TUBD1

Summary

TUBD1 (tubulin delta 1, HGNC:16811) is a protein-coding gene on chromosome 17q23.1, encoding Tubulin delta chain (Q9UJT1). Acts as a positive regulator of hedgehog signaling and regulates ciliary function. It is a selective cancer dependency (DepMap: 37.1% of cell lines).

Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization; mitotic cell cycle; and positive regulation of smoothened signaling pathway. Located in cytosol and nucleoplasm.

Source: NCBI Gene 51174 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 76 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• Cancer dependency (DepMap): dependent in 37.1% of screened cell lines
• MANE Select transcript: NM_016261

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16811
Approved symbol	TUBD1
Name	tubulin delta 1
Location	17q23.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12709, TUBD
Ensembl gene	ENSG00000108423
Ensembl biotype	protein_coding
OMIM	607344
Entrez	51174

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 16 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000325752, ENST00000340993, ENST00000346141, ENST00000376094, ENST00000394239, ENST00000539018, ENST00000587476, ENST00000588009, ENST00000588706, ENST00000590498, ENST00000591548, ENST00000591611, ENST00000592145, ENST00000592426, ENST00000593110, ENST00000613721, ENST00000850582, ENST00000893312, ENST00000893313, ENST00000934482, ENST00000934483, ENST00000934484, ENST00000934485

RefSeq mRNA: 6 — MANE Select: NM_016261 NM_001193609, NM_001193610, NM_001193611, NM_001193612, NM_001193613, NM_016261

CCDS: CCDS11620, CCDS54151, CCDS54152, CCDS54153, CCDS54154

Canonical transcript exons

ENST00000325752 — 9 exons

Exon	Start	End
ENSE00002879268	59892697	59892943
ENSE00003469790	59890831	59891041
ENSE00003471418	59886083	59886230
ENSE00003503585	59866609	59866749
ENSE00003543879	59874539	59874703
ENSE00003616093	59878103	59878334
ENSE00003659145	59880894	59881110
ENSE00003845137	59859479	59860424
ENSE00004282219	59863664	59863847

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 96.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.6077 / max 169.1686, expressed in 1486 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167351	6.8705	1157
167350	3.7372	916

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.85	gold quality
oocyte	CL:0000023	95.83	gold quality
buccal mucosa cell	CL:0002336	91.43	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.94	gold quality
lower esophagus mucosa	UBERON:0035834	83.54	gold quality
colonic epithelium	UBERON:0000397	82.90	gold quality
ventricular zone	UBERON:0003053	82.82	gold quality
esophagus mucosa	UBERON:0002469	81.83	gold quality
body of pancreas	UBERON:0001150	81.67	gold quality
calcaneal tendon	UBERON:0003701	81.35	gold quality
granulocyte	CL:0000094	80.84	gold quality
tonsil	UBERON:0002372	80.60	gold quality
left ovary	UBERON:0002119	80.51	gold quality
vagina	UBERON:0000996	80.32	gold quality
hindlimb stylopod muscle	UBERON:0004252	80.19	gold quality
pancreas	UBERON:0001264	80.11	gold quality
esophagus	UBERON:0001043	79.97	gold quality
muscle layer of sigmoid colon	UBERON:0035805	79.89	gold quality
endocervix	UBERON:0000458	79.76	gold quality
ovary	UBERON:0000992	79.70	gold quality
right ovary	UBERON:0002118	79.59	gold quality
ectocervix	UBERON:0012249	79.46	gold quality
islet of Langerhans	UBERON:0000006	79.33	gold quality
minor salivary gland	UBERON:0001830	79.33	gold quality
amniotic fluid	UBERON:0000173	79.28	gold quality
right lobe of thyroid gland	UBERON:0001119	79.23	gold quality
descending thoracic aorta	UBERON:0002345	79.08	gold quality
body of uterus	UBERON:0009853	79.02	gold quality
right coronary artery	UBERON:0001625	79.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting TUBD1, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-3945	98.68	64.21	553
HSA-MIR-532-5P	98.43	67.53	760
HSA-MIR-4469	97.93	65.81	1319
HSA-MIR-3137	97.26	66.78	761
HSA-MIR-134-3P	96.83	66.22	1001
HSA-MIR-4296	96.35	63.55	1233
HSA-MIR-203A-5P	96.33	65.03	714
HSA-MIR-874-3P	95.02	65.66	806

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 37.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• our data suggest that TUBD1 mRNA isoform expression profile in peripheral blood could be an accessible biomarker for predicting the risk for diabetic retinopathy development. (PMID:28137601)
• Here, the authors report that centrioles in delta-tubulin and epsilon-tubulin null mutant human cells lack triplet microtubules and fail to undergo centriole maturation. (PMID:28906251)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tubd1	ENSDARG00000058219
mus_musculus	Tubd1	ENSMUSG00000020513
rattus_norvegicus	Tubd1	ENSRNOG00000053309

Paralogs (23): TUBG2 (ENSG00000037042), TUBE1 (ENSG00000074935), TUBA3D (ENSG00000075886), TUBB1 (ENSG00000101162), TUBB4A (ENSG00000104833), TUBA1B (ENSG00000123416), TUBA4A (ENSG00000127824), TUBG1 (ENSG00000131462), TUBB2A (ENSG00000137267), TUBB2B (ENSG00000137285), TUBA3E (ENSG00000152086), TUBA1A (ENSG00000167552), TUBA1C (ENSG00000167553), TUBB8B (ENSG00000173213), TUBB6 (ENSG00000176014), TUBAL3 (ENSG00000178462), TUBA8 (ENSG00000183785), TUBB4B (ENSG00000188229), TUBB (ENSG00000196230), TUBA3C (ENSG00000198033), TUBA4B (ENSG00000243910), TUBB3 (ENSG00000258947), TUBB8 (ENSG00000261456)

Protein

Protein identifiers

Tubulin delta chain — Q9UJT1 (reviewed: Q9UJT1)

Alternative names: Delta-tubulin

All UniProt accessions (5): Q9UJT1, K7EKE2, K7EMW6, K7EPQ0, K7EQN9

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a positive regulator of hedgehog signaling and regulates ciliary function.

Subunit / interactions. Found in a complex with TEDC1, TEDC2, TUBE1 and TUBD1.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cell projection. Cilium.

Similarity. Belongs to the tubulin family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9UJT1-1	1	yes
Q9UJT1-2	2
Q9UJT1-3	3
Q9UJT1-4	4
Q9UJT1-5	5
Q9UJT1-6	6

RefSeq proteins (6): NP_001180538, NP_001180539, NP_001180540, NP_001180541, NP_001180542, NP_057345* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000217	Tubulin	Family
IPR002967	Delta_tubulin	Family
IPR003008	Tubulin_FtsZ_GTPase	Domain
IPR008280	Tub_FtsZ_C	Homologous_superfamily
IPR017975	Tubulin_CS	Conserved_site
IPR023123	Tubulin_C	Homologous_superfamily
IPR036525	Tubulin/FtsZ_GTPase_sf	Homologous_superfamily

Pfam: PF00091

UniProt features (11 total): splice variant 5, sequence conflict 3, chain 1, binding site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJT1-F1	90.90	0.75

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 143–149

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 141 (showing top): TGCGCANK_UNKNOWN, GOCC_MICROTUBULE_ORGANIZING_CENTER, IRF7_01, WANG_LMO4_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, FISCHER_G2_M_CELL_CYCLE, IRF1_Q6, WTGAAAT_UNKNOWN, GOCC_CENTROSOME, GOBP_MITOTIC_CELL_CYCLE, GOBP_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY, GOBP_SMOOTHENED_SIGNALING_PATHWAY, FISCHER_DREAM_TARGETS, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY

GO Biological Process (5): microtubule cytoskeleton organization (GO:0000226), mitotic cell cycle (GO:0000278), cell projection organization (GO:0030030), positive regulation of smoothened signaling pathway (GO:0045880), microtubule-based process (GO:0007017)

GO Molecular Function (4): structural constituent of cytoskeleton (GO:0005200), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (11): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centriole (GO:0005814), cytosol (GO:0005829), microtubule (GO:0005874), cilium (GO:0005929), nucleus (GO:0005634), cytoskeleton (GO:0005856), microtubule cytoskeleton (GO:0015630), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoskeleton organization	2
cytoskeleton	2
intracellular membraneless organelle	2
microtubule-based process	1
cell cycle	1
mitotic nuclear division	1
cellular component organization	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
positive regulation of signal transduction	1
cellular process	1
structural molecule activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
microtubule organizing center	1
cytoplasm	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1362 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TUBD1	TEDC2	Q7L2K0	638
TUBD1	TUBE1	Q9UJT0	576
TUBD1	SASS6	Q6UVJ0	546
TUBD1	CPAP	Q9HC77	545
TUBD1	CEP135	Q66GS9	490
TUBD1	POC5	Q8NA72	480
TUBD1	CEP44	Q9C0F1	475
TUBD1	POC1B	Q8TC44	471
TUBD1	DRG1	Q9Y295	458
TUBD1	DRC2	Q8IXS2	449
TUBD1	TEDC1	Q86SX3	448
TUBD1	PTRH2	Q9Y3E5	447
TUBD1	PLK4	O00444	443
TUBD1	TUBGCP2	Q9BSJ2	441
TUBD1	CEP120	Q8N960	436

IntAct

22 interactions, top by confidence:

A	B	Type	Score
CCT2	TXNDC9	psi-mi:“MI:0914”(association)	0.730
CCT2	PPP6C	psi-mi:“MI:0914”(association)	0.640
CCT3	TXNDC9	psi-mi:“MI:0914”(association)	0.640
CCT5	TXNDC9	psi-mi:“MI:0914”(association)	0.640
CCT7	TXNDC9	psi-mi:“MI:0914”(association)	0.640
TUBE1	TEDC2	psi-mi:“MI:0914”(association)	0.530
CCT7	PEX7	psi-mi:“MI:0914”(association)	0.530
TUBD1	CCT6B	psi-mi:“MI:0915”(physical association)	0.500
TUBD1	CCT6B	psi-mi:“MI:0914”(association)	0.500
CCT4	PDCD5	psi-mi:“MI:0914”(association)	0.350
CCT7	PDCD5	psi-mi:“MI:0914”(association)	0.350
CCT2	WDR91	psi-mi:“MI:0914”(association)	0.350
FGL1	DNM1L	psi-mi:“MI:0914”(association)	0.350
CCT5	TUBAL3	psi-mi:“MI:0914”(association)	0.350
CCT3	TUBAL3	psi-mi:“MI:0914”(association)	0.350
CCT7	WDR46	psi-mi:“MI:0914”(association)	0.350
PDCL3	POTEF	psi-mi:“MI:0914”(association)	0.350
TUBD1	FLOT1	psi-mi:“MI:0914”(association)	0.350

BioGRID (37): TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-RNA), TUBD1 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS), TUBD1 (Affinity Capture-MS)

ESM2 similar proteins: A0A3L7I2I8, A2AGL3, A5PJM5, B0LPN4, E9Q401, F1LNJ2, O60733, O75643, P30957, P59016, P97570, P97819, Q05B56, Q08CZ0, Q0VEJ0, Q12980, Q13889, Q15413, Q2HJ18, Q2KIX2, Q2KJA6, Q3UBZ5, Q4R678, Q4R7T7, Q561R7, Q58EN8, Q5RCP7, Q5TFE4, Q5ZJV4, Q5ZKK2, Q63616, Q66H63, Q66HX8, Q6DIM3, Q6P4T2, Q7Z3V4, Q8HZV4, Q8K114, Q8TAP6, Q8VD76

Diamond homologs: O49068, P23257, P23258, P23330, P32348, P34785, P34786, P34787, P38557, P38558, P42271, P53377, P54402, P54403, P54404, P54405, P83887, P83888, P86221, P90548, Q0VCD2, Q32KM1, Q39582, Q41807, Q41808, Q41874, Q4R7T7, Q55AR3, Q6DIM3, Q75A43, Q7Z9Z2, Q8HZV4, Q8SRD2, Q8VCK3, Q9GKK5, Q9NRH3, Q9R1K7, Q9UJT1, Q9XFG3, Q9Y882

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
NUMA1	up-regulates	TUBD1	binding
“vincaleukoblastine sulfate”	“down-regulates activity”	TUBD1	“chemical inhibition”
TUBD1	up-regulates	Microtubule_polimerization
KATNAL2	“down-regulates quantity by destabilization”	TUBD1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 20 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 tubulin folding intermediates by CCT/TriC	7	227.8×	1e-14
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	7	219.6×	1e-14
Prefoldin mediated transfer of substrate to CCT/TriC	6	181.8×	5e-12
Chaperonin-mediated protein folding	7	161.8×	1e-13
Protein folding	7	139.8×	3e-13
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	6	138.7×	2e-11
Association of TriC/CCT with target proteins during biosynthesis	6	135.2×	2e-11
Cargo trafficking to the periciliary membrane	5	95.5×	1e-08

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of telomere maintenance via telomerase	5	183.2×	1e-09
binding of sperm to zona pellucida	5	105.3×	2e-08
protein folding	7	36.2×	1e-08
protein stabilization	6	20.1×	5e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	47
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
815942	GRCh37/hg19 17q23.1(chr17:57616400-57986918)x1	Likely pathogenic

SpliceAI

1490 predictions. Top by Δscore:

Variant	Effect	Δscore
17:59863843:TCCCT:T	acceptor_gain	1.0000
17:59863844:CCCT:C	acceptor_gain	1.0000
17:59863844:CCCTC:C	acceptor_gain	1.0000
17:59863845:CCTC:C	acceptor_gain	1.0000
17:59863846:CT:C	acceptor_gain	1.0000
17:59863848:C:CC	acceptor_gain	1.0000
17:59878105:A:AC	donor_gain	1.0000
17:59878164:T:TA	donor_gain	1.0000
17:59878165:C:A	donor_gain	1.0000
17:59881054:T:TA	donor_gain	1.0000
17:59881113:A:C	acceptor_gain	1.0000
17:59886226:TGGAA:T	acceptor_gain	1.0000
17:59886231:C:CC	acceptor_gain	1.0000
17:59860422:GCTC:G	acceptor_loss	0.9900
17:59860423:CT:C	acceptor_gain	0.9900
17:59860423:CTCTG:C	acceptor_loss	0.9900
17:59860424:TCT:T	acceptor_loss	0.9900
17:59860425:C:CC	acceptor_gain	0.9900
17:59860425:C:CG	acceptor_loss	0.9900
17:59860428:G:C	acceptor_gain	0.9900
17:59860428:G:GC	acceptor_gain	0.9900
17:59863662:A:AC	donor_gain	0.9900
17:59863663:C:CT	donor_gain	0.9900
17:59863663:CT:C	donor_gain	0.9900
17:59863735:G:T	donor_gain	0.9900
17:59863846:CTCTA:C	acceptor_loss	0.9900
17:59863848:CTA:C	acceptor_loss	0.9900
17:59863849:T:A	acceptor_loss	0.9900
17:59863853:G:GC	acceptor_gain	0.9900
17:59863860:CAAGA:C	acceptor_loss	0.9900

AlphaMissense

3021 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:59881008:A:C	S141R	0.998
17:59881008:A:T	S141R	0.998
17:59881010:T:G	S141R	0.998
17:59886093:A:G	W104R	0.998
17:59886093:A:T	W104R	0.998
17:59878314:G:C	N186K	0.997
17:59878314:G:T	N186K	0.997
17:59886091:C:A	W104C	0.997
17:59886091:C:G	W104C	0.997
17:59886083:C:T	G107D	0.996
17:59863686:C:G	A413P	0.995
17:59880985:C:T	G149E	0.995
17:59878327:A:T	V182D	0.994
17:59880991:C:T	G147E	0.994
17:59881009:C:A	S141I	0.994
17:59860407:T:G	Y426S	0.993
17:59860408:A:C	Y426D	0.993
17:59881001:C:A	G144W	0.993
17:59886089:G:T	A105E	0.993
17:59886094:G:C	N103K	0.993
17:59886094:G:T	N103K	0.993
17:59880989:A:G	S148P	0.992
17:59886092:C:G	W104S	0.992
17:59886204:C:G	D67H	0.992
17:59890977:C:A	G9V	0.992
17:59860377:A:G	F436S	0.991
17:59860408:A:G	Y426H	0.991
17:59863685:G:T	A413E	0.991
17:59878300:A:G	L191P	0.991
17:59878316:T:A	N186Y	0.991

dbSNP variants (sampled 300 via entrez): RS1000021445 (17:59891985 A>T), RS1000207163 (17:59869174 G>A,C), RS1000312990 (17:59862850 G>A,C), RS1000333130 (17:59874639 A>C,G), RS1000336935 (17:59893558 G>A), RS1000337244 (17:59875039 T>A), RS1000389605 (17:59875296 C>G,T), RS1000447024 (17:59887318 G>A), RS1000477988 (17:59891551 T>C), RS1000505879 (17:59889292 G>A), RS1000525817 (17:59886658 G>C,T), RS1000582409 (17:59886427 A>G), RS1000711226 (17:59880751 C>T), RS1000767264 (17:59888991 G>A,C), RS1000932073 (17:59870756 T>G)

Disease associations

OMIM: gene MIM:607344 | disease phenotypes: MIM:603596

GenCC curated gene-disease

Mondo (1): polydactyly (MONDO:0021003)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0010442	Polydactyly

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST001725_56	Inflammatory bowel disease	9.000000e-13
GCST001762_939	Obesity-related traits	3.000000e-06
GCST004132_90	Crohn’s disease	1.000000e-06
GCST004617_125	Eosinophil percentage of granulocytes	2.000000e-09
GCST004621_194	Red cell distribution width	2.000000e-15
GCST005977_17	Monocyte count	1.000000e-12
GCST006804_47	Red cell distribution width	1.000000e-13
GCST007267_242	Systolic blood pressure	7.000000e-10
GCST007576_359	Chronotype	1.000000e-09
GCST007615_77	C-reactive protein levels	7.000000e-08
GCST010083_197	Hemoglobin levels	3.000000e-18
GCST90002381_538	Eosinophil count	6.000000e-14
GCST90002396_669	Mean reticulocyte volume	1.000000e-09
GCST90002403_365	Red blood cell count	1.000000e-13
GCST90002404_170	Red cell distribution width	3.000000e-33

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0007996	eosinophil percentage of granulocytes
EFO:0009188	Red cell distribution width
EFO:0005091	monocyte count
EFO:0006335	systolic blood pressure
EFO:0008328	chronotype measurement
EFO:0004458	C-reactive protein measurement
EFO:0004509	hemoglobin measurement
EFO:0004842	eosinophil count
EFO:0010701	mean reticulocyte volume
EFO:0004305	erythrocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D017689	Polydactyly	C05.660.585.600; C16.131.621.585.600

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Cyclosporine	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression	1
bisphenol S	increases expression	1
Bortezomib	increases expression	1
Temozolomide	increases expression	1
Vorinostat	increases expression	1
Leflunomide	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Cisplatin	decreases expression	1
Coumestrol	affects cotreatment, increases expression	1
Estradiol	increases expression	1
Fluorouracil	affects response to substance	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects cotreatment, increases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Methotrexate	increases expression	1
Quercetin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00001404	Not specified	COMPLETED	Phenotype and Etiology of Pallister-Hall Syndrome
NCT06239064	Not specified	ACTIVE_NOT_RECRUITING	Early Genetic Identification of Obesity