KRT15

Summary

KRT15 (keratin 15, HGNC:6421) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cytoskeletal 15 (P19012).

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 and are clustered in a region on chromosome 17q21.2.

Source: NCBI Gene 3866 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_002275

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6421
Approved symbol	KRT15
Name	keratin 15
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	K15, CK15, K1CO
Ensembl gene	ENSG00000171346
Ensembl biotype	protein_coding
OMIM	148030
Entrez	3866

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000254043, ENST00000393974, ENST00000393976, ENST00000458290, ENST00000463447, ENST00000470004, ENST00000474031, ENST00000497016, ENST00000586794

RefSeq mRNA: 1 — MANE Select: NM_002275 NM_002275

CCDS: CCDS11398

Canonical transcript exons

ENST00000254043 — 8 exons

Exon	Start	End
ENSE00001717530	41514649	41514674
ENSE00001813950	41513745	41514120
ENSE00001849719	41518330	41518890
ENSE00002409575	41515472	41515692
ENSE00003460838	41517083	41517165
ENSE00003540769	41516808	41516964
ENSE00003614792	41515885	41516010
ENSE00003672368	41516104	41516265

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 99.78.

FANTOM5 (CAGE): breadth broad, TPM avg 12.9586 / max 2660.3601, expressed in 378 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165950	12.3847	230
165954	0.3343	172
165957	0.0838	36
165955	0.0590	23
165949	0.0513	26
165948	0.0311	15
165956	0.0143	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.78	gold quality
tongue squamous epithelium	UBERON:0006919	99.77	gold quality
pharyngeal mucosa	UBERON:0000355	99.65	gold quality
upper leg skin	UBERON:0004262	99.59	gold quality
upper arm skin	UBERON:0004263	99.57	gold quality
skin of abdomen	UBERON:0001416	99.45	gold quality
epithelium of nasopharynx	UBERON:0001951	99.43	gold quality
nasopharynx	UBERON:0001728	99.41	gold quality
gingiva	UBERON:0001828	99.40	gold quality
esophagus mucosa	UBERON:0002469	99.35	gold quality
esophagus squamous epithelium	UBERON:0006920	99.34	gold quality
gingival epithelium	UBERON:0001949	99.33	gold quality
squamous epithelium	UBERON:0006914	99.32	gold quality
cervix epithelium	UBERON:0004801	99.29	gold quality
mammalian vulva	UBERON:0000997	99.27	gold quality
skin of hip	UBERON:0001554	99.26	gold quality
zone of skin	UBERON:0000014	99.25	gold quality
nipple	UBERON:0002030	99.24	gold quality
skin of leg	UBERON:0001511	99.22	gold quality
cervix squamous epithelium	UBERON:0006922	99.04	gold quality
oral cavity	UBERON:0000167	99.00	gold quality
hair follicle	UBERON:0002073	98.88	gold quality
epithelium of mammary gland	UBERON:0003244	98.82	gold quality
mammary duct	UBERON:0001765	98.78	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.72	gold quality
penis	UBERON:0000989	98.70	gold quality
epithelium of esophagus	UBERON:0001976	98.70	gold quality
body of tongue	UBERON:0011876	98.69	gold quality
trachea	UBERON:0003126	98.28	gold quality
urethra	UBERON:0000057	97.44	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	9065.65
E-CURD-114	yes	4505.91
E-ANND-2	yes	3581.63
E-MTAB-8221	yes	3472.24
E-MTAB-10885	yes	2123.13
E-MTAB-8142	yes	2012.32
E-MTAB-9841	yes	1491.41
E-MTAB-10855	yes	1219.89
E-GEOD-130148	yes	5.40
E-ENAD-21	no	1892.95
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, CEBPB, ESR1, FOXM1, JUN, NFKB, PRL, TP53

miRNA regulators (miRDB)

23 targeting KRT15, 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-548AW	99.99	72.57	3559
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-6779-3P	97.51	65.82	789
HSA-MIR-7976	95.75	65.67	1186
HSA-MIR-4515	95.70	65.73	716
HSA-MIR-4693-3P	95.23	65.92	735

Literature-anchored findings (GeneRIF, showing 23)

• Results identify the regulators of keratin 15 promoter activity and their binding sites. (PMID:15060141)
• Cytokeratin 15 expression pattern is useful in terms of distinguishing trichoepithelioma from basal cell carcinoma. (PMID:18789069)
• marker of the hair follicle stem cells; diminished during scarring in alopecia and discoid lupus erythematosus (PMID:19162247)
• Identification of a subset of breast carcinomas characterized by expression of CK15: relationship between CK15+ progenitor/amplified cells and pre-malignant lesions and invasive disease is reported. (PMID:19383306)
• KRT15 is a Gli1-responsive gene in human skin keratinocytes (PMID:20050020)
• KRT15 mRNA is selectively expressed in human hair follicle stem cells, while KRT15 protein is not. (PMID:20050020)
• Physiological concentrations of thyroid hormones T3 and T4 enhance keratin 15 promoter activity and expression in epithelial stem cells of adult human scalp hair follicles in situ and in vitro. (PMID:20656376)
• Report expression of stem-cell markers cytokeratin 15 and nestin in primary adnexal neoplasms. (PMID:20700038)
• CK15 highlights BZ cells in normal human follicles (PMID:21251039)
• Stromal expression of KRT15, TCN1, and HOXB13 was significantly correlated with tumor grade, stromal hypercellularity, mitotic activity and microscopic borders. (PMID:21574054)
• both expanded limbal NCs and HUVEC rejoined with LEPC to form spheres to upregulate expression of DeltaNp63alpha, CK15, and CEBPdelta, the former but not the latter abolished expression of CK12 keratin. (PMID:22538425)
• K15 is expressed variably in both oral squamous cell carcinoma and squamous intraepithelial neoplasm (PMID:22648550)
• BerEP4 differentiates between microcystic adnexal carcinoma and morpheaform basal cell carcinoma. (PMID:23398472)
• Cytokeratin 15 is upregulated in a subset of urothelial cell carcinomas. (PMID:24260555)
• Underexpression of CK15 is associated with Esophageal Squamous Cell Carcinomas. (PMID:27797221)
• The protein CK15 can be used for the differential diagnosis between high-grade dysplasia and oral epithelial malignancy at the stage of carcinoma in situ and squamous cell carcinoma. (PMID:31626202)
• Potential regulatory SNPs in the ATXN7L3B and KRT15 genes are associated with gender-specific colorectal cancer risk. (PMID:31797724)
• KRT15 overexpression predicts poor prognosis in colorectal cancer. (PMID:31884802)
• KRT 15 as a prognostic biomarker is highly expressed in esophageal carcinoma. (PMID:32449621)
• KRT15 promotes colorectal cancer cell migration and invasion through beta-catenin/MMP-7 signaling pathway. (PMID:35477819)
• Upregulated keratin 15 links to the occurrence of lymphovascular invasion, stromal cervical invasion as well as unfavorable survival profile in endometrial cancer patients. (PMID:35866777)
• Tumor keratin 15 expression links with less extent of invasion and better prognosis in papillary thyroid cancer patients receiving tumor resection. (PMID:37243844)
• Upregulation of keratin 15 is required for varicella-zoster virus replication in keratinocytes and is attenuated in the live attenuated vOka vaccine strain. (PMID:39385182)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krt15	ENSMUSG00000054146
rattus_norvegicus	Krt15	ENSRNOG00000071325

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), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)

Protein

Protein identifiers

Keratin, type I cytoskeletal 15 — P19012 (reviewed: P19012)

Alternative names: Cytokeratin-15, Keratin-15

All UniProt accessions (5): A8MT21, C9JTG5, P19012, K7EMX0, K7EQK9

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Heterotetramer of two type I and two type II keratins. Forms a heterodimer with KRT14. Interacts with PLEC isoform 1C, when in a heterodimer with KRT14. Interacts with NOD2.

Tissue specificity. Expressed in a discontinuous manner in the basal cell layer of adult skin epidermis, but continuously in the basal layer of fetal skin epidermis and nail. Also expressed in the outer root sheath above the hair bulb in hair follicle (at protein level). Expressed homogeneously in all cell layers of the esophagus and exocervix, but detected in the basal cell layer only of oral mucosa, skin and in the basal plus the next two layers of the suprabasal epithelium of the palate.

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 (2)

UniProt ID	Names	Canonical?
P19012-1	1	yes
P19012-2	2

RefSeq proteins (1): NP_002266* (*=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 (23 total): modified residue 7, region of interest 7, splice variant 3, sequence variant 3, chain 1, domain 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P19012-F1	77.08	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 (8): 34, 36, 48, 56, 301, 323, 300, 17

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-9725554	Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
R-HSA-1266738	Developmental Biology
R-HSA-9734767	Developmental Cell Lineages

MSigDB gene sets: 165 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, MYOGENIN_Q6, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, JAEGER_METASTASIS_DN, CHANDRAN_METASTASIS_DN, ONDER_CDH1_TARGETS_3_DN, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GATA6_01, MODULE_298, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN, TGANTCA_AP1_C

GO Biological Process (4): morphogenesis of an epithelium (GO:0002009), epidermis development (GO:0008544), epithelial cell differentiation (GO:0030855), intermediate filament organization (GO:0045109)

GO Molecular Function (5): structural constituent of cytoskeleton (GO:0005200), structural constituent of skin epidermis (GO:0030280), scaffold protein binding (GO:0097110), structural molecule activity (GO:0005198), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), cytosol (GO:0005829), cytoskeleton (GO:0005856), intermediate filament (GO:0005882), keratin filament (GO:0045095), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Developmental Biology	2
Keratinization	1
Developmental Cell Lineages of the Integumentary System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
epithelium development	2
structural molecule activity	2
tissue morphogenesis	1
tissue development	1
cell differentiation	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
cytoskeleton	1
cytoskeleton organization	1
protein binding	1
molecular_function	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cellular anatomical structure	1
intracellular membraneless organelle	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
intermediate filament	1
extracellular vesicle	1

Protein interactions and networks

STRING

1884 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT15	LRIG1	Q96JA1	627
KRT15	LGR6	Q9HBX8	615
KRT15	CD34	P28906	570
KRT15	LGR5	O75473	520
KRT15	ITGA6	P23229	510
KRT15	CD200	P41217	506
KRT15	DHFR2	Q86XF0	494
KRT15	ABCB5	Q2M3G0	486
KRT15	LORICRIN	P23490	485
KRT15	SOX9	P48436	484
KRT15	LHX2	P50458	475
KRT15	PLET1	Q6UQ28	445
KRT15	CCL20	P78556	431
KRT15	H3BSS0	H3BSS0	423
KRT15	DHFR	P00374	423
KRT15	ABCG2	Q9UNQ0	423

IntAct

619 interactions, top by confidence:

A	B	Type	Score
KRT15	KRT6A	psi-mi:“MI:0915”(physical association)	0.930
PRPF31	KRT15	psi-mi:“MI:0915”(physical association)	0.810
KRT15	GFAP	psi-mi:“MI:0915”(physical association)	0.810
GFAP	KRT15	psi-mi:“MI:0915”(physical association)	0.810
KRT15	PRPF31	psi-mi:“MI:0915”(physical association)	0.810
KRT86	KRT15	psi-mi:“MI:0915”(physical association)	0.780
KRT15	RAD51D	psi-mi:“MI:0915”(physical association)	0.780
KRT6B	KRT15	psi-mi:“MI:0915”(physical association)	0.780
PSMB1	KRT15	psi-mi:“MI:0915”(physical association)	0.780
KRT79	KRT15	psi-mi:“MI:0915”(physical association)	0.780
KRT15	SGF29	psi-mi:“MI:0915”(physical association)	0.780
KRT15	KRT6B	psi-mi:“MI:0915”(physical association)	0.780
KRT15	KRT79	psi-mi:“MI:0915”(physical association)	0.780
SGF29	KRT15	psi-mi:“MI:0915”(physical association)	0.780
KRT15	KRT86	psi-mi:“MI:0915”(physical association)	0.780
RAD51D	KRT15	psi-mi:“MI:0915”(physical association)	0.780
KANSL1	KRT15	psi-mi:“MI:0915”(physical association)	0.740
KRT20	KRT15	psi-mi:“MI:0915”(physical association)	0.740
KRT15	TCHP	psi-mi:“MI:0915”(physical association)	0.740
KRT15	ABI2	psi-mi:“MI:0915”(physical association)	0.740
KRT15	KRT20	psi-mi:“MI:0915”(physical association)	0.740

BioGRID (280): KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT15 (Two-hybrid), KRT86 (Two-hybrid), LMO2 (Two-hybrid), MOS (Two-hybrid)

ESM2 similar proteins: A1KQY9, A1L595, A5A6M0, A6QQQ9, O57607, O57611, O77727, O93256, P02533, P05781, P05783, P05784, P05786, P05787, P08727, P08728, P08730, P08776, P08777, P08778, P08802, P11679, P19001, P19012, P25030, P35900, P51856, Q04695, Q07427, Q10758, Q5BJY9, Q5K2N3, Q5K2N9, Q5K2P6, Q5R8S9, Q61414, Q63279, Q6IFU7, Q6IFU8, Q6IFV1

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

1 interactions.

A	Effect	B	Mechanism
PRL	“up-regulates quantity by expression”	KRT15	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 80 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	13	20.8×	1e-11
Keratinization	13	13.2×	2e-09

GO biological processes:

GO term	Partners	Fold	FDR
intermediate filament organization	14	46.2×	1e-17
keratinization	11	35.3×	2e-12
regulation of cell migration	5	10.8×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1139 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41515470:A:AC	donor_gain	1.0000
17:41515471:C:CC	donor_gain	1.0000
17:41515471:CTTGG:C	donor_gain	1.0000
17:41515478:T:TA	donor_gain	1.0000
17:41515689:CTTT:C	acceptor_gain	1.0000
17:41515879:CCGTA:C	donor_loss	1.0000
17:41515880:CGTAC:C	donor_loss	1.0000
17:41515881:GTACC:G	donor_loss	1.0000
17:41515882:TACC:T	donor_loss	1.0000
17:41515883:A:AC	donor_gain	1.0000
17:41515884:C:CC	donor_gain	1.0000
17:41515884:CCATG:C	donor_gain	1.0000
17:41515893:G:C	donor_gain	1.0000
17:41516007:CAGT:C	acceptor_gain	1.0000
17:41516008:AGT:A	acceptor_gain	1.0000
17:41516009:GT:G	acceptor_gain	1.0000
17:41516010:TC:T	acceptor_loss	1.0000
17:41516011:C:CC	acceptor_gain	1.0000
17:41516011:C:CG	acceptor_loss	1.0000
17:41516012:T:G	acceptor_loss	1.0000
17:41516102:A:AT	donor_loss	1.0000
17:41516103:CCTTG:C	donor_gain	1.0000
17:41516261:ATCTC:A	acceptor_gain	1.0000
17:41516263:CTC:C	acceptor_gain	1.0000
17:41516264:TC:T	acceptor_gain	1.0000
17:41516265:CC:C	acceptor_gain	1.0000
17:41516266:C:CC	acceptor_gain	1.0000
17:41516267:T:A	acceptor_loss	1.0000
17:41516284:CCACT:C	acceptor_gain	1.0000
17:41516285:CACT:C	acceptor_gain	1.0000

AlphaMissense

2977 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41518493:A:G	L112P	0.993
17:41518484:C:G	R115P	0.992
17:41516890:A:G	L219P	0.990
17:41515523:A:G	L399P	0.989
17:41515595:A:G	L375P	0.989
17:41515937:A:G	L325P	0.989
17:41516135:C:G	R290P	0.989
17:41518443:C:G	A129P	0.989
17:41518481:A:G	L116P	0.989
17:41515493:A:G	L409P	0.988
17:41516000:A:G	L304P	0.988
17:41515499:C:G	R407P	0.987
17:41517114:C:G	A184P	0.987
17:41515904:A:G	L336P	0.986
17:41516113:G:C	F297L	0.986
17:41516113:G:T	F297L	0.986
17:41516115:A:G	F297L	0.986
17:41515531:C:A	K396N	0.985
17:41515531:C:G	K396N	0.985
17:41515892:A:G	L340P	0.985
17:41518493:A:T	L112H	0.985
17:41516148:C:G	A286P	0.984
17:41515503:A:G	Y406H	0.983
17:41518418:A:G	I137T	0.983
17:41518481:A:T	L116Q	0.983
17:41515511:A:C	I403S	0.982
17:41516827:A:G	L240P	0.982
17:41517102:C:G	A188P	0.982
17:41518451:A:G	L126P	0.982
17:41515544:A:G	L392P	0.981

dbSNP variants (sampled 300 via entrez): RS1000884343 (17:41520413 G>A), RS1000936445 (17:41520292 T>C), RS1001482736 (17:41518767 C>A,T), RS1002090733 (17:41514430 T>C), RS1002172447 (17:41516903 C>T), RS1002524735 (17:41516585 G>A), RS1004518485 (17:41517748 T>A,C), RS1005502856 (17:41519115 T>C), RS1005540429 (17:41518058 C>A,G), RS1005594241 (17:41517839 T>C), RS1005880261 (17:41516653 C>T), RS1005929574 (17:41516451 C>A,T), RS1006401583 (17:41513415 C>T), RS1007262821 (17:41515390 A>C,G), RS1007791412 (17:41520875 C>T)

Disease associations

OMIM: gene MIM:148030 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, affects cotreatment, increases expression, decreases methylation	6
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression, affects binding (+1 more)	5
Tobacco Smoke Pollution	decreases expression, affects expression	5
Estradiol	affects expression, affects cotreatment, decreases expression, increases reaction	4
Aflatoxin B1	affects expression, increases expression	4
Particulate Matter	decreases expression, increases abundance	3
dimethylarsinous acid	decreases expression	2
Resveratrol	decreases expression, increases expression, affects cotreatment	2
Arsenic	affects cotreatment, decreases expression, increases abundance	2
Copper	affects cotreatment, decreases expression	2
Nickel	decreases expression	2
Tretinoin	increases expression	2
Cyclosporine	increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, increases expression	1
4-oxoretinoic acid	increases expression	1
chloroacetaldehyde	increases expression	1
bisphenol A	increases expression, decreases expression	1
lead acetate	decreases expression	1
methylselenic acid	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
beta-lapachone	increases expression	1
arsenite	increases expression	1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	affects cotreatment, increases expression	1
butyraldehyde	increases expression	1
tobacco tar	decreases 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_B1CD	Abcam A-431 KRT15 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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