ALG10

Summary

ALG10 (ALG10 alpha-1,2-glucosyltransferase, HGNC:23162) is a protein-coding gene on chromosome 12p11.1, encoding Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A (Q5BKT4). Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.

This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel.

Source: NCBI Gene 84920 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital disorder of glycosylation (Limited, ClinGen)
• GWAS associations: 20
• Clinical variants (ClinVar): 97 total — 2 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_032834

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23162
Approved symbol	ALG10
Name	ALG10 alpha-1,2-glucosyltransferase
Location	12p11.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14751, DIE2, ALG10A
Ensembl gene	ENSG00000139133
Ensembl biotype	protein_coding
OMIM	618355
Entrez	84920

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000266483, ENST00000538927, ENST00000541178, ENST00000541875

RefSeq mRNA: 1 — MANE Select: NM_032834 NM_032834

CCDS: CCDS41769

Canonical transcript exons

ENST00000266483 — 3 exons

Exon	Start	End
ENSE00000936553	34025863	34028302
ENSE00000995358	34022496	34022770
ENSE00003598266	34023962	34024159

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 86.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.6035 / max 68.3181, expressed in 1515 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125009	4.6035	1515

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.50	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.56	gold quality
bone marrow cell	CL:0002092	78.12	gold quality
calcaneal tendon	UBERON:0003701	77.90	gold quality
adrenal tissue	UBERON:0018303	77.69	gold quality
islet of Langerhans	UBERON:0000006	76.44	gold quality
stromal cell of endometrium	CL:0002255	76.43	gold quality
secondary oocyte	CL:0000655	75.70	gold quality
monocyte	CL:0000576	73.33	gold quality
cortical plate	UBERON:0005343	73.28	gold quality
leukocyte	CL:0000738	73.07	gold quality
colonic epithelium	UBERON:0000397	72.72	gold quality
vermiform appendix	UBERON:0001154	72.59	gold quality
smooth muscle tissue	UBERON:0001135	72.44	gold quality
rectum	UBERON:0001052	70.92	gold quality
ganglionic eminence	UBERON:0004023	70.32	gold quality
pancreas	UBERON:0001264	70.23	gold quality
ventricular zone	UBERON:0003053	70.16	gold quality
lymph node	UBERON:0000029	69.09	gold quality
gall bladder	UBERON:0002110	68.53	gold quality
body of pancreas	UBERON:0001150	67.80	gold quality
right adrenal gland	UBERON:0001233	67.13	gold quality
left adrenal gland	UBERON:0001234	67.12	gold quality
bone marrow	UBERON:0002371	67.10	gold quality
adrenal gland	UBERON:0002369	66.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	66.51	gold quality
left adrenal gland cortex	UBERON:0035825	66.39	gold quality
right adrenal gland cortex	UBERON:0035827	66.09	gold quality
tendon	UBERON:0000043	65.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	65.82	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

91 targeting ALG10, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
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

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	alg10	ENSDARG00000053917
mus_musculus	Alg10b	ENSMUSG00000075470
rattus_norvegicus	Alg10	ENSRNOG00000066498
drosophila_melanogaster	Alg10	FBGN0052076
caenorhabditis_elegans	algn-10	WBGENE00007043

Paralogs (1): ALG10B (ENSG00000175548)

Protein

Protein identifiers

Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A — Q5BKT4 (reviewed: Q5BKT4)

Alternative names: Alpha-1,2-glucosyltransferase ALG10-A, Alpha-2-glucosyltransferase ALG10-A, Asparagine-linked glycosylation protein 10 homolog A

All UniProt accessions (3): Q5BKT4, F5GZZ6, F5H5T2

UniProt curated annotations — full annotation on UniProt →

Function. Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. In the lumen of the endoplasmic reticulum, adds the third and last glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Glc(2)Man(9)GlcNAc(2)-PP-Dol to produce Glc(3)Man(9)GlcNAc(2)-PP-Dol.

Subcellular location. Endoplasmic reticulum membrane.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the ALG10 glucosyltransferase family.

RefSeq proteins (1): NP_116223* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016900	Alg10	Family

Pfam: PF04922

Enzyme classification (BRENDA):

• EC 2.4.1.256 — dolichyl-P-Glc:Glc2Man9GlcNAc2-PP-dolichol alpha-1,2-glucosyltransferase (BRENDA: 3 organisms, 1 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• an alpha-D-Glc-(1->3)-alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + a di-trans,poly-cis-dolichyl beta-D-glucosyl phosphate = a alpha-D-Glc-(1->2)-alpha-D-Glc-(1->3)-alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:29543)

UniProt features (28 total): topological domain 12, transmembrane region 12, sequence conflict 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5BKT4-F1	93.51	0.84

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 115 (showing top): MYOGENIN_Q6, HNF3ALPHA_Q6, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, KEGG_N_GLYCAN_BIOSYNTHESIS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, chr12p11, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, MYOD_Q6, GFI1_01, FISCHER_DREAM_TARGETS, AP2_Q6_01, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, E2A_Q2

GO Biological Process (3): protein N-linked glycosylation (GO:0006487), dolichol-linked oligosaccharide biosynthetic process (GO:0006488), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (4): dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity (GO:0106073), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Asparagine N-linked glycosylation	1
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
protein N-linked glycosylation	1
carbohydrate derivative biosynthetic process	1
dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

496 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALG10	ALG6	Q9Y672	691
ALG10	ALG12	Q9BV10	655
ALG10	ALG3	Q92685	615
ALG10	ALG8	Q9BVK2	580
ALG10	ALG5	Q9Y673	515
ALG10	MOGS	Q13724	444
ALG10	LINC02881	B7Z368	432
ALG10	ME3	Q16798	373
ALG10	ZNF804B	A4D1E1	371
ALG10	DPAGT1	Q9H3H5	340
ALG10	NAXE	Q8NCW5	329
ALG10	WDR91	A4D1P6	323
ALG10	UTS2	O95399	310
ALG10	STT3A	P46977	301
ALG10	DERL1	Q9BUN8	300
ALG10	WDR81	Q562E7	300

IntAct

72 interactions, top by confidence:

A	B	Type	Score
VSIG1	TTI1	psi-mi:“MI:0914”(association)	0.640
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
ALG10	SHISAL1	psi-mi:“MI:0915”(physical association)	0.560
ALG10	HERPUD2	psi-mi:“MI:0915”(physical association)	0.560
ALG10	SERP2	psi-mi:“MI:0915”(physical association)	0.560
FBLN1	ALG10	psi-mi:“MI:0915”(physical association)	0.560
SHISAL1	ALG10	psi-mi:“MI:0915”(physical association)	0.560
ALG10	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
CD79A	ALG10	psi-mi:“MI:0915”(physical association)	0.560
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
SPPL2B	UQCRQ	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
DPEP1	ILVBL	psi-mi:“MI:0914”(association)	0.530
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.530
VSIG1	TNPO2	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
ATP5PF	SLC19A2	psi-mi:“MI:0914”(association)	0.530
UPK1A	TMEM223	psi-mi:“MI:0914”(association)	0.350
YIPF3	TMEM223	psi-mi:“MI:0914”(association)	0.350
DPEP1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.350
VIPR2	C15orf61	psi-mi:“MI:0914”(association)	0.350
ATP2B2	GPR89A	psi-mi:“MI:0914”(association)	0.350
FPR2	GPR89A	psi-mi:“MI:0914”(association)	0.350
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.350

BioGRID (70): ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS), ALG10 (Affinity Capture-MS)

ESM2 similar proteins: A2XWN6, A5PJS2, A6NH21, A8WCG0, C7T2J9, D2HBV9, F1NXU8, F1NZP5, O75908, O76062, O77759, O88788, P0C8N6, P18405, P24008, Q0P4J9, Q28891, Q3TD49, Q3UGP8, Q49LS8, Q5BJF2, Q5BKT4, Q5E9R6, Q5F383, Q5GH56, Q5GH64, Q5GH72, Q5HZE5, Q5I7T1, Q5ND56, Q5PQL3, Q5RJM1, Q5XK03, Q5ZKZ9, Q68FF9, Q71RH2, Q7TN60, Q7TNV1, Q7TQM4, Q7XUH5

Diamond homologs: O88788, Q10254, Q3UGP8, Q59YV2, Q5B0M8, Q5BKT4, Q5I7T1, Q8L638, Q8T8L8, P50076, Q4X162, Q6CEA5, Q6CN27, Q6FL34, Q75AQ8, Q6BW42

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 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
R-HSA-425366	5	24.5×	4e-04
G alpha (s) signalling events	5	9.9×	6e-03
G alpha (i) signalling events	7	7.4×	4e-03
Transport of small molecules	8	5.4×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	5	20.6×	8e-04
adenylate cyclase-activating G protein-coupled receptor signaling pathway	7	14.9×	2e-04
intracellular calcium ion homeostasis	5	13.7×	3e-03
phospholipase C-activating G protein-coupled receptor signaling pathway	5	12.4×	4e-03
positive regulation of cytosolic calcium ion concentration	5	11.0×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	71
Likely benign	7
Benign	4

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	Pathogenic
4796318	GRCh38/hg38 12p11.21-11.1(chr12:32600074-34682707)x1	Pathogenic
4278463	NM_032834.4(ALG10):c.181A>G (p.Met61Val)	Likely pathogenic
443854	GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3	Likely pathogenic
4529494	NM_032834.4(ALG10):c.369+1G>T	Likely pathogenic

SpliceAI

515 predictions. Top by Δscore:

Variant	Effect	Δscore
12:34023953:A:AG	acceptor_gain	1.0000
12:34023958:AAAGT:A	acceptor_gain	1.0000
12:34023954:T:G	acceptor_gain	0.9900
12:34023958:A:AG	acceptor_gain	0.9900
12:34023959:A:G	acceptor_gain	0.9900
12:34023959:AAGT:A	acceptor_gain	0.9900
12:34023959:AAGTG:A	acceptor_gain	0.9900
12:34023960:A:AG	acceptor_gain	0.9900
12:34023960:AGT:A	acceptor_gain	0.9900
12:34023960:AGTG:A	acceptor_gain	0.9900
12:34023961:G:GG	acceptor_gain	0.9900
12:34023961:GT:G	acceptor_gain	0.9900
12:34023961:GTG:G	acceptor_gain	0.9900
12:34023961:GTGG:G	acceptor_gain	0.9900
12:34025860:A:AG	acceptor_gain	0.9900
12:34025861:A:G	acceptor_gain	0.9900
12:34023960:AGTGG:A	acceptor_gain	0.9800
12:34023961:GTGGG:G	acceptor_gain	0.9800
12:34025860:AAG:A	acceptor_gain	0.9800
12:34022472:TCCGG:T	donor_loss	0.9700
12:34022473:CCGG:C	donor_loss	0.9700
12:34022475:GGT:G	donor_loss	0.9700
12:34022477:T:A	donor_loss	0.9700
12:34022564:GGA:G	donor_gain	0.9700
12:34022565:GAG:G	donor_gain	0.9700
12:34022476:G:GG	donor_gain	0.9500
12:34023956:TTAAA:T	acceptor_loss	0.9500
12:34023957:TAAA:T	acceptor_loss	0.9500
12:34023958:AAAG:A	acceptor_loss	0.9500
12:34023959:AAG:A	acceptor_loss	0.9500

AlphaMissense

3112 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:34026050:G:C	R186P	0.998
12:34026559:T:C	F356L	0.998
12:34026561:C:A	F356L	0.998
12:34026561:C:G	F356L	0.998
12:34026910:T:A	W473R	0.998
12:34026910:T:C	W473R	0.998
12:34024080:G:C	R97T	0.997
12:34026548:G:C	R352T	0.997
12:34026548:G:T	R352I	0.997
12:34022720:C:G	H41D	0.996
12:34026067:T:A	W192R	0.996
12:34026067:T:C	W192R	0.996
12:34026541:G:C	D350H	0.996
12:34026549:A:C	R352S	0.996
12:34026549:A:T	R352S	0.996
12:34022712:A:T	E38V	0.995
12:34022717:T:C	F40L	0.995
12:34022719:C:A	F40L	0.995
12:34022719:C:G	F40L	0.995
12:34024081:A:C	R97S	0.995
12:34024081:A:T	R97S	0.995
12:34025915:C:G	P141R	0.995
12:34026542:A:T	D350V	0.995
12:34022708:G:C	D37H	0.994
12:34024080:G:T	R97I	0.994
12:34025915:C:A	P141Q	0.994
12:34026542:A:C	D350A	0.994
12:34026550:C:G	H353D	0.994
12:34022639:A:C	S14R	0.993
12:34022641:C:A	S14R	0.993

dbSNP variants (sampled 300 via entrez): RS1000087603 (12:34027877 C>A), RS1000118372 (12:34028173 G>A), RS1000191532 (12:34028391 A>G), RS1001462174 (12:34021972 T>G), RS1001535367 (12:34022251 T>C), RS1001729793 (12:34028488 G>A), RS1002468154 (12:34020530 AT>A), RS1003137494 (12:34023217 A>G), RS1005182669 (12:34020834 C>T), RS1007218705 (12:34026059 A>G), RS1008958450 (12:34028093 T>C), RS1009226983 (12:34022878 T>C), RS1009298007 (12:34027826 A>G), RS1009668947 (12:34023145 T>G), RS1010135104 (12:34028434 A>G)

Disease associations

OMIM: gene MIM:618355 | disease phenotypes: MIM:300884, MIM:608776, MIM:613688

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital disorder of glycosylation	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
congenital disorder of glycosylation	Limited	AR

Mondo (4): developmental and epileptic encephalopathy, 36 (MONDO:0010472), ALG9-congenital disorder of glycosylation (MONDO:0012117), long QT syndrome 2 (MONDO:0013367), congenital disorder of glycosylation (MONDO:0015286)

Orphanet (4): ALG13-CDG (Orphanet:324422), ALG9-CDG (Orphanet:79328), Romano-Ward syndrome (Orphanet:101016), Congenital long QT syndrome (Orphanet:768)

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST004136_36	Methadone dose in opioid dependence	9.000000e-06
GCST005788_28	Heart rate response to recovery post exercise	5.000000e-10
GCST005845_8	Heart rate increase in response to exercise	3.000000e-30
GCST005846_13	Heart rate response to recovery post exercise (10 sec)	5.000000e-66
GCST005847_14	Heart rate response to recovery post exercise (20 sec)	3.000000e-58
GCST005848_2	Heart rate response to recovery post exercise (50 sec)	8.000000e-54
GCST005849_5	Heart rate response to recovery post exercise (40 sec)	2.000000e-57
GCST005850_11	Heart rate response to recovery post exercise (30 sec)	4.000000e-56
GCST007565_118	Morning person	1.000000e-31
GCST007565_131	Morning person	1.000000e-27
GCST007565_152	Morning person	7.000000e-28
GCST007565_199	Morning person	8.000000e-28
GCST007565_200	Morning person	7.000000e-31
GCST007565_203	Morning person	1.000000e-33
GCST007565_204	Morning person	3.000000e-35
GCST007565_206	Morning person	3.000000e-35
GCST007565_212	Morning person	3.000000e-40
GCST007565_71	Morning person	4.000000e-22
GCST007576_332	Chronotype	3.000000e-40
GCST010244_439	Triglyceride levels	2.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007907	methadone dose measurement
EFO:0009185	heart rate response to recovery post exercise
EFO:0009184	heart rate response to exercise
EFO:0008328	chronotype measurement
EFO:0004530	triglyceride measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D018981	Congenital Disorders of Glycosylation	C16.320.565.202.125; C18.452.648.202.125
C535750	Congenital disorder of glycosylation type 1L (supp.)
C563614	Long Qt Syndrome 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1705772	Toxicity	3	gemcitabine

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1705772	ALG10	3	2.00	1	gemcitabine

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
trichostatin A	affects expression	1
sodium arsenite	increases abundance, increases expression	1
abrine	decreases expression	1
Vorinostat	increases expression	1
Arsenic	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Nickel	increases expression	1
Quercetin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

11 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
NCT07277582	PHASE2/PHASE3	RECRUITING	Evaluation of Efficacy and Safety of THRV-1268 in Long QT Syndrome Type 2 (LQTS 2)
NCT07075445	Not specified	RECRUITING	Observational Study to Describe Health-Related Quality of Life and Measure Disease Burden Among Patients With Long QT Syndrome Types (LQTS) 2 and 3