C12orf43

Summary

C12orf43 (chromosome 12 open reading frame 43, HGNC:25719) is a protein-coding gene on chromosome 12q24.31, encoding Protein CUSTOS (Q96C57). Plays a role in the regulation of Wnt signaling pathway during early development.

Predicted to be involved in Spemann organizer formation and negative regulation of Wnt signaling pathway. Predicted to be located in nuclear envelope.

Source: NCBI Gene 64897 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 91 total — 2 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_022895

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25719
Approved symbol	C12orf43
Name	chromosome 12 open reading frame 43
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12448, Custos
Ensembl gene	ENSG00000157895
Ensembl biotype	protein_coding
Entrez	64897

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 10 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000288757, ENST00000445832, ENST00000502891, ENST00000508193, ENST00000535367, ENST00000537817, ENST00000538296, ENST00000539736, ENST00000546272, ENST00000886555, ENST00000886556, ENST00000886557, ENST00000886558

RefSeq mRNA: 7 — MANE Select: NM_022895 NM_001286191, NM_001286192, NM_001286195, NM_001286196, NM_001286197, NM_001286198, NM_022895

CCDS: CCDS66486, CCDS66487, CCDS76613, CCDS9210

Canonical transcript exons

ENST00000288757 — 6 exons

Exon	Start	End
ENSE00001191399	121000486	121004489
ENSE00003477665	121011104	121011146
ENSE00003480821	121016330	121016487
ENSE00003525440	121006321	121006394
ENSE00003548666	121010828	121010926
ENSE00003569609	121005003	121005093

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 90.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6362 / max 71.7681, expressed in 1788 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133687	9.6362	1788

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	90.61	gold quality
oocyte	CL:0000023	88.86	gold quality
prefrontal cortex	UBERON:0000451	86.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.15	gold quality
frontal cortex	UBERON:0001870	83.93	gold quality
right frontal lobe	UBERON:0002810	83.91	gold quality
neocortex	UBERON:0001950	83.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.58	gold quality
sural nerve	UBERON:0015488	83.48	gold quality
anterior cingulate cortex	UBERON:0009835	83.42	gold quality
cortical plate	UBERON:0005343	83.38	gold quality
cingulate cortex	UBERON:0003027	83.29	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	83.03	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.15	gold quality
granulocyte	CL:0000094	81.99	gold quality
middle temporal gyrus	UBERON:0002771	81.94	gold quality
monocyte	CL:0000576	81.75	gold quality
cerebral cortex	UBERON:0000956	81.73	gold quality
leukocyte	CL:0000738	81.54	gold quality
popliteal artery	UBERON:0002250	81.48	gold quality
tibial artery	UBERON:0007610	81.48	gold quality
mononuclear cell	CL:0000842	81.45	gold quality
mucosa of stomach	UBERON:0001199	81.31	gold quality
ventricular zone	UBERON:0003053	81.22	gold quality
aorta	UBERON:0000947	80.64	gold quality
lower esophagus muscularis layer	UBERON:0035833	80.63	gold quality
lower esophagus	UBERON:0013473	80.59	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.57	gold quality
ganglionic eminence	UBERON:0004023	80.55	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	80.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting C12orf43, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-3194-3P	98.83	66.22	1167

Literature-anchored findings (GeneRIF, showing 2)

• Study provides evidence that C12orf43/rs2258287 was associated with the risk of coronary artery disease in the studied Pakistani cohort. (PMID:27263109)
• Association of a single-nucleotide polymorphism in C12orf43 region with the risk of coronary artery disease. (PMID:38430045)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:162025	ENSDARG00000046141
mus_musculus	2210016L21Rik	ENSMUSG00000029559
rattus_norvegicus	C12h12orf43	ENSRNOG00000001185

Protein

Protein identifiers

Protein CUSTOS — Q96C57 (reviewed: Q96C57)

All UniProt accessions (7): E7ENF1, Q96C57, F5H3K2, F5H7W8, F5H8B7, G5EA44, H0YGK4

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the regulation of Wnt signaling pathway during early development.

Subcellular location. Nucleus envelope.

Similarity. Belongs to the CUSTOS family.

RefSeq proteins (7): NP_001273120, NP_001273121, NP_001273124, NP_001273125, NP_001273126, NP_001273127, NP_075046* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026694	CUSTOS	Family

Pfam: PF23999

UniProt features (17 total): modified residue 5, compositionally biased region 5, region of interest 2, sequence conflict 2, chain 1, sequence variant 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96C57-F1	64.08	0.07

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 (5): 79, 138, 182, 211, 61

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 73 (showing top): GOBP_DEVELOPMENTAL_INDUCTION, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOCC_NUCLEAR_ENVELOPE, GOCC_NUCLEOLUS, chr12q24, GOCC_ORGANELLE_ENVELOPE, MODULE_358, TBK1.DF_DN, CIITA_TARGET_GENES, DIDO1_TARGET_GENES, E2F2_TARGET_GENES, GLI4_TARGET_GENES, OVOL3_TARGET_GENES

GO Biological Process (3): Wnt signaling pathway (GO:0016055), negative regulation of Wnt signaling pathway (GO:0030178), Spemann organizer formation (GO:0060061)

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

GO Cellular Component (2): nuclear envelope (GO:0005635), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell surface receptor signaling pathway	1
negative regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
developmental induction	1
anatomical structure formation involved in morphogenesis	1
binding	1
nucleus	1
endomembrane system	1
organelle envelope	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

504 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C12orf43	FAM78B	Q5VT40	550
C12orf43	ANKRD13A	Q8IZ07	532
C12orf43	GPHA2	Q96T91	479
C12orf43	OAZ1	P54368	449
C12orf43	MMAB	Q96EY8	446
C12orf43	CPED1	A4D0V7	435
C12orf43	UBE2QL1	A1L167	419
C12orf43	MRAS	O14807	417
C12orf43	LANCL3	Q6ZV70	415
C12orf43	PPP2R5B	Q15173	402
C12orf43	EID2B	Q96D98	400
C12orf43	GLTP	Q9NZD2	378
C12orf43	OASL	Q15646	373
C12orf43	PCNX3	Q9H6A9	367
C12orf43	TMEM130	Q8N3G9	360

IntAct

54 interactions, top by confidence:

A	B	Type	Score
SPC25	NDC80	psi-mi:“MI:0914”(association)	0.940
YEATS4	ZNHIT1	psi-mi:“MI:0914”(association)	0.790
RPL28	MAGEB2	psi-mi:“MI:0914”(association)	0.560
PIP4K2A	AP3B1	psi-mi:“MI:0914”(association)	0.530
FAM177A1	SLC27A2	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
ANGPTL4	NMT2	psi-mi:“MI:0914”(association)	0.530
TERF1	CUSTOS	psi-mi:“MI:0915”(physical association)	0.510
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
AURKC	USP19	psi-mi:“MI:0914”(association)	0.350
CDK17	DHPS	psi-mi:“MI:0914”(association)	0.350
SLC30A6	ACTBL2	psi-mi:“MI:0914”(association)	0.350
rep	URB1	psi-mi:“MI:0914”(association)	0.350
N	RBM47	psi-mi:“MI:0914”(association)	0.350
MAPRE1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
SRP9	RPS3A	psi-mi:“MI:0914”(association)	0.350
CTCFL	TARS3	psi-mi:“MI:0914”(association)	0.350
ANOS1	ZNF724	psi-mi:“MI:0914”(association)	0.350
AKR7L	KIF2A	psi-mi:“MI:0914”(association)	0.350
PIP4K2C	AP3B1	psi-mi:“MI:0914”(association)	0.350
LINC02910	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350

BioGRID (63): C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS), C12orf43 (Affinity Capture-MS)

ESM2 similar proteins: A1YF19, A2T767, B0K035, F1RCE7, F7BHS0, O95997, P0DPK0, P23999, P97613, Q08B36, Q08BD8, Q09HN1, Q0VA20, Q14140, Q2KHM9, Q2QD14, Q2QD15, Q2T9X8, Q2WG80, Q3SZY3, Q3UHI0, Q3V1H1, Q5R7F8, Q5RBY6, Q5RKG1, Q5XG16, Q5ZJU5, Q6A000, Q6AYH4, Q6DF94, Q7SXC6, Q8BHE0, Q8BHZ5, Q8C804, Q8N0Z3, Q8QGU6, Q8R080, Q8WWK9, Q96C57, Q96FF9

Diamond homologs: A9C3N6, P0DPK0, Q3UY34, Q58CQ0, Q5I034, Q96C57

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 77 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
ribosomal small subunit biogenesis	5	17.0×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	7
Uncertain significance	30
Likely benign	11
Benign	15

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1315998	NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)	Pathogenic
3673260	NM_000545.8(HNF1A):c.1819C>T (p.Gln607Ter)	Pathogenic
1687070	NM_000545.8(HNF1A):c.1772_1773del (p.Ser591fs)	Likely pathogenic
1687084	NM_000545.8(HNF1A):c.1802del (p.Ser600_Ser601insTer)	Likely pathogenic
1687087	NM_000545.8(HNF1A):c.1840_1841del (p.Asn614fs)	Likely pathogenic
1700003	NM_000545.8(HNF1A):c.1786del (p.Val596fs)	Likely pathogenic
3338657	NM_000545.8(HNF1A):c.1853_1854del (p.Ile618fs)	Likely pathogenic
3370444	NM_022895.3(C12orf43):c.*3089_*3099del	Likely pathogenic
522535	NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs)	Likely pathogenic

SpliceAI

1295 predictions. Top by Δscore:

Variant	Effect	Δscore
12:121001061:GCA:G	acceptor_loss	1.0000
12:121001063:A:AG	acceptor_gain	1.0000
12:121001063:A:AT	acceptor_loss	1.0000
12:121001064:G:GC	acceptor_loss	1.0000
12:121001064:G:GG	acceptor_gain	1.0000
12:121001064:GT:G	acceptor_gain	1.0000
12:121004488:CACTG:C	acceptor_gain	1.0000
12:121004490:CTG:C	acceptor_gain	1.0000
12:121004493:C:CC	acceptor_gain	1.0000
12:121004999:TCAC:T	donor_loss	1.0000
12:121005000:CA:C	donor_loss	1.0000
12:121005001:ACCTG:A	donor_loss	1.0000
12:121006395:C:CC	acceptor_gain	1.0000
12:121016342:T:TA	donor_gain	1.0000
12:121016343:C:A	donor_gain	1.0000
12:121001063:AGT:A	acceptor_gain	0.9900
12:121001064:GTG:G	acceptor_gain	0.9900
12:121001064:GTGT:G	acceptor_gain	0.9900
12:121001064:GTGTC:G	acceptor_gain	0.9900
12:121004491:TG:T	acceptor_gain	0.9900
12:121004492:GCT:G	acceptor_loss	0.9900
12:121004493:C:CG	acceptor_loss	0.9900
12:121004494:T:G	acceptor_loss	0.9900
12:121005001:A:AC	donor_gain	0.9900
12:121005002:C:CC	donor_gain	0.9900
12:121005073:A:AC	acceptor_gain	0.9900
12:121005073:A:C	acceptor_gain	0.9900
12:121005094:C:CA	acceptor_loss	0.9900
12:121005102:CAA:C	acceptor_gain	0.9900
12:121005103:A:T	acceptor_gain	0.9900

AlphaMissense

1712 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:121010869:G:C	F82L	0.994
12:121010869:G:T	F82L	0.994
12:121010871:A:G	F82L	0.994
12:121010870:A:G	F82S	0.990
12:121005089:G:C	F122L	0.985
12:121005089:G:T	F122L	0.985
12:121005091:A:G	F122L	0.985
12:121010870:A:C	F82C	0.979
12:121010856:C:G	A87P	0.978
12:121005090:A:G	F122S	0.977
12:121010867:C:G	R83P	0.960
12:121010926:C:A	R63S	0.958
12:121010926:C:G	R63S	0.958
12:121016390:C:G	A29P	0.953
12:121004452:C:G	A164P	0.948
12:121010831:T:A	D95V	0.948
12:121010858:A:T	V86E	0.948
12:121004449:C:G	A165P	0.943
12:121010865:C:G	A84P	0.941
12:121010855:G:T	A87D	0.940
12:121004448:G:T	A165D	0.939
12:121010858:A:C	V86G	0.937
12:121010846:A:G	L90P	0.935
12:121011104:C:G	R63T	0.935
12:121010846:A:T	L90Q	0.932
12:121005090:A:C	F122C	0.931
12:121010830:G:C	D95E	0.931
12:121010830:G:T	D95E	0.931
12:121010832:C:G	D95H	0.927
12:121011109:G:C	S61R	0.927

dbSNP variants (sampled 300 via entrez): RS1000123997 (12:121002255 G>A), RS1000304786 (12:121015921 C>T), RS1000380389 (12:121008959 G>A), RS1000440254 (12:121015616 C>A,T), RS1000878973 (12:121013142 C>A,T), RS1000918249 (12:121010734 G>A,T), RS1001177772 (12:121015107 T>C), RS1001304081 (12:121003943 G>A), RS1001589804 (12:121007682 T>G), RS1001758189 (12:121001576 C>G), RS1001858592 (12:121003731 A>G), RS1001973074 (12:121014116 T>C), RS1002006913 (12:121010113 T>C), RS1002058403 (12:121003417 G>A), RS1002109135 (12:121013751 A>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:600496, MIM:125850, MIM:606391, MIM:222100, MIM:125853, MIM:142330, MIM:144700, MIM:612520, MIM:620009, MIM:167000

GenCC curated gene-disease

Mondo (11): maturity-onset diabetes of the young type 3 (MONDO:0010894), monogenic diabetes (MONDO:0015967), maturity-onset diabetes of the young (MONDO:0018911), type 1 diabetes mellitus (MONDO:0005147), type 2 diabetes mellitus (MONDO:0005148), hepatic adenomas, familial (MONDO:0007718), nonpapillary renal cell carcinoma (MONDO:0007763), type 1 diabetes mellitus 20 (MONDO:0012919), keratoderma-ichthyosis-deafness syndrome, autosomal recessive (MONDO:0859278), gestational diabetes (MONDO:0005406), ovarian cancer (MONDO:0008170)

Orphanet (5): Rare genetic diabetes mellitus (Orphanet:183625), MODY (Orphanet:552), Hereditary clear cell renal cell carcinoma (Orphanet:422526), Rare ovarian cancer (Orphanet:213500), NON RARE IN EUROPE: Diabetes mellitus type 1 (Orphanet:243377)

HPO phenotypes

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

HPO	Term
HP:0004904	Maturity-onset diabetes of the young

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST000248_11	Liver enzyme levels	2.000000e-10
GCST000338_2	Coronary heart disease	5.000000e-07
GCST000925_2	N-glycan levels	2.000000e-08
GCST000925_6	N-glycan levels	4.000000e-08
GCST001650_6	C-reactive protein	3.000000e-10
GCST002424_2	C-reactive protein levels	3.000000e-10
GCST002690_21	Very long-chain saturated fatty acid levels (fatty acid 20:0)	3.000000e-06
GCST004615_94	Hemoglobin concentration	6.000000e-10
GCST005046_13	N-glycan levels	4.000000e-10
GCST005046_14	N-glycan levels	4.000000e-08
GCST005046_15	N-glycan levels	8.000000e-12
GCST005046_16	N-glycan levels	3.000000e-11
GCST005046_17	N-glycan levels	4.000000e-09
GCST005046_18	N-glycan levels	5.000000e-10
GCST008062_55	Blood urea nitrogen levels	6.000000e-20
GCST009731_23	Blood protein levels in cardiovascular risk	3.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004999	N-glycan measurement
EFO:0004458	C-reactive protein measurement
EFO:0006796	very long-chain saturated fatty acid measurement
EFO:0004509	hemoglobin measurement
EFO:0008137	galectin-3 measurement

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D003922	Diabetes Mellitus, Type 1	C18.452.394.750.124; C19.246.267; C20.111.327
D003924	Diabetes Mellitus, Type 2	C18.452.394.750.149; C19.246.300
D016640	Diabetes, Gestational	C12.050.703.170; C18.452.394.750.448; C19.246.200
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
C567286	Diabetes Mellitus, Insulin-Dependent, 20 (supp.)
C564190	Hepatic Adenomas, Familial (supp.)
C562772	Mason-Type Diabetes (supp.)
C563933	Maturity-Onset Diabetes of the Young, Type 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs12819210	C12orf43, OASL	3	2.25	1	peginterferon alfa-2b;ribavirin

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
GSK-J4	decreases expression	1
FR900359	affects phosphorylation	1
uranyl acetate	affects expression	1
sodium arsenate	decreases expression	1
beta-lapachone	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Leflunomide	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Lead	affects splicing	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Ozone	affects expression, increases abundance	1
Ribonucleotides	affects binding	1
Tretinoin	decreases expression	1
Uranium	affects expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04239586	PHASE4	UNKNOWN	Switching From Insulin to Sulfonylurea in Diabetes Associated With Variants in MODY Genes
NCT00145353	PHASE4	UNKNOWN	Insulin NovoRapid Versus Actrapid in Treatment of Type 1 Diabetic Patients During Daily Adjustment of Insulin Dose
NCT00145379	PHASE4	COMPLETED	The Effect of Metformin in Overweight Patients With Dysregulated Type 1 Diabetes Mellitus
NCT00206401	PHASE4	COMPLETED	Lantus in the Treatment of Type 1 Diabetes Children
NCT00276393	PHASE4	COMPLETED	Treatment Trial Evaluating Long Acting Insulin in Type 1 Diabetes
NCT00291772	PHASE4	COMPLETED	Continuous Subcutaneous Infusion of Pramlintide and Insulin
NCT00315952	PHASE4	COMPLETED	Study to Estimate the Effects of Inhaled Versus Intravenous (IV) Infusion of Human Insulin in Subjects With Type 1 Diabetes
NCT00340613	PHASE4	COMPLETED	Lunch Time Insulin Injection by School Nurse for Poorly Controlled Diabetes
NCT00346996	PHASE4	COMPLETED	Insulin Analogues and Severe Hypoglycaemia
NCT00360984	PHASE4	COMPLETED	Prevention of Severe Hypoglycemia in Type 1 Diabetes
NCT00372086	PHASE4	COMPLETED	Rosiglitazone and Insulin in T1DM Adolescents
NCT00442767	PHASE4	COMPLETED	Post-meal Insulin Dosing With Adjuvant Pre-meal Pramlintide in Children With Type 1 Diabetes Mellitus
NCT00453934	PHASE4	TERMINATED	Patient Preference of h-Patch vs. Pen or Needle/Syringe as Insulin Administration Device
NCT00461331	PHASE4	COMPLETED	Comparison of Insulins Aspart and Lispro in Insulin Pumps
NCT00472875	PHASE4	UNKNOWN	Do Sulphonylureas Preserve Cortical Function During Hypoglycaemia?
NCT00497536	PHASE4	COMPLETED	Pharmacokinetics of IAsp Following CSII in Patients With T1DM
NCT00502138	PHASE4	COMPLETED	A Pilot Study of Continuous Subcutaneous Pramlintide Infusion Therapy in Patients With Type 1 Diabetes
NCT00505882	PHASE4	WITHDRAWN	Efficacy of Pramlintide on Prevention of Weight Gain Early Onset of Type 1 Diabetes
NCT00530023	PHASE4	COMPLETED	Feasibility Study for Training Pump Naïve Subjects To Use The Paradigm® System And Evaluate Effectiveness
NCT00542399	PHASE4	COMPLETED	Comparing the Metabolic Control of Once to Twice-daily Insulin Detemir Injections
NCT00564395	PHASE4	COMPLETED	Detemir: Role in Type 1 Diabetes
NCT00814476	PHASE4	COMPLETED	The Effects of Regular Home Use Vs Diabetic Team- Supported Use of the Medtronic CareLink Therapy Management System.
NCT00898534	PHASE4	COMPLETED	Effect of Immediate Hemoglobin A1c on Glycemic Control in Children With Type I Diabetes Mellitus
NCT00913497	PHASE4	COMPLETED	The Effect of Insulin Glulisine Compared With Insulin Aspart on Breakfast Post Prandial Glucose Levels in Prepubertal Children
NCT00978796	PHASE4	COMPLETED	Assessing Glucose Effects of Sitagliptin (Januvia) in Adult Patients With Type 1 Diabetes
NCT01019486	PHASE4	COMPLETED	Regadenoson Blood Flow in Type 1 Diabetes (RABIT1D)
NCT01235819	PHASE4	COMPLETED	Comparison Between GLP 1 Analogues and DPP 4 Inhibitors in Type 1 Diabetes Mellitus
NCT01269034	PHASE4	COMPLETED	New Onset Type 1 Diabetes: Role of Exenatide
NCT01269047	PHASE4	COMPLETED	Use of Exenatide and Pramlintide to Decrease Post-prandial Hyperglycemia
NCT01280682	PHASE4	COMPLETED	Immune Intervention With Rituximab to Preserve Beta Cell Function in Early Onset Type 1 Diabetes
NCT01331343	PHASE4	COMPLETED	Effectiveness Study of the Guardian RT in Type 1 Diabetics
NCT01351857	PHASE4	COMPLETED	Diabetes Care Management Compared to Standard Diabetes Care in Adolescents and Young Adults With Type 1 Diabetes
NCT01390480	PHASE4	COMPLETED	Effects of Vitamin D Supplementation in Subjects With New Onset of Type 1 Diabetes
NCT01400659	PHASE4	COMPLETED	Pizza-Salami Study in Children and Adolescents With Type 1 Diabetes
NCT01454700	PHASE4	COMPLETED	Effect of CSII and CGM on Progression of Late Diabetic Complications
NCT01488136	PHASE4	COMPLETED	Use of Diazoxide in Acute Hypoglycaemia
NCT01497912	PHASE4	COMPLETED	Treatment Effects of Atorvastatin on Hemostasis and Skin Microcirculation in Patients With Type 1 Diabetes
NCT01526733	PHASE4	COMPLETED	Randomized, Double Blind, 2 Way Crossover Study of CSII With, Versus Without, Pretreatment With Human Hyaluronidase
NCT01668485	PHASE4	COMPLETED	Mechanisms of Glucose Counterregulation in Pancreatic Islet Transplantation
NCT01678235	PHASE4	COMPLETED	Insulin Glulisine and Aspart in Postprandial Glycemic Control After High-GI Meal in Children With Type 1 Diabetes Mellitus