PLEKHF2

Summary

PLEKHF2 (pleckstrin homology and FYVE domain containing 2, HGNC:20757) is a protein-coding gene on chromosome 8q22.1, encoding Pleckstrin homology domain-containing family F member 2 (Q9H8W4). May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport.

Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in endosome organization and endosome to lysosome transport. Located in transport vesicle.

Source: NCBI Gene 79666 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_024613

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20757
Approved symbol	PLEKHF2
Name	pleckstrin homology and FYVE domain containing 2
Location	8q22.1
Locus type	gene with protein product
Status	Approved
Aliases	ZFYVE18, PHAFIN2, FLJ13187
Ensembl gene	ENSG00000175895
Ensembl biotype	protein_coding
OMIM	615208
Entrez	79666

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000315367, ENST00000519516, ENST00000700745, ENST00000700746, ENST00000700747, ENST00000700748, ENST00000700749, ENST00000908157, ENST00000945912

RefSeq mRNA: 1 — MANE Select: NM_024613 NM_024613

CCDS: CCDS6267

Canonical transcript exons

ENST00000315367 — 2 exons

Exon	Start	End
ENSE00003980720	95154031	95156685
ENSE00003980727	95133785	95134030

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 97.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.6285 / max 461.4001, expressed in 1800 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
89819	9.4530	1710
89822	6.6149	1165
89821	3.6110	1149
89820	1.8990	807
89823	1.3582	605
89818	0.6924	328

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.44	gold quality
oocyte	CL:0000023	95.14	gold quality
upper leg skin	UBERON:0004262	94.28	gold quality
palpebral conjunctiva	UBERON:0001812	94.21	gold quality
bronchial epithelial cell	CL:0002328	94.01	gold quality
skin of hip	UBERON:0001554	93.06	gold quality
monocyte	CL:0000576	92.89	gold quality
mononuclear cell	CL:0000842	92.87	gold quality
leukocyte	CL:0000738	92.73	gold quality
sperm	CL:0000019	92.51	gold quality
bone marrow	UBERON:0002371	92.31	gold quality
corpus epididymis	UBERON:0004359	91.81	gold quality
epithelium of bronchus	UBERON:0002031	91.34	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.22	gold quality
epithelium of nasopharynx	UBERON:0001951	91.16	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.14	gold quality
caput epididymis	UBERON:0004358	91.09	gold quality
colonic mucosa	UBERON:0000317	90.86	gold quality
bronchus	UBERON:0002185	90.58	gold quality
lymph node	UBERON:0000029	90.29	gold quality
islet of Langerhans	UBERON:0000006	90.05	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.03	gold quality
nasal cavity mucosa	UBERON:0001826	89.60	gold quality
trabecular bone tissue	UBERON:0002483	89.54	gold quality
vermiform appendix	UBERON:0001154	89.48	gold quality
oral cavity	UBERON:0000167	89.43	gold quality
amniotic fluid	UBERON:0000173	89.25	gold quality
male germ cell	CL:0000015	88.84	gold quality
bone marrow cell	CL:0002092	88.71	gold quality
superficial temporal artery	UBERON:0001614	88.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

181 targeting PLEKHF2, 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-6740-5P	100.00	65.64	932
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1468-3P	99.96	72.74	3797

Literature-anchored findings (GeneRIF, showing 8)

• Results demonstrate that EAPF/Phafin-2 facilitates TNF-alpha-induced cellular apoptosis through an ER-mitochondrial apoptotic pathway. (PMID:18288467)
• These results provide a vivid example that an endosome modulator, such as Phafin2, may control the cells’ responses to the extracellular cues. (PMID:19995552)
• Phafin2 controls EGFR trafficking through early endosomes by facilitating endosome fusion in concert with EEA1. (PMID:22816767)
• These findings establish that lysosomal accumulation of Akt and Phafin2 is a critical step in the induction of autophagy via an interaction with phosphatidylinositol 3 phosphate. (PMID:24416124)
• PtdIns(3)P binding to Phafin2 occurs with high affinity, triggering minor conformational changes in the protein. Taken together, these studies represent a platform for establishing the structural basis of Phafin2 molecular interactions and the role of the two potentially redundant PtdIns(3)P-binding domains of the protein in endomembrane compartments. (PMID:28152563)
• The C-terminal acidic motif of Phafin2 inhibits PH domain binding to phosphatidylinositol 3-phosphate. (PMID:32126233)
• Bioinformatics analysis of the genes involved in the extension of prostate cancer to adjacent lymph nodes by supervised and unsupervised machine learning methods: The role of SPAG1 and PLEKHF2. (PMID:32619574)
• The phosphoinositide coincidence detector Phafin2 promotes macropinocytosis by coordinating actin organisation at forming macropinosomes. (PMID:34772942)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	plekhf2	ENSDARG00000021141
mus_musculus	Plekhf2	ENSMUSG00000049969
rattus_norvegicus	Plekhf2	ENSRNOG00000026662
drosophila_melanogaster	rush	FBGN0025381
caenorhabditis_elegans		WBGENE00014019

Paralogs (13): RUFY3 (ENSG00000018189), ZFYVE16 (ENSG00000039319), SNX29 (ENSG00000048471), ZFYVE26 (ENSG00000072121), RUNDC3B (ENSG00000105784), RUNDC3A (ENSG00000108309), PLEKHM2 (ENSG00000116786), ZFYVE28 (ENSG00000159733), ZFYVE1 (ENSG00000165861), ZFYVE19 (ENSG00000166140), PLEKHF1 (ENSG00000166289), RUFY1 (ENSG00000176783), RUFY2 (ENSG00000204130)

Protein

Protein identifiers

Pleckstrin homology domain-containing family F member 2 — Q9H8W4 (reviewed: Q9H8W4)

Alternative names: Endoplasmic reticulum-associated apoptosis-involved protein containing PH and FYVE domains, PH and FYVE domain-containing protein 2, Phafin-2, Zinc finger FYVE domain-containing protein 18

All UniProt accessions (1): Q9H8W4

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport. Enhances cellular sensitivity to TNF-induced apoptosis.

Subunit / interactions. May interact with EEA1.

Subcellular location. Early endosome membrane. Endoplasmic reticulum.

Tissue specificity. Expressed in placenta, ovary and small intestine, as well as in heart and pancreas. Also expressed in peripheral blood mononuclear cells and dendritic cells.

Domain organisation. The PH and FYVE domains may be important for TNF-induced localization to the endoplasmic reticulum and for enhanced cellular sensitivity to TNF-induced apoptosis. The FYVE domain is important for binding to the endosomal membrane.

Induction. Up-regulated by TNF, bacterial lipopolysaccharides (LPS) and phorbol myristate acetate (PMA) (at protein level).

RefSeq proteins (1): NP_078889* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000306	Znf_FYVE	Domain
IPR001849	PH_domain	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017455	Znf_FYVE-rel	Domain
IPR037871	PH_Phafin	Domain
IPR047966	PLEKHF2_FYVE	Domain
IPR051765	PH_domain-containing_F	Family

Pfam: PF00169, PF01363

UniProt features (18 total): binding site 8, modified residue 4, compositionally biased region 2, chain 1, domain 1, zinc finger region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H8W4-F1	87.36	0.78

Functional residue map

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

Ligand- & substrate-binding residues (8): 183; 186; 204; 207; 158; 161; 175; 178

Post-translational modifications (4): 16, 44, 239, 248

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 259 (showing top): GOBP_LYSOSOMAL_TRANSPORT, GOBP_ENDOSOME_ORGANIZATION, MODULE_255, GOBP_VESICLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_317, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, PATIL_LIVER_CANCER, MODULE_331, ONKEN_UVEAL_MELANOMA_UP, FOSTER_TOLERANT_MACROPHAGE_UP, SMID_BREAST_CANCER_LUMINAL_B_UP

GO Biological Process (3): endosome organization (GO:0007032), endosome to lysosome transport (GO:0008333), protein transport (GO:0015031)

GO Molecular Function (4): zinc ion binding (GO:0008270), phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (8): early endosome (GO:0005769), endoplasmic reticulum (GO:0005783), transport vesicle (GO:0030133), early endosome membrane (GO:0031901), endosome (GO:0005768), endomembrane system (GO:0012505), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system	3
cytoplasm	2
cytoplasmic vesicle	2
cellular anatomical structure	2
endomembrane system organization	1
vesicle organization	1
lysosomal transport	1
intercellular transport	1
vesicle-mediated transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
transition metal ion binding	1
anion binding	1
binding	1
cation binding	1
endosome	1
intracellular membrane-bounded organelle	1
early endosome	1
endosome membrane	1
vacuole	1
plasma membrane	1
intracellular vesicle	1

Protein interactions and networks

STRING

584 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLEKHF2	AKT1	P31749	571
PLEKHF2	PIKFYVE	Q9Y2I7	454
PLEKHF2	SNX29	Q8TEQ0	410
PLEKHF2	PLEKHG1	Q9ULL1	410
PLEKHF2	NOP53	Q9NZM5	379
PLEKHF2	FAM43A	Q8N2R8	379
PLEKHF2	VRK2	Q86Y07	375
PLEKHF2	INO80E	Q8NBZ0	350
PLEKHF2	PLEK2	Q9NYT0	349
PLEKHF2	PLEK	P08567	348
PLEKHF2	PHIP	Q8WWQ0	335
PLEKHF2	MED4	Q9NPJ6	333
PLEKHF2	PHF5A	Q7RTV0	332
PLEKHF2	CYRIA	Q9H0Q0	324
PLEKHF2	ZNF592	Q92610	323

IntAct

516 interactions, top by confidence:

A	B	Type	Score
PLEKHF2	FRMD8	psi-mi:“MI:0915”(physical association)	0.720
FBXO28	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.720
HSPB7	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.720
FRMD8	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.720
PLEKHF2	FBXO28	psi-mi:“MI:0915”(physical association)	0.720
MEAF6	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.700
PLEKHF2	MEAF6	psi-mi:“MI:0915”(physical association)	0.700
PLEKHF2	LDOC1	psi-mi:“MI:0915”(physical association)	0.700
PLEKHF2	TNFAIP8	psi-mi:“MI:0915”(physical association)	0.670
ACY3	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.670
PLEKHF2	ACY3	psi-mi:“MI:0915”(physical association)	0.670
BLOC1S6	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.670
RABAC1	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.620
CHIC2	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.620
MBIP	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.620

BioGRID (224): PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid), PLEKHF2 (Two-hybrid)

ESM2 similar proteins: A2ALK8, A7MB43, D3ZDI6, F1LYQ8, F1P065, F8VPU2, O08967, O43739, O94887, P12264, P26045, P29074, P52735, P59113, P63034, P63035, P97694, P97696, Q0IJ35, Q15438, Q28013, Q2KI41, Q32NH8, Q5R8M5, Q5RAB8, Q5RID7, Q5ZLY5, Q60992, Q6TEM9, Q76MY7, Q76MZ1, Q7ZUV1, Q80YW0, Q8BM54, Q8WY64, Q91VS8, Q91WB4, Q925E0, Q93646, Q96QG7

Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFP5, A2QWA2, A4QTV1, A8QCE4, A8XJZ8, B0G126, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D2H5P6, D3ZVP7, D4A8G9, E1BLZ4, F1MM41, F7EP40, O13821, O14964, O59722, O76902, O95405, O96838, P0CS26, P0CS27, P34756, P40343, Q05B78, Q08CN9, Q0CJV3, Q0P4S0, Q0U4Z8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PLEKHF2	“up-regulates activity”	EEA1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

355 predictions. Top by Δscore:

Variant	Effect	Δscore
8:95154026:AAAAG:A	acceptor_gain	1.0000
8:95154029:A:G	acceptor_gain	1.0000
8:95134027:CGGG:C	donor_loss	0.9900
8:95134028:GGG:G	donor_gain	0.9900
8:95134029:GG:G	donor_gain	0.9900
8:95134029:GGG:G	donor_gain	0.9900
8:95134030:GG:G	donor_gain	0.9900
8:95134031:G:GG	donor_gain	0.9900
8:95134032:T:G	donor_loss	0.9900
8:95154026:A:AG	acceptor_gain	0.9900
8:95154027:A:G	acceptor_gain	0.9900
8:95154027:AAAG:A	acceptor_gain	0.9900
8:95154028:A:G	acceptor_gain	0.9900
8:95154028:AAG:A	acceptor_gain	0.9900
8:95154029:A:AC	acceptor_loss	0.9900
8:95154030:G:GG	acceptor_gain	0.9900
8:95154030:G:GT	acceptor_loss	0.9900
8:95154030:GGCT:G	acceptor_gain	0.9900
8:95154029:AG:A	acceptor_gain	0.9800
8:95154030:GG:G	acceptor_gain	0.9800
8:95154030:GGC:G	acceptor_gain	0.9800
8:95154030:GGCTA:G	acceptor_gain	0.9800
8:95133976:G:GT	donor_gain	0.9600
8:95134026:TCGGG:T	donor_gain	0.9600
8:95148010:A:G	donor_gain	0.9500
8:95151961:A:G	donor_gain	0.9400
8:95153204:G:GT	donor_gain	0.9300
8:95134036:TG:T	donor_gain	0.9100
8:95156472:AATAT:A	acceptor_gain	0.9100
8:95134027:CGGGG:C	donor_gain	0.9000

AlphaMissense

1659 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:95154108:T:C	F22L	1.000
8:95154109:T:C	F22S	1.000
8:95154110:T:A	F22L	1.000
8:95154110:T:G	F22L	1.000
8:95154130:T:C	L29S	1.000
8:95154145:G:C	R34P	1.000
8:95154151:T:C	L36P	1.000
8:95154157:G:A	G38E	1.000
8:95154162:G:A	G40R	1.000
8:95154162:G:C	G40R	1.000
8:95154163:G:A	G40E	1.000
8:95154163:G:T	G40V	1.000
8:95154169:T:C	L42S	1.000
8:95154169:T:G	L42W	1.000
8:95154174:A:C	K44Q	1.000
8:95154174:A:G	K44E	1.000
8:95154176:G:C	K44N	1.000
8:95154176:G:T	K44N	1.000
8:95154180:T:C	C46R	1.000
8:95154181:G:A	C46Y	1.000
8:95154184:G:C	R47T	1.000
8:95154184:G:T	R47M	1.000
8:95154185:G:C	R47S	1.000
8:95154185:G:T	R47S	1.000
8:95154202:G:C	R53T	1.000
8:95154202:G:T	R53M	1.000
8:95154203:G:C	R53S	1.000
8:95154203:G:T	R53S	1.000
8:95154208:T:C	F55S	1.000
8:95154210:T:C	F56L	1.000

dbSNP variants (sampled 300 via entrez): RS1000352980 (8:95138720 A>G), RS1000416897 (8:95152636 G>A), RS1000465072 (8:95147628 T>C,G), RS1000519722 (8:95133831 G>A), RS1000612339 (8:95148199 GT>G,GTT), RS1000718757 (8:95133711 G>T), RS1000769868 (8:95135096 C>A), RS1000837769 (8:95155184 T>C), RS1000844907 (8:95146974 A>G), RS1000908296 (8:95141859 C>T), RS1000956719 (8:95140303 A>C,G), RS1001028568 (8:95154967 C>T), RS1001184232 (8:95152184 G>A), RS1001215403 (8:95151775 A>C), RS1001324664 (8:95136364 A>G)

Disease associations

OMIM: gene MIM:615208 | disease phenotypes: MIM:118100, MIM:613094, MIM:613703, MIM:615360

GenCC curated gene-disease

Mondo (4): Klippel-Feil syndrome 1, autosomal dominant (MONDO:0007306), isolated microphthalmia 4 (MONDO:0013130), microphthalmia, isolated, with coloboma 6 (MONDO:0013376), Leber congenital amaurosis 17 (MONDO:0014145)

Orphanet (4): Isolated Klippel-Feil syndrome (Orphanet:2345), Isolated microphthalmia-anophthalmia-coloboma (Orphanet:2542), Leber congenital amaurosis (Orphanet:65), Colobomatous microphthalmia (Orphanet:98938)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000823_8	Radiation response	8.000000e-06
GCST000823_9	Radiation response	4.000000e-07

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C536887	Klippel Feil syndrome dominant type (supp.)
C567757	Microphthalmia, Isolated 4 (supp.)

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
Valproic Acid	affects cotreatment, increases expression	4
Estradiol	decreases expression	3
Air Pollutants	increases abundance, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
bisphenol A	decreases expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	increases expression	1
Vorinostat	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	increases expression	1
Coal	increases abundance, decreases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Diethylstilbestrol	decreases expression	1
Gold	decreases expression	1
Hexestrol	decreases expression	1
Mestranol	decreases expression	1
Smoke	decreases expression, increases abundance	1
Thimerosal	increases expression, affects cotreatment	1
Thiram	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03741790	Not specified	ACTIVE_NOT_RECRUITING	Airway Management of Pediatric Patients With Klippel-Feil Syndrome
NCT06489392	Not specified	COMPLETED	Mehri Turki Webbed Neck Classification