MAN1C1

Summary

MAN1C1 (mannosidase alpha class 1C member 1, HGNC:19080) is a protein-coding gene on chromosome 1p36.11, encoding Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC (Q9NR34). Involved in the maturation of Asn-linked oligosaccharides.

Predicted to enable mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Predicted to be involved in ERAD pathway. Located in extracellular exosome.

Source: NCBI Gene 57134 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 108 total
• MANE Select transcript: NM_020379

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19080
Approved symbol	MAN1C1
Name	mannosidase alpha class 1C member 1
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Aliases	HMIC
Ensembl gene	ENSG00000117643
Ensembl biotype	protein_coding
OMIM	616772
Entrez	57134

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000263979, ENST00000374329, ENST00000374332, ENST00000473891, ENST00000475314, ENST00000487493, ENST00000496532, ENST00000899084, ENST00000929760, ENST00000929761, ENST00000957316, ENST00000957317

RefSeq mRNA: 6 — MANE Select: NM_020379 NM_001289010, NM_001385182, NM_001385183, NM_001385184, NM_001385185, NM_020379

CCDS: CCDS265, CCDS90887

Canonical transcript exons

ENST00000374332 — 12 exons

Exon	Start	End
ENSE00001036325	25771657	25771772
ENSE00001209599	25763874	25763967
ENSE00001209604	25758592	25758709
ENSE00001402941	25783663	25784450
ENSE00002722739	25616791	25618337
ENSE00003462843	25686440	25686536
ENSE00003495830	25749255	25749335
ENSE00003547631	25746668	25746783
ENSE00003607100	25782585	25782700
ENSE00003619243	25778105	25778324
ENSE00003640374	25780940	25781112
ENSE00003681318	25753484	25753578

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 93.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9508 / max 173.5095, expressed in 1025 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1524	2.7018	727
1523	1.8210	755
1529	0.2287	93
1528	0.0756	39
1527	0.0693	35
1531	0.0544	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	93.66	gold quality
retina	UBERON:0000966	93.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.33	gold quality
placenta	UBERON:0001987	92.99	gold quality
cerebellar hemisphere	UBERON:0002245	92.84	gold quality
cerebellar cortex	UBERON:0002129	92.75	gold quality
cerebellum	UBERON:0002037	91.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.36	gold quality
pituitary gland	UBERON:0000007	91.18	gold quality
endothelial cell	CL:0000115	91.16	gold quality
right frontal lobe	UBERON:0002810	90.78	gold quality
right lobe of liver	UBERON:0001114	90.70	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.52	gold quality
adult mammalian kidney	UBERON:0000082	90.33	gold quality
thyroid gland	UBERON:0002046	90.30	gold quality
right lobe of thyroid gland	UBERON:0001119	90.21	gold quality
left lobe of thyroid gland	UBERON:0001120	90.21	gold quality
adenohypophysis	UBERON:0002196	90.16	gold quality
prefrontal cortex	UBERON:0000451	89.93	gold quality
gall bladder	UBERON:0002110	89.91	gold quality
right ovary	UBERON:0002118	89.82	gold quality
choroid plexus epithelium	UBERON:0003911	89.36	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.36	gold quality
primary visual cortex	UBERON:0002436	88.93	gold quality
endocervix	UBERON:0000458	88.91	gold quality
frontal cortex	UBERON:0001870	88.80	gold quality
left ovary	UBERON:0002119	88.54	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.45	gold quality
cingulate cortex	UBERON:0003027	88.42	gold quality
spinal cord	UBERON:0002240	88.37	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.87
E-GEOD-83139	yes	4.48
E-MTAB-6142	no	17.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

120 targeting MAN1C1, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900

Literature-anchored findings (GeneRIF, showing 3)

• overexpression of Golgi alpha1,2-mannosidase IA, IB, and IC also accelerates ERAD of terminally misfolded human alpha1-antitrypsin variant null (Hong Kong) (NHK), and mannose trimming from the N-glycans on NHK in 293 cells (PMID:17727818)
• Golgi alpha1,2-mannosidase I induces clustering and compartmentalization of CD147 during epithelial cell migration. (PMID:32419574)
• Elevated alpha-1,2-mannosidase MAN1C1 in glioma stem cells and its implications for immunological changes and prognosis in glioma patients. (PMID:39333557)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	MAN1C1	ENSDARG00000067912
mus_musculus	Man1c1	ENSMUSG00000037306
rattus_norvegicus	Man1c1	ENSRNOG00000017087
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), EDEM1 (ENSG00000134109), MAN1B1 (ENSG00000177239), MAN1A2 (ENSG00000198162)

Protein

Protein identifiers

Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC — Q9NR34 (reviewed: Q9NR34)

Alternative names: HMIC, Mannosidase alpha class 1C member 1, Processing alpha-1,2-mannosidase IC

All UniProt accessions (3): A6NGN6, B1AJZ5, Q9NR34

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Expressed in most tissues with the exception of lung, muscle and pancreas. Highly expressed in placenta.

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

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyl hydrolase 47 family.

RefSeq proteins (6): NP_001275939, NP_001372111, NP_001372112, NP_001372113, NP_001372114, NP_065112* (*=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 (13 total): topological domain 2, glycosylation site 2, compositionally biased region 2, chain 1, disulfide bond 1, transmembrane region 1, region of interest 1, active site 1, binding site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NR34-F1	82.88	0.70

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): 499 (proton donor)

Ligand- & substrate-binding residues (1): 610

Post-translational modifications (1): 164

Disulfide bonds (1): 453–485

Glycosylation sites (2): 250, 618

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: 260 (showing top): GOBP_N_GLYCAN_PROCESSING, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, BENPORATH_ES_WITH_H3K27ME3, PEREZ_TP63_TARGETS, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, KEGG_N_GLYCAN_BIOSYNTHESIS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, REACTOME_MEMBRANE_TRAFFICKING, CAGCTG_AP4_Q5, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, NKX61_01, PAX8_B, CAIRO_HEPATOBLASTOMA_CLASSES_DN

GO Biological Process (6): carbohydrate metabolic process (GO:0005975), protein N-linked glycosylation (GO:0006487), ERAD pathway (GO:0036503), Golgi apparatus N-glycan mannose trimming (GO:1904381), obsolete protein glycosylation (GO:0006486), N-glycan processing (GO:0006491)

GO Molecular Function (6): mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571), calcium ion binding (GO:0005509), protein binding (GO:0005515), 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), extracellular exosome (GO:0070062), Golgi apparatus (GO:0005794), membrane (GO:0016020)

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

Protein interactions and networks

STRING

866 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAN1C1	MAN2A2	P49641	666
MAN1C1	MAN2A1	Q16706	647
MAN1C1	FAM131C	Q96AQ9	502
MAN1C1	BCLAF1	Q9NYF8	499
MAN1C1	MAN2C1	Q9NTJ4	493
MAN1C1	MOGS	Q13724	480
MAN1C1	MGAT4B	Q9UQ53	475
MAN1C1	ERLEC1	Q96DZ1	474
MAN1C1	ST3GAL4	Q11206	472
MAN1C1	MGAT5	Q09328	470
MAN1C1	MGAT5B	Q3V5L5	470
MAN1C1	OS9	Q13438	429
MAN1C1	NIPAL3	Q6P499	424
MAN1C1	ZNF114	Q8NC26	418
MAN1C1	FUT8	Q9BYC5	415

IntAct

11 interactions, top by confidence:

A	B	Type	Score
MYG1	MAN1C1	psi-mi:“MI:0915”(physical association)	0.560
FARS2	MAN1C1	psi-mi:“MI:0915”(physical association)	0.560
FAM241A	NRP1	psi-mi:“MI:0914”(association)	0.530
BMP2K	MAN1C1	psi-mi:“MI:0915”(physical association)	0.370
MAN1C1	SMAD9	psi-mi:“MI:0915”(physical association)	0.370
SLC47A1	PLOD2	psi-mi:“MI:0914”(association)	0.350
MYG1	MAN1C1	psi-mi:“MI:0915”(physical association)	0.000
FARS2	MAN1C1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): MAN1C1 (Affinity Capture-RNA), C12orf10 (Two-hybrid), FARS2 (Two-hybrid), MAN1C1 (Affinity Capture-MS), MAN1C1 (Affinity Capture-MS), MAN1C1 (Two-hybrid)

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	9
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3086 predictions. Top by Δscore:

Variant	Effect	Δscore
1:25618334:GGAG:G	donor_gain	1.0000
1:25618335:GAGG:G	donor_gain	1.0000
1:25618336:AGGTA:A	donor_loss	1.0000
1:25618338:GTATG:G	donor_loss	1.0000
1:25618339:T:G	donor_loss	1.0000
1:25749251:GCAG:G	acceptor_loss	1.0000
1:25749252:CA:C	acceptor_loss	1.0000
1:25749253:A:AC	acceptor_loss	1.0000
1:25749253:AGAGC:A	acceptor_gain	1.0000
1:25749254:GA:G	acceptor_gain	1.0000
1:25749254:GAGCG:G	acceptor_gain	1.0000
1:25749331:AAGAG:A	donor_loss	1.0000
1:25749333:GAG:G	donor_gain	1.0000
1:25749334:AGGT:A	donor_loss	1.0000
1:25749335:GGTG:G	donor_loss	1.0000
1:25749336:G:T	donor_loss	1.0000
1:25749337:T:A	donor_loss	1.0000
1:25763941:GCCCA:G	donor_gain	1.0000
1:25771655:A:AG	acceptor_gain	1.0000
1:25771656:G:GG	acceptor_gain	1.0000
1:25771656:GACC:G	acceptor_gain	1.0000
1:25781088:G:GT	donor_gain	1.0000
1:25782581:TCA:T	acceptor_loss	1.0000
1:25782582:CAG:C	acceptor_loss	1.0000
1:25782583:A:AG	acceptor_gain	1.0000
1:25782584:G:GG	acceptor_gain	1.0000
1:25782584:G:GT	acceptor_loss	1.0000
1:25782584:GGC:G	acceptor_gain	1.0000
1:25782701:G:GG	donor_gain	1.0000
1:25686434:TTGCA:T	acceptor_loss	0.9900

AlphaMissense

4124 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:25749273:T:C	F258L	0.999
1:25749275:T:A	F258L	0.999
1:25749275:T:G	F258L	0.999
1:25758645:G:A	G328E	0.999
1:25758672:T:C	L337P	0.999
1:25771680:G:T	G389W	0.999
1:25771684:A:T	D390V	0.999
1:25771686:A:C	S391R	0.999
1:25771688:T:A	S391R	0.999
1:25771688:T:G	S391R	0.999
1:25771696:A:T	E394V	0.999
1:25771708:A:T	K398I	0.999
1:25771709:A:C	K398N	0.999
1:25771709:A:T	K398N	0.999
1:25778199:T:C	L451P	0.999
1:25778204:T:C	C453R	0.999
1:25778205:G:A	C453Y	0.999
1:25778206:T:G	C453W	0.999
1:25778207:T:C	F454L	0.999
1:25778209:C:A	F454L	0.999
1:25778209:C:G	F454L	0.999
1:25778300:T:C	C485R	0.999
1:25778301:G:A	C485Y	0.999
1:25778302:T:G	C485W	0.999
1:25780970:T:C	F503S	0.999
1:25781044:A:C	S528R	0.999
1:25781046:C:A	S528R	0.999
1:25781046:C:G	S528R	0.999
1:25783723:C:A	N609K	0.999
1:25783723:C:G	N609K	0.999

dbSNP variants (sampled 300 via entrez): RS1000013016 (1:25710070 C>T), RS1000027293 (1:25769586 T>C), RS1000046062 (1:25622149 T>C), RS1000057079 (1:25624998 A>T), RS1000059828 (1:25769445 C>A,T), RS1000060904 (1:25713760 G>T), RS1000079113 (1:25628699 C>G), RS1000086219 (1:25678211 A>G), RS1000125687 (1:25637372 A>C,G), RS1000135350 (1:25770597 T>C), RS1000137878 (1:25677873 T>A), RS1000157837 (1:25671785 A>G), RS1000197522 (1:25662198 T>C), RS1000202679 (1:25721610 A>G), RS1000203287 (1:25617630 C>A,G)

Disease associations

OMIM: gene MIM:616772 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003123_2	Severe influenza A (H1N1) infection	9.000000e-11
GCST006585_234	Blood protein levels	9.000000e-14
GCST012490_74	Femur bone mineral density x serum urate levels interaction	1.000000e-10
GCST90000025_908	Appendicular lean mass	2.000000e-16

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0004531	urate measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression, affects methylation, affects cotreatment, increases methylation	6
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	6
Benzo(a)pyrene	affects methylation, decreases expression	4
Aflatoxin B1	affects expression, decreases expression, decreases methylation	3
mercuric bromide	decreases expression, affects cotreatment	2
Cadmium	decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Tretinoin	decreases expression, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
trichostatin A	increases expression	1
benzo(e)pyrene	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Am 580	decreases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, increases expression, affects cotreatment	1
abrine	decreases expression	1
quinocetone	increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
licochalcone B	increases expression	1
bisphenol S	increases methylation	1
incobotulinumtoxinA	increases expression	1
Rosiglitazone	decreases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	decreases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1WF	Abcam HeLa MAN1C1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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