MAN1A2

Summary

MAN1A2 (mannosidase alpha class 1A member 2, HGNC:6822) is a protein-coding gene on chromosome 1p12, encoding Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB (O60476). Involved in the maturation of Asn-linked oligosaccharides.

Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.

Source: NCBI Gene 10905 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_006699

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6822
Approved symbol	MAN1A2
Name	mannosidase alpha class 1A member 2
Location	1p12
Locus type	gene with protein product
Status	Approved
Aliases	MAN1B
Ensembl gene	ENSG00000198162
Ensembl biotype	protein_coding
OMIM	604345
Entrez	10905

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000356554, ENST00000421535, ENST00000422329, ENST00000449370, ENST00000482811

RefSeq mRNA: 1 — MANE Select: NM_006699 NM_006699

CCDS: CCDS895

Canonical transcript exons

ENST00000356554 — 13 exons

Exon	Start	End
ENSE00000913387	117522825	117528872
ENSE00000913388	117502855	117502970
ENSE00000913389	117499382	117499554
ENSE00001630029	117420569	117420649
ENSE00001635177	117402186	117402441
ENSE00001711012	117493147	117493262
ENSE00001735905	117496763	117496982
ENSE00001737264	117460489	117460612
ENSE00001773850	117466334	117466427
ENSE00001776307	117405549	117405645
ENSE00001782196	117442231	117442325
ENSE00002687723	117367449	117368485
ENSE00003528662	117414713	117414831

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 97.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.4673 / max 597.0157, expressed in 1770 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4873	12.9948	1756
4882	1.2920	346
4874	0.4304	206
4881	0.2977	70
4871	0.2927	143
4872	0.1597	54

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	97.78	gold quality
endothelial cell	CL:0000115	97.56	gold quality
choroid plexus epithelium	UBERON:0003911	96.73	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.65	gold quality
parietal pleura	UBERON:0002400	95.53	gold quality
pleura	UBERON:0000977	95.46	gold quality
epithelium of nasopharynx	UBERON:0001951	95.40	gold quality
visceral pleura	UBERON:0002401	95.34	gold quality
placenta	UBERON:0001987	94.74	gold quality
superficial temporal artery	UBERON:0001614	94.42	gold quality
upper leg skin	UBERON:0004262	94.24	gold quality
skin of hip	UBERON:0001554	94.23	gold quality
corpus epididymis	UBERON:0004359	94.13	gold quality
entorhinal cortex	UBERON:0002728	94.02	gold quality
mammary duct	UBERON:0001765	94.01	gold quality
CA1 field of hippocampus	UBERON:0003881	93.84	gold quality
epithelium of mammary gland	UBERON:0003244	93.73	gold quality
hair follicle	UBERON:0002073	93.70	gold quality
postcentral gyrus	UBERON:0002581	93.70	gold quality
cranial nerve II	UBERON:0000941	93.56	gold quality
gingival epithelium	UBERON:0001949	93.53	gold quality
pigmented layer of retina	UBERON:0001782	93.49	gold quality
orbitofrontal cortex	UBERON:0004167	93.47	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.37	gold quality
parietal lobe	UBERON:0001872	93.22	gold quality
calcaneal tendon	UBERON:0003701	93.18	gold quality
tongue squamous epithelium	UBERON:0006919	92.75	gold quality
caput epididymis	UBERON:0004358	92.73	gold quality
germinal epithelium of ovary	UBERON:0001304	92.71	gold quality
cauda epididymis	UBERON:0004360	92.60	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

232 targeting MAN1A2, 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-3163	100.00	77.23	8605
HSA-MIR-1252-5P	100.00	69.80	2774
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-9-5P	100.00	72.28	2361
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 2)

• Hsa_circ_0000119 promoted ovarian cancer development via enhancing the methylation of CDH13 by sponging miR-142-5p. (PMID:36482494)
• Circular RNA circMAN1A2 promotes ovarian cancer progression through the microRNA-135a-3p/IL1RAP/TAK1 pathway. (PMID:38680890)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	man1a2	ENSDARG00000041728
mus_musculus	Man1a2	ENSMUSG00000008763
rattus_norvegicus	Man1a2	ENSRNOG00000015226
drosophila_melanogaster	Edem2	FBGN0032480
drosophila_melanogaster	alpha-Man-Ic	FBGN0051202
drosophila_melanogaster	alpha-Man-Ia	FBGN0259170
caenorhabditis_elegans		WBGENE00008258
caenorhabditis_elegans		WBGENE00013919

Paralogs (6): EDEM2 (ENSG00000088298), MAN1A1 (ENSG00000111885), EDEM3 (ENSG00000116406), MAN1C1 (ENSG00000117643), EDEM1 (ENSG00000134109), MAN1B1 (ENSG00000177239)

Protein

Protein identifiers

Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB — O60476 (reviewed: O60476)

Alternative names: Mannosidase alpha class 1A member 2, Processing alpha-1,2-mannosidase IB

All UniProt accessions (4): O60476, H0Y543, H0Y7H1, Q5T9E3

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2).

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Highest levels of expression in placenta and testis.

Activity regulation. Inhibited by both 1-deoxymannojirimycin and kifunensine.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyl hydrolase 47 family.

RefSeq proteins (1): NP_006690* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001382	Glyco_hydro_47	Family
IPR012341	6hp_glycosidase-like_sf	Homologous_superfamily
IPR036026	Seven-hairpin_glycosidases	Homologous_superfamily
IPR050749	Glycosyl_Hydrolase_47	Family

Pfam: PF01532

Enzyme classification (BRENDA):

• EC 3.2.1.113 — mannosyl-oligosaccharide 1,2-alpha-mannosidase (BRENDA: 27 organisms, 103 substrates, 103 inhibitors, 15 Km, 4 kcat entries)

Substrate kinetics (BRENDA)

9 substrates with measured Km, best-characterized 9. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
MANALPHA(1,2)MAN-O-ME	0.296–0.78	4
4-METHYLUMBELLIFERYL ALPHA-D-MANNOPYRANOSIDE	0.07–0.09	2
ALPHA-1,2-MANNOBIOSE	0.456	1
MAN6GLCNAC	0.26	1
MAN8GLCNAC	0.1	1
MAN9GLCNAC2-[THYROGLOBULIN]	0.2	1
MANALPHA(1-2)MANALPHA(1-3)MANBETA(1-4)GLCNAC	1.25	1
MANNOBIOSE	0.67	1
P-NITROPHENYL-ALPHA-D-MANNOSIDE	0.087	1

Catalyzed reactions (Rhea), 2 shown:

• N(4)-(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)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 9A1,2,3B1,2,3) + 4 H2O = N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2) + 4 beta-D-mannose (RHEA:56008)
• N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[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)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 8A1,2,3B1,3) + 3 H2O = N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2) + 3 beta-D-mannose (RHEA:56028)

UniProt features (11 total): topological domain 2, initiator methionine 1, chain 1, disulfide bond 1, transmembrane region 1, region of interest 1, active site 1, binding site 1, modified residue 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60476-F1	85.76	0.69

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): 508 (proton donor)

Ligand- & substrate-binding residues (1): 619

Post-translational modifications (1): 2

Disulfide bonds (1): 462–494

Glycosylation sites (1): 631

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-6811438	Intra-Golgi traffic
R-HSA-964827	Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
R-HSA-199991	Membrane Trafficking
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5653656	Vesicle-mediated transport
R-HSA-597592	Post-translational protein modification
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-948021	Transport to the Golgi and subsequent modification
R-HSA-964739	N-glycan trimming and elongation in the cis-Golgi

MSigDB gene sets: 230 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GCACCTT_MIR18A_MIR18B, GOBP_N_GLYCAN_PROCESSING, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, FISCHER_G1_S_CELL_CYCLE, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, KEGG_N_GLYCAN_BIOSYNTHESIS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MITSIADES_RESPONSE_TO_APLIDIN_DN, REACTOME_MEMBRANE_TRAFFICKING, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS

GO Biological Process (8): carbohydrate metabolic process (GO:0005975), N-glycan processing (GO:0006491), respiratory gaseous exchange by respiratory system (GO:0007585), ERAD pathway (GO:0036503), lung alveolus development (GO:0048286), Golgi apparatus N-glycan mannose trimming (GO:1904381), obsolete protein glycosylation (GO:0006486), glycoprotein metabolic process (GO:0009100)

GO Molecular Function (5): mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571), calcium ion binding (GO:0005509), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798), metal ion binding (GO:0046872)

GO Cellular Component (5): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), membrane (GO:0016020), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1
N-glycan trimming and elongation in the cis-Golgi	1
Vesicle-mediated transport	1
Post-translational protein modification	1
Metabolism of proteins	1
Membrane Trafficking	1
Asparagine N-linked glycosylation	1
Transport to the Golgi and subsequent modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
primary metabolic process	1
protein N-linked glycosylation	1
glycoprotein biosynthetic process	1
multicellular organismal process	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
lung development	1
anatomical structure development	1
N-glycan processing	1
protein metabolic process	1
carbohydrate derivative metabolic process	1
mannosyl-oligosaccharide mannosidase activity	1
metal ion binding	1
catalytic activity	1
hydrolase activity	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

1400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAN1A2	MAN2A1	Q16706	862
MAN1A2	MAN2A2	P49641	634
MAN1A2	MAN2C1	Q9NTJ4	578
MAN1A2	MOGS	Q13724	557
MAN1A2	MGAT1	P26572	498
MAN1A2	ST3GAL4	Q11206	449
MAN1A2	MAN1B1	Q9UKM7	434
MAN1A2	SPPL3	Q8TCT6	433
MAN1A2	CDYL	Q9Y232	426
MAN1A2	HIPK3	Q9H422	425
MAN1A2	MGAT2	Q10469	423
MAN1A2	MGAT4B	Q9UQ53	423
MAN1A2	ARF6	P26438	414
MAN1A2	SLC35A1	P78382	405
MAN1A2	UBAP2	Q5T6F2	404

IntAct

73 interactions, top by confidence:

A	B	Type	Score
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
CD1B	TOR1B	psi-mi:“MI:0914”(association)	0.530
CD1E	SUSD5	psi-mi:“MI:0914”(association)	0.530
TLR5	MAN1A2	psi-mi:“MI:0914”(association)	0.530
TRHDE	MAN1A2	psi-mi:“MI:0914”(association)	0.530
FAM241A	NRP1	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
MAN1A2	UBE3B	psi-mi:“MI:0915”(physical association)	0.400
MAN1A2	SMAD9	psi-mi:“MI:0915”(physical association)	0.370
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
C5AR2	ILVBL	psi-mi:“MI:0914”(association)	0.350
ADAM32	GPR89A	psi-mi:“MI:0914”(association)	0.350
CLU	TOR1A	psi-mi:“MI:0914”(association)	0.350
SCARA3	DEGS1	psi-mi:“MI:0914”(association)	0.350
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.350
PMEL	MAN1A2	psi-mi:“MI:0914”(association)	0.350
CLDND1	MAN1A2	psi-mi:“MI:0914”(association)	0.350
TMED10	PGRMC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (177): MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS)

ESM2 similar proteins: A2AJ15, B2GUY0, O02773, O18498, O60476, P32906, P33908, P39098, P45700, P45701, P53624, Q08463, Q10471, Q18788, Q1L8D2, Q2HXL6, Q49A17, Q5EA41, Q5GF25, Q5RFJ6, Q6GQB9, Q6NXH2, Q6P9S7, Q6PB93, Q6WV16, Q80VA0, Q86SF2, Q86SR1, Q8BJT9, Q8H116, Q8J0Q0, Q8K1B9, Q8N428, Q925R7, Q925U4, Q92611, Q93Y37, Q9BV94, Q9BZQ6, Q9C512

Diamond homologs: A1CP08, A1D1W1, A2AJ15, A2QAS2, B0XMT4, B2GUY0, B8N417, D4AV26, E9CXX8, O02773, O18498, O60476, P31723, P33908, P39098, P45700, P45701, P53624, Q0D076, Q12563, Q18788, Q2ULB2, Q4WRZ5, Q5BF93, Q8H116, Q8J0Q0, Q93Y37, Q9C512, Q9NR34, Q9UKM7, O94726, P32906, Q2HXL6, Q6GQB9, Q8BJT9, Q925U4, Q92611, Q9BV94, Q9BZQ6, Q9FG93

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 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
Metal ion SLC transporters	5	52.7×	5e-06
R-HSA-425366	5	15.9×	1e-03
ESR-mediated signaling	6	13.5×	6e-04
Estrogen-dependent gene expression	7	9.3×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
intracellular monoatomic cation homeostasis	5	75.9×	2e-06
zinc ion transmembrane transport	5	47.4×	8e-06
intracellular zinc ion homeostasis	6	39.0×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2724 predictions. Top by Δscore:

Variant	Effect	Δscore
1:117402182:A:AG	acceptor_gain	1.0000
1:117402182:ACAG:A	acceptor_gain	1.0000
1:117402182:ACAGG:A	acceptor_gain	1.0000
1:117402183:C:G	acceptor_gain	1.0000
1:117402183:CAG:C	acceptor_loss	1.0000
1:117402184:A:AG	acceptor_gain	1.0000
1:117402184:A:G	acceptor_loss	1.0000
1:117402184:AG:A	acceptor_gain	1.0000
1:117402184:AGG:A	acceptor_gain	1.0000
1:117402185:G:GC	acceptor_gain	1.0000
1:117402185:GG:G	acceptor_gain	1.0000
1:117402185:GGG:G	acceptor_gain	1.0000
1:117402185:GGGA:G	acceptor_gain	1.0000
1:117402185:GGGAA:G	acceptor_gain	1.0000
1:117402427:G:T	donor_gain	1.0000
1:117402438:AGAGG:A	donor_loss	1.0000
1:117402439:GAG:G	donor_gain	1.0000
1:117402439:GAGGT:G	donor_loss	1.0000
1:117402440:AGG:A	donor_loss	1.0000
1:117402442:G:C	donor_loss	1.0000
1:117402443:T:A	donor_loss	1.0000
1:117402450:C:G	donor_gain	1.0000
1:117405543:TTTCA:T	acceptor_loss	1.0000
1:117405544:TTCA:T	acceptor_loss	1.0000
1:117405545:TCAG:T	acceptor_loss	1.0000
1:117405547:A:AG	acceptor_gain	1.0000
1:117405547:AGAT:A	acceptor_gain	1.0000
1:117405548:G:GT	acceptor_gain	1.0000
1:117405548:GA:G	acceptor_gain	1.0000
1:117405548:GAT:G	acceptor_gain	1.0000

AlphaMissense

4203 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:117368338:G:A	G52E	1.000
1:117420587:T:C	F265L	1.000
1:117420589:T:A	F265L	1.000
1:117420589:T:G	F265L	1.000
1:117420591:A:T	E266V	1.000
1:117460511:T:A	W325R	1.000
1:117460511:T:C	W325R	1.000
1:117460513:G:C	W325C	1.000
1:117460513:G:T	W325C	1.000
1:117460529:A:C	S331R	1.000
1:117460531:C:A	S331R	1.000
1:117460531:C:G	S331R	1.000
1:117466347:G:C	R363P	1.000
1:117466418:T:A	W387R	1.000
1:117466418:T:C	W387R	1.000
1:117493174:A:T	D399V	1.000
1:117368313:A:C	S44R	0.999
1:117368315:T:A	S44R	0.999
1:117368315:T:G	S44R	0.999
1:117368331:T:C	C50R	0.999
1:117368337:G:A	G52R	0.999
1:117368337:G:C	G52R	0.999
1:117405564:T:A	W192R	0.999
1:117405564:T:C	W192R	0.999
1:117414742:G:C	D229H	0.999
1:117414745:G:C	A230P	0.999
1:117420588:T:G	F265C	0.999
1:117420590:G:A	E266K	0.999
1:117420592:A:C	E266D	0.999
1:117420592:A:T	E266D	0.999

dbSNP variants (sampled 300 via entrez): RS1000001270 (1:117435077 G>T), RS1000009362 (1:117440513 T>C), RS1000061475 (1:117447683 T>A,G), RS1000090887 (1:117375962 A>G,T), RS1000129467 (1:117476789 T>C), RS1000144757 (1:117408123 A>G), RS1000150166 (1:117526064 C>G), RS1000162094 (1:117476966 G>A), RS1000169871 (1:117395441 G>A), RS1000180035 (1:117383067 T>A), RS1000202763 (1:117492836 A>G), RS1000211314 (1:117382843 C>A,T), RS1000292472 (1:117441247 C>G,T), RS1000294923 (1:117513866 A>G,T), RS1000297237 (1:117461427 G>A)

Disease associations

OMIM: gene MIM:604345 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_341	Blood protein levels	1.000000e-15

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, increases expression, affects expression	9
Benzo(a)pyrene	decreases expression, increases methylation, increases mutagenesis	3
methacrylaldehyde	affects cotreatment, increases oxidation, increases expression, increases abundance	2
Acrolein	increases expression, increases abundance, affects cotreatment, increases oxidation	2
Ozone	affects cotreatment, increases oxidation, increases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
geldanamycin	increases expression	1
chloroacetaldehyde	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects cotreatment, increases expression	1
trichostatin A	increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Rosiglitazone	decreases expression	1
Arsenic Trioxide	increases expression	1
Cidofovir	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Antimony	decreases expression	1
Antimony Potassium Tartrate	decreases expression	1

Clinical trials (associated diseases)

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