KRT6C
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Summary
KRT6C (keratin 6C, HGNC:20406) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 6C (P48668).
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13.
Source: NCBI Gene 286887 — RefSeq curated summary.
At a glance
- Gene–disease (curated): palmoplantar keratoderma, nonepidermolytic, focal or diffuse (Strong, GenCC)
- Clinical variants (ClinVar): 207 total — 2 pathogenic
- Phenotypes (HPO): 5
- MANE Select transcript:
NM_173086
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20406 |
| Approved symbol | KRT6C |
| Name | keratin 6C |
| Location | 12q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000170465 |
| Ensembl biotype | protein_coding |
| OMIM | 612315 |
| Entrez | 286887 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron
ENST00000252250, ENST00000553087
RefSeq mRNA: 1 — MANE Select: NM_173086
NM_173086
CCDS: CCDS8829
Canonical transcript exons
ENST00000252250 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001622305 | 52470505 | 52470630 |
| ENSE00001634217 | 52472066 | 52472280 |
| ENSE00001638894 | 52473198 | 52473805 |
| ENSE00001640411 | 52469411 | 52469445 |
| ENSE00001666252 | 52471672 | 52471732 |
| ENSE00001688202 | 52471132 | 52471296 |
| ENSE00001780729 | 52471421 | 52471516 |
| ENSE00001789345 | 52469670 | 52469890 |
| ENSE00002381869 | 52468516 | 52469297 |
Expression profiles
Bgee: expression breadth broad, 100 present calls, max score 97.87.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 7.2282 / max 2849.9052, expressed in 80 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131038 | 7.1496 | 75 |
| 131039 | 0.0786 | 30 |
Top tissues by expression
128 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| esophagus mucosa | UBERON:0002469 | 97.87 | gold quality |
| cerebellar vermis | UBERON:0004720 | 97.41 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.53 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.41 | gold quality |
| thymus | UBERON:0002370 | 91.12 | gold quality |
| vagina | UBERON:0000996 | 83.62 | gold quality |
| esophagus | UBERON:0001043 | 73.04 | gold quality |
| skin of abdomen | UBERON:0001416 | 70.04 | gold quality |
| ectocervix | UBERON:0012249 | 66.47 | gold quality |
| zone of skin | UBERON:0000014 | 65.88 | gold quality |
| vastus lateralis | UBERON:0001379 | 64.98 | gold quality |
| tonsil | UBERON:0002372 | 64.24 | gold quality |
| skin of leg | UBERON:0001511 | 63.57 | gold quality |
| minor salivary gland | UBERON:0001830 | 62.69 | gold quality |
| uterine cervix | UBERON:0000002 | 61.96 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 60.06 | gold quality |
| sural nerve | UBERON:0015488 | 56.30 | silver quality |
| right coronary artery | UBERON:0001625 | 55.09 | gold quality |
| endocervix | UBERON:0000458 | 49.62 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 48.09 | gold quality |
| left uterine tube | UBERON:0001303 | 47.23 | gold quality |
| right uterine tube | UBERON:0001302 | 46.53 | gold quality |
| body of pancreas | UBERON:0001150 | 46.07 | gold quality |
| fundus of stomach | UBERON:0001160 | 45.87 | gold quality |
| lower esophagus | UBERON:0013473 | 45.50 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 45.23 | gold quality |
| right lobe of liver | UBERON:0001114 | 44.78 | silver quality |
| left adrenal gland cortex | UBERON:0035825 | 44.73 | gold quality |
| body of stomach | UBERON:0001161 | 44.57 | gold quality |
| left adrenal gland | UBERON:0001234 | 44.52 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 3097.34 |
| E-MTAB-8142 | yes | 1267.93 |
| E-GEOD-86618 | yes | 9.57 |
| E-MTAB-10596 | no | 5900.06 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting KRT6C, 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-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| 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-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-12117 | 99.50 | 67.57 | 868 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-4273 | 99.45 | 67.93 | 1206 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-31-5P | 98.58 | 68.35 | 1239 |
| HSA-MIR-5581-3P | 98.55 | 70.31 | 1161 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-12120 | 98.05 | 68.44 | 1768 |
| HSA-MIR-4443 | 98.02 | 66.25 | 1928 |
Literature-anchored findings (GeneRIF, showing 6)
- Keratin K6c mutations cause focal palmoplantar keratoderma (PMID:19609311)
- KRT6C mutations may have a role in focal palmoplantar keratoderma [commentary] (PMID:20081885)
- mutation c.1414G>A resulting in an p.Glu472Lys substitution associated with focal plantar keratoderma (PMID:23662636)
- report on a novel mutation of KRT6C and highlight the inclusion of focal PPK secondary to KRT16 and KRT6C mutations as a milder phenotype within the spectrum of PC (PMID:26301947)
- Several missense polymorphisms in KRT6A, KRT6B and KRT6C that lead to a higher risk for dental caries. (PMID:29357356)
- KRT6C was highly expressed in lung adenocarcinoma (LUAD) patients. The relevance between high expression of KRT6C and poor prognosis of LUAD patients was found in this study. (PMID:31768767)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Krt6b | ENSMUSG00000023041 |
| mus_musculus | Krt6a | ENSMUSG00000058354 |
| mus_musculus | Gm5414 | ENSMUSG00000064232 |
| rattus_norvegicus | AABR07001416.1 | ENSRNOG00000059050 |
| rattus_norvegicus | LOC102553726 | ENSRNOG00000067545 |
| rattus_norvegicus | LOC100365213 | ENSRNOG00000068586 |
| rattus_norvegicus | LOC120093742 | ENSRNOG00000068784 |
| rattus_norvegicus | Krt6c | ENSRNOG00000070470 |
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), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)
Protein
Protein identifiers
Keratin, type II cytoskeletal 6C — P48668 (reviewed: P48668)
Alternative names: Cytokeratin-6C, Cytokeratin-6E, Keratin K6h, Keratin-6C, Type-II keratin Kb12
All UniProt accessions (1): P48668
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17.
Tissue specificity. Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.
Disease relevance. Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735] A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. There are at least six isoforms of human type II keratin-6 (K6). There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).
Similarity. Belongs to the intermediate filament family.
RefSeq proteins (1): NP_775109* (*=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 (30 total): sequence conflict 10, region of interest 8, sequence variant 5, modified residue 2, initiator methionine 1, chain 1, compositionally biased region 1, site 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P48668-F1 | 69.63 | 0.40 |
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): 414 (stutter)
Post-translational modifications (2): 2, 60
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: 59 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GU_PDEF_TARGETS_DN, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GCM_PRKCG, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GCM_RING1, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_KERATINIZATION, GOBP_SKIN_DEVELOPMENT, GCM_LTK, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, GCM_FANCC
GO Biological Process (3): keratinization (GO:0031424), intermediate filament cytoskeleton organization (GO:0045104), intermediate filament organization (GO:0045109)
GO Molecular Function (2): structural constituent of skin epidermis (GO:0030280), protein binding (GO:0005515)
GO Cellular Component (4): cytosol (GO:0005829), intermediate filament (GO:0005882), keratin filament (GO:0045095), extracellular exosome (GO:0070062)
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 |
|---|---|
| keratinocyte differentiation | 1 |
| multicellular organismal process | 1 |
| cytoskeleton organization | 1 |
| intermediate filament-based process | 1 |
| intermediate filament cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| structural molecule activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| intermediate filament cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| intermediate filament | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
118 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HIF1AN | APBA3 | psi-mi:“MI:0914”(association) | 0.850 |
| KRT6C | KRT38 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT31 | KRT6C | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT6C | KRT40 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT6C | TRIM54 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT38 | KRT6C | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT40 | KRT6C | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT6C | KRT31 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KRT18 | KRT6C | psi-mi:“MI:0915”(physical association) | 0.680 |
| KRT6C | KRT13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT15 | KRT6C | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | KRT6C | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIFC3 | KRT6C | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT6C | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT13 | KRT6C | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT6C | KRT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT6C | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (99): KRT6C (Two-hybrid), KRT6C (Two-hybrid), KRT6C (Two-hybrid), KRT6C (Two-hybrid), KRT6C (Two-hybrid), KRT6C (Two-hybrid), KRT6C (Two-hybrid), KRT6C (Two-hybrid), KRT6C (Two-hybrid), KRT6C (Affinity Capture-MS), KRT6C (Affinity Capture-MS), KRT6C (Affinity Capture-MS), KRT6C (Affinity Capture-MS), KRT6C (Two-hybrid), KRT6C (Affinity Capture-MS)
ESM2 similar proteins: A5A6M6, A5A6M8, O95678, P02535, P02537, P02538, P04104, P04259, P04264, P06394, P07744, P08776, P12035, P13645, P13647, P16878, P18520, P19013, P35527, P35908, P48668, P50446, Q01546, Q08D91, Q148H7, Q29426, Q2M2I5, Q3TTY5, Q3UV17, Q4FZU2, Q5XQN5, Q6EIY9, Q6EIZ0, Q6EIZ1, Q6IFW6, Q6IFZ6, Q6IG00, Q6IG01, Q6IG02, Q6IG05
Diamond homologs: A0A8C0N8E3, A5A6M8, A5A6N0, A6QQJ3, B4F721, O62654, O77788, O93532, O95678, P02538, P02540, P02541, P02542, P02543, P02544, P02547, P02548, P03995, P04259, P05786, P05787, P07196, P07197, P08551, P08552, P08553, P08670, P08729, P08776, P09654, P11679, P12035, P12036, P12839, P13647, P14136, P15331, P16053, P16878, P16884
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 70 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 | 19 | 31.5× | 6e-22 |
| Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin | 5 | 26.3× | 7e-05 |
| Keratinization | 18 | 18.9× | 8e-17 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| morphogenesis of an epithelium | 17 | 90.0× | 3e-27 |
| intermediate filament organization | 18 | 66.7× | 1e-26 |
| epithelial cell differentiation | 15 | 40.5× | 2e-18 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
207 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 114 |
| Likely benign | 42 |
| Benign | 34 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 126525 | NM_173086.5(KRT6C):c.510CAA[2] (p.Asn172del) | Pathogenic |
| 66966 | NM_173086.5(KRT6C):c.1384_1410del (p.Ile462_Glu470del) | Pathogenic |
SpliceAI
595 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:52469405:ACTT:A | donor_loss | 1.0000 |
| 12:52469408:TACA:T | donor_loss | 1.0000 |
| 12:52469409:A:AC | donor_gain | 1.0000 |
| 12:52469409:ACAG:A | donor_loss | 1.0000 |
| 12:52469410:C:CT | donor_gain | 1.0000 |
| 12:52469410:CAG:C | donor_gain | 1.0000 |
| 12:52469410:CAGA:C | donor_gain | 1.0000 |
| 12:52469444:GCCT:G | acceptor_loss | 1.0000 |
| 12:52469445:CCTGT:C | acceptor_loss | 1.0000 |
| 12:52469446:C:CA | acceptor_loss | 1.0000 |
| 12:52469446:C:CC | acceptor_gain | 1.0000 |
| 12:52469447:T:A | acceptor_loss | 1.0000 |
| 12:52469666:CTA:C | donor_loss | 1.0000 |
| 12:52469668:A:AC | donor_gain | 1.0000 |
| 12:52469669:C:CC | donor_gain | 1.0000 |
| 12:52469669:C:CT | donor_loss | 1.0000 |
| 12:52469669:CCTG:C | donor_gain | 1.0000 |
| 12:52469887:CACA:C | acceptor_gain | 1.0000 |
| 12:52469889:CA:C | acceptor_gain | 1.0000 |
| 12:52469891:C:CC | acceptor_gain | 1.0000 |
| 12:52470631:C:CC | acceptor_gain | 1.0000 |
| 12:52470639:C:CT | acceptor_gain | 1.0000 |
| 12:52470640:A:T | acceptor_gain | 1.0000 |
| 12:52471128:TCA:T | donor_loss | 1.0000 |
| 12:52471129:CACCT:C | donor_loss | 1.0000 |
| 12:52471153:AG:A | donor_gain | 1.0000 |
| 12:52471197:TG:T | donor_gain | 1.0000 |
| 12:52471292:AGCTC:A | acceptor_gain | 1.0000 |
| 12:52471293:GCTC:G | acceptor_gain | 1.0000 |
| 12:52471294:CTC:C | acceptor_gain | 1.0000 |
AlphaMissense
3690 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:52470620:A:G | L363P | 0.999 |
| 12:52473216:A:C | F174L | 0.999 |
| 12:52473216:A:T | F174L | 0.999 |
| 12:52473217:A:C | F174C | 0.999 |
| 12:52473217:A:G | F174S | 0.999 |
| 12:52473218:A:G | F174L | 0.999 |
| 12:52469860:C:G | A412P | 0.998 |
| 12:52471155:C:G | A352P | 0.998 |
| 12:52471163:C:G | R349P | 0.998 |
| 12:52471176:C:G | A345P | 0.998 |
| 12:52471675:C:A | K271N | 0.998 |
| 12:52471675:C:G | K271N | 0.998 |
| 12:52472249:A:G | L191P | 0.998 |
| 12:52473225:G:C | N171K | 0.998 |
| 12:52473225:G:T | N171K | 0.998 |
| 12:52469827:C:G | A423P | 0.997 |
| 12:52470587:A:G | L374P | 0.997 |
| 12:52471250:A:G | L320P | 0.997 |
| 12:52471250:A:T | L320Q | 0.997 |
| 12:52472261:T:G | Q187P | 0.997 |
| 12:52472270:A:G | L184P | 0.997 |
| 12:52473214:G:T | A175D | 0.997 |
| 12:52473226:T:A | N171I | 0.997 |
| 12:52473229:A:G | L170P | 0.997 |
| 12:52469721:A:G | L458P | 0.996 |
| 12:52471165:G:C | S348R | 0.996 |
| 12:52471165:G:T | S348R | 0.996 |
| 12:52471167:T:G | S348R | 0.996 |
| 12:52471175:G:T | A345D | 0.996 |
| 12:52471188:A:G | Y341H | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000113268 (12:52470936 T>G), RS1001579291 (12:52470292 C>T), RS1003101883 (12:52475311 C>A,T), RS1003108179 (12:52474720 G>A,C), RS1003172279 (12:52468513 G>A), RS1003310714 (12:52468424 G>C), RS1003401956 (12:52474474 A>C,T), RS1003466850 (12:52473508 C>T), RS1004148335 (12:52473984 A>T), RS1004259875 (12:52474154 G>A), RS1004482773 (12:52472497 C>T), RS1004597273 (12:52473024 G>A,C), RS1006468056 (12:52474982 A>G), RS1007439716 (12:52471944 C>T), RS10083103 (12:52468081 G>A)
Disease associations
OMIM: gene MIM:612315 | disease phenotypes: MIM:615735
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| palmoplantar keratoderma, nonepidermolytic, focal or diffuse | Strong | Autosomal dominant |
Mondo (2): focal palmoplantar keratoderma (MONDO:0017672), palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MONDO:0014327)
Orphanet (2): Focal palmoplantar keratoderma (Orphanet:307837), Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (Orphanet:402003)
HPO phenotypes
5 total (5 of 5 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0002745 | Oral leukoplakia |
| HP:0007556 | Plantar hyperkeratosis |
| HP:0025092 | Epidermal acanthosis |
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
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| chloropicrin | affects expression, decreases expression | 2 |
| Potassium Dichromate | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| sodium arsenite | decreases expression | 1 |
| isobutyl alcohol | increases abundance, increases expression, affects cotreatment | 1 |
| 4-((3-bromophenyl)amino)-6,7-dimethoxyquinazoline | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Troglitazone | affects cotreatment, decreases expression, increases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | affects binding | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Estradiol | decreases expression | 1 |
| Gasoline | increases abundance, increases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects binding | 1 |
| Nickel | affects binding | 1 |
| Phenobarbital | affects expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| 1-Butanol | affects cotreatment, increases abundance, increases expression | 1 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): focal palmoplantar keratoderma, palmoplantar keratoderma, nonepidermolytic, focal or diffuse