OSTC

Summary

OSTC (oligosaccharyltransferase complex non-catalytic subunit, HGNC:24448) is a protein-coding gene on chromosome 4q25, encoding Oligosaccharyltransferase complex subunit OSTC (Q9NRP0). Subunit of STT3A-containing oligosaccharyl transferase (OST-A) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in…. It is a selective cancer dependency (DepMap: 68.4% of cell lines).

Enables protein-macromolecule adaptor activity. Involved in co-translational protein modification and protein N-linked glycosylation via asparagine. Part of oligosaccharyltransferase complex A.

Source: NCBI Gene 58505 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital disorder of glycosylation (Limited, GenCC)
• Clinical variants (ClinVar): 14 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 68.4% of screened cell lines
• MANE Select transcript: NM_021227

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24448
Approved symbol	OSTC
Name	oligosaccharyltransferase complex non-catalytic subunit
Location	4q25
Locus type	gene with protein product
Status	Approved
Aliases	DC2
Ensembl gene	ENSG00000198856
Ensembl biotype	protein_coding
OMIM	619023
Entrez	58505

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000361564, ENST00000505745, ENST00000510556, ENST00000512478, ENST00000613215, ENST00000931147, ENST00000950713

RefSeq mRNA: 3 — MANE Select: NM_021227 NM_001267817, NM_001267818, NM_021227

CCDS: CCDS3681, CCDS58921, CCDS75177

Canonical transcript exons

ENST00000361564 — 4 exons

Exon	Start	End
ENSE00000736408	108655564	108655657
ENSE00000841691	108657450	108657647
ENSE00001287830	108667247	108667820
ENSE00001377747	108650599	108650794

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 98.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.3535 / max 753.4331, expressed in 1806 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49220	36.5556	1806
49221	0.7979	495

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	98.95	gold quality
islet of Langerhans	UBERON:0000006	98.88	gold quality
tibia	UBERON:0000979	98.73	gold quality
adrenal tissue	UBERON:0018303	98.54	gold quality
ileal mucosa	UBERON:0000331	98.39	gold quality
body of pancreas	UBERON:0001150	98.39	gold quality
corpus epididymis	UBERON:0004359	98.01	gold quality
rectum	UBERON:0001052	97.90	gold quality
pancreas	UBERON:0001264	97.87	gold quality
smooth muscle tissue	UBERON:0001135	97.76	gold quality
gall bladder	UBERON:0002110	97.75	gold quality
endometrium	UBERON:0001295	97.64	gold quality
vermiform appendix	UBERON:0001154	97.59	gold quality
cartilage tissue	UBERON:0002418	97.51	gold quality
right lobe of liver	UBERON:0001114	97.44	gold quality
duodenum	UBERON:0002114	97.44	gold quality
monocyte	CL:0000576	97.23	gold quality
calcaneal tendon	UBERON:0003701	97.20	gold quality
leukocyte	CL:0000738	97.17	gold quality
adenohypophysis	UBERON:0002196	97.16	gold quality
decidua	UBERON:0002450	96.96	gold quality
pituitary gland	UBERON:0000007	96.94	gold quality
secondary oocyte	CL:0000655	96.85	gold quality
endocervix	UBERON:0000458	96.76	gold quality
caecum	UBERON:0001153	96.76	gold quality
right ovary	UBERON:0002118	96.72	gold quality
uterus	UBERON:0000995	96.71	gold quality
lymph node	UBERON:0000029	96.68	gold quality
right coronary artery	UBERON:0001625	96.65	gold quality
metanephros	UBERON:0000081	96.63	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	65.88
E-MTAB-9467	yes	47.09
E-HCAD-10	yes	44.78
E-HCAD-1	yes	43.07
E-CURD-122	yes	21.45
E-CURD-112	yes	14.74
E-MTAB-10042	yes	13.38
E-CURD-46	yes	12.64
E-MTAB-9801	yes	6.37
E-MTAB-7037	no	406.17
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting OSTC, 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-3692-3P	99.98	70.27	2139
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-12130	99.75	65.47	452
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-34B-3P	98.70	67.40	1171

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 68.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• These results suggest that the upregulation of OSTC/DC2, a novel component of the oligosaccharyltransferase complex, is part of the mammalian heat shock response. (PMID:24751383)
• DC2 and KCP2 mediate the interaction between the oligosaccharyltransferase STT3A and the endoplasmic reticulum translocon. (PMID:28860277)
• Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation. (PMID:32267060)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ostc	ENSDARG00000104901
mus_musculus	Ostc	ENSMUSG00000041084
rattus_norvegicus	Ostc	ENSRNOG00000023322
rattus_norvegicus	Ostcl1	ENSRNOG00000063260
drosophila_melanogaster	CG9662	FBGN0031529

Protein

Protein identifiers

Oligosaccharyltransferase complex subunit OSTC — Q9NRP0 (reviewed: Q9NRP0)

Alternative names: Hydrophobic protein HSF-28

All UniProt accessions (2): Q9NRP0, A0A087WUD3

UniProt curated annotations — full annotation on UniProt →

Function. Subunit of STT3A-containing oligosaccharyl transferase (OST-A) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). Within the OST-A complex, acts as an adapter that anchors the OST-A complex to the Sec61 complex. May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1.

Subunit / interactions. Component of STT3A-containing oligosaccharyl transferase (OST-A) complex. STT3A-containing complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The OST-A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes. Interacts with PSEN1 and NCSTN; indicative for an association with the gamma-secretase complex.

Subcellular location. Endoplasmic reticulum. Membrane.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the OSTC family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NRP0-1	1	yes
Q9NRP0-2	2

RefSeq proteins (3): NP_001254746, NP_001254747, NP_067050* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021149	MAGT1/OST3/OST6	Family
IPR042416	OSTC	Family

Pfam: PF04756

Enzyme classification (BRENDA):

• EC 2.4.99.18 — dolichyl-diphosphooligosaccharide-protein glycotransferase (BRENDA: 84 organisms, 135 substrates, 28 inhibitors, 38 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

29 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
TYR-ASN-LEU-THR-SER-VAL	0.05–0.6	3
ACETYL-ASN-ALA-THR	0.08–0.143	2
ALA-LEU-GLN-ASN-ALA-THR-ARG	0.3–0.358	2
ASN-ALA-THR	0.56–2.09	2
DIPHENYL-ALA-LEU-GLU-ASN-ALA-THR-ARG-NH2	0.072–0.23	2
TYR-GLN-SER-ASN-SER-THR-MET	0.08–0.127	2
AC-ASN-ALA-THR-NH2	2	1
AC-ASN-LEU-THR-NH2	1	1
ACETYL-ASN-LYS-THR	0.278	1
ACETYL-DFNAT-(4-NITROPHENYLALANINE)-NH2	0.0009	1
ACETYL-DFNVT-(4-NITROPHENYLALANINE)-NH2	0.0012	1
ACETYL-DQNAT-(4-NITROPHENYLALANINE)-NH2	0.0008	1
ACETYL-DVNAS-(4-NITROPHENYLALANINE)-NH2	0.003	1
ACETYL-DVNAT-(4-NITROPHENYLALANINE)-NH2	0.0011	1
ACETYL-DVNVT-(4-NITROPHENYLALANINE)-NH2	0.0014	1

UniProt features (16 total): topological domain 4, helix 4, transmembrane region 3, chain 1, sequence conflict 1, turn 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9N9J	ELECTRON MICROSCOPY	3.2
6S7O	ELECTRON MICROSCOPY	3.5
8PN9	ELECTRON MICROSCOPY	3.61
9YGY	ELECTRON MICROSCOPY	4.1
8B6L	ELECTRON MICROSCOPY	7.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NRP0-F1	86.48	0.49

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-9694548	Maturation of spike protein
R-HSA-9768727	Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
R-HSA-9918432	Maturation of DENV proteins
R-HSA-9931295	PD-L1(CD274) glycosylation and translocation to plasma membrane

MSigDB gene sets: 178 (showing top): RNGTGGGC_UNKNOWN, chr4q25, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, ZIC1_01, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MORI_PLASMA_CELL_UP, ACEVEDO_LIVER_CANCER_UP, MODULE_95, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS

GO Biological Process (4): protein N-linked glycosylation (GO:0006487), obsolete protein N-linked glycosylation via asparagine (GO:0018279), obsolete protein glycosylation (GO:0006486), obsolete co-translational protein modification (GO:0043686)

GO Molecular Function (3): protein-macromolecule adaptor activity (GO:0030674), dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579), protein binding (GO:0005515)

GO Cellular Component (5): endoplasmic reticulum membrane (GO:0005789), oligosaccharyltransferase complex (GO:0008250), oligosaccharyltransferase complex A (GO:0160226), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Translation of Structural Proteins	1
Regulation of CDH1 Expression and Function	1
Dengue Virus Genome Translation and Replication	1
Regulation of PD-L1(CD274) Post-translational modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
protein binding	1
molecular adaptor activity	1
oligosaccharyl transferase activity	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum membrane	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
transferase complex	1
oligosaccharyltransferase complex	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1030 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OSTC	KRTCAP2	Q8N6L1	913
OSTC	PRKX	P51817	841
OSTC	OST4	P0C6T2	820
OSTC	DAD1	P46966	796
OSTC	STT3A	P46977	769
OSTC	AMELY	Q99218	764
OSTC	PRKY	O43930	763
OSTC	STT3B	Q8TCJ2	761
OSTC	AMELX	Q99217	719
OSTC	TUSC3	Q13454	701
OSTC	TMEM258	P61165	682
OSTC	DDOST	P39656	618
OSTC	MAGT1	Q9H0U3	585
OSTC	RPN1	P04843	571
OSTC	RPN2	P04844	532

IntAct

60 interactions, top by confidence:

A	B	Type	Score
EDA	OSTC	psi-mi:“MI:0915”(physical association)	0.560
OSTC	EDA	psi-mi:“MI:0915”(physical association)	0.560
TUSC5	OSTC	psi-mi:“MI:0915”(physical association)	0.560
DDOST	RPN1	psi-mi:“MI:0915”(physical association)	0.560
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
DAD1	RPN1	psi-mi:“MI:0915”(physical association)	0.530
RPN1	APBB1	psi-mi:“MI:0914”(association)	0.530
AMER1	OSTC	psi-mi:“MI:0915”(physical association)	0.400
OSTC	CCR9	psi-mi:“MI:0915”(physical association)	0.370
OSTC	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
OSTC	GPR35	psi-mi:“MI:0915”(physical association)	0.370
ATP13A2	OSTC	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
	PGRMC1	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
ISG15	SURF4	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
DPEP1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
ATP2B2	GPR89A	psi-mi:“MI:0914”(association)	0.350
GYG2	GYS1	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350

BioGRID (83): OSTC (Two-hybrid), OSTC (Affinity Capture-MS), OSTC (Affinity Capture-MS), OSTC (Affinity Capture-MS), OSTC (Affinity Capture-MS), OSTC (Affinity Capture-MS), OSTC (Affinity Capture-MS), OSTC (Affinity Capture-MS), OSTC (Affinity Capture-MS), OSTC (Affinity Capture-RNA), OSTC (Affinity Capture-MS), OSTC (Positive Genetic), OSTC (Affinity Capture-MS), OSTC (Two-hybrid), OSTC (Affinity Capture-MS)

ESM2 similar proteins: A0A1V0HUU2, B0B970, B0K025, O22993, O24301, O32865, P02962, P04123, P06808, P09397, P0AAQ0, P0AAQ1, P0C5R9, P0DV51, P0DXB3, P20467, P29573, P29574, P31083, P45546, P50742, P55522, P64932, P73690, P80590, P80591, P86218, P9WLL2, P9WLL3, P9WQ28, P9WQ29, Q00917, Q02331, Q10436, Q28IL7, Q2KID7, Q33300, Q4ZUD1, Q5M9B7, Q5ZJR3

Diamond homologs: B0K025, P86218, Q28IL7, Q2KID7, Q5M9B7, Q5ZJR3, Q6GNY6, Q78XF5, Q7ZWJ3, Q9NRP0, Q9VQP9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
OSTC	“form complex”	“OST-A complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 63 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
PD-L1(CD274) glycosylation and translocation to plasma membrane	5	61.8×	5e-06
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	5	40.0×	2e-05
Maturation of spike protein	5	31.6×	5e-05
Maturation of DENV proteins	5	25.2×	1e-04
Asparagine N-linked glycosylation	6	8.6×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
obsolete protein N-linked glycosylation via asparagine	5	61.3×	1e-05
protein N-linked glycosylation	6	28.7×	2e-05
monoatomic ion transmembrane transport	5	18.9×	1e-03
regulation of protein stability	5	11.4×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

598 predictions. Top by Δscore:

Variant	Effect	Δscore
4:108650792:G:GT	donor_gain	1.0000
4:108650887:G:GT	donor_gain	1.0000
4:108650887:G:T	donor_gain	1.0000
4:108655558:TTATA:T	acceptor_loss	1.0000
4:108655559:TATA:T	acceptor_loss	1.0000
4:108655560:ATAGG:A	acceptor_loss	1.0000
4:108655561:TAG:T	acceptor_loss	1.0000
4:108655562:A:AG	acceptor_gain	1.0000
4:108655562:A:T	acceptor_loss	1.0000
4:108655562:AG:A	acceptor_gain	1.0000
4:108655563:G:GG	acceptor_gain	1.0000
4:108655563:GG:G	acceptor_gain	1.0000
4:108655563:GGA:G	acceptor_gain	1.0000
4:108655563:GGAAT:G	acceptor_gain	1.0000
4:108655653:TACAG:T	donor_loss	1.0000
4:108655654:ACAGG:A	donor_loss	1.0000
4:108655655:CAGGT:C	donor_loss	1.0000
4:108655656:AGGTA:A	donor_loss	1.0000
4:108655657:GGT:G	donor_loss	1.0000
4:108655658:GTA:G	donor_loss	1.0000
4:108655659:T:G	donor_loss	1.0000
4:108650765:T:TA	donor_gain	0.9900
4:108650766:G:GA	donor_gain	0.9900
4:108650793:AGGTA:A	donor_loss	0.9900
4:108650794:GG:G	donor_loss	0.9900
4:108650795:GTAA:G	donor_loss	0.9900
4:108650796:T:A	donor_loss	0.9900
4:108655560:A:AG	acceptor_gain	0.9900
4:108655560:ATAG:A	acceptor_gain	0.9900
4:108655561:T:G	acceptor_gain	0.9900

AlphaMissense

971 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:108650794:G:A	G47R	1.000
4:108650794:G:C	G47R	1.000
4:108655564:G:A	G47E	1.000
4:108655564:G:T	G47V	1.000
4:108655575:G:C	D51H	1.000
4:108655600:T:A	V59D	1.000
4:108655602:G:C	G60R	1.000
4:108655602:G:T	G60C	1.000
4:108655603:G:A	G60D	1.000
4:108655603:G:T	G60V	1.000
4:108655614:G:C	D64H	1.000
4:108655623:G:T	G67W	1.000
4:108655624:G:A	G67E	1.000
4:108655624:G:T	G67V	1.000
4:108655642:C:A	A73D	1.000
4:108655644:T:C	F74L	1.000
4:108655645:T:C	F74S	1.000
4:108655645:T:G	F74C	1.000
4:108655646:C:A	F74L	1.000
4:108655646:C:G	F74L	1.000
4:108655657:G:C	R78T	1.000
4:108655657:G:T	R78I	1.000
4:108657456:T:A	N80K	1.000
4:108657456:T:G	N80K	1.000
4:108657461:A:C	Q82P	1.000
4:108657462:A:C	Q82H	1.000
4:108657462:A:T	Q82H	1.000
4:108657463:T:C	Y83H	1.000
4:108657467:T:A	I84N	1.000
4:108657472:G:A	E86K	1.000

dbSNP variants (sampled 300 via entrez): RS1000054461 (4:108666555 G>T), RS1000210648 (4:108657882 G>T), RS1000292980 (4:108662594 C>T), RS1000349841 (4:108660074 C>T), RS1000389158 (4:108650039 C>A), RS1000411365 (4:108653044 CAAAA>C,CAAA,CAAAAA), RS1000504739 (4:108661343 A>G), RS1000550660 (4:108667830 T>C), RS1000686399 (4:108667387 T>C), RS1001043200 (4:108661078 C>T), RS10011349 (4:108664345 T>A,C,G), RS1001180448 (4:108660559 A>G), RS1001268271 (4:108653811 T>C), RS1001611888 (4:108660977 G>A,T), RS1001808894 (4:108654803 A>C)

Disease associations

OMIM: gene MIM:619023 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital disorder of glycosylation	Limited	Autosomal recessive

Mondo (1): congenital disorder of glycosylation (MONDO:0015286)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018981	Congenital Disorders of Glycosylation	C16.320.565.202.125; C18.452.648.202.125

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067083 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.94	Kd	1152	nM	CHEMBL5653589
5.94	ED50	1152	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148920: Binding affinity to human OSTC incubated for 45 mins by Kinobead based pull down assay	kd	1.1524	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Rotenone	increases expression	2
Tunicamycin	increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
beauvericin	affects cotreatment, increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression	1
zinc chromate	increases abundance, increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
CGP 52608	increases reaction, affects binding	1
chloropicrin	affects expression	1
enniatins	affects cotreatment, increases expression	1
fenpyroximate	increases expression	1
pyrimidifen	increases expression	1
abrine	decreases expression, increases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Diuron	decreases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Nickel	increases expression	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
Thiram	increases expression	1
Tretinoin	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Thapsigargin	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651962	Binding	Binding affinity to human OSTC incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3D4	Abcam HEK293T OSTC KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07572825	PHASE1	NOT_YET_RECRUITING	Assessing the Safety and Tolerability of NMN in DHDDS-CDG
NCT02089789	Not specified	RECRUITING	Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
NCT02503267	Not specified	UNKNOWN	Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects
NCT02955264	Not specified	COMPLETED	Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
NCT03250728	Not specified	COMPLETED	Role of the Endothelium in Stroke-like Episode Among CDG Patients
NCT03560570	Not specified	COMPLETED	Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
NCT04198987	Not specified	COMPLETED	Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
NCT04199000	Not specified	RECRUITING	Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
NCT04201067	Not specified	COMPLETED	Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism