CSGALNACT2

Summary

CSGALNACT2 (chondroitin sulfate N-acetylgalactosaminyltransferase 2, HGNC:24292) is a protein-coding gene on chromosome 10q11.21, encoding Chondroitin sulfate N-acetylgalactosaminyltransferase 2 (Q8N6G5). Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA).

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X.

Source: NCBI Gene 55454 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 91 total
• MANE Select transcript: NM_018590

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24292
Approved symbol	CSGALNACT2
Name	chondroitin sulfate N-acetylgalactosaminyltransferase 2
Location	10q11.21
Locus type	gene with protein product
Status	Approved
Aliases	GALNACT2, MGC40204, PRO0082, GALNACT-2
Ensembl gene	ENSG00000169826
Ensembl biotype	protein_coding
OMIM	616616
Entrez	55454

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000374466, ENST00000908294, ENST00000908295, ENST00000908296, ENST00000908297, ENST00000943043, ENST00000943044, ENST00000943045, ENST00000943046

RefSeq mRNA: 3 — MANE Select: NM_018590 NM_001319654, NM_001319656, NM_018590

CCDS: CCDS7201

Canonical transcript exons

ENST00000374466 — 8 exons

Exon	Start	End
ENSE00001155834	43175951	43176032
ENSE00001164704	43167004	43167098
ENSE00001194769	43160494	43160595
ENSE00001194776	43158715	43158931
ENSE00001194781	43154897	43155810
ENSE00001194788	43138445	43138567
ENSE00001194801	43163866	43164044
ENSE00001463591	43183250	43185302

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 96.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.7063 / max 401.6199, expressed in 1771 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104741	15.4713	1748
104742	5.4030	1526
104743	1.8946	839
104745	1.5221	564
104744	0.4154	205

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.38	gold quality
visceral pleura	UBERON:0002401	95.98	gold quality
tibia	UBERON:0000979	95.79	gold quality
bone marrow	UBERON:0002371	95.66	gold quality
monocyte	CL:0000576	95.41	gold quality
mononuclear cell	CL:0000842	95.39	gold quality
leukocyte	CL:0000738	95.02	gold quality
endothelial cell	CL:0000115	94.52	gold quality
cartilage tissue	UBERON:0002418	94.47	gold quality
superficial temporal artery	UBERON:0001614	94.16	gold quality
germinal epithelium of ovary	UBERON:0001304	93.88	gold quality
synovial joint	UBERON:0002217	93.78	gold quality
bone marrow cell	CL:0002092	93.56	gold quality
pleura	UBERON:0000977	93.47	gold quality
trabecular bone tissue	UBERON:0002483	93.05	gold quality
lower lobe of lung	UBERON:0008949	93.05	gold quality
parietal pleura	UBERON:0002400	92.98	gold quality
oocyte	CL:0000023	92.65	gold quality
cortical plate	UBERON:0005343	92.40	gold quality
amniotic fluid	UBERON:0000173	92.37	gold quality
blood	UBERON:0000178	92.26	gold quality
periodontal ligament	UBERON:0008266	92.01	gold quality
calcaneal tendon	UBERON:0003701	91.71	gold quality
saphenous vein	UBERON:0007318	91.60	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.95	gold quality
right lung	UBERON:0002167	90.80	gold quality
choroid plexus epithelium	UBERON:0003911	90.51	gold quality
gall bladder	UBERON:0002110	90.35	gold quality
blood vessel layer	UBERON:0004797	90.17	gold quality
mammary duct	UBERON:0001765	89.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

137 targeting CSGALNACT2, 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-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
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-6873-3P	100.00	71.42	2626
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426

Literature-anchored findings (GeneRIF, showing 3)

• plays a role in the initiation and elongation in the synthesis of chondroitin sulfate (PMID:12446672)
• Chondroitin sulfate N-acetylgalactosaminyltransferase 2 is functionally involved in the progression of atherosclerosis both in its early and advanced stages. (PMID:30579596)
• CSGALNACT2 restricts ovarian cancer migration and invasion by modulating MAPK/ERK pathway through DUSP1. (PMID:38082211)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	csgalnact2	ENSDARG00000061400
mus_musculus	Csgalnact2	ENSMUSG00000042042
rattus_norvegicus	Csgalnact2	ENSRNOG00000014713
drosophila_melanogaster	Csgalnact	FBGN0033500

Paralogs (7): CHPF2 (ENSG00000033100), CHPF (ENSG00000123989), CHSY1 (ENSG00000131873), B4GALNT3 (ENSG00000139044), CSGALNACT1 (ENSG00000147408), B4GALNT4 (ENSG00000182272), CHSY3 (ENSG00000198108)

Protein

Protein identifiers

Chondroitin sulfate N-acetylgalactosaminyltransferase 2 — Q8N6G5 (reviewed: Q8N6G5)

Alternative names: Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 2

All UniProt accessions (2): Q8N6G5, A0A0S2Z5F5

UniProt curated annotations — full annotation on UniProt →

Function. Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the chondroitin N-acetylgalactosaminyltransferase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N6G5-1	1	yes
Q8N6G5-2	2

RefSeq proteins (3): NP_001306583, NP_001306585, NP_061060* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008428	Chond_GalNAc	Family
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR051227	CS_glycosyltransferase	Family

Pfam: PF05679

Enzyme classification (BRENDA):

• EC 2.4.1.174 — glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase (BRENDA: 5 organisms, 22 substrates, 39 inhibitors, 0 Km, 0 kcat entries)
• EC 2.4.1.175 — glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase (BRENDA: 8 organisms, 92 substrates, 7 inhibitors, 8 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-N-ACETYL-BETA-D-GALACTOSAMINE	0.0059–0.05	3
UDP-GALNAC	0.221–9.275	2
CHONDROITIN SULFATE CS-11	0.36	1
UDP-N-ACETYL-ALPHA-D-GLUCOSAMINE	0.0059	1

Catalyzed reactions (Rhea), 1 shown:

• 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-(beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP + H(+) (RHEA:23464)

UniProt features (14 total): topological domain 2, splice variant 2, sequence variant 2, binding site 2, glycosylation site 2, chain 1, sequence conflict 1, transmembrane region 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N6G5-F1	87.16	0.63

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 (2): 369; 486

Glycosylation sites (2): 41, 333

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2022870	CS-GAG biosynthesis

MSigDB gene sets: 213 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS, GNF2_MCL1, WANG_LMO4_TARGETS_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, BROWN_MYELOID_CELL_DEVELOPMENT_DN, NRF2_01, SENESE_HDAC1_TARGETS_UP, LIU_CMYB_TARGETS_UP, CUI_TCF21_TARGETS_2_DN, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, MODULE_207, LIU_VMYB_TARGETS_UP

GO Biological Process (3): proteoglycan biosynthetic process (GO:0030166), chondroitin sulfate proteoglycan biosynthetic process (GO:0050650), dermatan sulfate proteoglycan biosynthetic process (GO:0050651)

GO Molecular Function (6): acetylgalactosaminyltransferase activity (GO:0008376), metal ion binding (GO:0046872), glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237), glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (4): Golgi membrane (GO:0000139), membrane (GO:0016020), Golgi cisterna membrane (GO:0032580), Golgi apparatus (GO:0005794)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Chondroitin sulfate/dermatan sulfate metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
proteoglycan biosynthetic process	2
protein O-linked glycosylation via xylose	2
acetylgalactosaminyltransferase activity	2
proteoglycan metabolic process	1
glycoprotein biosynthetic process	1
chondroitin sulfate proteoglycan metabolic process	1
dermatan sulfate proteoglycan metabolic process	1
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
cation binding	1
binding	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cellular anatomical structure	1
organelle membrane	1
Golgi cisterna	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

736 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CSGALNACT2	CHST7	Q9NS84	700
CSGALNACT2	CHST12	Q9NRB3	694
CSGALNACT2	CHST13	Q8NET6	687
CSGALNACT2	CHST15	Q7LFX5	666
CSGALNACT2	B4GALT7	Q9UBV7	656
CSGALNACT2	B3GAT3	O94766	638
CSGALNACT2	CHST11	Q9NPF2	635
CSGALNACT2	CHST14	Q8NCH0	630
CSGALNACT2	CHST3	Q7LGC8	610
CSGALNACT2	CHPF	Q8IZ52	594
CSGALNACT2	EXTL2	Q9UBQ6	582
CSGALNACT2	EXTL3	O43909	576
CSGALNACT2	HS2ST1	Q7LGA3	558
CSGALNACT2	XYLT1	Q86Y38	540
CSGALNACT2	FAM20B	O75063	537

IntAct

145 interactions, top by confidence:

A	B	Type	Score
SYNE4	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.670
SLC35A5	TNKS	psi-mi:“MI:0914”(association)	0.640
POGLUT1	CANX	psi-mi:“MI:0914”(association)	0.640
STX12	SNAP23	psi-mi:“MI:0914”(association)	0.640
GTT3	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	GTT3	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	SSMEM1	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	SLC35E3	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	CREB3L1	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	ARL13B	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	ATP1B4	psi-mi:“MI:0915”(physical association)	0.560
RETREG3	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
CYB5R3	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
TMEM52B	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
FCGR2A	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
MUC1	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	GPR152	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	TMEM143	psi-mi:“MI:0915”(physical association)	0.560
SLC35E3	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
CLDN2	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
SYT1	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (181): SYNE4 (Two-hybrid), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), MCOLN1 (Affinity Capture-MS), TRIM59 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0D3QS98, A0A0D3QS99, A4D0V7, C5H5C4, F6Q1T7, O70309, O75354, P17405, P18084, P18424, P22413, P50747, P52850, P58242, P61642, P80747, Q04519, Q0VBD0, Q0VD19, Q13219, Q52KP5, Q58CQ9, Q5QQ51, Q5STE3, Q64687, Q6DFZ6, Q6KFX9, Q6MZW2, Q6P988, Q6UWX4, Q6YGZ1, Q6ZXD2, Q71RP1, Q812F8, Q8BJQ9, Q8C1F4, Q8C419, Q8N5D6, Q8N6G5, Q8R116

Diamond homologs: Q0VC84, Q5DTK1, Q6ZQ11, Q70JA7, Q7Z1Z1, Q86X52, Q8BJQ9, Q8C1F4, Q8N6G5, Q8TDX6, Q76KP1, Q9JJ05, Q9JJ06, Q9NS00

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 121 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
SLC-mediated transmembrane transport	8	6.2×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
zinc ion transmembrane transport	5	34.1×	1e-04
intracellular zinc ion homeostasis	6	28.1×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	76
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1520 predictions. Top by Δscore:

Variant	Effect	Δscore
10:43138563:GCGCG:G	donor_gain	1.0000
10:43138565:GCG:G	donor_gain	1.0000
10:43138566:CGGTG:C	donor_loss	1.0000
10:43138567:GGT:G	donor_loss	1.0000
10:43138568:G:GG	donor_gain	1.0000
10:43138568:G:T	donor_loss	1.0000
10:43166998:TTGTA:T	acceptor_loss	1.0000
10:43166999:TGTAG:T	acceptor_loss	1.0000
10:43167000:GTAGG:G	acceptor_loss	1.0000
10:43167001:TAGGT:T	acceptor_loss	1.0000
10:43167002:A:AT	acceptor_loss	1.0000
10:43167003:G:T	acceptor_loss	1.0000
10:43167095:GCTG:G	donor_gain	1.0000
10:43167120:T:G	donor_gain	1.0000
10:43175944:A:AG	acceptor_gain	1.0000
10:43175945:A:G	acceptor_gain	1.0000
10:43175948:AAG:A	acceptor_gain	1.0000
10:43175948:AAGG:A	acceptor_loss	1.0000
10:43175949:A:G	acceptor_gain	1.0000
10:43175949:AGG:A	acceptor_loss	1.0000
10:43176028:CATTG:C	donor_gain	1.0000
10:43176029:ATTG:A	donor_gain	1.0000
10:43176030:TTG:T	donor_gain	1.0000
10:43176031:TGGTA:T	donor_loss	1.0000
10:43176033:G:GG	donor_gain	1.0000
10:43176033:GT:G	donor_loss	1.0000
10:43176034:TAA:T	donor_loss	1.0000
10:43138566:CG:C	donor_gain	0.9900
10:43138567:GG:G	donor_gain	0.9900
10:43138570:GAGTA:G	donor_loss	0.9900

AlphaMissense

3602 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:43155373:T:C	L75P	1.000
10:43155394:T:C	L82P	1.000
10:43158724:G:C	R224P	1.000
10:43158741:G:C	G230R	1.000
10:43158808:G:C	R252P	1.000
10:43175975:T:A	W427R	1.000
10:43175975:T:C	W427R	1.000
10:43155810:G:C	G221R	0.999
10:43158715:G:A	G221D	0.999
10:43158741:G:T	G230C	0.999
10:43158742:G:A	G230D	0.999
10:43158742:G:T	G230V	0.999
10:43158750:T:G	Y233D	0.999
10:43158757:T:C	L235P	0.999
10:43158802:T:C	L250P	0.999
10:43160529:T:C	L305P	0.999
10:43164023:T:C	C380R	0.999
10:43164024:G:A	C380Y	0.999
10:43164025:C:G	C380W	0.999
10:43164027:G:C	R381P	0.999
10:43167030:T:C	F396L	0.999
10:43167032:C:A	F396L	0.999
10:43167032:C:G	F396L	0.999
10:43167033:A:C	S397R	0.999
10:43167035:T:A	S397R	0.999
10:43167035:T:G	S397R	0.999
10:43175970:G:A	G425D	0.999
10:43175977:G:C	W427C	0.999
10:43175977:G:T	W427C	0.999
10:43175984:T:C	F430L	0.999

dbSNP variants (sampled 300 via entrez): RS1000014184 (10:43177196 A>T), RS1000066534 (10:43176979 C>T), RS1000078382 (10:43159403 A>C), RS1000098706 (10:43177096 C>G), RS1000348099 (10:43170227 G>C), RS1000424510 (10:43145467 G>A,C), RS1000474571 (10:43170366 G>GA), RS1000512259 (10:43182390 C>A), RS1000522549 (10:43151430 G>A,T), RS1000529373 (10:43137647 A>G), RS1000550089 (10:43151733 C>T), RS1000580457 (10:43183882 A>G), RS1000586631 (10:43137874 G>A,C,T), RS1000875943 (10:43151920 T>G), RS1000881882 (10:43164254 A>G)

Disease associations

OMIM: gene MIM:616616 | 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
GCST000334_2	Hirschsprung disease	4.000000e-18
GCST002658_5	Hirschsprung disease	6.000000e-19
GCST005531_126	Multiple sclerosis	3.000000e-07
GCST006585_2022	Blood protein levels	6.000000e-57
GCST009391_860	Metabolite levels	6.000000e-06
GCST012227_607	Hip circumference adjusted for BMI	8.000000e-09
GCST90000654_47	Central corneal thickness	2.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0010533	sorbitol measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0005213	central corneal thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Acetaminophen	increases expression	3
Air Pollutants	increases abundance, increases expression, decreases expression	3
bisphenol A	affects expression, decreases expression	2
Arsenic	increases abundance, increases expression, affects cotreatment	2
Benzo(a)pyrene	increases expression, increases methylation	2
Silicon Dioxide	increases expression	2
Tretinoin	increases expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	increases expression	2
Asbestos, Crocidolite	affects expression, increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
GSK-J4	increases expression	1
pyrimidin-2-one beta-ribofuranoside	increases expression	1
sodium arsenate	increases abundance, increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
bisphenol S	increases methylation	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
Leflunomide	increases expression	1
Amphotericin B	increases expression	1

Clinical trials (associated diseases)

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