KRT81

Summary

KRT81 (keratin 81, HGNC:6458) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cuticular Hb1 (Q14533).

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 KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. Some human genome assemblies (example T2T-CHM13) have a non-coding version of the gene due to the presence of a SNP that introduces a premature stop codon after codon 281.

Source: NCBI Gene 3887 — RefSeq curated summary.

At a glance

• Gene–disease (curated): monilethrix-1 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 158 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 20
• Druggable target: yes
• MANE Select transcript: NM_002281

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6458
Approved symbol	KRT81
Name	keratin 81
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	Hb-1
Ensembl gene	ENSG00000205426
Ensembl biotype	protein_coding
OMIM	602153
Entrez	3887

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000327741

RefSeq mRNA: 1 — MANE Select: NM_002281 NM_002281

CCDS: CCDS31805

Canonical transcript exons

ENST00000327741 — 9 exons

Exon	Start	End
ENSE00001600054	52287984	52288148
ENSE00001639658	52289215	52289275
ENSE00001750031	52290078	52290286
ENSE00001777616	52287102	52287322
ENSE00001790761	52288361	52288456
ENSE00001798334	52287596	52287721
ENSE00002155514	52291097	52291534
ENSE00003359099	52286791	52286822
ENSE00003411425	52285913	52286493

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 91.01.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4707 / max 200.4573, expressed in 146 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131021	1.4310	143
131022	0.0241	3
131020	0.0157	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
diaphragm	UBERON:0001103	91.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.53	gold quality
hair follicle	UBERON:0002073	84.15	silver quality
mammary duct	UBERON:0001765	82.41	silver quality
triceps brachii	UBERON:0001509	82.34	gold quality
gluteal muscle	UBERON:0002000	81.63	gold quality
vastus lateralis	UBERON:0001379	80.77	gold quality
upper arm skin	UBERON:0004263	80.62	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	80.06	gold quality
quadriceps femoris	UBERON:0001377	79.55	gold quality
lateral globus pallidus	UBERON:0002476	77.85	gold quality
decidua	UBERON:0002450	75.66	gold quality
oocyte	CL:0000023	75.58	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	75.58	gold quality
superficial temporal artery	UBERON:0001614	74.84	gold quality
lateral nuclear group of thalamus	UBERON:0002736	74.05	gold quality
vena cava	UBERON:0004087	74.02	gold quality
endometrium epithelium	UBERON:0004811	73.67	gold quality
biceps brachii	UBERON:0001507	73.32	gold quality
myocardium	UBERON:0002349	73.30	gold quality
nasal cavity epithelium	UBERON:0005384	73.12	gold quality
placenta	UBERON:0001987	73.10	gold quality
cerebellar vermis	UBERON:0004720	72.80	gold quality
substantia nigra pars reticulata	UBERON:0001966	72.50	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	72.48	gold quality
tongue squamous epithelium	UBERON:0006919	72.19	gold quality
body of tongue	UBERON:0011876	71.91	gold quality
secondary oocyte	CL:0000655	71.82	gold quality
substantia nigra pars compacta	UBERON:0001965	71.51	gold quality
trabecular bone tissue	UBERON:0002483	71.42	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-8559	yes	5479.48
E-GEOD-70580	yes	763.00
E-MTAB-6701	yes	98.81
E-MTAB-6678	yes	26.43
E-CURD-46	yes	11.40
E-MTAB-7249	yes	10.96
E-CURD-10	no	167.49
E-ANND-3	no	1.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting KRT81, 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-3667-3P	99.99	67.17	1636
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-520G-3P	98.91	67.38	1914
HSA-MIR-520H	98.91	67.38	1914
HSA-MIR-1288-5P	98.85	67.01	734
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-2278	97.30	66.19	1130
HSA-MIR-335-5P	97.10	68.12	1022
HSA-MIR-4515	95.70	65.73	716
HSA-MIR-365A-5P	94.91	63.72	471

Literature-anchored findings (GeneRIF, showing 13)

• EBV-dependent upregulation of hHb1-DeltaN in gastric carcinoma cell lines (PMID:14520698)
• The KRTHB1 expression uniformly occurred in the midcortex region. (PMID:15797458)
• Transfected p65 induces transcriptional activation of Hb1. (PMID:18021261)
• KRT81 has emerged as a promising immunohistochemical marker for the identification of squamous cell lung carcinoma (PMID:21799879)
• Overall survival was significantly longer in multiple myeloma patients with KRT81 rs3660 C/C variant (PMID:22539802)
• MiRNA-related single nucleotide polymorphism sites of KRT81 is associated with non-Hodgkin’s lymphoma. (PMID:24530479)
• Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86. (PMID:25557232)
• The analysis of the KRT81rs3660G>C polymorphism may be useful to identify non-small cell lung cancer patients at high risk of a poor disease outcome. (PMID:25716425)
• Results show that full size KRT81 is expressed in normal breast epithelial cells and breast cancer cells, and indicate that KRT81 contributes to the migration and invasion of breast cancer cells. (PMID:28405679)
• analysis of KRT81 and HNF1A expression by IHC is a reliable way to identify biologically relevant subtypes of PDAC that could easily be integrated into common pathologic practice. (PMID:29101303)
• A Polymorphism at the microRNA Binding Site in the 3’ Untranslated Region of KRT81 Is Associated with Breast Cancer. (PMID:32678982)
• KRT81 Knockdown Inhibits Malignant Progression of Melanoma Through Regulating Interleukin-8. (PMID:34591651)
• Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity. (PMID:37949677)

Cross-species orthologs

0 orthologs

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360)

Protein

Protein identifiers

Keratin, type II cuticular Hb1 — Q14533 (reviewed: Q14533)

Alternative names: Hair keratin K2.9, Keratin, hair, basic, 1, Keratin-81, Metastatic lymph node 137 gene protein, Type II hair keratin Hb1, Type-II keratin Kb21, ghHKb1

All UniProt accessions (1): Q14533

UniProt curated annotations — full annotation on UniProt →

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

Tissue specificity. Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue.

Disease relevance. Monilethrix 2 (MNLIX2) [MIM:621169] 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_002272* (*=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 (17 total): region of interest 7, sequence variant 6, 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-Q14533-F1	74.40	0.52

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: 150 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, MARTINEZ_RB1_TARGETS_DN, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_KERATINIZATION, HAN_SATB1_TARGETS_DN, GOBP_SKIN_DEVELOPMENT, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, PACHER_TARGETS_OF_IGF1_AND_IGF2_UP, HUANG_FOXA2_TARGETS_DN, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, SMID_BREAST_CANCER_LUMINAL_B_DN

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

884 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT81	DSG4	Q86SJ6	738
KRT81	TOGARAM1	Q9Y4F4	483
KRT81	KIF7	Q2M1P5	481
KRT81	HNRNPU	Q00839	469
KRT81	TCHHL1	Q5QJ38	457
KRT81	KIF27	Q86VH2	450
KRT81	TMEM260	Q9NX78	445
KRT81	ACVR2A	P27037	431
KRT81	NEUROG1	Q92886	430
KRT81	GDF1	P27539	429
KRT81	S100A7	P31151	427
KRT81	HHIP	Q96QV1	424
KRT81	CTNNB1	P35222	419
KRT81	KLK6	Q92876	416
KRT81	OTX1	P32242	414

IntAct

120 interactions, top by confidence:

A	B	Type	Score
KRT81	KRT38	psi-mi:“MI:0915”(physical association)	0.810
KRT38	KRT81	psi-mi:“MI:0915”(physical association)	0.810
KRT81	OTX1	psi-mi:“MI:0915”(physical association)	0.720
KRT81	KRT31	psi-mi:“MI:0915”(physical association)	0.720
KRT31	KRT81	psi-mi:“MI:0915”(physical association)	0.720
KRT40	KRT81	psi-mi:“MI:0915”(physical association)	0.720
KRT81	KRT40	psi-mi:“MI:0915”(physical association)	0.720
OTX1	KRT81	psi-mi:“MI:0915”(physical association)	0.720
KRT15	KRT81	psi-mi:“MI:0915”(physical association)	0.670
KRT37	KRT81	psi-mi:“MI:0915”(physical association)	0.630

BioGRID (73): KRT81 (Two-hybrid), OTX1 (Two-hybrid), KRT38 (Two-hybrid), KRT40 (Two-hybrid), KXD1 (Two-hybrid), KRT81 (Two-hybrid), KXD1 (Affinity Capture-Western), KRT81 (PCA), Hoxa1 (Affinity Capture-Western), OTX1 (Two-hybrid), KRT81 (Two-hybrid), KRT81 (Two-hybrid), KRT81 (Two-hybrid), KRT81 (Two-hybrid), KRT81 (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 36 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	15	50.7×	2e-21
Keratinization	15	32.1×	1e-18

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	14	141.6×	1e-25
intermediate filament organization	14	99.1×	1e-23
epithelial cell differentiation	12	62.0×	2e-17

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	110
Likely benign	13
Benign	25

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
7501	NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)	Pathogenic
7502	NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)	Likely pathogenic

SpliceAI

896 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

3293 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:52291115:G:C	F117L	0.991
12:52291115:G:T	F117L	0.991
12:52291117:A:G	F117L	0.991
12:52289244:C:G	A204P	0.990
12:52291116:A:G	F117S	0.990
12:52287123:A:G	L409P	0.988
12:52287133:A:C	Y406D	0.988
12:52287161:C:A	K396N	0.988
12:52287161:C:G	K396N	0.988
12:52287607:C:G	A339P	0.988
12:52287133:A:G	Y406H	0.987
12:52289218:C:A	K212N	0.985
12:52289218:C:G	K212N	0.985
12:52287139:C:G	A404P	0.984
12:52287153:A:G	L399P	0.984
12:52287259:C:G	A364P	0.984
12:52287627:A:G	L332P	0.983
12:52290267:T:G	Q130P	0.983
12:52291116:A:C	F117C	0.983
12:52287143:C:A	E402D	0.982
12:52287143:C:G	E402D	0.982
12:52291124:G:C	N114K	0.982
12:52291124:G:T	N114K	0.982
12:52287141:A:C	I403S	0.981
12:52287217:C:G	A378P	0.981
12:52291106:G:C	F120L	0.980
12:52291106:G:T	F120L	0.980
12:52291108:A:G	F120L	0.980
12:52290272:C:A	E128D	0.979
12:52290272:C:G	E128D	0.979

dbSNP variants (sampled 300 via entrez): RS1000437601 (12:52288662 C>T), RS1000746592 (12:52289181 A>G), RS1000833401 (12:52295813 A>G), RS1000994955 (12:52291963 T>G), RS1001067984 (12:52301963 C>G,T), RS1001178166 (12:52287906 A>T), RS1001666387 (12:52295098 G>A), RS1001996880 (12:52293424 T>C), RS1002143505 (12:52288250 C>A,G,T), RS1002232890 (12:52299995 G>T), RS1002294914 (12:52301250 G>A), RS1002308366 (12:52309830 G>A), RS1002460753 (12:52286101 G>C,T), RS1002605068 (12:52299695 T>C), RS1002708914 (12:52306807 AT>A)

Disease associations

OMIM: gene MIM:602153 | disease phenotypes: MIM:158000, MIM:621169

GenCC curated gene-disease

Disease	Classification	Inheritance
monilethrix-1	Strong	Autosomal dominant
monilethrix	Moderate	Autosomal dominant

Mondo (3): monilethrix-1 (MONDO:0700343), monilethrix (MONDO:0008009), monilethrix-2 (MONDO:0700341)

Orphanet (1): Monilethrix (Orphanet:573)

HPO phenotypes

20 total (20 of 20 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:0002213	Fine hair
HP:0002217	Slow-growing hair
HP:0002232	Patchy alopecia
HP:0002289	Alopecia universalis
HP:0002299	Brittle hair
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0007502	Follicular hyperkeratosis
HP:0008070	Sparse hair
HP:0032470	Monilethrix
HP:0100543	Cognitive impairment
HP:0100753	Schizophrenia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002875_23	Diisocyanate-induced asthma	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate

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): CHEMBL4523292 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
GSK-J4	decreases expression	1
quercitrin	decreases expression	1
beta-lapachone	increases expression	1
arsenite	increases expression	1
sodium arsenite	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
tobacco tar	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
jinfukang	affects cotreatment, decreases expression	1
NSC 689534	affects binding, increases expression	1
Temozolomide	increases expression	1
Zoledronic Acid	decreases expression	1
Orlistat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Copper	affects binding, increases expression	1
Formaldehyde	decreases expression	1
Mustard Gas	increases expression	1
Thiram	decreases expression	1
Valproic Acid	decreases expression	1
Vanadates	increases expression	1
Cyclosporine	increases expression	1
Asbestos, Serpentine	increases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases 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
CHEMBL4341410	Binding	Binding affinity to KRT81 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.