DCAF8

Summary

DCAF8 (DDB1 and CUL4 associated factor 8, HGNC:24891) is a protein-coding gene on chromosome 1q23.2, encoding DDB1- and CUL4-associated factor 8 (Q5TAQ9). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 50717 — RefSeq curated summary.

At a glance

• Gene–disease (curated): giant axonal neuropathy 2 (Moderate, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 112 total — 1 likely-pathogenic
• Phenotypes (HPO): 15
• MANE Select transcript: NM_015726

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24891
Approved symbol	DCAF8
Name	DDB1 and CUL4 associated factor 8
Location	1q23.2
Locus type	gene with protein product
Status	Approved
Aliases	H326, FLJ35857
Ensembl gene	ENSG00000132716
Ensembl biotype	protein_coding
OMIM	615820
Entrez	50717

Gene structure

Transcript identifiers

Ensembl transcripts: 72 — 66 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000326837, ENST00000368073, ENST00000368074, ENST00000407642, ENST00000419626, ENST00000440682, ENST00000447377, ENST00000461888, ENST00000466253, ENST00000473382, ENST00000475733, ENST00000476033, ENST00000477163, ENST00000481831, ENST00000490368, ENST00000495887, ENST00000497354, ENST00000610139, ENST00000870521, ENST00000870522, ENST00000870523, ENST00000870524, ENST00000870525, ENST00000870526, ENST00000870527, ENST00000870528, ENST00000870529, ENST00000870530, ENST00000870531, ENST00000870532, ENST00000870533, ENST00000870534, ENST00000870535, ENST00000870536, ENST00000870537, ENST00000870538, ENST00000870539, ENST00000870540, ENST00000870541, ENST00000870542, ENST00000870543, ENST00000870544, ENST00000926587, ENST00000926588, ENST00000926589, ENST00000926590, ENST00000926591, ENST00000926592, ENST00000961162, ENST00000961163, ENST00000961164, ENST00000961165, ENST00000961166, ENST00000961167, ENST00000961168, ENST00000961169, ENST00000961170, ENST00000961171, ENST00000961172, ENST00000961173, ENST00000961174, ENST00000961175, ENST00000961176, ENST00000961177, ENST00000961178, ENST00000961179, ENST00000961180, ENST00000961181, ENST00000961182, ENST00000961183, ENST00000961184, ENST00000961185

RefSeq mRNA: 1 — MANE Select: NM_015726 NM_015726

CCDS: CCDS1200

Canonical transcript exons

ENST00000368074 — 14 exons

Exon	Start	End
ENSE00001249561	160261285	160261358
ENSE00001446265	160262449	160262549
ENSE00003518705	160218849	160218968
ENSE00003526819	160225062	160225119
ENSE00003694459	160224442	160224549
ENSE00003702694	160238607	160238747
ENSE00003703852	160222651	160222781
ENSE00003704517	160239697	160240370
ENSE00003704719	160237135	160237229
ENSE00003705527	160231297	160231407
ENSE00003707826	160225591	160225663
ENSE00003710276	160218324	160218440
ENSE00003711279	160243960	160244034
ENSE00003896705	160215720	160217708

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 99.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.0822 / max 336.9837, expressed in 1824 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15482	35.9353	1824
15485	10.2736	1774
15484	1.4316	905
15483	1.3166	859
15481	0.1250	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.08	gold quality
right lobe of thyroid gland	UBERON:0001119	98.87	gold quality
body of pancreas	UBERON:0001150	98.84	gold quality
mucosa of stomach	UBERON:0001199	98.84	gold quality
sural nerve	UBERON:0015488	98.82	gold quality
left lobe of thyroid gland	UBERON:0001120	98.74	gold quality
tibial nerve	UBERON:0001323	98.62	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.55	gold quality
right ovary	UBERON:0002118	98.40	gold quality
left ovary	UBERON:0002119	98.38	gold quality
calcaneal tendon	UBERON:0003701	98.38	gold quality
skin of abdomen	UBERON:0001416	98.36	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.36	gold quality
skin of leg	UBERON:0001511	98.35	gold quality
lower esophagus	UBERON:0013473	98.35	gold quality
cerebellar hemisphere	UBERON:0002245	98.34	gold quality
body of stomach	UBERON:0001161	98.32	gold quality
gall bladder	UBERON:0002110	98.29	gold quality
endocervix	UBERON:0000458	98.28	gold quality
adenohypophysis	UBERON:0002196	98.28	gold quality
right lobe of liver	UBERON:0001114	98.26	gold quality
metanephros cortex	UBERON:0010533	98.26	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.24	gold quality
body of uterus	UBERON:0009853	98.23	gold quality
cerebellar cortex	UBERON:0002129	98.20	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.20	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.19	gold quality
right lung	UBERON:0002167	98.15	gold quality
colonic epithelium	UBERON:0000397	98.12	gold quality
apex of heart	UBERON:0002098	98.11	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.57
E-GEOD-124858	no	337.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

144 targeting DCAF8, 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-1277-5P	100.00	73.95	5056
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833

Literature-anchored findings (GeneRIF, showing 5)

• while RNF10 and WDR42A or VP22 alone showed distinct subcellular localization patterns, RNF10 and WDR42A were relocated when co-expressed with VP22 or its homologues; these potential host cell factors of VP22 might expand the list of host targets of VP22 (PMID:21424732)
• WDR42A is a nucleocytoplasmic shuttling protein. (PMID:22500989)
• DCAF8 p.R317C mutation is responsible for specific variety of HMSN2 with infrequent giant axons and mild cardiomyopathy. (PMID:24500646)
• CRL4(DCAF8) and USP11 oppositely regulate the stability of myeloid leukemia factors (MLFs). (PMID:32703400)
• CRL4-DCAF8L1 Regulates BRCA1 and BARD1 Protein Stability. (PMID:35280675)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dcaf8	ENSDARG00000000324
mus_musculus	Dcaf8	ENSMUSG00000026554
rattus_norvegicus	Dcaf8	ENSRNOG00000006785
drosophila_melanogaster	CG8001	FBGN0035268

Paralogs (5): DCAF5 (ENSG00000139990), WDTC1 (ENSG00000142784), DCAF6 (ENSG00000143164), DCAF8L2 (ENSG00000189186), DCAF8L1 (ENSG00000226372)

Protein

Protein identifiers

DDB1- and CUL4-associated factor 8 — Q5TAQ9 (reviewed: Q5TAQ9)

Alternative names: WD repeat-containing protein 42A

All UniProt accessions (10): Q5TAQ9, Q5TAQ5, Q5TAQ6, Q5TAQ7, Q5TAQ8, V9GY54, V9GY98, V9GYQ9, V9GYZ9, V9GZ39

UniProt curated annotations — full annotation on UniProt →

Function. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

Subunit / interactions. Interacts with DDB1, CUL4A and CUL4B. Interacts with KPNA1, KPNB1 and XPO1.

Subcellular location. Nucleus. Cytoplasm.

Disease relevance. Giant axonal neuropathy 2, autosomal dominant (GAN2) [MIM:610100] An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the WD repeat DCAF8 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5TAQ9-1	1	yes
Q5TAQ9-2	2

RefSeq proteins (1): NP_056541* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR045151	DCAF8	Family

Pfam: PF00400

UniProt features (36 total): repeat 7, modified residue 6, sequence conflict 6, compositionally biased region 4, mutagenesis site 4, short sequence motif 2, splice variant 2, region of interest 2, chain 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9U7T	ELECTRON MICROSCOPY	3.1
3I8E	X-RAY DIFFRACTION	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TAQ9-F1	74.60	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 (6): 21, 22, 99, 129, 130, 204

Mutagenesis-validated functional residues (4):

Position	Phenotype
39–50	abrogates cytoplasmic localization.
115–122	abrogates nuclear localization.
314	reduces association with ddb1.
362	reduces association with ddb1.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8951664	Neddylation

MSigDB gene sets: 223 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, ONKEN_UVEAL_MELANOMA_UP, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, TCF11_01, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, GOBP_MYOTUBE_DIFFERENTIATION, GOBP_MYOTUBE_CELL_DEVELOPMENT, GOBP_CHROMATIN_REMODELING, DANG_BOUND_BY_MYC

GO Biological Process (2): myotube cell development (GO:0014904), protein ubiquitination (GO:0016567)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), Cul4-RING E3 ubiquitin ligase complex (GO:0080008)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular membrane-bounded organelle	2
cytoplasm	2
myotube differentiation	1
striated muscle cell development	1
protein modification by small protein conjugation	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

776 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCAF8	DDB1	Q16531	867
DCAF8	CUL4B	Q13620	685
DCAF8	GAN	Q9H2C0	644
DCAF8	DCAF4	Q8WV16	552
DCAF8	DCAF15	Q66K64	541
DCAF8	WDR76	Q9H967	518
DCAF8	CUL4A	Q13619	490
DCAF8	DCAF11	Q8TEB1	467
DCAF8	FBXO38	Q6PIJ6	409
DCAF8	DCAF12	Q5T6F0	382
DCAF8	CRBN	Q96SW2	369
DCAF8	LRSAM1	Q6UWE0	362
DCAF8	DCAF1	Q9Y4B6	353
DCAF8	DDB2	Q92466	344
DCAF8	LAMB4	A4D0S4	334

IntAct

126 interactions, top by confidence:

A	B	Type	Score
DDB1	DCAF8	psi-mi:“MI:0407”(direct interaction)	0.910
DDB1	DCAF8	psi-mi:“MI:0915”(physical association)	0.910
DCAF8	DDB1	psi-mi:“MI:0914”(association)	0.910
CUL4B	COPS2	psi-mi:“MI:0914”(association)	0.790
MDFI	DCAF8	psi-mi:“MI:0915”(physical association)	0.760
DCAF8	MDFI	psi-mi:“MI:0915”(physical association)	0.760
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
PTK2	TGFB1I1	psi-mi:“MI:0914”(association)	0.680
CUL4A	COPS2	psi-mi:“MI:0914”(association)	0.640
RPS14	CCZ1B	psi-mi:“MI:0914”(association)	0.640
RBPMS	DCAF8	psi-mi:“MI:0915”(physical association)	0.560
DCAF8	THAP1	psi-mi:“MI:0915”(physical association)	0.560
TRIM63	DCAF8	psi-mi:“MI:0915”(physical association)	0.540
TRIM63	DCAF8	psi-mi:“MI:0403”(colocalization)	0.540
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530

BioGRID (342): DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DCAF8 (Two-hybrid), DCAF8 (Two-hybrid), DCAF8 (Two-hybrid), THAP1 (Two-hybrid), DCAF8 (Affinity Capture-RNA), DCAF8 (Affinity Capture-MS), GTPBP3 (Two-hybrid), DCAF8 (Two-hybrid), DCAF8 (Affinity Capture-MS), DCAF8 (Two-hybrid), DCAF8 (Two-hybrid), DCAF8 (Two-hybrid)

ESM2 similar proteins: A2AWP8, A6QNS9, A7YY62, A7Z026, B2RYF1, D3ZVU9, D4ABL6, E9PV86, M0R7T9, O08838, O09112, O43189, O54951, O60347, O70141, O75864, O94827, P23726, P98201, Q13202, Q29RM4, Q3U2I3, Q3V038, Q5R448, Q5R5M3, Q5R8V2, Q5RD33, Q5TAQ9, Q5U2M6, Q5XI70, Q66T02, Q6A039, Q6DN14, Q6IR34, Q6P5H6, Q6ZN54, Q7Z6G3, Q8BKR5, Q8N612, Q8N7N5

Diamond homologs: A0A223GEB2, A0JMQ0, A1CQI9, A1D3F5, A1D7I5, A2QPZ4, A3LXF0, A4H6F7, A4HUV2, A4IHS2, A4R0Q1, A5DBG1, A5DWF4, A6QX61, A6RRD4, A6ZMA9, A8ID74, A8NWR2, A8PWB6, A8QD31, A8XYW9, A9UZS7, B0WC36, B0XQ42, B2AY28, B2VR76, B3MHX6, B3NLK7, B4GIU9, B4HN85, B4J9K1, B4KQU8, B4LKS9, B4MYI5, B4P528, F4IH25, G0SCK6, G1SJB4, G4MQX3, O42248

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 131 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
DNA Damage Recognition in GG-NER	6	19.2×	3e-04
Formation of TC-NER Pre-Incision Complex	6	14.3×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	79
Likely benign	11
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
133348	NM_015726.4(DCAF8):c.949C>T (p.Arg317Cys)	Likely pathogenic

SpliceAI

3015 predictions. Top by Δscore:

Variant	Effect	Δscore
1:160217704:CAGCG:C	acceptor_gain	1.0000
1:160217707:CG:C	acceptor_gain	1.0000
1:160217709:C:CC	acceptor_gain	1.0000
1:160218318:GCTTA:G	donor_loss	1.0000
1:160218319:CTTAC:C	donor_loss	1.0000
1:160218320:TTAC:T	donor_loss	1.0000
1:160218321:TACCC:T	donor_loss	1.0000
1:160218322:A:AG	donor_loss	1.0000
1:160218322:AC:A	donor_gain	1.0000
1:160218323:C:A	donor_loss	1.0000
1:160218323:CC:C	donor_gain	1.0000
1:160218438:CAC:C	acceptor_gain	1.0000
1:160218441:CTG:C	acceptor_loss	1.0000
1:160218442:T:A	acceptor_loss	1.0000
1:160218442:T:C	acceptor_loss	1.0000
1:160218449:C:CT	acceptor_gain	1.0000
1:160218449:C:T	acceptor_gain	1.0000
1:160218450:A:T	acceptor_gain	1.0000
1:160218844:CTTA:C	donor_loss	1.0000
1:160218845:TTA:T	donor_loss	1.0000
1:160218846:TA:T	donor_loss	1.0000
1:160218847:A:AC	donor_gain	1.0000
1:160218847:A:AG	donor_loss	1.0000
1:160218847:ACAT:A	donor_gain	1.0000
1:160218848:C:CA	donor_gain	1.0000
1:160218848:C:CC	donor_gain	1.0000
1:160218848:CA:C	donor_gain	1.0000
1:160218848:CAT:C	donor_gain	1.0000
1:160218848:CATC:C	donor_gain	1.0000
1:160218848:CATCT:C	donor_gain	1.0000

AlphaMissense

3951 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:160218896:A:G	W505R	1.000
1:160218896:A:T	W505R	1.000
1:160218919:C:A	G497V	1.000
1:160218919:C:T	G497D	1.000
1:160218920:C:G	G497R	1.000
1:160218928:G:T	A494E	1.000
1:160218960:A:C	C483W	1.000
1:160218963:G:C	N482K	1.000
1:160218963:G:T	N482K	1.000
1:160218965:T:C	N482D	1.000
1:160218965:T:G	N482H	1.000
1:160222668:C:A	G475W	1.000
1:160222705:C:A	W462C	1.000
1:160222705:C:G	W462C	1.000
1:160222706:C:G	W462S	1.000
1:160222707:A:G	W462R	1.000
1:160222707:A:T	W462R	1.000
1:160222726:G:C	D455E	1.000
1:160222726:G:T	D455E	1.000
1:160222727:T:A	D455V	1.000
1:160222727:T:C	D455G	1.000
1:160222727:T:G	D455A	1.000
1:160222728:C:A	D455Y	1.000
1:160222728:C:G	D455H	1.000
1:160222729:A:C	S454R	1.000
1:160222729:A:T	S454R	1.000
1:160222730:C:A	S454I	1.000
1:160222731:T:G	S454R	1.000
1:160222733:C:T	G453D	1.000
1:160222734:C:G	G453R	1.000

dbSNP variants (sampled 300 via entrez): RS1000021502 (1:160257268 T>C,G), RS1000051537 (1:160250476 A>C), RS1000192996 (1:160253684 G>A,C,T), RS1000247323 (1:160250686 T>A,C,G), RS1000250258 (1:160253934 C>A,T), RS1000335063 (1:160235341 C>G), RS1000381176 (1:160215409 T>C), RS1000384153 (1:160217499 C>T), RS1000409943 (1:160223114 G>A,C), RS1000421992 (1:160247690 T>A), RS1000561051 (1:160256862 T>C), RS1000581368 (1:160252367 G>C), RS1000627904 (1:160244556 G>A,T), RS1000691193 (1:160239228 T>G), RS1000889158 (1:160239611 C>T)

Disease associations

OMIM: gene MIM:615820 | disease phenotypes: MIM:610100, MIM:162200

GenCC curated gene-disease

Disease	Classification	Inheritance
giant axonal neuropathy 2	Moderate	Autosomal dominant

Mondo (2): giant axonal neuropathy 2 (MONDO:0012411), neurofibromatosis type 1 (MONDO:0018975)

Orphanet (2): Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (Orphanet:401964), Neurofibromatosis type 1 (Orphanet:636)

HPO phenotypes

15 total (15 of 15 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001265	Hyporeflexia
HP:0001284	Areflexia
HP:0001638	Cardiomyopathy
HP:0001761	Pes cavus
HP:0001765	Hammertoe
HP:0002460	Distal muscle weakness
HP:0003376	Steppage gait
HP:0003383	Onion bulb formation
HP:0003431	Decreased motor nerve conduction velocity
HP:0003444	EMG: chronic denervation signs
HP:0003477	Peripheral axonal neuropathy
HP:0003693	Distal amyotrophy
HP:0006886	Impaired distal vibration sensation
HP:0006937	Impaired distal tactile sensation

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003985_16	Breast size	1.000000e-07
GCST004750_92	Squamous cell lung carcinoma	7.000000e-06
GCST006482_5	Lung function (FEV1/FVC)	3.000000e-08
GCST006482_6	Lung function (FEV1/FVC)	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009456	Neurofibromatosis 1	C04.557.580.600.580.590.650; C04.700.631.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.633.650

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, affects expression	7
Acetaminophen	decreases expression, increases expression	2
Cyclosporine	decreases expression, decreases methylation	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
titanium dioxide	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Irinotecan	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Cadmium	increases abundance, increases expression	1
Coal	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Formaldehyde	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Lead	increases expression	1
Nickel	increases expression	1
Phthalic Acids	decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression, increases abundance	1
Dihydrotestosterone	increases expression	1
Thiram	decreases expression	1

Clinical trials (associated diseases)

181 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00169611	PHASE4	COMPLETED	NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate
NCT03975829	PHASE4	RECRUITING	Pediatric Long-Term Follow-up and Rollover Study
NCT02471339	PHASE3	COMPLETED	Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain
NCT03871257	PHASE3	ACTIVE_NOT_RECRUITING	A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma
NCT04461886	PHASE3	TERMINATED	A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I
NCT04924608	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas
NCT05913037	PHASE3	ACTIVE_NOT_RECRUITING	FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas
NCT00021541	PHASE2	COMPLETED	R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas
NCT00030264	PHASE2	COMPLETED	Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas
NCT00076102	PHASE2	COMPLETED	Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas
NCT00304083	PHASE2	COMPLETED	Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors
NCT00326872	PHASE2	TERMINATED	AZD2171 in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibroma and/or Neurofibroma Near the Spine
NCT00589784	PHASE2	COMPLETED	Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma
NCT00634270	PHASE2	COMPLETED	A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas
NCT00754780	PHASE2	COMPLETED	Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1
NCT00846430	PHASE2	COMPLETED	Medical Treatment of High-Risk Neurofibromas
NCT00853580	PHASE2	COMPLETED	A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1
NCT01125046	PHASE2	COMPLETED	Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas
NCT01402817	PHASE2	TERMINATED	Study of Sutent®/Sunitinib (SU11248) in Subjects With NF-1 Plexiform Neurofibromas
NCT01412892	PHASE2	COMPLETED	Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas
NCT01553149	PHASE2	COMPLETED	Low-Dose or High-Dose Lenalidomide in Treating Younger Patients With Recurrent, Refractory, or Progressive Pilocytic Astrocytoma or Optic Pathway Glioma
NCT01673009	PHASE2	COMPLETED	Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas
NCT01968590	PHASE2	TERMINATED	Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1)
NCT02096471	PHASE2	COMPLETED	MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1
NCT02101736	PHASE2	COMPLETED	Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults
NCT02332902	PHASE2	COMPLETED	Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T
NCT02407405	PHASE2	ACTIVE_NOT_RECRUITING	MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas
NCT02728388	PHASE2	RECRUITING	Photodynamic Therapy for Benign Dermal Neurofibromas- Phase II
NCT02839720	PHASE2	COMPLETED	Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma
NCT02964884	PHASE2	ACTIVE_NOT_RECRUITING	Interventions for Reading Disabilities in NF1
NCT03090971	PHASE2	COMPLETED	Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1
NCT03109301	PHASE2	WITHDRAWN	Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST)
NCT03190915	PHASE2	ACTIVE_NOT_RECRUITING	Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia
NCT03231306	PHASE2	COMPLETED	Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas
NCT03433183	PHASE2	COMPLETED	SARC031: MEK Inhibitor Selumetinib (AZD6244) in Combination With the mTOR Inhibitor Sirolimus for Patients With Malignant Peripheral Nerve Sheath Tumors
NCT03741101	PHASE2	UNKNOWN	Treatment of NF1-related Plexiform Neurofibroma With Trametinib
NCT03962543	PHASE2	ACTIVE_NOT_RECRUITING	MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexiform Neurofibromas
NCT04435665	PHASE2	COMPLETED	NFX-179 Topical Gel Treatment in Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF)
NCT04481035	PHASE2	COMPLETED	Antioxidant Therapy With N-acetylcysteine for Learning and Motor Behavior in Children With Neurofibromatosis Type 1
NCT04481048	PHASE2	ACTIVE_NOT_RECRUITING	Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1