KRT85

Summary

KRT85 (keratin 85, HGNC:6462) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cuticular Hb5 (P78386).

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.

Source: NCBI Gene 3891 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ectodermal dysplasia 4, hair/nail type (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 169 total — 1 pathogenic
• Phenotypes (HPO): 16
• Druggable target: yes
• MANE Select transcript: NM_002283

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6462
Approved symbol	KRT85
Name	keratin 85
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	Hb-5
Ensembl gene	ENSG00000135443
Ensembl biotype	protein_coding
OMIM	602767
Entrez	3891

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000257901, ENST00000544265, ENST00000552537

RefSeq mRNA: 2 — MANE Select: NM_002283 NM_001300810, NM_002283

CCDS: CCDS73472, CCDS8824

Canonical transcript exons

ENST00000257901 — 9 exons

Exon	Start	End
ENSE00000919876	52360006	52361046
ENSE00000919878	52362251	52362471
ENSE00000919883	52364962	52365170
ENSE00000919884	52366986	52367481
ENSE00001613638	52362854	52362979
ENSE00001701557	52361467	52361498
ENSE00001760224	52364306	52364366
ENSE00003530706	52363246	52363410
ENSE00003610254	52364068	52364163

Expression profiles

Bgee: expression breadth broad, 100 present calls, max score 87.03.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0376 / max 38.5049, expressed in 8 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131026	0.0376	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	87.03	gold quality
sperm	CL:0000019	80.03	gold quality
male germ cell	CL:0000015	77.54	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.92	silver quality
skin of hip	UBERON:0001554	68.17	gold quality
hair follicle	UBERON:0002073	66.83	gold quality
ileal mucosa	UBERON:0000331	65.31	silver quality
upper leg skin	UBERON:0004262	62.34	gold quality
decidua	UBERON:0002450	61.56	silver quality
nipple	UBERON:0002030	60.04	gold quality
buccal mucosa cell	CL:0002336	59.47	gold quality
tibialis anterior	UBERON:0001385	58.57	silver quality
periodontal ligament	UBERON:0008266	57.15	gold quality
zone of skin	UBERON:0000014	54.00	gold quality
deltoid	UBERON:0001476	52.45	gold quality
pancreatic ductal cell	CL:0002079	51.86	silver quality
skin of leg	UBERON:0001511	51.76	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	51.29	silver quality
right lung	UBERON:0002167	51.22	gold quality
middle temporal gyrus	UBERON:0002771	50.98	gold quality
skin of abdomen	UBERON:0001416	50.65	gold quality
body of tongue	UBERON:0011876	50.32	silver quality
quadriceps femoris	UBERON:0001377	50.29	gold quality
oocyte	CL:0000023	50.06	gold quality
epithelial cell of pancreas	CL:0000083	49.79	gold quality
vastus lateralis	UBERON:0001379	49.58	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting KRT85, 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-1193	100.00	65.93	529
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-10524-5P	99.05	66.08	963
HSA-MIR-1295B-5P	99.03	67.50	810
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-3194-3P	98.83	66.22	1167

Literature-anchored findings (GeneRIF, showing 6)

• Direct evidence relating to the molecular pathogenesis of pure hair-nail ectodermal dysplasias with KRTHB5 gene mutation. (PMID:16525032)
• Transfected p65 induces transcriptional activation of Hb5. (PMID:18021261)
• crucial role of K85 in keratinization of hair and nails as shown by homozygous mutations in families (PMID:19865094)
• Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene. (PMID:20409997)
• described for the first time KRT85 compound heterozygosity in caucasian patients, leading to pure hair and nail ectodermal dysplasia. Next generation sequencing molecular diagnosis allowed to confirm rapidly the diagnosis and to guide genetic counselling (PMID:31273852)
• De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks. (PMID:33605551)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krt85	ENSMUSG00000116336
rattus_norvegicus	Krt85	ENSRNOG00000008436

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), 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), KRT13 (ENSG00000171401)

Protein

Protein identifiers

Keratin, type II cuticular Hb5 — P78386 (reviewed: P78386)

Alternative names: Hair keratin K2.12, Keratin-85, Type II hair keratin Hb5, Type-II keratin Kb25

All UniProt accessions (2): P78386, F5GYI5

UniProt curated annotations — full annotation on UniProt →

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

Tissue specificity. Synthesis occurs immediately above a small population of matrix cells at the base of the hair bulb and the trichocytes lining the dermal papilla and extends upward through the matrix and ends in the lower part of the cortex of the hair shaft.

Disease relevance. Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032] A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. 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 (2): NP_001287739, NP_002274* (*=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 (13 total): region of interest 7, sequence variant 2, 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-P78386-F1	74.09	0.55

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): 229

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: 139 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, FOXO4_01, FOXO1_01, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, MARTINEZ_RB1_TARGETS_UP, TCF4_Q5, CATTTCA_MIR203, MODULE_298, GCM_DDX11, GOBP_EPIDERMIS_DEVELOPMENT, AFP1_Q6, POU3F2_02, GOBP_KERATINIZATION

GO Biological Process (3): epidermis development (GO:0008544), keratinization (GO:0031424), intermediate filament organization (GO:0045109)

GO Molecular Function (3): structural molecule activity (GO:0005198), 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
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
molecular_function	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

444 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT85	KRT35	Q92764	732
KRT85	HOXC13	P31276	492
KRT85	RFX8	Q6ZV50	462
KRT85	KRTAP3-1	Q9BYR8	411
KRT85	KRTAP4-3	Q9BYR4	400
KRT85	KRTAP9-1	A8MXZ3	384
KRT85	SMIM15	Q7Z3B0	370
KRT85	TUSC1	Q2TAM9	368
KRT85	ZNF354A	O60765	360
KRT85	OR2C3	Q8N628	348
KRT85	EDAR	Q9UNE0	348
KRT85	FOXN1	O15353	346
KRT85	KRTAP7-1	Q8IUC3	343
KRT85	EDARADD	Q8WWZ3	339
KRT85	KRTAP11-1	Q8IUC1	336

IntAct

110 interactions, top by confidence:

A	B	Type	Score
MLST8	MTOR	psi-mi:“MI:0914”(association)	0.850
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
KRT37	KRT85	psi-mi:“MI:0915”(physical association)	0.630
KRT85	KRT37	psi-mi:“MI:0915”(physical association)	0.630
KRT34	KRT85	psi-mi:“MI:0915”(physical association)	0.600
KRT36	KRT85	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KRT27	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	KRT85	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KRT31	psi-mi:“MI:0915”(physical association)	0.560
KRT19	KRT85	psi-mi:“MI:0915”(physical association)	0.560
KRT16	KRT85	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KRT39	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KRT35	psi-mi:“MI:0915”(physical association)	0.560
KRT15	KRT85	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KRT40	psi-mi:“MI:0915”(physical association)	0.560
KRT38	KRT85	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KRT33B	psi-mi:“MI:0915”(physical association)	0.560
KRT85	CREB5	psi-mi:“MI:0915”(physical association)	0.560
OTX1	KRT85	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KLHL38	psi-mi:“MI:0915”(physical association)	0.560
KRT85	TAB2	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KRT26	psi-mi:“MI:0915”(physical association)	0.560
KRT85	GNE	psi-mi:“MI:0915”(physical association)	0.560
KRT85	HAPLN2	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	KRT85	psi-mi:“MI:0915”(physical association)	0.560
KRT85	ZNF655	psi-mi:“MI:0915”(physical association)	0.560
KRT85	LHX8	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (72): KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Affinity Capture-MS), KRT85 (Two-hybrid), KRT85 (Two-hybrid), KRT85 (Two-hybrid), KRT85 (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 61 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	31.4×	7e-17
Keratinization	15	19.9×	4e-14
Macroautophagy	5	13.7×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	15	88.9×	1e-23
intermediate filament organization	15	62.3×	2e-21
epithelial cell differentiation	14	42.4×	2e-17

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	105
Likely benign	27
Benign	30

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
102444	NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs)	Pathogenic

SpliceAI

1070 predictions. Top by Δscore:

Variant	Effect	Δscore
12:52361044:CAC:C	acceptor_gain	1.0000
12:52361048:T:A	acceptor_loss	1.0000
12:52361465:A:AC	donor_gain	1.0000
12:52361466:C:CC	donor_gain	1.0000
12:52362245:CCCCA:C	donor_loss	1.0000
12:52362246:CCCA:C	donor_loss	1.0000
12:52362247:CCACC:C	donor_loss	1.0000
12:52362248:CACCT:C	donor_loss	1.0000
12:52362249:ACCT:A	donor_loss	1.0000
12:52362326:T:TA	donor_gain	1.0000
12:52362468:CACG:C	acceptor_gain	1.0000
12:52362470:CG:C	acceptor_gain	1.0000
12:52362472:C:CC	acceptor_gain	1.0000
12:52362975:TCACA:T	acceptor_gain	1.0000
12:52362976:CACA:C	acceptor_gain	1.0000
12:52362976:CACAC:C	acceptor_gain	1.0000
12:52362977:ACA:A	acceptor_gain	1.0000
12:52362978:C:CT	acceptor_gain	1.0000
12:52362978:CA:C	acceptor_gain	1.0000
12:52362979:ACTG:A	acceptor_loss	1.0000
12:52362980:C:CC	acceptor_gain	1.0000
12:52362980:C:CG	acceptor_loss	1.0000
12:52362981:T:C	acceptor_loss	1.0000
12:52363244:A:AC	donor_gain	1.0000
12:52363244:AC:A	donor_gain	1.0000
12:52363245:C:CC	donor_gain	1.0000
12:52363245:CC:C	donor_gain	1.0000
12:52363245:CCTTG:C	donor_gain	1.0000
12:52363408:CTC:C	acceptor_gain	1.0000
12:52363409:TC:T	acceptor_gain	1.0000

AlphaMissense

3305 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:52364309:C:A	K229N	0.998
12:52364309:C:G	K229N	0.998
12:52367004:G:C	F134L	0.997
12:52367004:G:T	F134L	0.997
12:52367005:A:G	F134S	0.997
12:52367006:A:G	F134L	0.997
12:52363269:C:G	A310P	0.996
12:52362272:A:G	L426P	0.995
12:52362310:C:A	K413N	0.995
12:52362310:C:G	K413N	0.995
12:52365160:A:G	L144P	0.995
12:52362290:A:C	I420S	0.994
12:52362906:A:G	L342P	0.994
12:52363364:A:T	V278D	0.994
12:52364335:C:G	A221P	0.994
12:52366995:G:C	F137L	0.994
12:52366995:G:T	F137L	0.994
12:52366997:A:G	F137L	0.994
12:52367005:A:C	F134C	0.994
12:52362302:A:G	L416P	0.993
12:52365166:C:G	R142P	0.993
12:52366993:A:T	I138N	0.993
12:52367013:G:C	N131K	0.993
12:52367013:G:T	N131K	0.993
12:52367017:A:G	L130P	0.993
12:52362282:A:C	Y423D	0.992
12:52362282:A:G	Y423H	0.992
12:52362288:C:G	A421P	0.992
12:52362408:C:G	A381P	0.992
12:52362885:A:G	L349P	0.992

dbSNP variants (sampled 300 via entrez): RS1000044252 (12:52360614 A>C), RS1000537337 (12:52364727 C>G), RS1000848800 (12:52368375 C>T), RS1001221613 (12:52360231 T>C), RS1001327463 (12:52365822 G>C), RS1001393434 (12:52365958 A>G), RS1001442977 (12:52365945 A>T), RS1001570920 (12:52360278 C>A), RS1003165133 (12:52364571 T>C), RS1003384251 (12:52363162 C>G,T), RS1003508484 (12:52361358 A>G), RS1003540368 (12:52368499 A>G), RS1003656489 (12:52368659 C>T), RS1003739862 (12:52367143 C>T), RS1004190635 (12:52361113 C>T)

Disease associations

OMIM: gene MIM:602767 | disease phenotypes: MIM:602032

GenCC curated gene-disease

Disease	Classification	Inheritance
ectodermal dysplasia 4, hair/nail type	Definitive	Autosomal recessive
pure hair and nail ectodermal dysplasia	Supportive	Autosomal dominant

Mondo (2): ectodermal dysplasia 4, hair/nail type (MONDO:0011177), pure hair and nail ectodermal dysplasia (MONDO:0019071)

Orphanet (1): Pure hair and nail ectodermal dysplasia (Orphanet:69084)

HPO phenotypes

16 total (16 of 16 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000164	Abnormality of the dentition
HP:0000561	Absent eyelashes
HP:0000971	Abnormal sweat gland morphology
HP:0000972	Palmoplantar hyperkeratosis
HP:0001249	Intellectual disability
HP:0001596	Alopecia
HP:0001806	Onycholysis
HP:0002223	Absent eyebrow
HP:0002231	Sparse body hair
HP:0002299	Brittle hair
HP:0003577	Congenital onset
HP:0003777	Pili torti
HP:0004524	Temporal hypotrichosis
HP:0008394	Congenital onychodystrophy
HP:0008404	Nail dystrophy

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000464_1	Acute lymphoblastic leukemia (childhood)	8.000000e-08
GCST008158_18	Body mass index	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566592	Ectodermal Dysplasia, Pure Hair-Nail Type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523263 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects binding, increases reaction, decreases expression	2
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Nicotine	increases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Valproic Acid	increases methylation	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
CHEMBL4341413	Binding	Binding affinity to KRT85 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.