LMAN2
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Also known as GP36BVIP36
Summary
LMAN2 (lectin, mannose binding 2, HGNC:16986) is a protein-coding gene on chromosome 5q35.3, encoding Vesicular integral-membrane protein VIP36 (Q12907). Plays a role as an intracellular lectin in the early secretory pathway.
This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control.
Source: NCBI Gene 10960 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 83 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_006816
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16986 |
| Approved symbol | LMAN2 |
| Name | lectin, mannose binding 2 |
| Location | 5q35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GP36B, VIP36 |
| Ensembl gene | ENSG00000169223 |
| Ensembl biotype | protein_coding |
| OMIM | 609551 |
| Entrez | 10960 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 10 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000303127, ENST00000502560, ENST00000502721, ENST00000504071, ENST00000506310, ENST00000513877, ENST00000514458, ENST00000515209, ENST00000694903, ENST00000694904, ENST00000694905, ENST00000883393, ENST00000883394, ENST00000883395, ENST00000883396
RefSeq mRNA: 1 — MANE Select: NM_006816
NM_006816
CCDS: CCDS4417
Canonical transcript exons
ENST00000303127 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001157867 | 177334284 | 177334403 |
| ENSE00001157872 | 177337136 | 177337250 |
| ENSE00001157915 | 177331567 | 177332246 |
| ENSE00001157923 | 177351452 | 177351668 |
| ENSE00003572994 | 177337363 | 177337524 |
| ENSE00003573609 | 177338488 | 177338605 |
| ENSE00003591233 | 177351173 | 177351291 |
| ENSE00003629703 | 177337706 | 177337785 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 98.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.1049 / max 288.7762, expressed in 1824 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65077 | 49.1767 | 1824 |
| 65078 | 0.9282 | 616 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 98.84 | gold quality |
| body of pancreas | UBERON:0001150 | 97.95 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.86 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.80 | gold quality |
| granulocyte | CL:0000094 | 97.71 | gold quality |
| gall bladder | UBERON:0002110 | 97.68 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.66 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.65 | gold quality |
| monocyte | CL:0000576 | 97.51 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.51 | gold quality |
| endocervix | UBERON:0000458 | 97.49 | gold quality |
| right testis | UBERON:0004534 | 97.49 | gold quality |
| left testis | UBERON:0004533 | 97.37 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.33 | gold quality |
| thyroid gland | UBERON:0002046 | 97.18 | gold quality |
| rectum | UBERON:0001052 | 97.17 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.16 | gold quality |
| right uterine tube | UBERON:0001302 | 97.14 | gold quality |
| leukocyte | CL:0000738 | 97.12 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.10 | gold quality |
| mononuclear cell | CL:0000842 | 97.07 | gold quality |
| body of stomach | UBERON:0001161 | 97.01 | gold quality |
| mouth mucosa | UBERON:0003729 | 96.99 | gold quality |
| pancreas | UBERON:0001264 | 96.97 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.84 | gold quality |
| ectocervix | UBERON:0012249 | 96.84 | gold quality |
| right ovary | UBERON:0002118 | 96.70 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.70 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 96.67 | gold quality |
| transverse colon | UBERON:0001157 | 96.65 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-88 | yes | 89.83 |
| E-MTAB-9467 | yes | 61.23 |
| E-HCAD-4 | yes | 48.64 |
| E-CURD-122 | yes | 38.80 |
| E-MTAB-8410 | yes | 24.66 |
| E-HCAD-11 | yes | 17.19 |
| E-CURD-46 | yes | 12.50 |
| E-MTAB-10553 | yes | 8.21 |
| E-GEOD-110499 | no | 1012.60 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
12 targeting LMAN2, 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-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-199A-5P | 99.51 | 69.71 | 1107 |
| HSA-MIR-199B-5P | 99.51 | 69.74 | 1098 |
| HSA-MIR-31-5P | 98.58 | 68.35 | 1239 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-3974 | 96.56 | 66.22 | 928 |
Literature-anchored findings (GeneRIF, showing 8)
- Live imaging of the canine homologous protein. (PMID:11359937)
- VIP36 interacts with molecular chaperone BiP and has a role in the quality control of secretory proteins (PMID:17586539)
- selective interaction of VIPL and VIP36 with the deglucosylated trimannose in the D1 branch of high-mannose-type oligosaccharides but with different pH dependence. (PMID:18025080)
- Results identify the glycoprotein alpha1-antitrypsin as a cargo of VIP36. (PMID:20477988)
- Interaction with VIP36 is dependent on glycosylation at the same sites that allow GC-C to fold and bind ligand. (PMID:23269669)
- data thus reveal a Golgi-traversing pathway for exosomal release of the cargo protein GPRC5B in which CD2AP facilitates the entry and LMAN2 impedes the exit of the flux, respectively. (PMID:27765817)
- White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy. (PMID:31535203)
- Comprehensive Analysis of the Expression and Prognostic Value of LMAN2 in HER2+ Breast Cancer. (PMID:35707004)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lman2 | ENSDARG00000061854 |
| mus_musculus | Lman2 | ENSMUSG00000021484 |
| rattus_norvegicus | Lman2 | ENSRNOG00000016161 |
| drosophila_melanogaster | CG5510 | FBGN0039160 |
| caenorhabditis_elegans | WBGENE00002071 |
Paralogs (3): LMAN1 (ENSG00000074695), LMAN2L (ENSG00000114988), LMAN1L (ENSG00000140506)
Protein
Protein identifiers
Vesicular integral-membrane protein VIP36 — Q12907 (reviewed: Q12907)
Alternative names: Glycoprotein GP36b, Lectin mannose-binding 2, Vesicular integral-membrane protein 36
All UniProt accessions (7): Q12907, A0A384NPY7, A0A8Q3WK65, D6RBH1, D6RBV2, D6RDX1, D6RIU4
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role as an intracellular lectin in the early secretory pathway. Interacts with N-acetyl-D-galactosamine and high-mannose type glycans and may also bind to O-linked glycans. Involved in the transport and sorting of glycoproteins carrying high mannose-type glycans.
Subcellular location. Endoplasmic reticulum-Golgi intermediate compartment membrane. Golgi apparatus membrane. Endoplasmic reticulum membrane.
Tissue specificity. Ubiquitous.
Cofactor. Binds 2 calcium ions per subunit.
RefSeq proteins (1): NP_006807* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005052 | Lectin_leg | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR035664 | VIP36_lectin | Domain |
| IPR051136 | Intracellular_Lectin-GPT | Family |
Pfam: PF03388
UniProt features (18 total): binding site 9, topological domain 2, signal peptide 1, chain 1, glycosylation site 1, disulfide bond 1, sequence conflict 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q12907-F1 | 84.45 | 0.68 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (9): 164; 166; 190; 193; 260–262; 96; 131; 162; 164–166
Disulfide bonds (1): 202–239
Glycosylation sites (1): 183
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-5694530 | Cargo concentration in the ER |
| R-HSA-199977 | ER to Golgi Anterograde Transport |
| 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-948021 | Transport to the Golgi and subsequent modification |
MSigDB gene sets: 213 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, CGGAARNGGCNG_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, AACWWCAANK_UNKNOWN, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOCC_COATED_VESICLE, HNF4_DR1_Q3, HNF4_01
GO Biological Process (4): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), protein transport (GO:0015031), positive regulation of phagocytosis (GO:0050766)
GO Molecular Function (5): D-mannose binding (GO:0005537), carbohydrate binding (GO:0030246), heat shock protein binding (GO:0031072), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (12): Golgi membrane (GO:0000139), obsolete extracellular space (GO:0005615), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cell surface (GO:0009986), COPII-coated ER to Golgi transport vesicle (GO:0030134), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), extracellular exosome (GO:0070062), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 2 |
| Membrane Trafficking | 1 |
| Transport to the Golgi and subsequent modification | 1 |
| Vesicle-mediated transport | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Asparagine N-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| intracellular membrane-bounded organelle | 3 |
| Golgi vesicle transport | 2 |
| binding | 2 |
| bounding membrane of organelle | 2 |
| endomembrane system | 2 |
| cellular anatomical structure | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| phagocytosis | 1 |
| positive regulation of endocytosis | 1 |
| regulation of phagocytosis | 1 |
| monosaccharide binding | 1 |
| protein binding | 1 |
| cation binding | 1 |
| Golgi apparatus | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| coated vesicle | 1 |
| endoplasmic reticulum-Golgi intermediate compartment | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1132 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LMAN2 | MCFD2 | Q8NI22 | 768 |
| LMAN2 | MLEC | Q14165 | 628 |
| LMAN2 | MOGS | Q13724 | 605 |
| LMAN2 | LMAN1 | P49257 | 518 |
| LMAN2 | CANX | P27824 | 502 |
| LMAN2 | SEL1L | Q9UBV2 | 495 |
| LMAN2 | ERGIC1 | Q969X5 | 472 |
| LMAN2 | PRR7 | Q8TB68 | 462 |
| LMAN2 | ERLEC1 | Q96DZ1 | 454 |
| LMAN2 | CALR | P27797 | 451 |
| LMAN2 | ERGIC3 | Q9Y282 | 445 |
| LMAN2 | ENDOD1 | O94919 | 428 |
| LMAN2 | UGGT1 | Q9NYU2 | 427 |
| LMAN2 | FAF2 | Q96CS3 | 421 |
| LMAN2 | DERL2 | Q9GZP9 | 416 |
IntAct
113 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CENPH | NDC80 | psi-mi:“MI:0914”(association) | 0.800 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SCYL1 | SEC31A | psi-mi:“MI:0914”(association) | 0.710 |
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| SPPL2B | UQCRQ | psi-mi:“MI:0914”(association) | 0.530 |
| LMAN2 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.530 |
| rep | AGPS | psi-mi:“MI:0914”(association) | 0.530 |
| XPO1 | psi-mi:“MI:0914”(association) | 0.530 | |
| ANTXR1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| CENPH | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| AOC3 | AOC2 | psi-mi:“MI:0914”(association) | 0.530 |
| env | FLOT1 | psi-mi:“MI:0914”(association) | 0.460 |
| env | PGRMC1 | psi-mi:“MI:0914”(association) | 0.460 |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| SUPT5H | LMAN2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LMAN2 | MAPK9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FRAT1 | LMAN2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LMAN2 | ATP13A2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (170): LMAN2 (Affinity Capture-RNA), LMAN2 (Affinity Capture-RNA), LMAN2 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), PLXNB2 (Affinity Capture-MS), CENPH (Affinity Capture-MS), GPC3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), CACNA2D1 (Affinity Capture-MS), LMAN2 (Co-fractionation), LMAN2 (Co-fractionation), LMAN2 (Co-fractionation), NDUFS3 (Co-fractionation), TMED10 (Co-fractionation), TMED2 (Co-fractionation)
ESM2 similar proteins: A1A4K5, A8MWY0, F1QR43, O13097, O15041, O18756, O73874, P11456, P20645, P24668, P49256, P49257, P52795, P52796, P79282, Q12907, Q13822, Q14165, Q2HJD1, Q3UZV7, Q5FVQ4, Q5NVB3, Q5RCF0, Q62902, Q64610, Q659X0, Q6AY20, Q6BEA0, Q6EV76, Q6EV77, Q6GMK0, Q6INX3, Q6PCX7, Q6ZQI3, Q80UG2, Q812F8, Q8BJQ9, Q8R4K8, Q8TDX6, Q9BYC5
Diamond homologs: O94401, P49256, P59481, Q12907, Q2HJD1, Q5RCF0, Q9H0V9, P49257, Q5FB95, Q62902, Q8VCD3, Q9D0F3, Q9DBH5, Q9HAT1, Q9TU32
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LMAN2 | “up-regulates quantity by stabilization” | SERPINA1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 141 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 | 7 | 13.2× | 3e-04 |
| SLC transporter disorders | 5 | 10.6× | 8e-03 |
| SLC-mediated transmembrane transport | 11 | 6.8× | 3e-04 |
| Transport of small molecules | 13 | 3.4× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| zinc ion transmembrane transport | 5 | 28.5× | 2e-04 |
| intracellular zinc ion homeostasis | 7 | 27.4× | 6e-06 |
| transport across blood-brain barrier | 8 | 11.7× | 2e-04 |
| ERAD pathway | 6 | 8.8× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 63 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 152817 | GRCh38/hg38 5q35.3(chr5:177118445-177374609)x3 | Likely pathogenic |
SpliceAI
1846 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:177333628:T:TA | donor_gain | 1.0000 |
| 5:177334281:CACCT:C | donor_loss | 1.0000 |
| 5:177334282:A:AC | donor_gain | 1.0000 |
| 5:177334282:AC:A | donor_gain | 1.0000 |
| 5:177334282:ACCTT:A | donor_loss | 1.0000 |
| 5:177334283:C:CC | donor_gain | 1.0000 |
| 5:177334283:C:G | donor_loss | 1.0000 |
| 5:177334283:CC:C | donor_gain | 1.0000 |
| 5:177334283:CCT:C | donor_gain | 1.0000 |
| 5:177334399:ATTGT:A | acceptor_gain | 1.0000 |
| 5:177334400:TTGT:T | acceptor_gain | 1.0000 |
| 5:177334401:TGT:T | acceptor_gain | 1.0000 |
| 5:177334402:GT:G | acceptor_gain | 1.0000 |
| 5:177334403:TC:T | acceptor_loss | 1.0000 |
| 5:177334404:C:CA | acceptor_loss | 1.0000 |
| 5:177334404:C:CC | acceptor_gain | 1.0000 |
| 5:177334405:T:G | acceptor_loss | 1.0000 |
| 5:177337132:TCA:T | donor_loss | 1.0000 |
| 5:177337133:CA:C | donor_loss | 1.0000 |
| 5:177337134:A:AC | donor_gain | 1.0000 |
| 5:177337134:AC:A | donor_gain | 1.0000 |
| 5:177337134:ACCA:A | donor_loss | 1.0000 |
| 5:177337135:C:CT | donor_gain | 1.0000 |
| 5:177337135:CC:C | donor_gain | 1.0000 |
| 5:177337135:CCAGA:C | donor_gain | 1.0000 |
| 5:177337251:CT:C | acceptor_loss | 1.0000 |
| 5:177337358:CTCAC:C | donor_loss | 1.0000 |
| 5:177337359:TCAC:T | donor_loss | 1.0000 |
| 5:177337361:A:AC | donor_gain | 1.0000 |
| 5:177337362:C:CC | donor_gain | 1.0000 |
AlphaMissense
2350 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:177337218:C:A | W236C | 1.000 |
| 5:177337218:C:G | W236C | 1.000 |
| 5:177337367:A:G | L224P | 1.000 |
| 5:177338587:A:G | W112R | 1.000 |
| 5:177338587:A:T | W112R | 1.000 |
| 5:177351222:C:G | R89P | 1.000 |
| 5:177351263:C:A | W75C | 1.000 |
| 5:177351263:C:G | W75C | 1.000 |
| 5:177351265:A:G | W75R | 1.000 |
| 5:177351265:A:T | W75R | 1.000 |
| 5:177332135:C:T | G341E | 0.999 |
| 5:177332148:A:G | C337R | 0.999 |
| 5:177332159:C:T | G333D | 0.999 |
| 5:177332160:C:G | G333R | 0.999 |
| 5:177334313:G:T | P294H | 0.999 |
| 5:177334386:A:G | S270P | 0.999 |
| 5:177334397:T:G | H266P | 0.999 |
| 5:177334398:G:C | H266D | 0.999 |
| 5:177337141:A:G | L262P | 0.999 |
| 5:177337156:G:T | A257D | 0.999 |
| 5:177337157:C:G | A257P | 0.999 |
| 5:177337160:A:G | S256P | 0.999 |
| 5:177337165:C:T | G254E | 0.999 |
| 5:177337166:C:A | G254W | 0.999 |
| 5:177337209:G:C | C239W | 0.999 |
| 5:177337210:C:G | C239S | 0.999 |
| 5:177337210:C:T | C239Y | 0.999 |
| 5:177337211:A:G | C239R | 0.999 |
| 5:177337211:A:T | C239S | 0.999 |
| 5:177337220:A:G | W236R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000214982 (5:177349766 C>A), RS1000474241 (5:177351622 C>A), RS1000547302 (5:177351432 T>A), RS1000750560 (5:177343723 T>C), RS1000846984 (5:177333081 G>A), RS1001054889 (5:177345120 T>C), RS1001196939 (5:177348504 T>C), RS1001245051 (5:177334628 C>G), RS1001363298 (5:177332833 G>A), RS1001541282 (5:177348628 C>A,G), RS1001670780 (5:177348097 G>A,C), RS1001944374 (5:177338248 T>C), RS1001954601 (5:177331760 GC>G), RS1001978673 (5:177342292 G>A), RS1002005685 (5:177344018 C>A,T)
Disease associations
OMIM: gene MIM:609551 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000649_23 | Chronic kidney disease | 1.000000e-14 |
| GCST001574_7 | Activated partial thromboplastin time | 6.000000e-88 |
| GCST004601_66 | Red blood cell count | 9.000000e-10 |
| GCST005038_64 | Allergic disease (asthma, hay fever or eczema) | 1.000000e-08 |
| GCST005956_15 | Waist-to-hip ratio adjusted for BMI | 1.000000e-07 |
| GCST005957_13 | Waist-to-hip ratio adjusted for BMI (age <50) | 3.000000e-07 |
| GCST005962_42 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-08 |
| GCST006585_864 | Blood protein levels | 6.000000e-06 |
| GCST007485_4 | Anthropometric traits | 1.000000e-48 |
| GCST007490_9 | Anthropometric traits (multi-trait analysis) | 5.000000e-27 |
| GCST007725_20 | Serum uric acid levels | 4.000000e-08 |
| GCST009676_5 | Urinary calcium excretion | 4.000000e-06 |
| GCST010244_411 | Triglyceride levels | 5.000000e-10 |
| GCST90002385_353 | High light scatter reticulocyte count | 5.000000e-11 |
| GCST90002405_162 | Reticulocyte count | 1.000000e-10 |
| GCST90020029_1508 | Waist circumference adjusted for body mass index | 3.000000e-08 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004324 | body weights and measures |
| EFO:0004761 | uric acid measurement |
| EFO:0004838 | calcium measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0007986 | reticulocyte count |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066356 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects cotreatment, affects expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| bisphenol F | decreases expression, affects cotreatment | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | affects binding, increases reaction | 1 |
| manganese chloride | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Dexamethasone | affects cotreatment, affects expression, decreases expression | 1 |
| Indomethacin | affects expression, decreases expression, affects cotreatment | 1 |
| Isoniazid | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases expression | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Vitamin E | affects cotreatment, increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | decreases expression, affects cotreatment, affects expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651698 | Binding | Binding affinity to human LMAN2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3A8 | Abcam HEK293T LMAN2 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic kidney disease