KRT4

Summary

KRT4 (keratin 4, HGNC:6441) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 4 (P19013).

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.

Source: NCBI Gene 3851 — RefSeq curated summary.

At a glance

• Gene–disease (curated): white sponge nevus 1 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 195 total — 3 pathogenic
• Phenotypes (HPO): 3
• Druggable target: yes
• MANE Select transcript: NM_002272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6441
Approved symbol	KRT4
Name	keratin 4
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	CK4, K4
Ensembl gene	ENSG00000170477
Ensembl biotype	protein_coding
OMIM	123940
Entrez	3851

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding

ENST00000548097, ENST00000549295, ENST00000551436, ENST00000551956, ENST00000552668

RefSeq mRNA: 1 — MANE Select: NM_002272 NM_002272

CCDS: CCDS41787

Canonical transcript exons

ENST00000551956 — 9 exons

Exon	Start	End
ENSE00001265821	52806549	52807250
ENSE00001301647	52813597	52814116
ENSE00003513725	52810756	52810816
ENSE00003518895	52807359	52807393
ENSE00003520102	52809383	52809478
ENSE00003566038	52811763	52811977
ENSE00003578557	52808294	52808419
ENSE00003662817	52807644	52807864
ENSE00003676941	52808686	52808850

Expression profiles

Bgee: expression breadth ubiquitous, 179 present calls, max score 100.00.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 23.7828 / max 11580.0883, expressed in 103 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131158	23.5863	103
131155	0.0419	7
131157	0.0296	5
131154	0.0182	5
131142	0.0145	6
131140	0.0133	6
131153	0.0112	5
131156	0.0112	4
131143	0.0104	5
131144	0.0102	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tongue squamous epithelium	UBERON:0006919	100.00	gold quality
pharyngeal mucosa	UBERON:0000355	99.98	gold quality
lower esophagus mucosa	UBERON:0035834	99.97	gold quality
oral cavity	UBERON:0000167	99.96	gold quality
cervix squamous epithelium	UBERON:0006922	99.93	gold quality
body of tongue	UBERON:0011876	99.92	gold quality
esophagus squamous epithelium	UBERON:0006920	99.88	gold quality
palpebral conjunctiva	UBERON:0001812	99.87	gold quality
tongue	UBERON:0001723	99.83	gold quality
superior surface of tongue	UBERON:0007371	99.66	gold quality
esophagus mucosa	UBERON:0002469	99.52	gold quality
cervix epithelium	UBERON:0004801	99.51	gold quality
buccal mucosa cell	CL:0002336	99.22	gold quality
epithelium of esophagus	UBERON:0001976	99.15	gold quality
squamous epithelium	UBERON:0006914	98.92	gold quality
amniotic fluid	UBERON:0000173	97.96	gold quality
nasal cavity epithelium	UBERON:0005384	97.46	gold quality
gingiva	UBERON:0001828	96.40	gold quality
epithelium of nasopharynx	UBERON:0001951	96.23	gold quality
gingival epithelium	UBERON:0001949	95.26	gold quality
vagina	UBERON:0000996	93.73	gold quality
urethra	UBERON:0000057	92.02	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.61	gold quality
nasal cavity mucosa	UBERON:0001826	91.57	gold quality
esophagus	UBERON:0001043	88.47	gold quality
uterine cervix	UBERON:0000002	88.34	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.59	gold quality
epithelium of bronchus	UBERON:0002031	87.00	gold quality
bronchus	UBERON:0002185	86.52	gold quality
sperm	CL:0000019	85.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	246.53
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ELF3, KLF4, KLF6, RARA, SP1

miRNA regulators (miRDB)

36 targeting KRT4, 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-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-182-3P	99.57	67.57	825
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-3923	99.52	69.21	446
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-3117-5P	99.04	67.93	618
HSA-MIR-6873-5P	98.45	66.14	1417
HSA-MIR-6870-3P	98.08	65.10	692
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-4475	97.36	66.95	761
HSA-MIR-1225-3P	97.29	64.60	876
HSA-MIR-3622A-3P	97.06	66.43	1000

Literature-anchored findings (GeneRIF, showing 15)

• Deletion of the srr-1 gene in the genome of S. agalactiae revealed that this gene plays a role in bacterial binding to human K4 and that it is involved in adherence to epithelial HEp-2 cells. (PMID:17709412)
• 2 new mutations were found in the keratin 4 gene, the heterozygous missense mutation 1829G–>A in exon 2B, and 2324A–>G in non-coding region, which may be related with the development of WSN. (PMID:18992023)
• Failure to phosphorylate HsCyk-4 blocks Ect2 recruitment to the central spindle and the subsequent induction of furrowing. (PMID:19468300)
• Data found that Plk1 binds and directly phosphorylates the HsCYK-4 at the midzone and this modification creates a major docking site for the tandem BRCT repeats of the Rho GTP exchange factor Ect2. (PMID:19468302)
• Infection by HPV stimulates the expression of cytokeratin 4 (PMID:19515043)
• The aberrant expression of K4 and K13 and concomitant up-regulation of the other keratins may be one of the causative factors for morphological alterations in the affected epithelium. (PMID:21371075)
• Fascin has a potential role as an early detection biomarker and CK4 as a tumor marker in esophageal squamous cell carcinoma. (PMID:21498718)
• Identification of a mutation of the keratin 4 gene recurrent in a family affected by white sponge nevus. (PMID:23182699)
• The crystal structure of recombinant Srr-1-K4BD(485-642) and its possible mode of interaction with K4 through docking studies, are reported. (PMID:25603146)
• The aim of the study was to determine whether KRT4 or KRT13 gene mutation was the molecular basis of oral white sponge nevus. Deletion in the KRT4 gene was found to be a common polymorphism reflecting a high allele frequency of 31.25% in the Turkish population (PMID:29476668)
• Study indicated the mutated KRT4 gene may play important roles in the pathogenesis of white sponge nevus. (PMID:29738605)
• CD24 and CK4 are upregulated by SIM2, and are predictive biomarkers for chemoradiotherapy and surgery in esophageal cancer. (PMID:32124945)
• Negative regulation of miR-1288-3p/KRT4 axis through a circular RNA in oral cancer. (PMID:35707935)
• White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report. (PMID:36553451)
• Splice site m[6]A methylation prevents binding of DGCR8 to suppress KRT4 pre-mRNA splicing in oral squamous cell carcinoma. (PMID:36811004)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krt4	ENSMUSG00000059668
rattus_norvegicus	Krt4	ENSRNOG00000032332

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)

Protein

Protein identifiers

Keratin, type II cytoskeletal 4 — P19013 (reviewed: P19013)

Alternative names: Cytokeratin-4, Keratin-4, Type-II keratin Kb4

All UniProt accessions (3): P19013, F8VX05, F8VZR6

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Heterotetramer of two type I and two type II keratins. Keratin-4 is generally associated with keratin-13.

Tissue specificity. Detected in the suprabasal layer of the stratified epithelium of the esophagus, exocervix, vagina, mouth and lingual mucosa, and in cells and cell clusters in the mucosa and serous gland ducts of the esophageal submucosa (at protein level). Expressed widely in the exocervix and esophageal epithelium, with lowest levels detected in the basal cell layer.

Disease relevance. White sponge nevus 1 (WSN1) [MIM:193900] A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. Three alleles of K4 are known: K4A1, K4A2 and K4B (displayed here).

Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_002263* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003054	Keratin_II	Family
IPR018039	IF_conserved	Conserved_site
IPR032444	Keratin_2_head	Domain
IPR039008	IF_rod_dom	Domain

Pfam: PF00038, PF16208

UniProt features (22 total): region of interest 8, sequence conflict 5, sequence variant 4, chain 1, domain 1, compositionally biased region 1, site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P19013-F1	71.77	0.47

Functional residue map

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

Catalytic / active sites (1): 388 (stutter)

Post-translational modifications (1): 13

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 168 (showing top): GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, MODULE_52, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, YAGI_AML_WITH_INV_16_TRANSLOCATION, MACLACHLAN_BRCA1_TARGETS_DN, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, MODULE_45, GOCC_CELL_SURFACE, MODULE_16, LEE_LIVER_CANCER_CIPROFIBRATE_DN, MODULE_66, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, MODULE_205, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN

GO Biological Process (5): cytoskeleton organization (GO:0007010), epithelial cell differentiation (GO:0030855), keratinization (GO:0031424), intermediate filament organization (GO:0045109), negative regulation of epithelial cell proliferation (GO:0050680)

GO Molecular Function (2): structural constituent of skin epidermis (GO:0030280), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), cytosol (GO:0005829), intermediate filament (GO:0005882), cell surface (GO:0009986), keratin filament (GO:0045095), intermediate filament cytoskeleton (GO:0045111)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Developmental Biology	1
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
organelle organization	1
cell differentiation	1
epithelium development	1
keratinocyte differentiation	1
multicellular organismal process	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
negative regulation of cell population proliferation	1
epithelial cell proliferation	1
regulation of epithelial cell proliferation	1
structural molecule activity	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
intermediate filament	1
cytoskeleton	1

Protein interactions and networks

STRING

1540 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT4	KRT13	P13646	808
KRT4	MT1A	P04731	666
KRT4	SRR	Q9GZT4	665
KRT4	MT2A	P02795	590
KRT4	KRT33A	O76009	549
KRT4	IVL	P07476	525
KRT4	CRNN	Q9UBG3	521
KRT4	MT4	P47944	491
KRT4	H3BSS0	H3BSS0	491
KRT4	ITGA6	P23229	469
KRT4	PTPN13	Q12923	459
KRT4	SPRR3	Q9UBC9	451
KRT4	TGM3	Q08188	446
KRT4	DRC12	Q494R4	438
KRT4	MUC5AC	P98088	437

IntAct

120 interactions, top by confidence:

A	B	Type	Score
KRT38	KRT4	psi-mi:“MI:0915”(physical association)	0.830
KRT4	KRT38	psi-mi:“MI:0915”(physical association)	0.830
KRT4	KRT33B	psi-mi:“MI:0915”(physical association)	0.780
KRT4	KRT40	psi-mi:“MI:0915”(physical association)	0.780
KRT33B	KRT4	psi-mi:“MI:0915”(physical association)	0.780
KRT4	KRT15	psi-mi:“MI:0915”(physical association)	0.720
KRT15	KRT4	psi-mi:“MI:0915”(physical association)	0.720
KRT4	KRT13	psi-mi:“MI:0915”(physical association)	0.670
KRT13	KRT4	psi-mi:“MI:0915”(physical association)	0.670
KRT4	TRIM54	psi-mi:“MI:0915”(physical association)	0.670
KRT13	KRT4	psi-mi:“MI:0915”(physical association)	0.560
KRT4	KRT13	psi-mi:“MI:0915”(physical association)	0.560
NUMA1	KRT4	psi-mi:“MI:0915”(physical association)	0.560
KRT4	TUBGCP4	psi-mi:“MI:0915”(physical association)	0.560
KRT4	KRT35	psi-mi:“MI:0915”(physical association)	0.560

ESM2 similar proteins: A0JND2, A3KN27, A5A6N0, A6BLY7, A6H712, A6QNX5, A7YWK3, E1AB55, P07744, P08729, P19013, P25691, Q0P5J4, Q0P5J6, Q0P5J7, Q0VBK2, Q148H5, Q148H6, Q148H7, Q148H8, Q14CN4, Q3SY84, Q5XKE5, Q64291, Q6IFW8, Q6IFZ9, Q6IG00, Q6IG01, Q6IG03, Q6IG04, Q6IME9, Q6IMF0, Q6IMF1, Q6KB66, Q6NXH9, Q6R649, Q7RTS7, Q7Z3Y7, Q7Z3Y9, Q7Z794

Diamond homologs: A0A125S9M6, A0JND2, A4FUZ0, A5A6M8, A6NCN2, A7YWK3, O43790, P02542, P02545, P02547, P02548, P04104, P04260, P04261, P04262, P04263, P07196, P07744, P08551, P08928, P09010, P10999, P12035, P12036, P13647, P13648, P15241, P16884, P19013, P19246, P19527, P21619, P21910, P25691, P35908, P48671, P48672, P48678, P48679, P78385

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ELF3	“down-regulates quantity by repression”	KRT4	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 69 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the cornified envelope	16	28.1×	3e-17
Keratinization	16	17.8×	3e-14

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	15	84.6×	1e-23
intermediate filament organization	17	67.1×	8e-25
epithelial cell differentiation	14	40.3×	4e-17

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	109
Likely benign	22
Benign	39

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
16918	NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del)	Pathogenic
16919	NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys)	Pathogenic
16920	NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys)	Pathogenic

SpliceAI

902 predictions. Top by Δscore:

Variant	Effect	Δscore
12:52807246:CACAG:C	acceptor_gain	1.0000
12:52807247:ACAG:A	acceptor_gain	1.0000
12:52807248:CAG:C	acceptor_gain	1.0000
12:52807248:CAGC:C	acceptor_gain	1.0000
12:52807249:AG:A	acceptor_gain	1.0000
12:52807250:GC:G	acceptor_loss	1.0000
12:52807251:C:CC	acceptor_gain	1.0000
12:52807251:CTGCA:C	acceptor_loss	1.0000
12:52807252:T:C	acceptor_loss	1.0000
12:52807254:C:CT	acceptor_gain	1.0000
12:52807255:A:T	acceptor_gain	1.0000
12:52807353:ACTT:A	donor_loss	1.0000
12:52807354:CTT:C	donor_loss	1.0000
12:52807355:TTACA:T	donor_loss	1.0000
12:52807356:TA:T	donor_loss	1.0000
12:52807357:A:AC	donor_gain	1.0000
12:52807357:ACA:A	donor_loss	1.0000
12:52807358:C:CA	donor_gain	1.0000
12:52807358:CA:C	donor_gain	1.0000
12:52807390:CATT:C	acceptor_gain	1.0000
12:52807391:ATT:A	acceptor_gain	1.0000
12:52807392:TT:T	acceptor_gain	1.0000
12:52807392:TTCTG:T	acceptor_loss	1.0000
12:52807394:C:CC	acceptor_gain	1.0000
12:52807395:T:A	acceptor_loss	1.0000
12:52807860:TGGCA:T	acceptor_gain	1.0000
12:52807863:CA:C	acceptor_gain	1.0000
12:52807865:C:CC	acceptor_gain	1.0000
12:52808289:CCCA:C	donor_loss	1.0000
12:52808290:CCAC:C	donor_loss	1.0000

AlphaMissense

3431 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:52810759:C:A	K245N	0.993
12:52810759:C:G	K245N	0.993
12:52807834:C:G	A386P	0.986
12:52808709:C:G	A326P	0.983
12:52810793:C:G	R234P	0.983
12:52810771:A:C	F241L	0.981
12:52810771:A:T	F241L	0.981
12:52810773:A:G	F241L	0.981
12:52808325:A:G	L365P	0.979
12:52808346:A:G	L358P	0.978
12:52810785:C:G	A237P	0.978
12:52809385:C:G	A278P	0.973
12:52813615:A:C	F148L	0.973
12:52813615:A:T	F148L	0.973
12:52813617:A:G	F148L	0.973
12:52807801:C:G	A397P	0.971
12:52810763:A:G	L244P	0.968
12:52810794:G:T	R234S	0.966
12:52807671:C:G	R440P	0.965
12:52808376:A:G	L348P	0.965
12:52808409:A:G	L337P	0.965
12:52810760:T:G	K245T	0.965
12:52810761:T:C	K245E	0.962
12:52807665:A:G	L442P	0.961
12:52808730:C:G	A319P	0.957
12:52807771:C:G	A407P	0.955
12:52807813:C:G	A393P	0.955
12:52807686:T:A	E435V	0.951
12:52808804:A:T	L294H	0.951
12:52807681:C:G	A437P	0.949

dbSNP variants (sampled 300 via entrez): RS1000838607 (12:52812052 C>T), RS1001555526 (12:52814710 A>T), RS1001785457 (12:52813437 G>A), RS1001949424 (12:52807446 A>G), RS1002465793 (12:52806809 G>A), RS1003837732 (12:52814450 C>T), RS1005025513 (12:52808732 A>G), RS1005528594 (12:52810487 C>T), RS1005832172 (12:52811528 G>A), RS1005876920 (12:52815345 C>T), RS1006149819 (12:52811137 C>T), RS1006402854 (12:52814790 T>G), RS1006578502 (12:52810219 G>A), RS1007181806 (12:52809846 C>A), RS1007248557 (12:52812847 C>A)

Disease associations

OMIM: gene MIM:123940 | disease phenotypes: MIM:193900

GenCC curated gene-disease

Disease	Classification	Inheritance
white sponge nevus 1	Strong	Autosomal dominant
hereditary mucosal leukokeratosis	Supportive	Autosomal dominant

Mondo (2): white sponge nevus 1 (MONDO:0008676), hereditary mucosal leukokeratosis (MONDO:0015748)

Orphanet (0):

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000502	Abnormal conjunctiva morphology
HP:0002745	Oral leukoplakia

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D053529	Leukokeratosis, Hereditary Mucosal	C16.320.850.542; C17.800.827.595

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066261 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, decreases expression	4
bisphenol A	decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Estradiol	decreases expression	2
Silicon Dioxide	decreases expression	2
Smoke	decreases expression, increases abundance	2
Tretinoin	increases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	increases expression	1
methyleugenol	decreases expression	1
propionaldehyde	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
glycidyl methacrylate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects localization, decreases expression, increases expression, affects cotreatment	1
terbufos	increases methylation	1
2,3-pentanedione	increases expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
beryllium sulfate	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
ormosil	decreases expression, affects binding	1
bromovanin	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	decreases expression, increases abundance	1
Dinitrochlorobenzene	affects binding	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5683071	Binding	Inhibition of CK4 (unknown origin) at 1 uM relative to control	Preclinical characterization of GLPG0634, a selective inhibitor of JAK1, for the treatment of inflammatory diseases. — J Immunol

Clinical trials (associated diseases)

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