodelin-A and -F are taken up by the cumulus cells in which partial deglycosylation takes place to produce glycodelin-C.

Similarity. Belongs to the calycin superfamily. Lipocalin family.

Isoforms (3)

UniProt ID	Names	Canonical?
P09466-1	1	yes
P09466-2	2
P09466-3	3

RefSeq proteins (3): NP_001018058, NP_001018059, NP_002562* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000566	Lipocln_cytosolic_FA-bd_dom	Domain
IPR002345	Lipocalin	Family
IPR002447	Blactoglobulin	Family
IPR012674	Calycin	Homologous_superfamily
IPR022272	Lipocalin_CS	Conserved_site

Pfam: PF00061

UniProt features (29 total): strand 11, sequence conflict 4, helix 3, glycosylation site 2, disulfide bond 2, splice variant 2, sequence variant 2, signal peptide 1, chain 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4R0B	X-RAY DIFFRACTION	2.45

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P09466-F1	87.18	0.68

Functional residue map

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

Disulfide bonds (2): 84–178, 124–137

Glycosylation sites (2): 46, 81

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 244 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_SINGLE_FERTILIZATION, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_REGULATION_OF_CELL_MATURATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GAANYNYGACNY_UNKNOWN, TGCACTT_MIR519C_MIR519B_MIR519A, MODULE_418, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_MALE_GAMETE_GENERATION

GO Biological Process (4): apoptotic process (GO:0006915), positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725), negative regulation of sperm capacitation (GO:1902491), regulation of binding of sperm to zona pellucida (GO:2000359)

GO Molecular Function (2): small molecule binding (GO:0036094), protein binding (GO:0005515)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
positive regulation of cytokine production	1
granulocyte macrophage colony-stimulating factor production	1
regulation of granulocyte macrophage colony-stimulating factor production	1
positive regulation of protein metabolic process	1
sperm capacitation	1
negative regulation of multicellular organismal process	1
regulation of sperm capacitation	1
negative regulation of cell maturation	1
negative regulation of reproductive process	1
binding of sperm to zona pellucida	1
regulation of cellular process	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1346 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PAEP	GDF5	P43026	906
PAEP	GDF7	Q7Z4P5	875
PAEP	BMPR1B	P78366	872
PAEP	AMBP	P00977	860
PAEP	GDF6	Q6KF10	842
PAEP	LCN1	P31025	839
PAEP	GDF2	Q9UK05	787
PAEP	BMPR2	Q13873	730
PAEP	C8G	P07360	719
PAEP	PTGDS	P41222	712
PAEP	NOG	Q13253	710
PAEP	ORM1	P02763	687
PAEP	ACVR2B	Q13705	662
PAEP	IHH	Q14623	649
PAEP	ACVR2A	P27037	640

IntAct

56 interactions, top by confidence:

A	B	Type	Score
PAEP	GRAMD2B	psi-mi:“MI:0915”(physical association)	0.830
GRAMD2B	PAEP	psi-mi:“MI:0915”(physical association)	0.830
PAEP	GPX8	psi-mi:“MI:0915”(physical association)	0.560
PAEP	GPR42	psi-mi:“MI:0915”(physical association)	0.560
PAEP	PCDHGA4	psi-mi:“MI:0915”(physical association)	0.560
PAEP	IFNLR1	psi-mi:“MI:0915”(physical association)	0.560
PAEP	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
PAEP	GORAB	psi-mi:“MI:0915”(physical association)	0.560
PAEP	AQP6	psi-mi:“MI:0915”(physical association)	0.560
PAEP	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
PAEP	TMX2	psi-mi:“MI:0915”(physical association)	0.560
AQP9	PAEP	psi-mi:“MI:0915”(physical association)	0.560
GPR42	PAEP	psi-mi:“MI:0915”(physical association)	0.560
PAEP	ARL13B	psi-mi:“MI:0915”(physical association)	0.560
PAEP	PROS1	psi-mi:“MI:0914”(association)	0.530
PAEP	ESYT2	psi-mi:“MI:0914”(association)	0.350
SMAD3	PAEP	psi-mi:“MI:0914”(association)	0.350
PAEP	RTCA	psi-mi:“MI:0914”(association)	0.350
DHH	MANBA	psi-mi:“MI:0914”(association)	0.350
PAEP	EIF3H	psi-mi:“MI:0914”(association)	0.350

BioGRID (74): GRAMD3 (Two-hybrid), PAEP (Affinity Capture-MS), DDOST (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), UBL4A (Affinity Capture-MS), SLC25A12 (Affinity Capture-MS), DNAJB5 (Affinity Capture-MS), ESYT2 (Affinity Capture-MS), ZFP91 (Affinity Capture-MS), PAEP (Two-hybrid), PAEP (Two-hybrid), COPS6 (Two-hybrid), IGSF21 (Two-hybrid), LRIF1 (Two-hybrid), PAEP (Two-hybrid)

ESM2 similar proteins: A2AEP0, A2BIM8, B5X0G2, F0UZ12, H2B3G5, O18874, P02761, P02762, P02763, P04119, P04938, P04939, P06911, P07435, P08937, P09465, P09466, P11588, P11589, P11590, P11591, P13613, P19652, P20289, P21760, P25227, P41244, P81245, P81608, P83508, Q01584, Q28133, Q28388, Q29147, Q3SZR3, Q5FW60, Q5VFH6, Q5VSP4, Q62471, Q62472

Diamond homologs: A2BIM8, B5X0G2, C0HJA9, H2B3G5, P02761, P02762, P04938, P04939, P09466, P11588, P11589, P11590, P11591, P81608, Q28388, Q29147, Q5FW60, Q5VFH6, Q8WX39, Q95182, Q9D267, P02754, P02755, P02756, P02758, P04119, P07380, P11944, P13613, P19647, P21664, P33685, P33686, P33687, P33688, P67975, P67976, Q29146, Q29614, P20289

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	27
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
666598	NM_002571.4(PAEP):c.311-444_*248del	Pathogenic

SpliceAI

862 predictions. Top by Δscore:

Variant	Effect	Δscore
9:135562817:CAG:C	acceptor_loss	1.0000
9:135562818:A:AG	acceptor_gain	1.0000
9:135562818:AG:A	acceptor_gain	1.0000
9:135562818:AGG:A	acceptor_gain	1.0000
9:135562819:G:GG	acceptor_gain	1.0000
9:135562819:GG:G	acceptor_gain	1.0000
9:135562819:GGG:G	acceptor_gain	1.0000
9:135562819:GGGA:G	acceptor_gain	1.0000
9:135562891:ACT:A	donor_gain	1.0000
9:135562892:CT:C	donor_gain	1.0000
9:135562892:CTGT:C	donor_loss	1.0000
9:135562893:TG:T	donor_loss	1.0000
9:135562894:G:GG	donor_gain	1.0000
9:135562894:GTGA:G	donor_loss	1.0000
9:135564343:GCC:G	donor_gain	1.0000
9:135562811:A:AG	acceptor_gain	0.9900
9:135562812:C:G	acceptor_gain	0.9900
9:135562817:CAGGG:C	acceptor_gain	0.9900
9:135562818:AGGGA:A	acceptor_gain	0.9900
9:135562819:GGGAG:G	acceptor_gain	0.9900
9:135562877:G:GT	donor_gain	0.9900
9:135562889:CAACT:C	donor_gain	0.9900
9:135562890:AACT:A	donor_gain	0.9900
9:135562895:TGAG:T	donor_loss	0.9900
9:135562896:GAGT:G	donor_loss	0.9900
9:135564242:A:AG	acceptor_gain	0.9900
9:135564243:G:GG	acceptor_gain	0.9900
9:135561880:G:GT	donor_gain	0.9800
9:135561893:CAAAG:C	donor_loss	0.9800
9:135561894:AAAG:A	donor_loss	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000254890 (9:135564248 G>A,C,T), RS1000438914 (9:135563733 T>TA), RS1000489982 (9:135564000 C>A,G,T), RS1001227146 (9:135562713 G>T), RS1001693272 (9:135562643 G>A), RS1001910812 (9:135564221 T>C), RS1002025652 (9:135564053 T>C), RS1002097740 (9:135564514 G>T), RS1002506723 (9:135563537 G>A), RS1002718377 (9:135565569 C>A,T), RS1002746488 (9:135561678 G>A), RS1002808662 (9:135567111 G>A), RS1003527634 (9:135560945 A>G), RS1003907129 (9:135561498 C>A), RS1003935598 (9:135566810 G>A)

Disease associations

OMIM: gene MIM:173310 | disease phenotypes: MIM:610253

GenCC curated gene-disease

Mondo (1): Kleefstra syndrome 1 (MONDO:0027407)

Orphanet (1): Kleefstra syndrome (Orphanet:261494)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563043	Kleefstra Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, decreases expression, increases expression, increases metabolic processing, increases secretion	5
Progesterone	affects cotreatment, decreases expression, increases expression, increases abundance, increases metabolic processing	4
Cyclosporine	increases expression	2
propionaldehyde	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
1-anilino-8-naphthalenesulfonate	affects binding	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Azacitidine	decreases expression	1
Azathioprine	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Calcitriol	increases expression, affects cotreatment	1
Carmustine	decreases expression	1
Diazinon	increases methylation	1
Bucladesine	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Estrogens	increases abundance	1
Hydrocortisone	increases metabolic processing	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	increases expression	1
Silicon Dioxide	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Tetrachlorodibenzodioxin	increases expression, increases secretion	1
Tobacco Smoke Pollution	affects expression	1
Triclosan	increases expression	1
Valproic Acid	increases expression	1
Aflatoxin B1	increases expression	1

Clinical trials (associated diseases)

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