KRT86
gene geneOn this page
Also known as MNXHb6
Summary
KRT86 (keratin 86, HGNC:6463) is a protein-coding gene on chromosome 12q13, encoding Keratin, type II cuticular Hb6 (O43790).
This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix.
Source: NCBI Gene 3892 — RefSeq curated summary.
At a glance
- Gene–disease (curated): monilethrix (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 4
- Clinical variants (ClinVar): 163 total — 5 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 23
- Druggable target: yes
- MANE Select transcript:
NM_001320198
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6463 |
| Approved symbol | KRT86 |
| Name | keratin 86 |
| Location | 12q13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MNX, Hb6 |
| Ensembl gene | ENSG00000170442 |
| Ensembl biotype | protein_coding |
| OMIM | 601928 |
| Entrez | 3892 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000293525, ENST00000423955, ENST00000553310, ENST00000958042
RefSeq mRNA: 1 — MANE Select: NM_001320198
NM_001320198
CCDS: CCDS41785
Canonical transcript exons
ENST00000423955 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001192821 | 52308404 | 52309163 |
| ENSE00003258183 | 52275821 | 52275946 |
| ENSE00003291427 | 52303100 | 52303308 |
| ENSE00003299386 | 52274645 | 52274722 |
| ENSE00003324040 | 52304932 | 52305027 |
| ENSE00003380886 | 52304111 | 52304171 |
| ENSE00003390986 | 52305240 | 52305404 |
| ENSE00003396590 | 52305663 | 52305788 |
| ENSE00003401680 | 52308233 | 52308264 |
| ENSE00003413101 | 52306060 | 52306280 |
| ENSE00003702225 | 52301913 | 52302285 |
Expression profiles
Bgee: expression breadth ubiquitous, 160 present calls, max score 93.03.
FANTOM5 (CAGE): breadth broad, TPM avg 0.5886 / max 74.6373, expressed in 204 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 125609 | 0.3031 | 162 |
| 125610 | 0.1640 | 98 |
| 125615 | 0.0829 | 6 |
| 125611 | 0.0194 | 8 |
| 125612 | 0.0191 | 5 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.03 | gold quality |
| sperm | CL:0000019 | 84.91 | silver quality |
| right coronary artery | UBERON:0001625 | 82.14 | gold quality |
| male germ cell | CL:0000015 | 81.96 | silver quality |
| upper arm skin | UBERON:0004263 | 79.65 | silver quality |
| buccal mucosa cell | CL:0002336 | 76.00 | silver quality |
| hair follicle | UBERON:0002073 | 74.10 | silver quality |
| endometrium epithelium | UBERON:0004811 | 72.89 | gold quality |
| coronary artery | UBERON:0001621 | 70.34 | gold quality |
| ascending aorta | UBERON:0001496 | 70.05 | gold quality |
| amniotic fluid | UBERON:0000173 | 70.04 | gold quality |
| left coronary artery | UBERON:0001626 | 69.96 | gold quality |
| thoracic aorta | UBERON:0001515 | 69.71 | gold quality |
| tibialis anterior | UBERON:0001385 | 69.46 | silver quality |
| pancreatic ductal cell | CL:0002079 | 69.09 | silver quality |
| decidua | UBERON:0002450 | 68.12 | silver quality |
| left lobe of thyroid gland | UBERON:0001120 | 65.97 | gold quality |
| thyroid gland | UBERON:0002046 | 65.71 | gold quality |
| placenta | UBERON:0001987 | 65.13 | gold quality |
| body of pancreas | UBERON:0001150 | 64.79 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 64.42 | gold quality |
| aorta | UBERON:0000947 | 64.35 | gold quality |
| secondary oocyte | CL:0000655 | 63.29 | gold quality |
| minor salivary gland | UBERON:0001830 | 63.29 | gold quality |
| deltoid | UBERON:0001476 | 62.99 | silver quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 62.96 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 62.93 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 62.87 | gold quality |
| left testis | UBERON:0004533 | 62.36 | gold quality |
| spinal cord | UBERON:0002240 | 62.11 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-70580 | yes | 916.28 |
| E-MTAB-6678 | yes | 651.33 |
| E-MTAB-6701 | yes | 95.04 |
| E-CURD-46 | yes | 15.93 |
| E-CURD-122 | yes | 10.16 |
| E-ANND-3 | no | 1.71 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 10)
- The KRTHB6 expression uniformly occurred in the midcortex region. (PMID:15797458)
- The results emphasized the key role of hair keratin hHB6 in the pathogenesis of monilethrix and indicated that the common mutation of hHB6 was also a cause of monilethrix in Chinese. (PMID:18393232)
- Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. (PMID:19505862)
- Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. (PMID:22568869)
- Results idntify a novel mutation of krt86 protein causing monilethrix located in a region other than the helix. (PMID:22670615)
- The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix. (PMID:23981620)
- Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86. (PMID:25557232)
- Analysis of KRT86 revealed a novel mutation, c.1231G>T;p.Glu411*, in exon 7 in the three affected children and their mother with monilethrix. (PMID:25809918)
- Study reported here a three-generation Chinese family with autosomal dominant monilethrix carrying a novel missense mutation c.1223G>C in KRT86. (PMID:29701253)
- Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family. (PMID:38594178)
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), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)
Protein
Protein identifiers
Keratin, type II cuticular Hb6 — O43790 (reviewed: O43790)
Alternative names: Hair keratin K2.11, Keratin-86, Type II hair keratin Hb6, Type-II keratin Kb26
All UniProt accessions (2): O43790, U3KPR1
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Heterotetramer of two type I and two type II keratins.
Tissue specificity. Synthesis begins slightly higher in the hair shaft than HB1 and HB3 and continues much farther up, ending in the keratogeneous zone.
Disease relevance. Monilethrix 1 (MNLIX1) [MIM:158000] A form of monilethrix, a disorder of the hair shaft characterized by brittle hair, follicular papules, and varying degrees of alopecia. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. Inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).
Similarity. Belongs to the intermediate filament family.
RefSeq proteins (1): NP_001307127* (*=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 (19 total): sequence variant 8, region of interest 7, chain 1, domain 1, sequence conflict 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43790-F1 | 75.50 | 0.53 |
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 (1): 212
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: 198 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD11B_DC_UP, MODULE_52, GOBP_EPITHELIUM_DEVELOPMENT, MORF_FLT1, CAR_TNFRSF25, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, MORF_MSH3, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, MODULE_45, MORF_BRCA1, MORF_ATRX, FOXO4_01, MORF_ESR1, MODULE_16
GO Biological Process (2): keratinization (GO:0031424), intermediate filament organization (GO:0045109)
GO Molecular Function (2): structural constituent of skin epidermis (GO:0030280), protein binding (GO:0005515)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), cytosol (GO:0005829), keratin filament (GO:0045095), 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 |
|---|---|
| keratinocyte differentiation | 1 |
| multicellular organismal 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 | 1 |
| intermediate filament cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
155 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRT86 | KRT15 | psi-mi:“MI:0915”(physical association) | 0.780 |
| KRT15 | KRT86 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KRT86 | KRT39 | psi-mi:“MI:0915”(physical association) | 0.630 |
| MEOX2 | KRT86 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT37 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT31 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT36 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT34 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT16 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT35 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT33B | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | KRT86 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | ODF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | KRT32 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT86 | ZNF414 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (89): KRT86 (Two-hybrid), MEOX2 (Two-hybrid), KRT86 (Affinity Capture-MS), KRT86 (Affinity Capture-MS), KRT86 (Affinity Capture-MS), KRT86 (Affinity Capture-MS), KRT86 (Two-hybrid), KRT86 (Two-hybrid), KRT86 (Two-hybrid), KRT86 (Two-hybrid), KRT86 (Two-hybrid), KRT86 (Two-hybrid), KRT86 (Two-hybrid), KRT86 (Two-hybrid), KRT86 (Two-hybrid)
ESM2 similar proteins: A4FUZ0, A5A6M5, A5A6P3, A6QNX5, A7YWK3, B0LKP1, B1AQ75, E1AB55, O43790, O76009, O76013, P02534, P15241, P19013, P25690, P25691, P78385, P78386, P97861, Q0P5J7, Q14525, Q14532, Q14533, Q148H4, Q148H5, Q148H7, Q148H8, Q14CN4, Q15323, Q3SY84, Q497I4, Q61765, Q61897, Q62168, Q6IG03, Q6IG04, Q6IME9, Q6IMF0, Q6NXH9, Q86Y46
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
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 60 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 | 18 | 42.7× | 1e-23 |
| Keratinization | 18 | 27.1× | 3e-20 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| morphogenesis of an epithelium | 17 | 106.3× | 5e-29 |
| intermediate filament organization | 18 | 78.8× | 2e-28 |
| epithelial cell differentiation | 15 | 47.9× | 5e-20 |
| epidermis development | 5 | 19.1× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
163 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 1 |
| Uncertain significance | 86 |
| Likely benign | 21 |
| Benign | 34 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 7609 | NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys) | Pathogenic |
| 7610 | NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp) | Pathogenic |
| 7612 | NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp) | Pathogenic |
| 7613 | NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln) | Pathogenic |
| 7614 | NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu) | Pathogenic |
| 7611 | NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys) | Likely pathogenic |
SpliceAI
2577 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:52286789:A:AC | donor_gain | 1.0000 |
| 12:52286790:C:CC | donor_gain | 1.0000 |
| 12:52287097:CCCA:C | donor_loss | 1.0000 |
| 12:52287099:CA:C | donor_loss | 1.0000 |
| 12:52287100:A:AC | donor_gain | 1.0000 |
| 12:52287100:ACC:A | donor_loss | 1.0000 |
| 12:52287101:C:CA | donor_loss | 1.0000 |
| 12:52287101:C:CC | donor_gain | 1.0000 |
| 12:52287101:CCT:C | donor_gain | 1.0000 |
| 12:52287187:C:CA | donor_gain | 1.0000 |
| 12:52287318:GAGTT:G | acceptor_gain | 1.0000 |
| 12:52287319:AGTT:A | acceptor_gain | 1.0000 |
| 12:52287319:AGTTC:A | acceptor_gain | 1.0000 |
| 12:52287320:GTT:G | acceptor_gain | 1.0000 |
| 12:52287320:GTTCT:G | acceptor_gain | 1.0000 |
| 12:52287321:TT:T | acceptor_gain | 1.0000 |
| 12:52287321:TTCT:T | acceptor_gain | 1.0000 |
| 12:52287322:TCTGA:T | acceptor_gain | 1.0000 |
| 12:52287323:C:CC | acceptor_gain | 1.0000 |
| 12:52287323:CTG:C | acceptor_gain | 1.0000 |
| 12:52287324:T:A | acceptor_gain | 1.0000 |
| 12:52287324:T:C | acceptor_loss | 1.0000 |
| 12:52287333:C:CT | acceptor_gain | 1.0000 |
| 12:52287334:A:T | acceptor_gain | 1.0000 |
| 12:52287594:A:T | donor_loss | 1.0000 |
| 12:52287595:CCTG:C | donor_gain | 1.0000 |
| 12:52287597:TGGC:T | donor_gain | 1.0000 |
| 12:52287613:C:CT | donor_gain | 1.0000 |
| 12:52287614:C:CT | donor_gain | 1.0000 |
| 12:52287717:TCAC:T | acceptor_gain | 1.0000 |
AlphaMissense
3178 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:52304168:G:C | K212N | 0.995 |
| 12:52304168:G:T | K212N | 0.995 |
| 12:52306259:T:C | L409P | 0.995 |
| 12:52302265:T:C | F117L | 0.994 |
| 12:52302267:C:A | F117L | 0.994 |
| 12:52302267:C:G | F117L | 0.994 |
| 12:52302266:T:C | F117S | 0.993 |
| 12:52305757:T:C | L332P | 0.993 |
| 12:52305777:G:C | A339P | 0.993 |
| 12:52306221:G:C | K396N | 0.993 |
| 12:52306221:G:T | K396N | 0.993 |
| 12:52306249:T:C | Y406H | 0.993 |
| 12:52306229:T:C | L399P | 0.991 |
| 12:52306239:G:C | E402D | 0.991 |
| 12:52306239:G:T | E402D | 0.991 |
| 12:52306243:G:C | A404P | 0.991 |
| 12:52306249:T:G | Y406D | 0.991 |
| 12:52306241:T:G | I403S | 0.990 |
| 12:52302258:C:A | N114K | 0.989 |
| 12:52302258:C:G | N114K | 0.989 |
| 12:52303119:A:C | Q130P | 0.989 |
| 12:52306165:G:C | A378P | 0.989 |
| 12:52302254:T:C | L113P | 0.988 |
| 12:52303110:T:C | L127P | 0.988 |
| 12:52302266:T:G | F117C | 0.987 |
| 12:52302274:T:C | F120L | 0.987 |
| 12:52302276:C:A | F120L | 0.987 |
| 12:52302276:C:G | F120L | 0.987 |
| 12:52304154:T:C | F208L | 0.987 |
| 12:52304156:T:A | F208L | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000437601 (12:52288662 C>T), RS1000599780 (12:52282815 T>C), RS1000746592 (12:52289181 A>G), RS1000833401 (12:52295813 A>G), RS1000869663 (12:52276868 G>A,C), RS1000922207 (12:52277128 G>A), RS1000994955 (12:52291963 T>G), RS1001067984 (12:52301963 C>G,T), RS1001178166 (12:52287906 A>T), RS1001452533 (12:52283682 A>G,T), RS1001470675 (12:52273156 A>G), RS1001595314 (12:52279580 A>G,T), RS1001666387 (12:52295098 G>A), RS1001870986 (12:52282063 C>G,T), RS1001996880 (12:52293424 T>C)
Disease associations
OMIM: gene MIM:601928 | disease phenotypes: MIM:158000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| monilethrix | Strong | Autosomal dominant |
| monilethrix-1 | Strong | Autosomal dominant |
Mondo (2): monilethrix (MONDO:0008009), monilethrix-1 (MONDO:0700343)
Orphanet (1): Monilethrix (Orphanet:573)
HPO phenotypes
23 total (23 of 23 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000164 | Abnormality of the dentition |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0000518 | Cataract |
| HP:0000534 | Abnormal eyebrow morphology |
| HP:0001249 | Intellectual disability |
| HP:0001596 | Alopecia |
| HP:0001597 | Abnormal nail morphology |
| HP:0002164 | Nail dysplasia |
| HP:0002213 | Fine hair |
| HP:0002217 | Slow-growing hair |
| HP:0002232 | Patchy alopecia |
| HP:0002299 | Brittle hair |
| HP:0003593 | Infantile onset |
| HP:0003828 | Variable expressivity |
| HP:0007468 | Perifollicular hyperkeratosis |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0008070 | Sparse hair |
| HP:0008404 | Nail dystrophy |
| HP:0010719 | Abnormality of hair texture |
| HP:0032152 | Keratosis pilaris |
| HP:0100543 | Cognitive impairment |
| HP:0100753 | Schizophrenia |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002359_4 | Plasma amyloid beta peptide concentrations (ABx-42) | 2.000000e-06 |
| GCST002875_23 | Diisocyanate-induced asthma | 1.000000e-06 |
| GCST006988_173 | Blond vs. brown/black hair color | 2.000000e-12 |
| GCST007637_15 | Diffusing capacity of carbon monoxide | 7.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005660 | plasma beta-amyloid 1-42 measurement |
| EFO:0006995 | response to diisocyanate |
| EFO:0003924 | hair color |
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D056734 | Monilethrix | C16.131.077.592; C16.320.850.647; C17.800.329.984; C17.800.827.602 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523139 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, increases expression | 2 |
| Estradiol | affects expression, increases reaction, decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| afuresertib | increases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butylbenzyl phthalate | increases expression | 1 |
| vanadyl sulfate | increases expression | 1 |
| homosalate | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Fluorouracil | decreases expression, affects response to substance | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Polystyrenes | affects cotreatment, decreases expression | 1 |
| Progesterone | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tamoxifen | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Vitallium | decreases expression | 1 |
| Aflatoxin B1 | decreases expression | 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 |
|---|---|---|---|
| CHEMBL4341411 | Binding | Binding affinity to KRT86 in human A549 cells lysates grown on SILAC media at 10 uM incubated for 1 hr by LC-MS/MS analysis relative to untreated control | Profiling withanolide A for therapeutic targets in neurodegenerative diseases. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: monilethrix, monilethrix-1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): monilethrix, monilethrix-1