ZNF750

Summary

ZNF750 (zinc finger protein 750, HGNC:25843) is a protein-coding gene on chromosome 17q25.3, encoding Zinc finger protein 750 (Q32MQ0). Transcription factor involved in epidermis differentiation.

This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements.

Source: NCBI Gene 79755 — RefSeq curated summary.

At a glance

• Gene–disease (curated): seborrhea-like dermatitis with psoriasiform elements (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 3 total
• Phenotypes (HPO): 5
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 2 cancer types
• MANE Select transcript: NM_024702

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25843
Approved symbol	ZNF750
Name	zinc finger protein 750
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13841, Zfp750
Ensembl gene	ENSG00000141579
Ensembl biotype	protein_coding
OMIM	610226
Entrez	79755

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000269394, ENST00000572562

RefSeq mRNA: 1 — MANE Select: NM_024702 NM_024702

CCDS: CCDS11819

Canonical transcript exons

ENST00000269394 — 3 exons

Exon	Start	End
ENSE00000949894	82831019	82832636
ENSE00000949895	82829434	82830877
ENSE00002634919	82839927	82840022

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 98.42.

FANTOM5 (CAGE): breadth broad, TPM avg 4.3637 / max 607.4569, expressed in 287 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169004	3.9187	280
169003	0.4450	166

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oral cavity	UBERON:0000167	98.42	gold quality
penis	UBERON:0000989	98.10	gold quality
gingiva	UBERON:0001828	97.88	gold quality
pharyngeal mucosa	UBERON:0000355	97.86	gold quality
cervix squamous epithelium	UBERON:0006922	97.81	gold quality
gingival epithelium	UBERON:0001949	97.70	gold quality
upper leg skin	UBERON:0004262	97.39	gold quality
mammalian vulva	UBERON:0000997	97.08	gold quality
upper arm skin	UBERON:0004263	97.02	gold quality
skin of abdomen	UBERON:0001416	96.74	gold quality
skin of leg	UBERON:0001511	96.58	gold quality
zone of skin	UBERON:0000014	96.45	gold quality
parotid gland	UBERON:0001831	95.42	gold quality
tongue squamous epithelium	UBERON:0006919	95.41	gold quality
cervix epithelium	UBERON:0004801	95.40	gold quality
esophagus mucosa	UBERON:0002469	94.99	gold quality
nipple	UBERON:0002030	94.83	gold quality
skin of hip	UBERON:0001554	94.62	gold quality
squamous epithelium	UBERON:0006914	94.43	gold quality
lower esophagus mucosa	UBERON:0035834	93.69	gold quality
body of tongue	UBERON:0011876	92.77	gold quality
epithelium of esophagus	UBERON:0001976	92.54	gold quality
esophagus squamous epithelium	UBERON:0006920	92.37	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.26	gold quality
tongue	UBERON:0001723	90.47	gold quality
palpebral conjunctiva	UBERON:0001812	89.56	gold quality
superior surface of tongue	UBERON:0007371	86.74	gold quality
epithelium of nasopharynx	UBERON:0001951	86.10	gold quality
nasal cavity mucosa	UBERON:0001826	86.05	gold quality
saliva-secreting gland	UBERON:0001044	85.96	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	127.05
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
SNAI1	Repression

Upstream regulators (CollecTRI, top): KLF4, TP63

miRNA regulators (miRDB)

59 targeting ZNF750, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-5093	99.67	69.26	2291

Literature-anchored findings (GeneRIF, showing 26)

• ZNF750 mutations could contribute to psoriasis susceptibility. (PMID:18256691)
• Two haplotypes of ZNF750 and rare 5’ regulatory variants of ZNF750 were found to be associated with psoriasis. (PMID:22185198)
• ZNF750 directly links a tissue-specifying factor, p63, to an effector of terminal differentiation, KLF4. (PMID:22364861)
• ZNF750 was specifically expressed in the epidermal suprabasal layers and its expression was augmented during differentiation, both in human skin and in-vitro, peaking in the granular layer. (PMID:22936986)
• Suggest no connection of ZNF750 variants with psoriasis or its subphenotypes. (PMID:24005976)
• ZNF750 thus controls differentiation in concert with RCOR1 and CTBP1/2 by acting with either KDM1A to repress progenitor genes or KLF4 to induce differentiation genes. (PMID:25228645)
• ZNF750 Mutation is associated with esophageal squamous cell carcinoma. (PMID:27749841)
• ZNF750 expression predicts sensitivity to CRT and can be a biomarker that reliably predicts the response of ESCC to CRT. (PMID:28558382)
• The low expression of ZNF750 was significantly associated with a poor prognosis. (PMID:29216641)
• ZNF750 acts as a potential tumor suppressor gene, and regulates tumor microenvironment. (PMID:29890464)
• The findings uncovered the critical role of N(6)-methyladenosine in nasopharyngeal carcinoma (NPC), and stressed the regulatory function of the ZNF750-FGF14 signaling axis in modulating NPC progression, which provides theoretical guidance for the clinical treatment of NPC. (PMID:30518868)
• Study revealed that ZNF750 is both necessary and sufficient for HOPX induction and propose that HOPX functions as a positive regulator of epidermal late differentiation within a p63-ZNF750-HOPX pathway to up-regulate the key proteins required for terminal epidermal differentiation, providing clarity to previous studies showing conflicting results. (PMID:30959041)
• Loss of ZNF750 expression is seen even in tumors without truncating mutations and reduced in many of the remaining ocular and cutaneous Sebaceous carcinoma. In contrast, no ZNF750 loss was detected in benign sebaceous proliferations (PMID:31148199)
• the cell cycle pathway was a key factor involved in the anti-tumor effect of ZNF750 in CAL-27 cells. (PMID:31545271)
• Novel ESCC-related gene ZNF750 as potential Prognostic biomarker and inhibits Epithelial-Mesenchymal Transition through directly depressing SNAI1 promoter in ESCC. (PMID:32042337)
• Zinc finger protein 750(ZNF750), negatively regulated by miR-17-5p, inhibits proliferation, motility and invasion of colonic cancer cells. (PMID:32246873)
• ZNF750 represses breast cancer invasion via epigenetic control of prometastatic genes. (PMID:32313225)
• ZNF750 inhibits the proliferation and invasion of melanoma cells through modulating the Wnt/b-catenin signaling pathway. (PMID:33185885)
• Identification of calmodulin-like protein 5 as tumor-suppressor gene silenced during early stage of carcinogenesis in squamous cell carcinoma of uterine cervix. (PMID:33997976)
• Resveratrol suppresses malignant progression of oral squamous cell carcinoma cells by inducing the ZNF750/RAC1 signaling pathway. (PMID:34176441)
• PAX6 upstream antisense RNA (PAUPAR) inhibits colorectal cancer progression through modulation of the microRNA (miR)-17-5p / zinc finger protein 750 (ZNF750) axis. (PMID:34288812)
• Biased expression of mutant alleles in cancer-related genes in esophageal squamous cell carcinoma. (PMID:35013873)
• ZNF750 facilitates carcinogenesis via promoting the expression of long non-coding RNA CYTOR and influences pharmacotherapy response in colon adenocarcinoma. (PMID:35794688)
• ZNF750: A Novel Prognostic Biomarker in Metastatic Prostate Cancer. (PMID:37047491)
• The GRHL3-regulated long non-coding RNA lnc-DC modulates keratinocytes differentiation by interacting with IGF2BP2 and up-regulating ZNF750. (PMID:38383230)
• The transcription regulators ZNF750 and LSD1/KDM1A dampen inflammation on the skin’s surface by silencing pattern recognition receptors. (PMID:39353440)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf750	ENSDARG00000102267
mus_musculus	Zfp750	ENSMUSG00000039238
rattus_norvegicus	Znf750	ENSRNOG00000046482

Paralogs (2): PRR35 (ENSG00000161992), NHLRC4 (ENSG00000257108)

Protein

Protein identifiers

Zinc finger protein 750 — Q32MQ0 (reviewed: Q32MQ0)

All UniProt accessions (2): Q32MQ0, I3L0W7

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression.

Subcellular location. Nucleus.

Tissue specificity. Expressed in the skin, prostate, lung, placenta and thymus, and at low level in T-cells. Not expressed in peripheral blood leukocytes, pancreas and brain. Clearly expressed in primary keratinocytes but not in fibroblasts.

Disease relevance. Seborrhea-like dermatitis with psoriasiform elements (SLDP) [MIM:610227] Characterized by a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal joints is evident. There is no arthralgia, arthritis or neurological disorders. The disease is caused by variants affecting the gene represented in this entry.

Induction. During epidermal differentiation: expression is activated by p63/TP63.

RefSeq proteins (1): NP_078978* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039064	ZNF750_Znf	Domain
IPR039363	ZNF750	Family

Pfam: PF15269

UniProt features (31 total): compositionally biased region 9, region of interest 5, mutagenesis site 5, binding site 4, sequence variant 3, chain 1, zinc finger region 1, sequence conflict 1, turn 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8SXM	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q32MQ0-F1	48.31	0.02

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 (4): 27; 30; 43; 49

Mutagenesis-validated functional residues (5):

Position	Phenotype
27	abolishes the ability to induce epidermal terminal differentiation; when associated with a-30.
30	abolishes the ability to induce epidermal terminal differentiation; when associated with a-27.
34	retains the ability to bind zinc; when associated with a-39.
39	abolishes the ability to induce epidermal terminal differentiation; when associated with a-43. retains the ability to bi
43	abolishes the ability to induce epidermal terminal differentiation; when associated with a-39.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 110 (showing top): JAEGER_METASTASIS_DN, PEREZ_TP63_TARGETS, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, RICKMAN_METASTASIS_DN, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_EPIDERMIS_DEVELOPMENT, PEREZ_TP53_AND_TP63_TARGETS, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_MESENCHYME_DEVELOPMENT, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, GOMF_CHROMATIN_BINDING

GO Biological Process (10): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), epidermis development (GO:0008544), positive regulation of gene expression (GO:0010628), negative regulation of epithelial to mesenchymal transition (GO:0010719), cell differentiation (GO:0030154), membrane biogenesis (GO:0044091), positive regulation of transcription by RNA polymerase II (GO:0045944), establishment of skin barrier (GO:0061436), positive regulation of ceramide biosynthetic process (GO:2000304)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), zinc ion binding (GO:0008270), promoter-specific chromatin binding (GO:1990841), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of transcription by RNA polymerase II	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
negative regulation of DNA-templated transcription	1
regulation of DNA-templated transcription	1
tissue development	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
negative regulation of cell differentiation	1
negative regulation of multicellular organismal process	1
cellular developmental process	1
cellular component biogenesis	1
positive regulation of DNA-templated transcription	1
skin epidermis development	1
ceramide biosynthetic process	1
positive regulation of sphingolipid biosynthetic process	1
regulation of ceramide biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription repressor activity	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
chromatin binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

846 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF750	KLF4	P78338	854
ZNF750	CTBP1	Q13363	705
ZNF750	KDM1A	O60341	672
ZNF750	RCOR1	Q9UKL0	663
ZNF750	GRHL3	Q8TE85	659
ZNF750	CARD14	Q9BXL6	591
ZNF750	FAT1	Q14517	552
ZNF750	FAT2	Q9NYQ8	524
ZNF750	KMT2D	O14686	481
ZNF750	TP63	Q9H3D4	480
ZNF750	HDAC1	Q13547	475
ZNF750	NOTCH1	P46531	473
ZNF750	MPZL3	Q6UWV2	473
ZNF750	OVOL1	O14753	462
ZNF750	FAM135B	Q49AJ0	450

IntAct

4 interactions, top by confidence:

A	B	Type	Score
CTBP2	ZNF750	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (48): ZNF750 (Two-hybrid), RCOR1 (Affinity Capture-MS), KDM1A (Affinity Capture-MS), CTBP1 (Affinity Capture-MS), CTBP2 (Affinity Capture-MS), RBBP7 (Affinity Capture-MS), CBX3 (Affinity Capture-MS), HDAC1 (Affinity Capture-MS), ZNF516 (Affinity Capture-MS), KLF4 (Affinity Capture-MS), TFAP2A (Affinity Capture-MS), CNOT1 (Affinity Capture-MS), TARDBP (Affinity Capture-MS), ZNF185 (Affinity Capture-MS), PRC1 (Affinity Capture-MS)

ESM2 similar proteins: A2VDR9, A5PKG8, A6NMT0, A7MB40, A8MUI8, E2R9X2, O00257, O15353, O43151, O55187, P19419, P30658, P48382, P52950, P59598, Q03989, Q0GGX2, Q13029, Q14781, Q28BT7, Q2MHN3, Q32MQ0, Q32N19, Q3SWY1, Q3TEI4, Q3U108, Q3UHR0, Q497V6, Q568E2, Q571I4, Q5JPB2, Q5NSW5, Q5TGY3, Q61818, Q6PAL7, Q6ZRI6, Q7TSH3, Q7Z5J4, Q811R2, Q86YN6

Diamond homologs: A2VDR9, P0CG20, Q28BT7, Q32MQ0, Q32N19, Q568E2, Q8BH05

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 2 cancer types — ESCA, LUSC.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

575 predictions. Top by Δscore:

Variant	Effect	Δscore
17:82830873:TGAGG:T	acceptor_gain	0.9900
17:82830876:GG:G	acceptor_gain	0.9900
17:82830878:C:CC	acceptor_gain	0.9900
17:82833513:AAAT:A	acceptor_gain	0.9900
17:82833514:A:C	donor_gain	0.9900
17:82833516:T:TA	acceptor_gain	0.9900
17:82833546:T:TA	donor_gain	0.9900
17:82839923:TTA:T	donor_loss	0.9900
17:82839924:TAC:T	donor_loss	0.9900
17:82839925:ACCA:A	donor_loss	0.9900
17:82839926:C:CG	donor_gain	0.9900
17:82839926:CCAGA:C	donor_gain	0.9900
17:82830874:GAGGC:G	acceptor_loss	0.9800
17:82830875:AGGCT:A	acceptor_loss	0.9800
17:82830877:GC:G	acceptor_loss	0.9800
17:82830878:CTA:C	acceptor_loss	0.9800
17:82830879:T:G	acceptor_loss	0.9800
17:82832637:C:CC	acceptor_gain	0.9800
17:82833526:A:AC	donor_gain	0.9800
17:82833527:C:CC	donor_gain	0.9800
17:82839925:A:AC	donor_gain	0.9800
17:82839926:CCA:C	donor_gain	0.9800
17:82839926:CCAG:C	donor_gain	0.9800
17:82830874:GAGG:G	acceptor_gain	0.9700
17:82831018:CCTTA:C	donor_gain	0.9700
17:82832632:GGGAG:G	acceptor_gain	0.9700
17:82839925:AC:A	donor_gain	0.9700
17:82839926:CC:C	donor_gain	0.9700
17:82830875:AGG:A	acceptor_gain	0.9600
17:82831022:A:AC	donor_gain	0.9600

AlphaMissense

4674 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:82832328:G:C	H43D	1.000
17:82832340:G:C	H39D	1.000
17:82832359:A:C	F32L	1.000
17:82832359:A:T	F32L	1.000
17:82832361:A:G	F32L	1.000
17:82832367:A:G	C30R	1.000
17:82832371:G:C	F28L	1.000
17:82832371:G:T	F28L	1.000
17:82832373:A:G	F28L	1.000
17:82832374:A:C	C27W	1.000
17:82832375:C:G	C27S	1.000
17:82832376:A:G	C27R	1.000
17:82832376:A:T	C27S	1.000
17:82832405:C:A	R17M	1.000
17:82832310:A:G	C49R	0.999
17:82832320:C:A	K45N	0.999
17:82832320:C:G	K45N	0.999
17:82832322:T:C	K45E	0.999
17:82832326:G:C	H43Q	0.999
17:82832326:G:T	H43Q	0.999
17:82832327:T:G	H43P	0.999
17:82832328:G:T	H43N	0.999
17:82832329:A:C	N42K	0.999
17:82832329:A:T	N42K	0.999
17:82832332:A:C	F41L	0.999
17:82832332:A:T	F41L	0.999
17:82832333:A:G	F41S	0.999
17:82832334:A:G	F41L	0.999
17:82832336:A:G	L40P	0.999
17:82832338:A:C	H39Q	0.999

dbSNP variants (sampled 300 via entrez): RS1000038308 (17:82834915 G>A), RS1000431591 (17:82829630 G>A), RS1000823849 (17:82838364 G>A), RS1000874720 (17:82838542 A>G), RS1000968951 (17:82838773 A>G), RS1001042710 (17:82833619 C>T), RS1001054555 (17:82838582 C>G), RS1001477834 (17:82833374 G>A), RS1001537893 (17:82836371 T>G), RS1001791048 (17:82831415 G>C,T), RS1002103012 (17:82838666 C>G,T), RS1002423041 (17:82829296 C>A,T), RS1002764059 (17:82838860 C>T), RS1003105439 (17:82831598 G>A), RS1003314043 (17:82835510 C>T)

Disease associations

OMIM: gene MIM:610226 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
seborrhea-like dermatitis with psoriasiform elements	Moderate	Autosomal dominant

Mondo (1): seborrhea-like dermatitis with psoriasiform elements (MONDO:0012446)

Orphanet (0):

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000962	Hyperkeratosis
HP:0001051	Seborrheic dermatitis
HP:0025092	Epidermal acanthosis
HP:0032152	Keratosis pilaris

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008358_1	Response to cognitive-behavioural therapy in anxiety and major depressive disorders	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007820	cognitive behavioural therapy

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565217	Seborrhea-Like Dermatitis with Psoriasiform Elements (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression, increases methylation	10
trichostatin A	affects cotreatment, increases expression	3
Tetrachlorodibenzodioxin	decreases expression, increases expression, affects cotreatment	3
mercuric bromide	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
sodium arsenate	increases abundance, decreases expression	1
arsenite	increases methylation	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Coumestrol	decreases expression	1
Methapyrilene	decreases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0X2	Ubigene KYSE-30 ZNF750 KO	Cancer cell line	Male
CVCL_E1LQ	HyCyte KYSE-150 KO-hZNF750	Cancer cell line	Female

Clinical trials (associated diseases)

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