MPI

Summary

MPI (mannose phosphate isomerase, HGNC:7216) is a protein-coding gene on chromosome 15q24.1, encoding Mannose-6-phosphate isomerase (P34949). Isomerase that catalyzes the interconversion of fructose-6-P and mannose-6-P and has a critical role in the supply of D-mannose derivatives required for many eukaryotic glycosylation reactions.

Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 4351 — RefSeq curated summary.

At a glance

• Gene–disease (curated): MPI-congenital disorder of glycosylation (Definitive, ClinGen)
• GWAS associations: 20
• Clinical variants (ClinVar): 614 total — 37 pathogenic, 86 likely-pathogenic
• Phenotypes (HPO): 38
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_002435

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7216
Approved symbol	MPI
Name	mannose phosphate isomerase
Location	15q24.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000178802
Ensembl biotype	protein_coding
OMIM	154550
Entrez	4351

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 21 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000323744, ENST00000352410, ENST00000535694, ENST00000561470, ENST00000562606, ENST00000562800, ENST00000563422, ENST00000563786, ENST00000564003, ENST00000564633, ENST00000564692, ENST00000565576, ENST00000566377, ENST00000566556, ENST00000567116, ENST00000567132, ENST00000567177, ENST00000567570, ENST00000568303, ENST00000568828, ENST00000568840, ENST00000568907, ENST00000569233, ENST00000569931, ENST00000897793, ENST00000940246, ENST00000967445

RefSeq mRNA: 5 — MANE Select: NM_002435 NM_001289155, NM_001289156, NM_001289157, NM_001330372, NM_002435

CCDS: CCDS10272, CCDS73756, CCDS73757, CCDS73758, CCDS81908

Canonical transcript exons

ENST00000352410 — 8 exons

Exon	Start	End
ENSE00001245539	74897011	74897219
ENSE00001245546	74896152	74896325
ENSE00001816780	74897512	74902219
ENSE00003468114	74892661	74892802
ENSE00003476529	74890527	74890654
ENSE00003507946	74890042	74890089
ENSE00003620329	74891379	74891579
ENSE00003622704	74893138	74893320

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 95.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.6045 / max 112.2348, expressed in 1782 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147742	22.6045	1782

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	95.26	gold quality
mucosa of transverse colon	UBERON:0004991	95.12	gold quality
right adrenal gland	UBERON:0001233	95.02	gold quality
right adrenal gland cortex	UBERON:0035827	94.49	gold quality
left adrenal gland	UBERON:0001234	94.09	gold quality
left adrenal gland cortex	UBERON:0035825	93.74	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.38	gold quality
prefrontal cortex	UBERON:0000451	93.22	gold quality
right frontal lobe	UBERON:0002810	93.20	gold quality
cingulate cortex	UBERON:0003027	92.91	gold quality
anterior cingulate cortex	UBERON:0009835	92.87	gold quality
adrenal gland	UBERON:0002369	92.58	gold quality
ventricular zone	UBERON:0003053	92.42	gold quality
rectum	UBERON:0001052	92.33	gold quality
colonic epithelium	UBERON:0000397	92.24	gold quality
right atrium auricular region	UBERON:0006631	92.22	gold quality
adrenal tissue	UBERON:0018303	92.04	gold quality
gastrocnemius	UBERON:0001388	91.94	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.90	gold quality
adrenal cortex	UBERON:0001235	91.78	gold quality
Brodmann (1909) area 10	UBERON:0013541	91.74	gold quality
muscle of leg	UBERON:0001383	91.63	gold quality
heart left ventricle	UBERON:0002084	91.52	gold quality
gall bladder	UBERON:0002110	91.45	gold quality
transverse colon	UBERON:0001157	91.33	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.33	gold quality
cardiac ventricle	UBERON:0002082	90.85	gold quality
right lobe of liver	UBERON:0001114	90.80	gold quality
right ovary	UBERON:0002118	90.80	gold quality
right uterine tube	UBERON:0001302	90.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

76 targeting MPI, 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-4455	100.00	65.48	1587
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-24-3P	99.59	69.97	1934

Literature-anchored findings (GeneRIF, showing 6)

• The mannose-6-phosphate-enzyme complex is developed and the key residues involved in the ligand binding are determined. Our results suggest a hydride transfer mechanism of alpha-hydrogen between the C1 and C2 positions. (PMID:16488169)
• Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts (PMID:21949237)
• This work provides mechanistic evidence by which mannose phosphate isomerase loss induces p53, and identifies mannose phosphate isomerase as a novel regulator of p53 and Warburg metabolism. (PMID:28644127)
• MPI loss is a driver of liver fibrosis and suggest that modulating mannose metabolism pathways could reduce hepatic stellate cell activation and improve hepatic fibrosis. (PMID:31016744)
• MPI-based bioinformatic analysis and co-inhibitory therapy with mannose for oral squamous cell carcinoma. (PMID:34313879)
• Selective Immobilization of His-Tagged Phosphomannose Isomerase on Ni Chelated Nanoparticles with Good Reusability and Activity. (PMID:34958513)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mpi	ENSDARG00000030786
mus_musculus	Mpi	ENSMUSG00000032306
rattus_norvegicus	Mpi	ENSRNOG00000018898
drosophila_melanogaster	Mpi	FBGN0286506
caenorhabditis_elegans		WBGENE00014013
caenorhabditis_elegans		WBGENE00015464

Protein

Protein identifiers

Mannose-6-phosphate isomerase — P34949 (reviewed: P34949)

Alternative names: Phosphohexomutase, Phosphomannose isomerase

All UniProt accessions (18): B4DYB8, P34949, F5GX71, H3BM77, H3BMZ9, H3BN01, H3BNY8, H3BP57, H3BPB8, H3BPM5, H3BPP3, H3BPU7, H3BQX0, H3BT46, H3BT48, H3BU66, H3BUG1, H3BUZ9

UniProt curated annotations — full annotation on UniProt →

Function. Isomerase that catalyzes the interconversion of fructose-6-P and mannose-6-P and has a critical role in the supply of D-mannose derivatives required for many eukaryotic glycosylation reactions.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.

Disease relevance. Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 zinc ion per subunit.

Pathway. Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 1/2.

Similarity. Belongs to the mannose-6-phosphate isomerase type 1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P34949-1	1	yes
P34949-2	2

RefSeq proteins (5): NP_001276084, NP_001276085, NP_001276086, NP_001317301, NP_002426* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001250	Man6P_Isoase-1	Family
IPR011051	RmlC_Cupin_sf	Homologous_superfamily
IPR014710	RmlC-like_jellyroll	Homologous_superfamily
IPR016305	Mannose-6-P_Isomerase	Family
IPR018050	Pmannose_isomerase-type1_CS	Conserved_site
IPR046456	PMI_typeI_C	Domain
IPR046457	PMI_typeI_cat	Domain
IPR046458	PMI_typeI_hel	Domain

Pfam: PF01238, PF20511, PF20512

Catalyzed reactions (Rhea), 1 shown:

• D-mannose 6-phosphate = D-fructose 6-phosphate (RHEA:12356)

UniProt features (24 total): sequence variant 13, binding site 4, modified residue 3, initiator methionine 1, chain 1, splice variant 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P34949-F1	96.50	0.97

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 295

Ligand- & substrate-binding residues (4): 110; 112; 137; 276

Post-translational modifications (3): 2, 102, 108

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-4043916	Defective MPI causes MPI-CDG
R-HSA-446205	Synthesis of GDP-mannose
R-HSA-1643685	Disease
R-HSA-3781865	Diseases of glycosylation
R-HSA-392499	Metabolism of proteins
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-446219	Synthesis of substrates in N-glycan biosythesis
R-HSA-5609975	Diseases associated with glycosylation precursor biosynthesis
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 225 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, AACYNNNNTTCCS_UNKNOWN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, BROWNE_HCMV_INFECTION_14HR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, WINTER_HYPOXIA_METAGENE, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS

GO Biological Process (4): GDP-mannose biosynthetic process (GO:0009298), mannose to fructose-6-phosphate catabolic process (GO:0061611), obsolete GDP-D-mannose biosynthetic process from fructose-6-phosphate (GO:0061729), carbohydrate metabolic process (GO:0005975)

GO Molecular Function (5): mannose-6-phosphate isomerase activity (GO:0004476), zinc ion binding (GO:0008270), protein binding (GO:0005515), isomerase activity (GO:0016853), metal ion binding (GO:0046872)

GO Cellular Component (3): cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Diseases associated with glycosylation precursor biosynthesis	1
Synthesis of substrates in N-glycan biosythesis	1
Diseases of metabolism	1
Asparagine N-linked glycosylation	1
Post-translational protein modification	1
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	1
Diseases of glycosylation	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
phosphomannomutase activity	1
nucleotide-sugar biosynthetic process	1
GDP-mannose metabolic process	1
mannose-6-phosphate isomerase activity	1
fructose 6-phosphate metabolic process	1
mannokinase activity	1
mannose catabolic process	1
primary metabolic process	1
intramolecular oxidoreductase activity, interconverting aldoses and ketoses	1
transition metal ion binding	1
binding	1
catalytic activity	1
cation binding	1
cytoplasm	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1594 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPI	PMM2	O15305	955
MPI	GPI	P06744	933
MPI	SRD5A3	Q9H8P0	859
MPI	H6PD	O95479	789
MPI	G6PD	P11413	787
MPI	PGD	P52209	775
MPI	GUSB	P08236	758
MPI	ALG12	Q9BV10	704
MPI	SERPINC1	P01008	671
MPI	GALE	Q14376	641
MPI	GMPPB	Q9Y5P6	627
MPI	PGM1	P36871	612
MPI	GMPPA	Q96IJ6	582
MPI	PGM3	O95394	565
MPI	ALG2	Q9H553	563

IntAct

16 interactions, top by confidence:

A	B	Type	Score
CPNE8	MPI	psi-mi:“MI:0915”(physical association)	0.400
NP	MPI	psi-mi:“MI:0915”(physical association)	0.370
MPI	BDKRB2	psi-mi:“MI:0915”(physical association)	0.370
MPI	CFTR	psi-mi:“MI:0915”(physical association)	0.370
KSR1	FBLL1	psi-mi:“MI:0914”(association)	0.350
SAR1B	UBA6	psi-mi:“MI:0914”(association)	0.350
P2RY10	POTEF	psi-mi:“MI:0914”(association)	0.350
MPI	SERPINA3	psi-mi:“MI:0914”(association)	0.350
ANLN	UBA6	psi-mi:“MI:0914”(association)	0.350
SERBP1	UBA6	psi-mi:“MI:0914”(association)	0.350
OPTN	SMCHD1	psi-mi:“MI:0914”(association)	0.350
STING1	SMCHD1	psi-mi:“MI:0914”(association)	0.350
MAGEF1	SMCHD1	psi-mi:“MI:0914”(association)	0.350
CFAP263	SPTBN2	psi-mi:“MI:0914”(association)	0.350
MPI	ADA	psi-mi:“MI:0914”(association)	0.350

BioGRID (61): TGM1 (Affinity Capture-MS), IVL (Affinity Capture-MS), S100A14 (Affinity Capture-MS), MIF (Co-fractionation), MPI (Co-fractionation), MPI (Co-fractionation), MPI (Co-fractionation), MPI (Co-fractionation), MPI (Co-fractionation), MPI (Co-fractionation), MPI (Co-fractionation), MPI (Co-fractionation), MPI (Co-fractionation), NECAP1 (Co-fractionation), NECAP2 (Co-fractionation)

ESM2 similar proteins: A2VDC2, A5A6K3, D4AAT7, O35952, P00937, P34949, P40939, Q01415, Q08B22, Q09669, Q1PEY5, Q1ZXF1, Q28C91, Q28FR6, Q29554, Q2HJ73, Q2TAA5, Q3KRD0, Q3TZM9, Q42942, Q55GS6, Q561R9, Q58EB4, Q5EAD2, Q5F4K8, Q5HZQ8, Q5R6J8, Q5R7Z6, Q5XF59, Q5XIE6, Q5ZJ60, Q61753, Q64428, Q68FH4, Q68FX1, Q6NMB0, Q6NVY1, Q6PI48, Q84MD8, Q8BIP0

Diamond homologs: A5A6K3, O43014, P00946, P25081, P29951, P29952, P34650, P34948, P34949, Q3SZI0, Q54PA0, Q66WM4, Q68FX1, Q75AB5, Q76IQ2, Q83KZ1, Q870Y1, Q8HXX2, Q8J093, Q924M7, Q9FZH5, Q9GP38, Q9HFU4, Q9M884

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	37
Likely pathogenic	86
Uncertain significance	139
Likely benign	280
Benign	12

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071838	NM_002435.3(MPI):c.1034dup (p.Thr346fs)	Pathogenic
1366385	NM_002435.3(MPI):c.820dup (p.Val274fs)	Pathogenic
1367639	NM_002435.3(MPI):c.335_338del (p.His112fs)	Pathogenic
1370035	NM_002435.3(MPI):c.753del (p.Phe252fs)	Pathogenic
1376774	NM_002435.3(MPI):c.150G>A (p.Trp50Ter)	Pathogenic
1412273	NM_002435.3(MPI):c.647_650del (p.Leu215_Leu216insTer)	Pathogenic
14345	NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	Pathogenic
1444990	NM_002435.3(MPI):c.745dup (p.Ile249fs)	Pathogenic
1451527	NM_002435.3(MPI):c.1053+2T>C	Pathogenic
1457290	NM_002435.3(MPI):c.264del (p.Asp88fs)	Pathogenic
188967	NM_002435.3(MPI):c.166dup (p.Arg56fs)	Pathogenic
1961516	NM_002435.3(MPI):c.613G>T (p.Glu205Ter)	Pathogenic
2015644	NM_002435.3(MPI):c.1006_1007del (p.Ser336fs)	Pathogenic
2056193	NM_002435.3(MPI):c.764_776del (p.Tyr255fs)	Pathogenic
2086713	NM_002435.3(MPI):c.706dup (p.Glu236fs)	Pathogenic
2109971	NM_002435.3(MPI):c.1137_1140del (p.Ser380fs)	Pathogenic
2174331	NM_002435.3(MPI):c.989_1005dup (p.Ser336fs)	Pathogenic
218094	NM_002435.3(MPI):c.1205A>G (p.Glu402Gly)	Pathogenic
2735509	NM_002435.3(MPI):c.206del (p.Lys69fs)	Pathogenic
2743321	NM_002435.3(MPI):c.612_615del (p.Ser204fs)	Pathogenic
2744685	NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)	Pathogenic
2750988	NM_002435.3(MPI):c.490del (p.Val164fs)	Pathogenic
2759540	NM_002435.3(MPI):c.1166del (p.Pro389fs)	Pathogenic
2769293	NM_002435.3(MPI):c.43C>T (p.Gln15Ter)	Pathogenic
2772652	NM_002435.3(MPI):c.65del (p.Gly22fs)	Pathogenic
2802194	NM_002435.3(MPI):c.1058del (p.Pro353fs)	Pathogenic
2817891	NM_002435.3(MPI):c.751del (p.Cys251fs)	Pathogenic
2823076	NM_002435.3(MPI):c.370dup (p.Gln124fs)	Pathogenic
2824025	NM_002435.3(MPI):c.222G>A (p.Trp74Ter)	Pathogenic
2837872	NM_002435.3(MPI):c.44del (p.Gln15fs)	Pathogenic

SpliceAI

1805 predictions. Top by Δscore:

Variant	Effect	Δscore
15:74890525:A:AG	acceptor_gain	1.0000
15:74890526:G:GG	acceptor_gain	1.0000
15:74890652:GAG:G	donor_gain	1.0000
15:74890655:G:GA	donor_loss	1.0000
15:74890656:T:A	donor_loss	1.0000
15:74892647:T:TA	acceptor_gain	1.0000
15:74892648:G:A	acceptor_gain	1.0000
15:74892653:C:G	acceptor_gain	1.0000
15:74892656:CACA:C	acceptor_loss	1.0000
15:74892657:ACAG:A	acceptor_gain	1.0000
15:74892658:CA:C	acceptor_loss	1.0000
15:74892659:A:AG	acceptor_gain	1.0000
15:74892659:AG:A	acceptor_gain	1.0000
15:74892660:G:GA	acceptor_gain	1.0000
15:74892660:GG:G	acceptor_gain	1.0000
15:74892660:GGA:G	acceptor_gain	1.0000
15:74892776:T:G	donor_gain	1.0000
15:74892799:AAGA:A	donor_gain	1.0000
15:74892800:AGA:A	donor_gain	1.0000
15:74892801:GA:G	donor_gain	1.0000
15:74892801:GAG:G	donor_gain	1.0000
15:74892801:GAGT:G	donor_loss	1.0000
15:74892802:AGTA:A	donor_loss	1.0000
15:74892803:G:GG	donor_gain	1.0000
15:74892803:GT:G	donor_loss	1.0000
15:74893136:A:AG	acceptor_gain	1.0000
15:74893137:G:GG	acceptor_gain	1.0000
15:74893331:T:G	donor_gain	1.0000
15:74890526:GT:G	acceptor_gain	0.9900
15:74890526:GTA:G	acceptor_gain	0.9900

AlphaMissense

2776 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:74891568:C:G	H112D	0.998
15:74892720:G:C	K135N	0.998
15:74892720:G:T	K135N	0.998
15:74890562:T:A	W18R	0.997
15:74890562:T:C	W18R	0.997
15:74891530:A:T	K99I	0.997
15:74897047:T:A	V294D	0.997
15:74891531:A:C	K99N	0.996
15:74891531:A:T	K99N	0.996
15:74891570:C:A	H112Q	0.996
15:74891570:C:G	H112Q	0.996
15:74892718:A:G	K135E	0.996
15:74896307:C:G	H276D	0.996
15:74896310:G:C	A277P	0.996
15:74897042:C:A	N292K	0.996
15:74897042:C:G	N292K	0.996
15:74897050:G:C	R295P	0.996
15:74897199:T:C	F345L	0.996
15:74897201:C:A	F345L	0.996
15:74897201:C:G	F345L	0.996
15:74897711:G:C	R418P	0.996
15:74890564:G:C	W18C	0.995
15:74890564:G:T	W18C	0.995
15:74891382:T:A	W50R	0.995
15:74891382:T:C	W50R	0.995
15:74892726:G:C	E137D	0.995
15:74892726:G:T	E137D	0.995
15:74892767:T:C	F151S	0.995
15:74897049:C:A	R295S	0.995
15:74890654:G:C	E48D	0.994

dbSNP variants (sampled 300 via entrez): RS1000271905 (15:74902662 CAGCAGG>C), RS1000475684 (15:74890514 T>C), RS1000757267 (15:74897104 G>C), RS1000961058 (15:74898246 A>G), RS1001297444 (15:74891519 C>T), RS1001668310 (15:74889568 C>T), RS1001707559 (15:74895286 C>A), RS1001715109 (15:74901620 G>A), RS1001753261 (15:74895544 G>A), RS1002114464 (15:74890763 G>A,C), RS1002184562 (15:74892146 A>G), RS1002632170 (15:74895682 G>A), RS1002640680 (15:74902318 G>A,C), RS1002704783 (15:74899862 C>G), RS1002733968 (15:74901965 A>C)

Disease associations

OMIM: gene MIM:154550 | disease phenotypes: MIM:602579

GenCC curated gene-disease

Disease	Classification	Inheritance
MPI-congenital disorder of glycosylation	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
MPI-congenital disorder of glycosylation	Definitive	AR

Mondo (1): MPI-congenital disorder of glycosylation (MONDO:0011257)

Orphanet (1): MPI-CDG (Orphanet:79319)

HPO phenotypes

38 total (30 of 38 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000107	Renal cyst
HP:0000114	Proximal tubulopathy
HP:0000707	Abnormality of the nervous system
HP:0000821	Hypothyroidism
HP:0000825	Hyperinsulinemic hypoglycemia
HP:0000969	Edema
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001290	Generalized hypotonia
HP:0001394	Cirrhosis
HP:0001395	Hepatic fibrosis
HP:0001399	Hepatic failure
HP:0001409	Portal hypertension
HP:0001410	Decreased liver function
HP:0001508	Failure to thrive
HP:0001892	Abnormal bleeding
HP:0001929	Reduced factor XI activity
HP:0001976	Reduced antithrombin III activity
HP:0001977	Abnormal thrombosis
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002239	Gastrointestinal hemorrhage
HP:0002240	Hepatomegaly
HP:0002243	Protein-losing enteropathy
HP:0002570	Steatorrhea
HP:0003073	Hypoalbuminemia
HP:0003256	Abnormality of the coagulation cascade
HP:0003593	Infantile onset
HP:0003642	Type I transferrin isoform profile

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST006190_13	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-16
GCST006190_2	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	8.000000e-21
GCST006190_53	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	1.000000e-21
GCST006190_83	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	7.000000e-25
GCST006192_50	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	5.000000e-15
GCST006192_57	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	2.000000e-18
GCST006192_73	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	1.000000e-12
GCST006192_84	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	2.000000e-13
GCST006193_35	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-24
GCST006193_46	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-18
GCST006193_74	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	4.000000e-24
GCST006193_84	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	3.000000e-27
GCST006195_17	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-16
GCST006195_35	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-15
GCST006195_66	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	3.000000e-15
GCST006195_76	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	4.000000e-20
GCST006231_65	Mean arterial pressure	2.000000e-15
GCST010796_5099	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_5100	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-09
GCST90002404_369	Red cell distribution width	1.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0004327	electrocardiography
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535740	Congenital disorder of glycosylation type 1B (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2758 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 18,515 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL3187985	APOMORPHINE HYDROCHLORIDE	4	5,278
CHEMBL51085	EBSELEN	3	13,237

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

Binding affinities (BindingDB)

322 measured of 684 human assays (720 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
2,6,7-trihydroxy-9-(2,4,5-trimethoxyphenyl)-3-xanthenone	EC50	258 nM
1,4-diketo-3-(4-methoxyphenyl)naphthalene-2-carboxylic acid ethyl ester	IC50	322 nM
2-methylbenzo-1,4-quinone 4-[O-(3,4,5-trimethoxybenzoyl)oxime]	IC50	623 nM
2-(4-fluorophenyl)-4,6-dinitro-1,2-benzothiazol-3-one	IC50	709 nM
(4E)-4-[[2-[2-(3,5-dimethylpyrazol-1-yl)-6-methyl-pyrimidin-4-yl]hydrazinyl]methylidene]-3-oxidanyl-cyclohexa-2,5-dien-1-one	EC50	831 nM
(Z)-(4-chlorodithiazol-5-ylidene)-(5-methyl-1,3,4-oxadiazol-2-yl)amine	IC50	1070 nM
5-hydroxy-4-[[4-(2-hydroxyethyl)-1-piperazinyl]methyl]-2-methyl-3-benzo[g]benzofurancarboxylic acid ethyl ester	IC50	1130 nM
1-ethyl-5-methyl-4-[(phenylsulfonyl)methyl]-1,3-dihydro-2H-imidazol-2-one	IC50	1230 nM
2-(2-fluorophenyl)-4,6-dinitro-1,2-benzothiazol-3-one	IC50	1450 nM
MLS000392355	IC50	1490 nM
MLS-0315804.0001	IC50	1590 nM
1,3,6-Trimethyl-1H-pyrimido[5,4-e][1,2,4]triazine-5,7-dione	EC50	1610 nM
1,6-dimethyl-3-propyl-pyrimido[5,4-e][1,2,4]triazine-5,7-dione	EC50	1770 nM
2-(4-chlorophenyl)-5-fluoranyl-1,2-benzothiazol-3-one	IC50	1770 nM
(4E)-4-[[[4-(2-furanyl)-2-(2-methoxyethylimino)-3-thiazolyl]amino]methylidene]-2,3-dihydroxy-1-cyclohexa-2,5-dienone	EC50	1810 nM
5-(3-chlorophenyl)-1,2-dihydro-1,2,4-triazole-3-thione	IC50	1940 nM
5-amino-N’-(4-chlorobenzylidene)-4-oxo-3-phenyl-3,4-dihydrothieno[3,4-d]pyridazine-1-carbohydrazide	IC50	1950 nM
MLS000548244	IC50	2100 nM
2-[4-[chloranyl-bis(fluoranyl)methoxy]phenyl]-4,6-dinitro-1,2-benzothiazol-3-one	IC50	2140 nM
(Z)-(4-chlorodithiazol-5-ylidene)-(1,3,4-thiadiazol-2-yl)amine	IC50	2300 nM
3-[3-(3-bromophenyl)-4-[(4,6-diketo-2-thioxo-hexahydropyrimidin-5-ylidene)methyl]pyrazol-1-yl]propionic acid	IC50	2390 nM
2-(4-chlorophenyl)-1,2-benzothiazol-3-one	IC50	2450 nM
4-bromanyl-2-(4-methoxyphenyl)-6-methyl-benzotriazol-5-amine	IC50	2530 nM
1-[[1-(4-methoxyphenyl)-3-pyrrolidinyl]methyl]-3-phenylurea	IC50	2580 nM
(3-chloro-4-ethoxy-5-methoxy-benzyl)-(4-pyrrolidinophenyl)amine	IC50	2690 nM
MLS000121202	IC50	2710 nM
MLS000684518	IC50	2720 nM
2-[(6,7-dihydroxy-2-keto-chromen-4-yl)methylthio]-3-(3-methoxyphenyl)quinazolin-4-one	IC50	2720 nM
(4E)-2,3-dihydroxy-4-[[(4-methyl-2-methylimino-1,3-thiazol-3-yl)amino]methylidene]cyclohexa-2,5-dien-1-one	IC50	2720 nM
7-[[4-(2-hydroxyethyl)-1-piperazinyl]-thiophen-2-ylmethyl]-8-quinolinol	IC50	2820 nM
2-(3-chloranyl-2-methyl-phenyl)-6-nitro-4-[2,2,2-tris(fluoranyl)ethoxy]-1,2-benzothiazol-3-one	IC50	3030 nM
2-(4-bromophenyl)-3-ethanoyl-naphthalene-1,4-dione	IC50	3130 nM
1-(3-methoxyphenyl)-3-[[1-(4-methoxyphenyl)-3-pyrrolidinyl]methyl]urea	IC50	3180 nM
(4-chlorodithiazol-5-ylidene)-(2-methoxy-4-nitro-phenyl)amine	IC50	3250 nM
2-(3-chlorophenyl)-1,2-benzothiazol-3-one	IC50	3430 nM
(+)-haematoxylin	IC50	3440 nM
(4-chlorodithiazol-5-ylidene)-(2,4-dinitrophenyl)amine	IC50	3520 nM
MLS000759648	IC50	3520 nM
2,6,7-Trihydroxy-9-methyl-xanthen-3-one	IC50	3600 nM
(3-chloro-4,5-dimethoxy-benzyl)-(4-pyrrolidinophenyl)amine	EC50	3720 nM
MLS000571067	IC50	3730 nM
6,7-bis(oxidanyl)-4-[[5-(3,4,5-trimethoxyphenyl)-1,3,4-oxadiazol-2-yl]sulfanylmethyl]chromen-2-one	IC50	3770 nM
5-Amino-4-cyano-3-methyl-thiophene-2-carboxylic acid [5-(2-nitro-phenyl)-furan-2-ylmethylene]-hydrazide	IC50	3780 nM
5-(2,3-dihydro-1,4-benzodioxin-3-yl)-1,2-dihydro-1,2,4-triazole-3-thione	IC50	3890 nM
4-[(3-carbethoxy-5-hydroxy-2-methyl-benzo[g]benzofuran-4-yl)methyl]piperazine-1-carboxylic acid ethyl ester	IC50	3950 nM
SMR000152103	IC50	4090 nM
4-[(4-chloranyl-1,2,3-dithiazol-5-ylidene)amino]benzenecarbonitrile	IC50	4140 nM
5-[(6-Bromo-2-hydroxy-naphthalen-1-ylmethylene)-amino]-1,3-dihydro-benzoimidazol-2-one	EC50	4150 nM
2-(3-methoxyphenyl)-1,2-benzothiazol-3-one	IC50	4190 nM
3,4,5-trihydroxy-N’-((1E)-{4-methoxy-3-[(4-nitro-1H-pyrazol-1-yl)methyl]phenyl}methylene)benzohydrazide	IC50	4310 nM

ChEMBL bioactivities

170 potent at pChembl≥5 of 395 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.72	IC50	190	nM	EBSELEN
6.57	IC50	270	nM	CHEMBL1410147
6.15	IC50	710	nM	CHEMBL1333250
6.15	IC50	707	nM	CHEMBL1333250
6.15	IC50	709	nM	CHEMBL1714665
6.08	IC50	828.8	nM	CHEMBL1993627
6.01	IC50	985	nM	CHEMBL1725120
6.00	IC50	1000	nM	CHEMBL1706034
6.00	IC50	1000	nM	CHEMBL1725120
6.00	IC50	1000	nM	CHEMBL1314602
5.99	IC50	1030	nM	CHEMBL1314602
5.97	IC50	1070	nM	CHEMBL1732102
5.96	IC50	1100	nM	CHEMBL1725120
5.91	IC50	1227	nM	CHEMBL1390840
5.90	IC50	1250	nM	CHEMBL1406130
5.89	IC50	1300	nM	CHEMBL1703200
5.89	IC50	1273	nM	CHEMBL1392651
5.89	IC50	1300	nM	CHEMBL1406130
5.85	IC50	1423	nM	CHEMBL1335945
5.84	IC50	1450	nM	CHEMBL1732623
5.83	IC50	1490	nM	CHEMBL1520143
5.82	IC50	1499	nM	CHEMBL1410147
5.80	IC50	1590	nM	CHEMBL1725977
5.78	IC50	1670	nM	CHEMBL1449845
5.75	IC50	1770	nM	CHEMBL1701846
5.75	IC50	1800	nM	CHEMBL1701846
5.73	IC50	1880	nM	CHEMBL1601716
5.72	IC50	1900	nM	CHEMBL98386
5.72	IC50	1900	nM	CHEMBL1714438
5.72	IC50	1900	nM	CHEMBL1601716
5.71	IC50	1940	nM	CHEMBL1352830
5.68	IC50	2101	nM	CHEMBL1392651
5.67	IC50	2140	nM	CHEMBL1717022
5.65	IC50	2250	nM	CHEMBL1411202
5.64	IC50	2300	nM	CHEMBL1411202
5.64	IC50	2300	nM	CHEMBL1717825
5.61	IC50	2450	nM	CHEMBL98386
5.58	IC50	2600	nM	CHEMBL1371792
5.58	IC50	2650	nM	CHEMBL1391552
5.57	IC50	2708	nM	CHEMBL3199050
5.57	IC50	2680	nM	CHEMBL1553163
5.55	IC50	2800	nM	CHEMBL1339149
5.55	IC50	2790	nM	CHEMBL1339149
5.54	IC50	2905	nM	CHEMBL1310318
5.54	IC50	2910	nM	CHEMBL1321637
5.54	IC50	2900	nM	CHEMBL1310318
5.52	IC50	3030	nM	CHEMBL1726776
5.51	IC50	3100	nM	CHEMBL1423690
5.51	IC50	3100	nM	CHEMBL1717825
5.51	IC50	3120	nM	CHEMBL1718013

PubChem BioAssay actives

49 with measured affinity, of 69 total; 39 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
2-[[3-(3-oxo-1,2-benzothiazol-2-yl)phenyl]sulfonylamino]benzoic acid	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	0.7100	uM
2-(2,5-dimethylphenyl)-6-fluoro-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	1.0000	uM
6-fluoro-2-(4-methoxyphenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	1.0000	uM
5-fluoro-2-(4-methoxyphenyl)-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	1.0000	uM
6-fluoro-2-phenyl-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	1.3000	uM
5-fluoro-2-phenyl-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	1.3000	uM
2-(4-chlorophenyl)-5-fluoro-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	1.8000	uM
2-(4-chlorophenyl)-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	1.9000	uM
2-(2,5-dimethylphenyl)-5-fluoro-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	1.9000	uM
2-[4-(dimethylamino)phenyl]-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	1.9000	uM
N-benzyl-3-(3-oxo-1,2-benzothiazol-2-yl)benzamide	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	2.3000	uM
2-(2-morpholin-4-yl-5-morpholin-4-ylsulfonylphenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	2.6000	uM
N,N-dimethyl-3-(3-oxo-1,2-benzothiazol-2-yl)benzenesulfonamide	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	2.8000	uM
6-fluoro-2-(2-methylphenyl)-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	2.9000	uM
2-(4-methyl-3-piperidin-1-ylsulfonylphenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	3.1000	uM
3-(3-oxo-1,2-benzothiazol-2-yl)benzoic acid	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	3.3000	uM
2-[3-(trifluoromethyl)phenyl]-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	3.4000	uM
2-(4-fluorophenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	3.4000	uM
6-fluoro-2-(4-fluorophenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	3.6000	uM
5-fluoro-2-(4-fluorophenyl)-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	3.6000	uM
2-(3-methoxyphenyl)-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	3.7000	uM
2-(4-methylphenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	3.9000	uM
2-[4-(2,4-dichlorophenoxy)butanoylamino]-1,3-dihydroindene-2-carboxamide	225397: Compound was evaluated for the inhibition constant against phosphomannose isomerase enzyme of Candida albicans (CaPMI)	ki	4.0000	uM
2-[4-(3,4-dichlorophenyl)sulfanylbutanoylamino]-N-hydroxy-1,3-dihydroindene-2-carboxamide	225397: Compound was evaluated for the inhibition constant against phosphomannose isomerase enzyme of Candida albicans (CaPMI)	ki	4.0000	uM
2-(3-iodophenyl)-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	4.3000	uM
5-fluoro-2-(2-fluorophenyl)-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	4.3000	uM
2-(3-chlorophenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	4.8000	uM
methyl 3-(3-oxo-1,2-benzothiazol-2-yl)benzoate	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	4.9000	uM
2-(4-tert-butylphenyl)-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	5.0000	uM
2-(3-methylphenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	6.0000	uM
2-phenyl-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	6.4000	uM
2-(2,5-dimethylphenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	6.6000	uM
ethyl 4-(3-oxo-1,2-benzothiazol-2-yl)benzoate	597374: Inhibition of human purified phosphomannose isomerase	ic50	7.2000	uM
2-(5-morpholin-4-ylsulfonyl-2-pyrrolidin-1-ylphenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	7.5000	uM
5-fluoro-2-(3-fluorophenyl)-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	8.3000	uM
2-[3-(dimethylamino)phenyl]-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	8.5000	uM
2-(4-chloro-3-morpholin-4-ylsulfonylphenyl)-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	8.6000	uM
2-naphthalen-2-yl-1,2-benzothiazol-3-one	597374: Inhibition of human purified phosphomannose isomerase	ic50	9.4000	uM
2-(2,3-dimethylphenyl)-6-fluoro-1,2-benzothiazol-3-one	1187642: Inhibition of phosphomannose isomerase (unknown origin)	ic50	9.9000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression, decreases reaction, increases abundance	3
sodium arsenite	decreases expression, increases abundance	2
Arsenic	increases methylation, decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
p-Chloromercuribenzoic Acid	decreases expression, affects cotreatment	2
aristolochic acid I	decreases expression	1
ginger extract	decreases expression, decreases reaction, increases abundance	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
cupric chloride	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Amiodarone	increases expression	1

ChEMBL screening assays

14 unique, capped per target: 14 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1613774	Binding	PUBCHEM_BIOASSAY: Confirmation of compounds inhibiting phosphomannose isomerase (PMI) via a fluorescence intensity assay using a high concentration of mannose 6-phosphate. (Class of assay: confirmatory) [Related pubchem assays (depositor de	PubChem BioAssay data set

Cellosaurus cell lines

5 cell lines: 3 cancer cell line, 1 transformed cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_B9W3	Abcam HEK293T MPI KO	Transformed cell line	Female
CVCL_C9JJ	SDQLCHi059-A	Induced pluripotent stem cell	Female
CVCL_E1IV	HyCyte A-549 KO-hMPI	Cancer cell line	Male
CVCL_SY81	HAP1 MPI (-) 1	Cancer cell line	Male
CVCL_SY82	HAP1 MPI (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03404869	PHASE1/PHASE2	UNKNOWN	Study of ORL-1M (D-mannose) in Patients With CDG-Ib
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns