KRT83
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Also known as Hb-3
Summary
KRT83 (keratin 83, HGNC:6460) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cuticular Hb3 (P78385).
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex.
Source: NCBI Gene 3889 — RefSeq curated summary.
At a glance
- Gene–disease (curated): monilethrix (Strong, GenCC) — +3 more curated relationships
- Clinical variants (ClinVar): 252 total — 1 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 30
- Druggable target: yes
- MANE Select transcript:
NM_002282
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6460 |
| Approved symbol | KRT83 |
| Name | keratin 83 |
| Location | 12q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Hb-3 |
| Ensembl gene | ENSG00000170523 |
| Ensembl biotype | protein_coding |
| OMIM | 602765 |
| Entrez | 3889 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000293670
RefSeq mRNA: 1 — MANE Select: NM_002282
NM_002282
CCDS: CCDS8823
Canonical transcript exons
ENST00000293670 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001192785 | 52314301 | 52314818 |
| ENSE00001322910 | 52320952 | 52321398 |
| ENSE00001627104 | 52317910 | 52317970 |
| ENSE00001649134 | 52316859 | 52317023 |
| ENSE00001659417 | 52316468 | 52316593 |
| ENSE00001664486 | 52317681 | 52317776 |
| ENSE00001666452 | 52319156 | 52319364 |
| ENSE00001736409 | 52315312 | 52315343 |
| ENSE00001782965 | 52315893 | 52316113 |
Expression profiles
Bgee: expression breadth broad, 73 present calls, max score 83.43.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0121 / max 15.1495, expressed in 2 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131025 | 0.0121 | 2 |
Top tissues by expression
261 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| diaphragm | UBERON:0001103 | 83.43 | gold quality |
| type B pancreatic cell | CL:0000169 | 80.34 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.02 | gold quality |
| gluteal muscle | UBERON:0002000 | 79.87 | silver quality |
| triceps brachii | UBERON:0001509 | 79.23 | gold quality |
| olfactory bulb | UBERON:0002264 | 79.15 | gold quality |
| vastus lateralis | UBERON:0001379 | 75.85 | gold quality |
| heart right ventricle | UBERON:0002080 | 75.17 | gold quality |
| quadriceps femoris | UBERON:0001377 | 74.78 | gold quality |
| myocardium | UBERON:0002349 | 74.75 | gold quality |
| endometrium epithelium | UBERON:0004811 | 72.74 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 72.68 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 72.45 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 72.26 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 71.38 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 71.21 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 70.67 | gold quality |
| hair follicle | UBERON:0002073 | 70.14 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 69.85 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 69.68 | gold quality |
| biceps brachii | UBERON:0001507 | 69.14 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 69.02 | gold quality |
| decidua | UBERON:0002450 | 68.86 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 68.46 | gold quality |
| thymus | UBERON:0002370 | 67.83 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 67.76 | gold quality |
| frontal pole | UBERON:0002795 | 67.73 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 67.31 | gold quality |
| paraflocculus | UBERON:0005351 | 67.29 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 67.12 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting KRT83, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-331-3P | 98.76 | 64.91 | 793 |
| HSA-MIR-5187-5P | 98.54 | 67.94 | 952 |
| HSA-MIR-10526-3P | 97.86 | 64.97 | 1342 |
| HSA-MIR-6728-5P | 97.79 | 66.33 | 891 |
| HSA-MIR-8057 | 97.64 | 66.54 | 897 |
| HSA-MIR-4456 | 97.50 | 64.88 | 1678 |
| HSA-MIR-4537 | 85.08 | 60.32 | 148 |
| HSA-MIR-5587-3P | 82.90 | 60.79 | 138 |
Literature-anchored findings (GeneRIF, showing 4)
- A heterozygous missense mutation in hHb3 causing the substitution of a glutamic acid by a lysine at position 407 in the helix termination motif defines this particular residue as a trichocyte keratin mutational hotspot associated with monilethrix. (PMID:15744029)
- The KRTHB3 expression uniformly occurred in the midcortex region. (PMID:15797458)
- Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86. (PMID:25557232)
- Our findings indicate that at least some cases of autosomal recessive Progressive symmetric erythrokeratoderma (PSEK)and autosomal dominant monilethrix are allelic, respectively resulting from loss-of-function and missense mutations in the KRT83 gene (PMID:27965375)
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), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)
Protein
Protein identifiers
Keratin, type II cuticular Hb3 — P78385 (reviewed: P78385)
Alternative names: Hair keratin K2.10, Keratin-83, Type II hair keratin Hb3, Type-II keratin Kb23
All UniProt accessions (1): P78385
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Heterotetramer of two type I and two type II keratins.
Tissue specificity. Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex.
Disease relevance. Erythrokeratodermia variabilis et progressiva 5 (EKVP5) [MIM:617756] A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Monilethrix 3 (MNLIX3) [MIM:621170] 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_002273* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003054 | Keratin_II | Family |
| IPR009030 | Growth_fac_rcpt_cys_sf | Homologous_superfamily |
| IPR018039 | IF_conserved | Conserved_site |
| IPR032444 | Keratin_2_head | Domain |
| IPR039008 | IF_rod_dom | Domain |
Pfam: PF00038, PF16208
UniProt features (18 total): region of interest 7, sequence variant 5, sequence conflict 3, chain 1, domain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P78385-F1 | 74.81 | 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): 217
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: 107 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GCM_MYCL1, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, MARTINEZ_RB1_TARGETS_DN, GOBP_MOLTING_CYCLE, GOBP_EPIDERMIS_DEVELOPMENT, GCM_TEC, POU3F2_02, GOBP_KERATINIZATION, MORF_ATF2, GOBP_SKIN_DEVELOPMENT, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON
GO Biological Process (4): epidermis development (GO:0008544), keratinization (GO:0031424), hair cycle (GO:0042633), 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 |
|---|---|
| tissue development | 1 |
| keratinocyte differentiation | 1 |
| multicellular organismal process | 1 |
| molting cycle | 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
830 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KRT83 | DSG4 | Q86SJ6 | 887 |
| KRT83 | KRT25 | Q7Z3Z0 | 460 |
| KRT83 | KRTAP3-1 | Q9BYR8 | 455 |
| KRT83 | FAM187B | Q17R55 | 453 |
| KRT83 | ZNF546 | Q86UE3 | 450 |
| KRT83 | KRTAP4-16 | G5E9R7 | 446 |
| KRT83 | KRTAP6-1 | Q3LI64 | 435 |
| KRT83 | OR7G3 | Q8NG95 | 429 |
| KRT83 | KRTAP16-1 | A8MUX0 | 423 |
| KRT83 | MAGEB16 | A2A368 | 406 |
| KRT83 | TCHH | Q07283 | 403 |
| KRT83 | CCHCR1 | Q8TD31 | 398 |
| KRT83 | SLC22A24 | Q8N4F4 | 396 |
| KRT83 | PRR27 | Q6MZM9 | 394 |
| KRT83 | CBY2 | Q8NA61 | 387 |
IntAct
144 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRT83 | KRT38 | psi-mi:“MI:0915”(physical association) | 0.780 |
| KRT38 | KRT83 | psi-mi:“MI:0915”(physical association) | 0.780 |
| KRT31 | KRT83 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT83 | KRT31 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT83 | KRTAP3-3 | psi-mi:“MI:0915”(physical association) | 0.630 |
| KRT83 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KRTAP10-7 | KRT83 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | KRT83 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-9 | KRT83 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLA | KRT83 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT83 | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT83 | KRTAP10-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT83 | OTX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (79): KRT83 (Two-hybrid), KRT38 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), KRT83 (Affinity Capture-MS), KRT83 (Affinity Capture-MS), KRT83 (Two-hybrid), KRT83 (Two-hybrid), KRT83 (Two-hybrid), KRT83 (Two-hybrid), KRT83 (Two-hybrid), KRT83 (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 48 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 | 32.6× | 2e-15 |
| Keratinization | 20 | 31.8× | 1e-24 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| morphogenesis of an epithelium | 13 | 117.7× | 3e-22 |
| intermediate filament organization | 13 | 82.4× | 2e-20 |
| epithelial cell differentiation | 12 | 55.4× | 1e-16 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
252 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 2 |
| Uncertain significance | 131 |
| Likely benign | 28 |
| Benign | 69 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 446110 | NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys) | Pathogenic |
| 191039 | NM_002282.3(KRT83):c.1244T>G (p.Leu415Arg) | Likely pathogenic |
| 6837 | NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) | Likely pathogenic |
SpliceAI
1199 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:52315890:CA:C | donor_loss | 1.0000 |
| 12:52315892:C:CT | donor_loss | 1.0000 |
| 12:52315892:CCT:C | donor_gain | 1.0000 |
| 12:52316109:GAGTT:G | acceptor_gain | 1.0000 |
| 12:52316110:AGTT:A | acceptor_gain | 1.0000 |
| 12:52316110:AGTTC:A | acceptor_gain | 1.0000 |
| 12:52316111:GTT:G | acceptor_gain | 1.0000 |
| 12:52316111:GTTC:G | acceptor_gain | 1.0000 |
| 12:52316112:TT:T | acceptor_gain | 1.0000 |
| 12:52316112:TTCTG:T | acceptor_gain | 1.0000 |
| 12:52316114:C:CC | acceptor_gain | 1.0000 |
| 12:52316121:G:C | acceptor_gain | 1.0000 |
| 12:52316121:G:GC | acceptor_gain | 1.0000 |
| 12:52316130:A:AC | acceptor_gain | 1.0000 |
| 12:52316130:A:C | acceptor_gain | 1.0000 |
| 12:52316132:A:AC | acceptor_gain | 1.0000 |
| 12:52316132:A:C | acceptor_gain | 1.0000 |
| 12:52316463:GGTAC:G | donor_loss | 1.0000 |
| 12:52316465:TA:T | donor_loss | 1.0000 |
| 12:52316466:A:C | donor_loss | 1.0000 |
| 12:52316467:C:CG | donor_loss | 1.0000 |
| 12:52316467:CCTG:C | donor_gain | 1.0000 |
| 12:52316468:CTGG:C | donor_gain | 1.0000 |
| 12:52316469:TGGC:T | donor_gain | 1.0000 |
| 12:52316589:TCACA:T | acceptor_gain | 1.0000 |
| 12:52316590:CACA:C | acceptor_gain | 1.0000 |
| 12:52316590:CACAC:C | acceptor_gain | 1.0000 |
| 12:52316591:ACA:A | acceptor_gain | 1.0000 |
| 12:52316592:CA:C | acceptor_gain | 1.0000 |
| 12:52316592:CAC:C | acceptor_gain | 1.0000 |
AlphaMissense
3227 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:52317913:C:A | K217N | 0.990 |
| 12:52317913:C:G | K217N | 0.990 |
| 12:52316882:C:G | A298P | 0.987 |
| 12:52320970:G:C | F122L | 0.986 |
| 12:52320970:G:T | F122L | 0.986 |
| 12:52320972:A:G | F122L | 0.986 |
| 12:52316479:C:G | A344P | 0.983 |
| 12:52316499:A:G | L337P | 0.983 |
| 12:52316520:A:G | L330P | 0.983 |
| 12:52320971:A:G | F122S | 0.982 |
| 12:52315952:C:A | K401N | 0.980 |
| 12:52315952:C:G | K401N | 0.980 |
| 12:52316050:C:G | A369P | 0.976 |
| 12:52316003:C:A | K384N | 0.975 |
| 12:52316003:C:G | K384N | 0.975 |
| 12:52316890:C:G | R295P | 0.975 |
| 12:52316514:C:G | R332P | 0.974 |
| 12:52316550:A:G | L320P | 0.974 |
| 12:52320971:A:C | F122C | 0.973 |
| 12:52320979:G:C | N119K | 0.972 |
| 12:52320979:G:T | N119K | 0.972 |
| 12:52317925:A:C | F213L | 0.969 |
| 12:52317925:A:T | F213L | 0.969 |
| 12:52317927:A:G | F213L | 0.969 |
| 12:52317939:C:G | A209P | 0.969 |
| 12:52315944:A:G | L404P | 0.967 |
| 12:52320961:G:C | F125L | 0.967 |
| 12:52320961:G:T | F125L | 0.967 |
| 12:52320963:A:G | F125L | 0.967 |
| 12:52319345:T:G | Q135P | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000154181 (12:52320424 G>A), RS1000243240 (12:52314479 G>A,C,T), RS1000810122 (12:52318806 G>A), RS1001331106 (12:52316058 A>C,G), RS1001481516 (12:52321488 C>A,T), RS1002930395 (12:52318435 T>C), RS1003497880 (12:52323062 T>C), RS1003792586 (12:52322486 A>G), RS1003824933 (12:52322737 C>T), RS1004106949 (12:52318172 GT>G,GTT), RS1004555621 (12:52316762 A>T), RS1004569594 (12:52322497 A>G), RS1004592659 (12:52322117 G>A), RS1004692256 (12:52322103 A>G,T), RS1006356570 (12:52318165 C>G,T)
Disease associations
OMIM: gene MIM:602765 | disease phenotypes: MIM:158000, MIM:617756, MIM:621170
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| monilethrix | Strong | Autosomal dominant |
| monilethrix-3 | Moderate | Autosomal dominant |
| erythrokeratodermia variabilis | Supportive | Autosomal dominant |
| erythrokeratodermia variabilis et progressiva 5 | Limited | Autosomal recessive |
Mondo (5): monilethrix (MONDO:0008009), erythrokeratodermia variabilis et progressiva 5 (MONDO:0033015), monilethrix-1 (MONDO:0700343), monilethrix-3 (MONDO:0700342), erythrokeratodermia variabilis (MONDO:0017851)
Orphanet (1): Monilethrix (Orphanet:573)
HPO phenotypes
30 total (30 of 30 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000164 | Abnormality of the dentition |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0000518 | Cataract |
| HP:0000534 | Abnormal eyebrow morphology |
| HP:0000962 | Hyperkeratosis |
| HP:0000972 | Palmoplantar hyperkeratosis |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0001249 | Intellectual disability |
| HP:0001387 | Joint stiffness |
| HP:0001595 | Abnormal hair morphology |
| HP:0001596 | Alopecia |
| HP:0001597 | Abnormal nail morphology |
| HP:0001805 | Onychogryphosis |
| HP:0002213 | Fine hair |
| HP:0002217 | Slow-growing hair |
| HP:0002232 | Patchy alopecia |
| HP:0002293 | Alopecia of scalp |
| HP:0002299 | Brittle hair |
| HP:0003593 | Infantile onset |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0008070 | Sparse hair |
| HP:0010783 | Erythema |
| HP:0011463 | Childhood onset |
| HP:0032470 | Monilethrix |
| HP:0100543 | Cognitive impairment |
| HP:0100699 | Scarring |
| HP:0100753 | Schizophrenia |
| HP:0200035 | Skin plaque |
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D056266 | Erythrokeratodermia Variabilis | C16.320.850.337; C17.800.229.606; C17.800.428.304; C17.800.827.337 |
| D056734 | Monilethrix | C16.131.077.592; C16.320.850.647; C17.800.329.984; C17.800.827.602 |
| C536154 | Keratoderma palmoplantaris transgrediens (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523262 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, decreases expression | 2 |
| butyraldehyde | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | increases methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | 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 |
|---|---|---|---|
| CHEMBL4341412 | Binding | Binding affinity to KRT83 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, erythrokeratodermia variabilis, erythrokeratodermia variabilis et progressiva 5, monilethrix-3
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): erythrokeratodermia variabilis, erythrokeratodermia variabilis et progressiva 5, monilethrix, monilethrix-1, monilethrix-3