KRT13

Summary

KRT13 (keratin 13, HGNC:6415) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cytoskeletal 13 (P13646). Type 1 keratin.

The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described.

Source: NCBI Gene 3860 — RefSeq curated summary.

At a glance

• Gene–disease (curated): white sponge nevus 2 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 149 total — 2 pathogenic
• Phenotypes (HPO): 4
• MANE Select transcript: NM_153490

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6415
Approved symbol	KRT13
Name	keratin 13
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	K13, CK13, MGC3781, MGC161462
Ensembl gene	ENSG00000171401
Ensembl biotype	protein_coding
OMIM	148065
Entrez	3860

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000246635, ENST00000336861, ENST00000464634, ENST00000468313, ENST00000475217, ENST00000587118, ENST00000587435, ENST00000587544, ENST00000590425, ENST00000970738

RefSeq mRNA: 2 — MANE Select: NM_153490 NM_002274, NM_153490

CCDS: CCDS11396, CCDS11397

Canonical transcript exons

ENST00000246635 — 8 exons

Exon	Start	End
ENSE00000723953	41501719	41501744
ENSE00003473058	41503287	41503443
ENSE00003543379	41503643	41503725
ENSE00003611245	41502687	41502812
ENSE00003635239	41502937	41503098
ENSE00003650505	41500981	41501362
ENSE00003659862	41502374	41502594
ENSE00003845568	41505056	41505612

Expression profiles

Bgee: expression breadth ubiquitous, 189 present calls, max score 100.00.

FANTOM5 (CAGE): breadth broad, TPM avg 65.6173 / max 28533.3130, expressed in 282 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165941	65.3499	276
165942	0.1443	25
165943	0.0470	13
165915	0.0278	9
165945	0.0251	10
165914	0.0116	7
165944	0.0116	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	100.00	gold quality
esophagus squamous epithelium	UBERON:0006920	99.99	gold quality
oral cavity	UBERON:0000167	99.98	gold quality
pharyngeal mucosa	UBERON:0000355	99.98	gold quality
gingiva	UBERON:0001828	99.97	gold quality
gingival epithelium	UBERON:0001949	99.97	gold quality
tongue squamous epithelium	UBERON:0006919	99.97	gold quality
body of tongue	UBERON:0011876	99.96	gold quality
buccal mucosa cell	CL:0002336	99.89	gold quality
tongue	UBERON:0001723	99.89	gold quality
squamous epithelium	UBERON:0006914	99.88	gold quality
esophagus mucosa	UBERON:0002469	99.87	gold quality
palpebral conjunctiva	UBERON:0001812	99.86	gold quality
mammalian vulva	UBERON:0000997	99.78	gold quality
superior surface of tongue	UBERON:0007371	99.77	gold quality
cervix epithelium	UBERON:0004801	99.76	gold quality
epithelium of esophagus	UBERON:0001976	99.26	gold quality
cervix squamous epithelium	UBERON:0006922	99.25	gold quality
urethra	UBERON:0000057	99.19	gold quality
epithelium of nasopharynx	UBERON:0001951	99.06	gold quality
nasopharynx	UBERON:0001728	99.04	gold quality
amniotic fluid	UBERON:0000173	99.01	gold quality
periodontal ligament	UBERON:0008266	98.44	gold quality
mucosa of urinary bladder	UBERON:0001259	98.11	gold quality
vagina	UBERON:0000996	97.67	gold quality
urinary bladder	UBERON:0001255	96.56	gold quality
trachea	UBERON:0003126	95.07	gold quality
uterine cervix	UBERON:0000002	94.76	gold quality
esophagus	UBERON:0001043	93.55	gold quality
right coronary artery	UBERON:0001625	93.38	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	58363.56
E-ANND-2	yes	45693.36
E-CURD-114	yes	5919.54
E-MTAB-10596	no	1121.17
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1, NR1H4, RARA, STAT3

miRNA regulators (miRDB)

12 targeting KRT13, 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-5193	100.00	67.26	1744
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-6881-5P	98.16	67.38	665
HSA-MIR-1307-5P	72.89	61.08	5

Literature-anchored findings (GeneRIF, showing 28)

• exhibits a regular expression pattern in luminal epithelial cells of secretory phase human endometrium (PMID:11906920)
• Metaplastic squamous cells differentiate with a decrease of CK18 and an increase of CK13 expression. (PMID:16836912)
• CK13 positive staining occurs in cervical squamous tumors and in mucinous cervical type adenocarcinomas, while there was no positive staining in non-neoplastic cervical glandular elements (PMID:16949723)
• The different ligand regulations of KRT13 are due to ligand-differential recruitment of ER and coactivators. (PMID:18951949)
• CK13 expression is elevated in KB cells treated with all-trans retinoic acid or arsenic trioxide. (PMID:19489262)
• Expression was altered in oral lichen planus lesions (PMID:19776502)
• 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)
• Keratin 13 is a more specific marker of conjunctival epithelium than keratin 19. (PMID:21738394)
• Loss of K13 in oral carcinoma in situ is partly due to its gene repression, but may also be due to some unknown post-translational events. (PMID:22301701)
• Fluorescent keratin 13 integrates into the endogenous keratin cytoskeleton in human vulva carcinoma-derived A431 cells, thereby serving as a reliable marker of keratin dynamics. (PMID:23757496)
• Immunoexpression of CK13 and CK17 in light green-stained superficial cells was associated with more severe morphological atypia in tongue squamous cell carcinoma (PMID:24247036)
• keratin14 expression can be used to detect early epithelial dysplasia, and that keratin13 and keratin17 expression are useful for detecting neoplastic changes (PMID:24471966)
• The immunofluorescent staining pattern of Wnt1 and CK7 as well as Wnt1 and CK13 was consistent with IHC results. Thus, in pleomorphic adenoma, Wnt is involved in tumor cell differentiation of peripheral columnar cells forming solid nests (PMID:25076852)
• Our data provide mechanistic insights into the epigenetic silencing of KRT13 genes in OSCC cells and might be useful for the development of diagnostic markers and novel therapeutic approaches against OSCCs. (PMID:25527207)
• Low KRT13 mRNA expression is associated with oral squamous cell carcinoma. (PMID:25735388)
• Decreased KRT13 was associated with Esophageal Squamous Cell Carcinoma. (PMID:25851906)
• Loss of CK13 expression is associated with invasive oral squamous cell carcinoma. (PMID:26225699)
• Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). (PMID:27378695)
• KRT13 expression is associated with poor prognosis at multiple stages of disease progression (PMID:27711225)
• this study reports that KRT13 plays a directive role in prostate cancer bone, brain, and soft tissue metastases (PMID:27835867)
• Keratin 13 gene is epigenetically suppressed during TGFB1-induced epithelial-mesenchymal transition in a human keratinocyte cell line. (PMID:29326042)
• Oral white sponge nevus may manifest variable clinical features. The novel mutation found in the KRT13 gene is believed to add evidence for a mutational hotspot in the mucosal keratins (PMID:29476668)
• Enhanced KRT13 gene expression bestows radiation resistance in squamous cell carcinoma cells. (PMID:33537930)
• Combined loss of expression of involucrin and cytokeratin 13 is associated with poor prognosis in squamous cell carcinoma of mobile tongue. (PMID:34338386)
• KRT13 promotes stemness and drives metastasis in breast cancer through a plakoglobin/c-Myc signaling pathway. (PMID:35078507)
• Cytokeratin 13 (CK13) expression in cancer: a tissue microarray study on 10,439 tumors. (PMID:36269681)
• KRT13 is upregulated in pancreatic cancer stem-like cells and associated with radioresistance. (PMID:36610719)
• KRT13 and UPK1B for differential diagnosis between metastatic lung carcinoma from oral squamous cell carcinoma and lung squamous cell carcinoma. (PMID:38114532)

Cross-species orthologs

0 orthologs

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), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360)

Protein

Protein identifiers

Keratin, type I cytoskeletal 13 — P13646 (reviewed: P13646)

Alternative names: Cytokeratin-13, Keratin-13

All UniProt accessions (5): P13646, K7EMD9, K7EMJ2, K7EQH6, K7ERE3

UniProt curated annotations — full annotation on UniProt →

Function. Type 1 keratin. Maintains postnatal tongue mucosal cell homeostasis and tissue organization in response to mechanical stress, potentially via regulation of the G1/S phase cyclins CCNE1 and CCNE2.

Subunit / interactions. Heterotetramer of two type I and two type II keratins.

Tissue specificity. Expressed in some epidermal sweat gland ducts (at protein level) and in exocervix, esophagus and placenta.

Post-translational modifications. O-glycosylated; glycans consist of single N-acetylglucosamine residues.

Disease relevance. White sponge nevus 2 (WSN2) [MIM:615785] 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.

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.

Isoforms (3)

UniProt ID	Names	Canonical?
P13646-1	1, A	yes
P13646-2	2
P13646-3	3

RefSeq proteins (2): NP_002265, NP_705694* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002957	Keratin_I	Family
IPR018039	IF_conserved	Conserved_site
IPR039008	IF_rod_dom	Domain

Pfam: PF00038

UniProt features (31 total): sequence variant 12, region of interest 8, modified residue 3, splice variant 3, sequence conflict 2, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P13646-F1	75.47	0.54

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 (3): 27, 35, 427

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: 181 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_TRANSLATION_IN_RESPONSE_TO_STRESS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOZGIT_ESR1_TARGETS_DN, HUMMERICH_BENIGN_SKIN_TUMOR_UP, HUMMERICH_MALIGNANT_SKIN_TUMOR_UP, KYNG_DNA_DAMAGE_DN, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GGGTGGRR_PAX4_03, LEE_LIVER_CANCER_CIPROFIBRATE_DN, ONDER_CDH1_TARGETS_3_DN, RODRIGUES_NTN1_TARGETS_DN

GO Biological Process (5): morphogenesis of an epithelium (GO:0002009), cytoskeleton organization (GO:0007010), epithelial cell differentiation (GO:0030855), regulation of translation in response to stress (GO:0043555), intermediate filament organization (GO:0045109)

GO Molecular Function (3): structural constituent of skin epidermis (GO:0030280), structural molecule activity (GO:0005198), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), cytosol (GO:0005829), cytoskeleton (GO:0005856), keratin filament (GO:0045095), intermediate filament cytoskeleton (GO:0045111), extracellular exosome (GO:0070062), intermediate filament (GO:0005882)

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
epithelium development	2
tissue morphogenesis	1
organelle organization	1
cell differentiation	1
translation	1
regulation of translation	1
cellular response to stress	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
structural molecule activity	1
molecular_function	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cellular anatomical structure	1
intracellular membraneless organelle	1
intermediate filament	1
cytoskeleton	1
extracellular vesicle	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

1526 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT13	KRT4	P19013	808
KRT13	MMAA	Q8IVH4	633
KRT13	IVL	P07476	600
KRT13	MT1A	P04731	588
KRT13	H3BSS0	H3BSS0	584
KRT13	MT2A	P02795	557
KRT13	LIAT1	Q6ZQX7	520
KRT13	UPK1A	O00322	511
KRT13	DHFR2	Q86XF0	511
KRT13	SPRR3	Q9UBC9	489
KRT13	NGFR	P08138	451
KRT13	UPK3A	O75631	448
KRT13	DHFR	P00374	425
KRT13	MT4	P47944	424
KRT13	THRA	P10827	423

IntAct

120 interactions, top by confidence:

A	B	Type	Score
KRT6A	KRT13	psi-mi:“MI:0915”(physical association)	0.790
KRT13	KRT6A	psi-mi:“MI:0915”(physical association)	0.790
GFAP	KRT13	psi-mi:“MI:0915”(physical association)	0.720
HGS	KRT13	psi-mi:“MI:0915”(physical association)	0.720
KRT13	GFAP	psi-mi:“MI:0915”(physical association)	0.720
KRT2	KRT13	psi-mi:“MI:0915”(physical association)	0.670
KRT13	KRT2	psi-mi:“MI:0915”(physical association)	0.670
KRT4	KRT13	psi-mi:“MI:0915”(physical association)	0.670
KRT13	KRT4	psi-mi:“MI:0915”(physical association)	0.670
	KRT13	psi-mi:“MI:0915”(physical association)	0.560
HGS	KRT13	psi-mi:“MI:0915”(physical association)	0.560
NEFL	KRT13	psi-mi:“MI:0915”(physical association)	0.560
ZNF688	KRT13	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (143): KRT13 (Two-hybrid), KRT13 (Two-hybrid), KRT13 (Two-hybrid), KRT13 (Two-hybrid), KRT13 (Two-hybrid), KRT13 (Two-hybrid), KRT13 (Two-hybrid), KRT13 (Two-hybrid), KRT13 (Two-hybrid), MOS (Two-hybrid), MYH1 (Two-hybrid), PSMB1 (Two-hybrid), PSMB2 (Two-hybrid), TMSB4X (Two-hybrid), TSG101 (Two-hybrid)

ESM2 similar proteins: A1L317, A1L595, A5A6N2, A6BLY7, B1AQ75, E1AB55, O76013, P02533, P08730, P08779, P13646, P19012, Q0P5J4, Q0P5J6, Q0P5J7, Q148H5, Q148H6, Q148H8, Q2M2I5, Q3UV17, Q497I4, Q61414, Q61781, Q64291, Q6IFU7, Q6IFU8, Q6IFV1, Q6IFV3, Q6IFV4, Q6IFW6, Q6IFW8, Q6IFX0, Q6IFX1, Q6IFX2, Q6NXH9, Q6R649, Q6R650, Q7Z3Y7, Q7Z3Y8, Q7Z3Y9

Diamond homologs: A1KQY9, A1L317, A1L595, A5A6M0, A5A6M5, A5A6N2, A5A6P3, A6BLY7, A6QQQ9, A7YWM2, B0LKP1, B1AQ75, O57607, O57611, O76009, O76013, O77727, O93256, P02533, P02534, P02535, P02537, P05781, P05783, P05784, P06394, P08727, P08728, P08730, P08777, P08778, P08779, P08802, P13645, P13646, P19001, P19012, P25030, P25690, P35527

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 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
GSK3B-mediated proteasomal degradation of PD-L1(CD274)	5	24.3×	2e-04
Regulation of RUNX2 expression and activity	5	18.5×	4e-04
Formation of the cornified envelope	10	17.9×	5e-08
Degradation of beta-catenin by the destruction complex	5	17.7×	4e-04
Macroautophagy	6	14.1×	2e-04
KEAP1-NFE2L2 pathway	5	12.3×	1e-03
Keratinization	10	11.4×	1e-06
Neddylation	11	10.6×	8e-07

GO biological processes:

GO term	Partners	Fold	FDR
intermediate filament organization	13	50.5×	1e-16
keratinization	9	34.0×	1e-09
mitophagy	6	30.8×	4e-06
intrinsic apoptotic signaling pathway	5	28.9×	7e-05
autophagosome maturation	5	28.3×	7e-05
autophagosome assembly	5	18.1×	5e-04
G1/S transition of mitotic cell cycle	5	16.2×	7e-04
proteasome-mediated ubiquitin-dependent protein catabolic process	8	6.7×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	74
Likely benign	14
Benign	47

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
14629	NM_153490.3(KRT13):c.356T>C (p.Leu119Pro)	Pathogenic
66751	NM_153490.3(KRT13):c.332T>C (p.Leu111Pro)	Pathogenic

SpliceAI

817 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41501442:CAAA:C	donor_gain	1.0000
17:41501545:A:T	acceptor_gain	1.0000
17:41502372:A:AC	donor_gain	1.0000
17:41502373:C:CA	donor_gain	1.0000
17:41502373:CT:C	donor_gain	1.0000
17:41502373:CTTG:C	donor_gain	1.0000
17:41502373:CTTGG:C	donor_gain	1.0000
17:41502380:T:TA	donor_gain	1.0000
17:41502591:CTTT:C	acceptor_gain	1.0000
17:41502592:TTT:T	acceptor_gain	1.0000
17:41502592:TTTC:T	acceptor_loss	1.0000
17:41502593:TT:T	acceptor_gain	1.0000
17:41502594:TC:T	acceptor_loss	1.0000
17:41502595:C:CC	acceptor_gain	1.0000
17:41502595:CTG:C	acceptor_loss	1.0000
17:41502596:T:A	acceptor_loss	1.0000
17:41502598:G:C	acceptor_gain	1.0000
17:41502598:G:GC	acceptor_gain	1.0000
17:41502681:GCATA:G	donor_loss	1.0000
17:41502682:CATAC:C	donor_loss	1.0000
17:41502683:ATAC:A	donor_loss	1.0000
17:41502684:TACCA:T	donor_loss	1.0000
17:41502685:A:AC	donor_gain	1.0000
17:41502685:A:AG	donor_loss	1.0000
17:41502686:C:CA	donor_loss	1.0000
17:41502686:C:CC	donor_gain	1.0000
17:41502686:CCATG:C	donor_gain	1.0000
17:41502695:G:C	donor_gain	1.0000
17:41502808:GCACT:G	acceptor_gain	1.0000
17:41502809:CACT:C	acceptor_gain	1.0000

AlphaMissense

2992 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41502395:A:G	L408P	0.999
17:41502425:A:G	L398P	0.999
17:41502433:C:A	K395N	0.999
17:41502433:C:G	K395N	0.999
17:41502706:A:G	L335P	0.999
17:41505219:A:G	L111P	0.999
17:41502401:C:G	R406P	0.998
17:41502405:A:G	Y405H	0.998
17:41502413:A:C	I402S	0.998
17:41502446:A:G	L391P	0.998
17:41502497:A:G	L374P	0.998
17:41502701:A:G	S337P	0.998
17:41503662:C:G	A187P	0.998
17:41503674:C:G	A183P	0.998
17:41505207:A:G	L115P	0.998
17:41505207:A:T	L115Q	0.998
17:41505210:C:G	R114P	0.998
17:41505219:A:T	L111H	0.998
17:41502416:T:A	E401V	0.997
17:41502435:T:C	K395E	0.997
17:41502539:A:G	L360P	0.997
17:41502739:A:G	L324P	0.997
17:41502960:C:G	A292P	0.997
17:41503667:A:G	L185P	0.997
17:41505144:A:G	I136T	0.997
17:41505156:A:G	L132P	0.997
17:41505169:C:G	A128P	0.997
17:41505216:T:A	N112I	0.997
17:41502411:C:G	A403P	0.996
17:41502416:T:C	E401G	0.996

dbSNP variants (sampled 300 via entrez): RS1000713635 (17:41503082 C>T), RS1001147301 (17:41501071 G>A), RS1001281477 (17:41500498 A>G), RS1001378 (17:41506787 A>C,G,T), RS1001394879 (17:41505358 A>G), RS1002430790 (17:41506181 T>A), RS1002716985 (17:41507271 A>G), RS1002881454 (17:41502302 A>G), RS1002891924 (17:41506488 T>A), RS1003159073 (17:41503178 G>A,T), RS1003179158 (17:41507469 A>G), RS1003570878 (17:41501245 G>A), RS1004246780 (17:41506419 A>G,T), RS1004361198 (17:41506182 C>G), RS1004579794 (17:41501001 A>T)

Disease associations

OMIM: gene MIM:148065 | disease phenotypes: MIM:615785

GenCC curated gene-disease

Disease	Classification	Inheritance
white sponge nevus 2	Strong	Autosomal dominant
hereditary mucosal leukokeratosis	Supportive	Autosomal dominant

Mondo (2): white sponge nevus 2 (MONDO:0014346), hereditary mucosal leukokeratosis (MONDO:0015748)

Orphanet (0):

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000969	Edema
HP:0025092	Epidermal acanthosis
HP:0040009	Hyperparakeratosis

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: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, decreases methylation, increases expression	5
Tobacco Smoke Pollution	affects expression, decreases expression	5
bisphenol A	increases methylation, decreases expression	3
Estradiol	decreases reaction, increases expression, affects expression, increases reaction	3
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
Smoke	decreases expression, increases abundance, increases expression	2
Tretinoin	decreases expression, increases expression	2
Copper Sulfate	decreases expression, increases expression	2
glycidyl methacrylate	decreases expression	1
withaferin A	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression, increases expression	1
2,3-pentanedione	increases expression	1
afimoxifene	affects cotreatment, increases expression, decreases reaction	1
tobacco tar	decreases expression	1
hydroquinone	decreases expression	1
ethyl-p-((E)-2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthyl)-1-propenyl)benzoic acid	decreases expression	1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid	decreases expression	1
4-((3-bromophenyl)amino)-6,7-dimethoxyquinazoline	decreases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression	1
tricetin	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
(+)-JQ1 compound	increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	decreases reaction, increases expression	1
Troglitazone	affects cotreatment, decreases expression	1
Aerosols	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Cycloheximide	affects cotreatment, increases expression	1
Diethylnitrosamine	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1CB	Abcam A-431 KRT13 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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