SEPTIN14

Summary

SEPTIN14 (septin 14, HGNC:33280) is a protein-coding gene on chromosome 7p11.2, encoding Septin-14 (Q6ZU15). Filament-forming cytoskeletal GTPase.

SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).

Source: NCBI Gene 346288 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 82 total
• MANE Select transcript: NM_207366

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33280
Approved symbol	SEPTIN14
Name	septin 14
Location	7p11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ44060, Septin-14
Ensembl gene	ENSG00000154997
Ensembl biotype	protein_coding
OMIM	612140
Entrez	346288

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000388975, ENST00000477628

RefSeq mRNA: 1 — MANE Select: NM_207366 NM_207366

CCDS: CCDS5519

Canonical transcript exons

ENST00000388975 — 10 exons

Exon	Start	End
ENSE00001318337	55807090	55807258
ENSE00001322761	55819127	55819223
ENSE00001370673	55793540	55796092
ENSE00001559769	55862688	55862752
ENSE00001637631	55834425	55834586
ENSE00001768335	55842942	55843128
ENSE00001783435	55805258	55805390
ENSE00001791209	55844523	55844718
ENSE00003546018	55846517	55846637
ENSE00003671928	55861943	55862011

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 83.99.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0344 / max 20.5082, expressed in 6 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84170	0.0344	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	83.99	gold quality
left testis	UBERON:0004533	83.18	gold quality
testis	UBERON:0000473	83.07	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.80	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.09	gold quality
blood	UBERON:0000178	76.21	gold quality
monocyte	CL:0000576	75.82	gold quality
leukocyte	CL:0000738	74.95	gold quality
thymus	UBERON:0002370	73.12	silver quality
endometrium	UBERON:0001295	70.66	gold quality
adenohypophysis	UBERON:0002196	67.89	gold quality
pituitary gland	UBERON:0000007	67.83	gold quality
right lobe of liver	UBERON:0001114	67.64	gold quality
spleen	UBERON:0002106	66.79	gold quality
cortical plate	UBERON:0005343	65.79	gold quality
quadriceps femoris	UBERON:0001377	65.49	gold quality
ventricular zone	UBERON:0003053	64.72	gold quality
ganglionic eminence	UBERON:0004023	64.61	gold quality
cerebellar vermis	UBERON:0004720	64.61	gold quality
vermiform appendix	UBERON:0001154	64.38	gold quality
body of pancreas	UBERON:0001150	63.70	gold quality
left ovary	UBERON:0002119	63.21	gold quality
esophagus mucosa	UBERON:0002469	63.21	gold quality
calcaneal tendon	UBERON:0003701	63.00	gold quality
right ovary	UBERON:0002118	62.95	gold quality
granulocyte	CL:0000094	62.94	gold quality
islet of Langerhans	UBERON:0000006	62.84	gold quality
primary visual cortex	UBERON:0002436	62.79	gold quality
lower esophagus mucosa	UBERON:0035834	62.62	gold quality
pancreas	UBERON:0001264	62.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

106 targeting SEPTIN14, 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-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-6124	99.87	69.78	3551

Literature-anchored findings (GeneRIF, showing 4)

• SEPT14 maps to 7p11.2 and includes a conserved GTPase domain and a predicted carboxy-terminus coiled-coil domain characteristic of other septins. (PMID:17922164)
• The three SEPT14 SNPs defined a protective haplotype which significantly reduced the risk for Parkinson disease was found to be expressed in the brain. (PMID:27115672)
• Expression and localization of Septin 14 gene and protein in infertile men testis. (PMID:32249155)
• X-ray structure of the metastable SEPT14-SEPT7 coiled coil reveals a hendecad region crucial for heterodimerization. (PMID:37712436)

Cross-species orthologs

25 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:63587	ENSDARG00000017140
danio_rerio	si:ch211-250m6.12	ENSDARG00000025046
danio_rerio		ENSDARG00000030778
danio_rerio		ENSDARG00000039888
danio_rerio	si:dkey-187j14.4	ENSDARG00000053761
danio_rerio	zgc:195077	ENSDARG00000070852
danio_rerio	zgc:172075	ENSDARG00000076146
danio_rerio	si:ch211-285c6.1	ENSDARG00000076257
danio_rerio	si:dkey-201l21.4	ENSDARG00000076398
danio_rerio	zgc:172065	ENSDARG00000078093
danio_rerio	si:ch211-282j17.13	ENSDARG00000086419
danio_rerio	si:dkey-187j14.1	ENSDARG00000087289
danio_rerio	zgc:66473	ENSDARG00000087375
danio_rerio	si:ch211-285c6.4	ENSDARG00000095410
danio_rerio	si:ch73-170d6.2	ENSDARG00000099864
danio_rerio		ENSDARG00000100370
danio_rerio	zgc:171695	ENSDARG00000100858
danio_rerio		ENSDARG00000104895
danio_rerio	si:ch211-282j17.12	ENSDARG00000105145
danio_rerio	si:dkey-88n24.11	ENSDARG00000105367
mus_musculus	Septin14	ENSMUSG00000034219
rattus_norvegicus	Septin14	ENSRNOG00000038495
drosophila_melanogaster	Septin1	FBGN0011710
drosophila_melanogaster	Septin2	FBGN0014029
caenorhabditis_elegans		WBGENE00006795

Paralogs (12): SEPTIN3 (ENSG00000100167), SEPTIN7 (ENSG00000122545), SEPTIN6 (ENSG00000125354), SEPTIN11 (ENSG00000138758), SEPTIN12 (ENSG00000140623), SEPTIN8 (ENSG00000164402), SEPTIN2 (ENSG00000168385), SEPTIN1 (ENSG00000180096), SEPTIN9 (ENSG00000184640), SEPTIN5 (ENSG00000184702), SEPTIN10 (ENSG00000186522), TMEM250 (ENSG00000238227)

Protein

Protein identifiers

Septin-14 — Q6ZU15 (reviewed: Q6ZU15)

All UniProt accessions (1): Q6ZU15

UniProt curated annotations — full annotation on UniProt →

Function. Filament-forming cytoskeletal GTPase. Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development. Plays a role in sperm head formation during spermiogenesis, potentially via facilitating localization of ACTN4 to cell filaments.

Subunit / interactions. Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation. Interacts with ACTN4. Interacts with SEPTIN9. Interacts (via C-terminus) with SEPTIN4.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Axon. Dendrite. Perikaryon. Perinuclear region. Cytoplasmic vesicle. Secretory vesicle. Acrosome.

Tissue specificity. Testis-specific (at protein level).

Similarity. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.

RefSeq proteins (1): NP_997249* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016491	Septin	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030379	G_SEPTIN_dom	Domain

Pfam: PF00735

UniProt features (15 total): binding site 5, region of interest 4, sequence variant 2, chain 1, domain 1, helix 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8SJJ	X-RAY DIFFRACTION	1.78

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZU15-F1	81.91	0.40

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 (5): 249; 264; 59–66; 114; 195–203

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 69 (showing top): GOCC_SECRETORY_GRANULE, GOBP_NEUROGENESIS, GOBP_MALE_GAMETE_GENERATION, GOBP_CYTOKINESIS, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_NEURON_MIGRATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOCC_NEURON_PROJECTION, GOBP_CYTOSKELETON_DEPENDENT_CYTOKINESIS, GOCC_SECRETORY_VESICLE, GOBP_CELL_DIVISION, GOCC_CELL_DIVISION_SITE, GOCC_ACROSOMAL_VESICLE, GOCC_CELL_BODY, GOCC_SOMATODENDRITIC_COMPARTMENT

GO Biological Process (6): neuron migration (GO:0001764), spermatid development (GO:0007286), intracellular protein localization (GO:0008104), cytoskeleton-dependent cytokinesis (GO:0061640), protein localization to perinuclear region of cytoplasm (GO:1905719), cell division (GO:0051301)

GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), molecular adaptor activity (GO:0060090), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (13): acrosomal vesicle (GO:0001669), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), septin ring (GO:0005940), microtubule cytoskeleton (GO:0015630), axon (GO:0030424), dendrite (GO:0030425), septin complex (GO:0031105), cell division site (GO:0032153), perikaryon (GO:0043204), perinuclear region of cytoplasm (GO:0048471), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
binding	2
cytoskeleton	2
cell cortex	2
septin cytoskeleton	2
neuron projection	2
cytoplasm	2
cell migration	1
generation of neurons	1
germ cell development	1
spermatid differentiation	1
macromolecule localization	1
cytokinesis	1
intracellular protein localization	1
cellular process	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
molecular_function	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
secretory granule	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
dendritic tree	1
protein-containing complex	1
neuronal cell body	1
intracellular vesicle	1

Protein interactions and networks

STRING

390 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEPTIN14	SEPTIN4	O43236	638
SEPTIN14	LANCL2	Q9NS86	570
SEPTIN14	PSPH	P78330	533
SEPTIN14	SEC61G	P38384	525
SEPTIN14	TACC3	Q9Y6A5	519
SEPTIN14	ZNF713	Q8N859	507
SEPTIN14	VOPP1	Q96AW1	496
SEPTIN14	SEPTIN9	Q9UHD8	475
SEPTIN14	VSTM2A	Q8TAG5	452
SEPTIN14	SUMF2	Q8NBJ7	445
SEPTIN14	TACC1	O75410	418
SEPTIN14	NIPSNAP2	O75323	407
SEPTIN14	SEPTIN8	Q92599	403
SEPTIN14	EGFR	P00533	398
SEPTIN14	SEPTIN10	Q9P0V9	396

IntAct

47 interactions, top by confidence:

A	B	Type	Score
SEPTIN7	SEPTIN6	psi-mi:“MI:0914”(association)	0.850
SEPTIN3	SEPTIN6	psi-mi:“MI:0914”(association)	0.800
SEPTIN11	SEPTIN2	psi-mi:“MI:0914”(association)	0.740
SEPTIN14	GORASP2	psi-mi:“MI:0915”(physical association)	0.560
SEPTIN14	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
SEPTIN14	VPS25	psi-mi:“MI:0915”(physical association)	0.560
SEPTIN14	ARMC7	psi-mi:“MI:0915”(physical association)	0.560
SEPTIN14	FAM124B	psi-mi:“MI:0915”(physical association)	0.560
SEPTIN14	SEPTIN2	psi-mi:“MI:0915”(physical association)	0.550
SEPTIN14	SEPTIN7	psi-mi:“MI:0915”(physical association)	0.550
SEPTIN9	SEPTIN14	psi-mi:“MI:0915”(physical association)	0.540
SEPTIN9	SEPTIN14	psi-mi:“MI:0403”(colocalization)	0.540
SEPTIN14	SEPTIN9	psi-mi:“MI:0915”(physical association)	0.540
CDC42EP4	SEPTIN6	psi-mi:“MI:0914”(association)	0.530
SEPTIN10	SEPTIN2	psi-mi:“MI:0914”(association)	0.530
	SEPTIN14	psi-mi:“MI:0915”(physical association)	0.400
SEPTIN14	SEPTIN9	psi-mi:“MI:0915”(physical association)	0.370
SEPTIN9	SEPTIN14	psi-mi:“MI:0915”(physical association)	0.370
SEPTIN1	SEPTIN14	psi-mi:“MI:0915”(physical association)	0.370
SEPTIN14	Septin3	psi-mi:“MI:0915”(physical association)	0.370
SEPTIN4	SEPTIN14	psi-mi:“MI:0915”(physical association)	0.370
Septin11	SEPTIN14	psi-mi:“MI:0915”(physical association)	0.370
Septin12	SEPTIN14	psi-mi:“MI:0915”(physical association)	0.370
SEPTIN6	SEPTIN4	psi-mi:“MI:0914”(association)	0.350
SEPTIN7	SEPTIN4	psi-mi:“MI:0914”(association)	0.350
CDC42EP4	SEPTIN4	psi-mi:“MI:0914”(association)	0.350

BioGRID (46): SEPT14 (Affinity Capture-MS), SEPT14 (Affinity Capture-MS), SEPT14 (Affinity Capture-MS), SEPT14 (Affinity Capture-MS), SEPT14 (Affinity Capture-MS), SEPT14 (Affinity Capture-MS), SEPT14 (Affinity Capture-MS), SEPT14 (Two-hybrid), SEPT14 (Two-hybrid), SEPT14 (Two-hybrid), SEPT14 (Two-hybrid), WDYHV1 (Two-hybrid), SEPT14 (Protein-RNA), SEPT14 (Affinity Capture-MS), DCTN1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JDV3, A0MWD1, A1E2I4, A4UUI3, A6QQL3, A7VK00, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, P20591, P20592, P32455, P32456, Q01514, Q0VCP4, Q14141, Q1MT80, Q28379, Q2KTC2, Q3SZN0, Q4R555, Q5D1D6, Q5I2P5, Q5R5G3, Q5R9T9, Q5RBE1, Q61107, Q63663, Q642H3, Q6AXA6, Q6IRQ5, Q6ZN66, Q6ZU15, Q8C1B7, Q8C650, Q8CFB4

Diamond homologs: A0A096MJN4, A0A3Q0KDV9, A1L0Y5, A2BGU8, A2VE99, A4FUM1, A5D7Q3, A5PJU9, A6QQL3, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, G1UB61, O36023, O43236, O55131, O60165, P25342, P28661, P32457, P32458, P32468, P39826, P39827, P40797, P41901, P42207, P42208, P42209, P48008, P48009, P48010, P54359, Q04921, Q08DM7, Q09116

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 25 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.

GO biological processes:

GO term	Partners	Fold	FDR
cytoskeleton-dependent cytokinesis	9	361.1×	2e-20
intracellular protein localization	9	47.1×	4e-12

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	65
Likely benign	7
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2034 predictions. Top by Δscore:

Variant	Effect	Δscore
7:55805256:A:AC	donor_gain	1.0000
7:55805256:ACCT:A	donor_gain	1.0000
7:55805257:C:CC	donor_gain	1.0000
7:55805257:CCT:C	donor_gain	1.0000
7:55805257:CCTC:C	donor_gain	1.0000
7:55805389:AA:A	acceptor_gain	1.0000
7:55805391:C:CC	acceptor_gain	1.0000
7:55807256:CCA:C	acceptor_gain	1.0000
7:55807257:CAC:C	acceptor_gain	1.0000
7:55807259:C:CC	acceptor_gain	1.0000
7:55834418:AACTT:A	donor_loss	1.0000
7:55834419:ACTT:A	donor_loss	1.0000
7:55834420:CTT:C	donor_loss	1.0000
7:55834423:A:AC	donor_gain	1.0000
7:55834423:A:C	donor_loss	1.0000
7:55834424:C:CC	donor_gain	1.0000
7:55834424:CA:C	donor_gain	1.0000
7:55834424:CACTA:C	donor_gain	1.0000
7:55834429:A:AC	donor_gain	1.0000
7:55834430:C:CC	donor_gain	1.0000
7:55834583:TCACC:T	acceptor_loss	1.0000
7:55834584:CACCT:C	acceptor_loss	1.0000
7:55834586:CCT:C	acceptor_loss	1.0000
7:55834587:C:A	acceptor_loss	1.0000
7:55834588:T:G	acceptor_loss	1.0000
7:55843124:GGTAG:G	acceptor_gain	1.0000
7:55843125:GTAG:G	acceptor_gain	1.0000
7:55843126:TAG:T	acceptor_gain	1.0000
7:55843127:AG:A	acceptor_gain	1.0000
7:55843129:C:CC	acceptor_gain	1.0000

AlphaMissense

2902 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:55819153:C:G	R264P	0.991
7:55807222:C:G	R285P	0.990
7:55843019:A:G	C161R	0.989
7:55834564:G:T	A194D	0.988
7:55843031:G:T	R157S	0.988
7:55819142:A:G	W268R	0.987
7:55819142:A:T	W268R	0.987
7:55807189:A:G	L296P	0.986
7:55807225:A:G	L284P	0.986
7:55846517:C:A	G59W	0.986
7:55807149:C:A	R309S	0.985
7:55807149:C:G	R309S	0.985
7:55819154:G:T	R264S	0.984
7:55807150:C:G	R309T	0.983
7:55843030:C:G	R157P	0.983
7:55844718:C:T	G59E	0.983
7:55844718:C:A	G59V	0.982
7:55846517:C:G	G59R	0.981
7:55846517:C:T	G59R	0.981
7:55807150:C:A	R309M	0.980
7:55819207:G:T	A246D	0.980
7:55834521:C:A	K208N	0.980
7:55834521:C:G	K208N	0.980
7:55843017:A:C	C161W	0.980
7:55843081:A:G	L140P	0.979
7:55819156:C:T	G263D	0.978
7:55834559:C:G	A196P	0.977
7:55846525:A:G	L56P	0.977
7:55807213:A:G	L288P	0.976
7:55843031:G:C	R157G	0.976

dbSNP variants (sampled 300 via entrez): RS1000035751 (7:55837514 A>G), RS1000078598 (7:55837596 T>C), RS1000256008 (7:55832147 G>A), RS1000366933 (7:55825042 C>T), RS1000403494 (7:55840870 C>T), RS1000468260 (7:55834373 T>C), RS1000585565 (7:55831665 A>G), RS1000647984 (7:55827433 G>A), RS1000660277 (7:55802860 G>C), RS1000694137 (7:55826548 AG>A), RS1000705563 (7:55826363 C>T), RS1000774868 (7:55803073 G>A), RS1000827336 (7:55861360 G>A), RS1000835061 (7:55855778 G>C,T), RS1000997157 (7:55833463 C>G)

Disease associations

OMIM: gene MIM:612140 | 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
GCST005998_16	Alanine transaminase levels	4.000000e-09
GCST007382_26	Plasma free amino acid levels (adjusted for twenty other PFAAs)	4.000000e-19
GCST007385_13	Plasma free amino acid levels	9.000000e-17
GCST009796_2	Opioid use cessation	1.000000e-06
GCST012251_16	Macular telangiectasia type 2	3.000000e-07
GCST012252_7	Macular telangiectasia type 2	6.000000e-09
GCST90000025_348	Appendicular lean mass	2.000000e-16

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005134	amino acid measurement
EFO:0009774	serine measurement
EFO:0009937	Opioid use measurement
EFO:1002009	macular telangiectasia type 2
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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
butyraldehyde	decreases expression	1
MT19c compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Clozapine	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1

Clinical trials (associated diseases)

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