TTLL4

Summary

TTLL4 (tubulin tyrosine ligase like 4, HGNC:28976) is a protein-coding gene on chromosome 2q35, encoding Tubulin monoglutamylase TTLL4 (Q14679). Monoglutamylase which modifies both tubulin and non-tubulin proteins, adding a single glutamate on the gamma-carboxyl group of specific glutamate residues of target proteins.

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within regulation of blastocyst development. Predicted to be located in cytosol. Predicted to be active in ciliary basal body.

Source: NCBI Gene 9654 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 157 total
• MANE Select transcript: NM_014640

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28976
Approved symbol	TTLL4
Name	tubulin tyrosine ligase like 4
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0173
Ensembl gene	ENSG00000135912
Ensembl biotype	protein_coding
OMIM	618738
Entrez	9654

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 21 protein_coding, 9 retained_intron, 2 nonsense_mediated_decay

ENST00000392102, ENST00000415717, ENST00000417196, ENST00000417855, ENST00000424644, ENST00000434241, ENST00000436668, ENST00000437755, ENST00000442769, ENST00000448224, ENST00000457313, ENST00000461181, ENST00000465558, ENST00000467841, ENST00000472527, ENST00000475950, ENST00000480472, ENST00000480929, ENST00000491899, ENST00000494428, ENST00000863359, ENST00000863360, ENST00000863361, ENST00000863362, ENST00000863363, ENST00000917349, ENST00000917350, ENST00000917351, ENST00000917352, ENST00000917353, ENST00000917354, ENST00000958172

RefSeq mRNA: 1 — MANE Select: NM_014640 NM_014640

CCDS: CCDS2422

Canonical transcript exons

ENST00000392102 — 20 exons

Exon	Start	End
ENSE00000922311	218740058	218740167
ENSE00000922312	218740521	218740584
ENSE00000922313	218745109	218745233
ENSE00000922314	218745691	218745801
ENSE00000922324	218752763	218752973
ENSE00000922325	218753115	218753185
ENSE00001510708	218754134	218755416
ENSE00001510709	218737579	218739163
ENSE00001510710	218727269	218727347
ENSE00001510712	218710835	218711037
ENSE00003506572	218747597	218747725
ENSE00003519640	218747290	218747372
ENSE00003538530	218753584	218753669
ENSE00003557432	218748105	218748227
ENSE00003560895	218751704	218751806
ENSE00003568129	218746155	218746231
ENSE00003589579	218750009	218750146
ENSE00003632128	218748836	218748934
ENSE00003645234	218749253	218749387
ENSE00003691390	218747003	218747194

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 96.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.7245 / max 322.5290, expressed in 1796 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25372	13.4379	1750
25374	3.3645	1364
25373	0.7290	475
25380	0.4821	114
25371	0.3675	192
25384	0.2889	95
25379	0.2687	57
25386	0.2035	87
25387	0.1875	92
25381	0.1507	58

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	96.73	gold quality
right testis	UBERON:0004534	96.60	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.69	gold quality
tibial nerve	UBERON:0001323	94.46	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.05	gold quality
testis	UBERON:0000473	93.76	gold quality
pigmented layer of retina	UBERON:0001782	93.43	gold quality
retina	UBERON:0000966	93.41	gold quality
ventricular zone	UBERON:0003053	93.20	gold quality
lower esophagus mucosa	UBERON:0035834	92.12	gold quality
right uterine tube	UBERON:0001302	92.10	gold quality
adenohypophysis	UBERON:0002196	91.24	gold quality
spinal cord	UBERON:0002240	91.12	gold quality
skin of abdomen	UBERON:0001416	90.54	gold quality
granulocyte	CL:0000094	90.41	gold quality
minor salivary gland	UBERON:0001830	90.09	gold quality
sural nerve	UBERON:0015488	89.87	gold quality
pituitary gland	UBERON:0000007	89.70	gold quality
skin of leg	UBERON:0001511	89.68	gold quality
right adrenal gland cortex	UBERON:0035827	89.58	gold quality
mucosa of transverse colon	UBERON:0004991	89.31	gold quality
caudate nucleus	UBERON:0001873	89.29	gold quality
ganglionic eminence	UBERON:0004023	89.28	gold quality
monocyte	CL:0000576	89.24	gold quality
upper lobe of left lung	UBERON:0008952	89.20	gold quality
left adrenal gland cortex	UBERON:0035825	89.14	gold quality
right frontal lobe	UBERON:0002810	89.09	gold quality
putamen	UBERON:0001874	89.03	gold quality
leukocyte	CL:0000738	88.97	gold quality
right adrenal gland	UBERON:0001233	88.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.03
E-GEOD-99795	no	63.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting TTLL4, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-520G-5P	99.99	66.76	658
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-8068	99.98	73.85	2376
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4713-5P	99.78	67.80	1794

Literature-anchored findings (GeneRIF, showing 2)

• Characterization of another human tubulin tyrosine ligase-like gene family member (PMID:11054573)
• Tubulin Tyrosine Ligase Like 4 (TTLL4) overexpression in breast cancer cells is associated with brain metastasis and alters exosome biogenesis. (PMID:32998758)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ttll4	ENSDARG00000078935
mus_musculus	Ttll4	ENSMUSG00000033257
rattus_norvegicus	Ttll4	ENSRNOG00000017129
drosophila_melanogaster	TTLL4A	FBGN0026147
drosophila_melanogaster	TTLL4B	FBGN0031574
caenorhabditis_elegans		WBGENE00014232

Paralogs (12): TTLL1 (ENSG00000100271), TTLL12 (ENSG00000100304), TTLL2 (ENSG00000120440), TTLL9 (ENSG00000131044), TTLL7 (ENSG00000137941), TTLL8 (ENSG00000138892), TTLL10 (ENSG00000162571), TTLL6 (ENSG00000170703), TTLL11 (ENSG00000175764), KPRP (ENSG00000203786), TTLL13 (ENSG00000213471), TTLL3 (ENSG00000214021)

Protein

Protein identifiers

Tubulin monoglutamylase TTLL4 — Q14679 (reviewed: Q14679)

Alternative names: Protein monoglutamylase TTLL4, Tubulin–tyrosine ligase-like protein 4

All UniProt accessions (11): C9J3I1, C9J982, C9JB60, E7EX20, E9PH58, Q14679, H7BZY4, H7C1F7, H7C2S3, H7C421, H7C470

UniProt curated annotations — full annotation on UniProt →

Function. Monoglutamylase which modifies both tubulin and non-tubulin proteins, adding a single glutamate on the gamma-carboxyl group of specific glutamate residues of target proteins. Involved in the side-chain initiation step of the polyglutamylation reaction but not in the elongation step. Preferentially modifies beta-tail tubulin over the alpha-tubulin. Monoglutamylates nucleosome assembly proteins NAP1L1 and NAP1L4. Monoglutamylates nucleotidyltransferase CGAS, leading to inhibition of CGAS catalytic activity, thereby preventing antiviral defense function. Involved in KLF4 glutamylation which impedes its ubiquitination, thereby leading to somatic cell reprogramming, pluripotency maintenance and embryogenesis.

Subcellular location. Cytoplasm. Cell projection. Cilium. Cytoskeleton. Cilium basal body.

Domain organisation. The flexible c-MTBD (cationic microtubule binding domain) region mediates binding to microtubules. It is positively charged and becomes ordered when bound to microtubules: it interacts with a negatively charged patch on tubulin. The presence of positive charges in the c-MTBD region is essential for proper binding. Arg-727 is the main determinant for regioselectivity, which segregates between initiases and elongases in all tubulin–tyrosine ligase family. A glutamine residue at this position is found in elongases TTLL6, TTLL9, TTLL11, TTLL13, TTLL10 and favors glutamate-chain elongation, whereas an arginine residue is found in initiases TTLL2, TTLL4, TTLL5, TTLL3, TTLL8 and favors initiation.

Similarity. Belongs to the tubulin–tyrosine ligase family.

RefSeq proteins (1): NP_055455* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004344	TTL/TTLL_fam	Family

Pfam: PF03133

Catalyzed reactions (Rhea), 1 shown:

• L-glutamyl-[protein] + L-glutamate + ATP = gamma-L-glutamyl-L-glutamyl-[protein] + ADP + phosphate + H(+) (RHEA:60144)

UniProt features (39 total): binding site 15, sequence variant 8, compositionally biased region 6, region of interest 5, chain 1, domain 1, site 1, modified residue 1, mutagenesis site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5T6X	X-RAY DIFFRACTION	1.69

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14679-F1	59.09	0.35

Functional residue map

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

Catalytic / active sites (1): 727 (essential for specifying initiation versus elongation step of the polyglutamylase activity)

Ligand- & substrate-binding residues (15): 721; 727–728; 727; 749–752; 762–764; 788; 809–810; 811; 812; 833; 893; 906 …

Post-translational modifications (1): 691

Mutagenesis-validated functional residues (1):

Position	Phenotype
978–981	decreased binding to microtubules and polyglutamylase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8955332	Carboxyterminal post-translational modifications of tubulin

MSigDB gene sets: 177 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MORF_BRCA1, YANG_BREAST_CANCER_ESR1_LASER_DN, FRASOR_RESPONSE_TO_SERM_OR_FULVESTRANT_DN, GGAMTNNNNNTCCY_UNKNOWN, GOCC_MICROTUBULE_ORGANIZING_CENTER, MODULE_205, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, SMID_BREAST_CANCER_LUMINAL_A_DN, GOBP_BLASTOCYST_DEVELOPMENT, LIAO_METASTASIS, CYTAGCAAY_UNKNOWN, GOBP_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP

GO Biological Process (5): microtubule cytoskeleton organization (GO:0000226), protein polyglutamylation (GO:0018095), peptidyl-glutamic acid modification (GO:0018200), regulation of blastocyst development (GO:0120222), protein modification process (GO:0036211)

GO Molecular Function (8): ATP binding (GO:0005524), tubulin binding (GO:0015631), metal ion binding (GO:0046872), protein-glutamic acid ligase activity (GO:0070739), tubulin-glutamic acid ligase activity (GO:0070740), protein-glutamic acid ligase activity, initiating (GO:0106437), nucleotide binding (GO:0000166), ligase activity (GO:0016874)

GO Cellular Component (8): cytosol (GO:0005829), microtubule (GO:0005874), ciliary basal body (GO:0036064), 9+0 non-motile cilium (GO:0097731), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

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
protein-glutamic acid ligase activity	2
cytoskeleton organization	1
microtubule-based process	1
peptidyl-glutamic acid modification	1
peptidyl-amino acid modification	1
blastocyst development	1
regulation of developmental process	1
protein metabolic process	1
macromolecule modification	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cytoskeletal protein binding	1
cation binding	1
acid-amino acid ligase activity	1
catalytic activity, acting on a protein	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
cytoplasm	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
microtubule organizing center	1
cilium	1
non-motile cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

676 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TTLL4	AGBL4	Q5VU57	807
TTLL4	TTLL12	Q14166	709
TTLL4	AGBL5	Q8NDL9	684
TTLL4	TTL	Q8NG68	570
TTLL4	TTLL5	Q6EMB2	570
TTLL4	ATAT1	Q5SQI0	554
TTLL4	CPXM2	Q8N436	530
TTLL4	TTLL10	Q6ZVT0	515
TTLL4	AGTPBP1	Q9UPW5	479
TTLL4	SPAST	Q9UBP0	471
TTLL4	TTLL1	O95922	451
TTLL4	TTLL6	Q8N841	438
TTLL4	KIF17	Q9P2E2	433
TTLL4	TTLL11	Q8NHH1	432
TTLL4	SVBP	Q8N300	426

IntAct

22 interactions, top by confidence:

A	B	Type	Score
MAPK8IP1	MAPK8	psi-mi:“MI:0914”(association)	0.770
MAPK8IP1	HOXC8	psi-mi:“MI:0914”(association)	0.530
N	NOP56	psi-mi:“MI:0914”(association)	0.530
AHSP	TTLL4	psi-mi:“MI:0914”(association)	0.530
AGTPBP1	TTLL4	psi-mi:“MI:0915”(physical association)	0.400
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
LZTS2	MYO9A	psi-mi:“MI:0914”(association)	0.350
VTN	HAT1	psi-mi:“MI:0914”(association)	0.350
PSME3	C11orf98	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
TTLL4	ANKRD28	psi-mi:“MI:0914”(association)	0.350
AHSP	RP2	psi-mi:“MI:0914”(association)	0.350
MAPK8IP1	NEDD4	psi-mi:“MI:0914”(association)	0.350
MAPK8IP2	SEMG1	psi-mi:“MI:0914”(association)	0.350
AHSP	GMFB	psi-mi:“MI:0914”(association)	0.350
FTL		psi-mi:“MI:0914”(association)	0.350
PCM1	CCDC66	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (36): TTLL4 (Affinity Capture-RNA), TTLL4 (Affinity Capture-MS), TTLL4 (Proximity Label-MS), TTLL4 (Affinity Capture-MS), TTLL4 (Affinity Capture-MS), TTLL4 (Affinity Capture-MS), TTLL4 (Affinity Capture-MS), TTLL4 (Affinity Capture-MS), TTLL4 (Affinity Capture-MS), TTLL4 (Affinity Capture-RNA), TTLL4 (Affinity Capture-MS), TTLL4 (Affinity Capture-MS), TTLL4 (Affinity Capture-MS), TTLL4 (Affinity Capture-RNA), TTLL4 (Affinity Capture-MS)

ESM2 similar proteins: A0JM98, A1L1H3, A4Q9E8, A4Q9F0, A4Q9F6, A6NNM8, A7MBJ2, A8CVX7, D3ZF42, O54928, O75159, O88866, P51957, P57058, P59110, Q08D35, Q0P4M4, Q14679, Q29RN6, Q5NC05, Q5QJC4, Q5R978, Q5RHD1, Q5SUS0, Q5T7B8, Q63679, Q68UT7, Q6EEF3, Q6EMB2, Q6GQJ2, Q6IE81, Q6IE82, Q6IRU7, Q6NWW5, Q6P1H6, Q6P7W0, Q6PCM1, Q6PJP8, Q6ZPI0, Q7TP65

Diamond homologs: A2APC3, A4Q9E4, A4Q9E5, A4Q9E8, A4Q9F0, A4Q9F1, A4Q9F4, A4Q9F6, A6NNM8, A6PVC2, A8CVX7, A8X9V4, B2GUB3, E9P886, F7E540, H2KZM9, O95922, P38160, P38584, Q09647, Q0VC71, Q14679, Q1ECV4, Q23AS2, Q23K29, Q23MT7, Q23SI8, Q3SXZ7, Q3SZH6, Q564U4, Q5PPI9, Q5R978, Q641W7, Q6EEF3, Q6EMB2, Q6ZT98, Q80UG8, Q8CHB8, Q8N841, Q8NG68

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	127
Likely benign	7
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2952 predictions. Top by Δscore:

Variant	Effect	Δscore
2:218740163:GGAGG:G	donor_gain	1.0000
2:218740164:GAGG:G	donor_gain	1.0000
2:218740164:GAGGG:G	donor_gain	1.0000
2:218740166:GG:G	donor_gain	1.0000
2:218740167:GG:G	donor_gain	1.0000
2:218740168:G:GG	donor_gain	1.0000
2:218740168:GTGA:G	donor_loss	1.0000
2:218740169:T:A	donor_loss	1.0000
2:218740517:CTA:C	acceptor_loss	1.0000
2:218740518:TA:T	acceptor_loss	1.0000
2:218740519:A:AG	acceptor_gain	1.0000
2:218740520:G:A	acceptor_loss	1.0000
2:218740520:G:GG	acceptor_gain	1.0000
2:218740520:GGA:G	acceptor_gain	1.0000
2:218740582:TAGG:T	donor_loss	1.0000
2:218740583:AGGTA:A	donor_loss	1.0000
2:218740584:GGT:G	donor_loss	1.0000
2:218740585:G:T	donor_loss	1.0000
2:218740586:T:G	donor_loss	1.0000
2:218745680:A:AG	acceptor_gain	1.0000
2:218745800:AA:A	donor_gain	1.0000
2:218745802:G:GG	donor_gain	1.0000
2:218747002:GCTAA:G	acceptor_gain	1.0000
2:218747191:GCCA:G	donor_gain	1.0000
2:218747195:G:GG	donor_gain	1.0000
2:218747288:A:AG	acceptor_gain	1.0000
2:218747289:G:GG	acceptor_gain	1.0000
2:218747289:GCCA:G	acceptor_gain	1.0000
2:218747720:TTGC:T	donor_gain	1.0000
2:218747726:G:GG	donor_gain	1.0000

AlphaMissense

7879 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:218745729:T:A	W609R	1.000
2:218745729:T:C	W609R	1.000
2:218746178:T:A	W641R	1.000
2:218746178:T:C	W641R	1.000
2:218747037:G:C	R670T	1.000
2:218747039:A:C	K671Q	1.000
2:218747041:G:C	K671N	1.000
2:218747041:G:T	K671N	1.000
2:218747180:T:A	W718R	1.000
2:218747180:T:C	W718R	1.000
2:218748156:C:A	N810K	1.000
2:218748156:C:G	N810K	1.000
2:218749330:A:T	D893V	1.000
2:218745760:T:A	V619D	0.999
2:218746166:T:A	W637R	0.999
2:218746166:T:C	W637R	0.999
2:218746180:G:C	W641C	0.999
2:218746180:G:T	W641C	0.999
2:218747008:C:A	N660K	0.999
2:218747008:C:G	N660K	0.999
2:218747009:C:G	H661D	0.999
2:218747024:T:C	F666L	0.999
2:218747026:C:A	F666L	0.999
2:218747026:C:G	F666L	0.999
2:218747033:G:A	G669R	0.999
2:218747033:G:C	G669R	0.999
2:218747033:G:T	G669W	0.999
2:218747034:G:A	G669E	0.999
2:218747037:G:T	R670M	0.999
2:218747038:G:C	R670S	0.999

dbSNP variants (sampled 300 via entrez): RS1000142178 (2:218712547 C>T), RS1000152674 (2:218736302 T>C), RS1000167682 (2:218752078 T>A), RS1000266793 (2:218759209 C>T), RS1000289072 (2:218743015 G>A), RS1000298137 (2:218744839 C>T), RS1000375787 (2:218756813 A>C,T), RS1000431865 (2:218749898 T>G), RS1000510590 (2:218713585 G>A), RS1000571296 (2:218718368 ATTTTC>A), RS1000597591 (2:218709025 G>A), RS1000630851 (2:218746676 G>A,C,T), RS1000661829 (2:218724715 C>CTGCCATTT), RS1000708056 (2:218751522 A>G,T), RS1000781731 (2:218728163 T>C,G)

Disease associations

OMIM: gene MIM:618738 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001664_1	Amyotrophic lateral sclerosis	6.000000e-07
GCST002702_116	Height	2.000000e-08
GCST006661_114	Male-pattern baldness	2.000000e-16
GCST010083_351	Hemoglobin levels	1.000000e-15
GCST90020025_1749	Waist-to-hip ratio adjusted for BMI	2.000000e-10
GCST90020027_590	Waist-hip index	9.000000e-11
GCST90020029_984	Waist circumference adjusted for body mass index	3.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	2
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	increases methylation	1
hydroxyhydroquinone	increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	increases expression	1
Caffeine	increases phosphorylation	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Formaldehyde	decreases expression	1
Tretinoin	increases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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