MLEC
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Summary
MLEC (malectin, HGNC:28973) is a protein-coding gene on chromosome 12q24.31, encoding Malectin (Q14165). Carbohydrate-binding protein with a strong ligand preference for Glc2-N-glycan.
This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 9761 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 30 total
- Druggable target: yes
- MANE Select transcript:
NM_014730
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28973 |
| Approved symbol | MLEC |
| Name | malectin |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000110917 |
| Ensembl biotype | protein_coding |
| OMIM | 613802 |
| Entrez | 9761 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000228506, ENST00000412616, ENST00000535413, ENST00000535656, ENST00000545525, ENST00000873883, ENST00000873884, ENST00000873885, ENST00000915485
RefSeq mRNA: 3 — MANE Select: NM_014730
NM_001303627, NM_001303628, NM_014730
CCDS: CCDS76609, CCDS9206
Canonical transcript exons
ENST00000228506 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000756534 | 120696316 | 120701859 |
| ENSE00001249670 | 120695095 | 120695152 |
| ENSE00001249678 | 120694824 | 120695000 |
| ENSE00001249688 | 120694091 | 120694269 |
| ENSE00002306378 | 120687149 | 120687531 |
Expression profiles
Bgee: expression breadth ubiquitous, 303 present calls, max score 98.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 71.5404 / max 1451.4290, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128376 | 71.4961 | 1822 |
| 128378 | 0.0443 | 8 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of sigmoid colon | UBERON:0004993 | 98.61 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.53 | gold quality |
| pancreatic ductal cell | CL:0002079 | 98.34 | gold quality |
| pylorus | UBERON:0001166 | 98.24 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.04 | gold quality |
| rectum | UBERON:0001052 | 97.99 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.97 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.80 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.77 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.69 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.68 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.67 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.62 | gold quality |
| adrenal gland | UBERON:0002369 | 97.61 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.59 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.53 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.39 | gold quality |
| caput epididymis | UBERON:0004358 | 97.31 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.14 | gold quality |
| medial globus pallidus | UBERON:0002477 | 96.98 | gold quality |
| duodenum | UBERON:0002114 | 96.96 | gold quality |
| body of pancreas | UBERON:0001150 | 96.87 | gold quality |
| decidua | UBERON:0002450 | 96.76 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.66 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.41 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.31 | gold quality |
| pancreas | UBERON:0001264 | 96.28 | gold quality |
| right testis | UBERON:0004534 | 96.21 | gold quality |
| left testis | UBERON:0004533 | 96.20 | gold quality |
| renal medulla | UBERON:0000362 | 96.12 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 470.13 |
| E-MTAB-9467 | yes | 48.77 |
| E-HCAD-1 | yes | 43.33 |
| E-HCAD-6 | yes | 23.72 |
| E-CURD-122 | yes | 22.22 |
| E-MTAB-9067 | yes | 14.22 |
| E-CURD-112 | yes | 5.80 |
| E-GEOD-81608 | yes | 4.43 |
| E-MTAB-4850 | no | 236.29 |
| E-HCAD-13 | no | 2.99 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
227 targeting MLEC, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
Literature-anchored findings (GeneRIF, showing 5)
- Malectin is a novel carbohydrate-binding protein of the endoplasmic reticulum and a candidate player in the early steps of protein N-glycosylation (PMID:18524852)
- These observations suggest a possible role of malectin in regulating newly synthesized glycoproteins via G2M9 recognition. (PMID:21813736)
- Data indicate that malectin functions by forming a complex with ribophorin I. (PMID:22988243)
- These results clearly demonstrate that the association of malectin with ribophorin I is required to capture misfolded alpha1-antitrypsin and direct them to the degradation pathway. (PMID:25451265)
- The results of in vitro studies suggest that C alleles of rs10431386 and rs7964786 on MLEC promotes cerebral palsy (CP) by inhibiting M1 to M2 macrophage polarization. Generally, this work suggested the contribution of MLEC gene polymorphisms to the pathogenesis of CP (PMID:28972276)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mlec | ENSDARG00000059630 |
| mus_musculus | Mlec | ENSMUSG00000048578 |
| rattus_norvegicus | Mlec | ENSRNOG00000064601 |
| drosophila_melanogaster | CG9257 | FBGN0032916 |
| caenorhabditis_elegans | WBGENE00018423 |
Protein
Protein identifiers
Malectin — Q14165 (reviewed: Q14165)
All UniProt accessions (4): Q14165, F5GX14, F5H1S8, H0YG07
UniProt curated annotations — full annotation on UniProt →
Function. Carbohydrate-binding protein with a strong ligand preference for Glc2-N-glycan. May play a role in the early steps of protein N-glycosylation.
Subunit / interactions. Interacts with the oligosaccharyltransferase (OST) complex.
Subcellular location. Endoplasmic reticulum membrane.
Similarity. Belongs to the malectin family.
RefSeq proteins (3): NP_001290556, NP_001290557, NP_055545* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR021720 | Malectin_dom | Domain |
| IPR039155 | MLEC | Family |
Pfam: PF11721
UniProt features (17 total): binding site 5, turn 2, topological domain 2, compositionally biased region 2, signal peptide 1, chain 1, glycosylation site 1, helix 1, transmembrane region 1, region of interest 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9IL3 | X-RAY DIFFRACTION | 1.45 |
| 9ILA | X-RAY DIFFRACTION | 1.56 |
| 9ILF | X-RAY DIFFRACTION | 1.56 |
| 9IKP | X-RAY DIFFRACTION | 1.68 |
| 6S7T | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14165-F1 | 81.03 | 0.63 |
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 (5): 131; 132; 201; 82; 104
Glycosylation sites (1): 268
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-532668 | N-glycan trimming in the ER and Calnexin/Calreticulin cycle |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 361 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, KAAB_FAILED_HEART_ATRIUM_DN, GOCC_SECRETORY_GRANULE, GTTAAAG_MIR302B, MORF_HDAC2, PRAMOONJAGO_SOX4_TARGETS_DN, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, COUP_01, CTCTAGA_MIR526C_MIR518F_MIR526A, GTGCCTT_MIR506, WEI_MYCN_TARGETS_WITH_E_BOX, GATA3_01, HNF4_DR1_Q3, MORF_RFC4, MORF_PRKDC
GO Biological Process (0):
GO Molecular Function (4): enzyme binding (GO:0019899), carbohydrate binding (GO:0030246), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)
GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), oligosaccharyltransferase complex (GO:0008250), membrane (GO:0016020), specific granule membrane (GO:0035579)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Asparagine N-linked glycosylation | 1 |
| Innate Immune System | 1 |
| Immune System | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 2 |
| binding | 2 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| endoplasmic reticulum membrane | 1 |
| membrane protein complex | 1 |
| endoplasmic reticulum protein-containing complex | 1 |
| transferase complex | 1 |
| cellular anatomical structure | 1 |
| secretory granule membrane | 1 |
| specific granule | 1 |
Protein interactions and networks
STRING
672 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MLEC | RPN1 | P04843 | 801 |
| MLEC | ERLEC1 | Q96DZ1 | 727 |
| MLEC | LMAN2 | Q12907 | 628 |
| MLEC | UGGT1 | Q9NYU2 | 618 |
| MLEC | EDEM2 | Q9BV94 | 570 |
| MLEC | CANX | P27824 | 547 |
| MLEC | MOGS | Q13724 | 543 |
| MLEC | CALR | P27797 | 522 |
| MLEC | EDEM1 | Q92611 | 519 |
| MLEC | STT3A | P46977 | 513 |
| MLEC | EDEM3 | Q9BZQ6 | 503 |
| MLEC | RPN2 | P04844 | 492 |
| MLEC | STT3B | Q8TCJ2 | 477 |
| MLEC | OS9 | Q13438 | 475 |
| MLEC | UGGT2 | Q9NYU1 | 474 |
IntAct
109 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| RPN1 | MLEC | psi-mi:“MI:0915”(physical association) | 0.690 |
| MLEC | RPN1 | psi-mi:“MI:0915”(physical association) | 0.690 |
| STT3A | RPN1 | psi-mi:“MI:0914”(association) | 0.560 |
| RPN2 | SMPD2 | psi-mi:“MI:0914”(association) | 0.530 |
| DAD1 | RPN1 | psi-mi:“MI:0915”(physical association) | 0.530 |
| CEP78 | CEP43 | psi-mi:“MI:0914”(association) | 0.530 |
| RPN1 | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| MLEC | UMOD | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FER1L5 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Dctn3 | psi-mi:“MI:0914”(association) | 0.350 | |
| Nedd1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TSNAX | psi-mi:“MI:0914”(association) | 0.350 | |
| RAB7A | psi-mi:“MI:0914”(association) | 0.350 | |
| Tmed2 | psi-mi:“MI:0914”(association) | 0.350 | |
| Trip11 | PPL | psi-mi:“MI:0914”(association) | 0.350 |
| GOLT1B | psi-mi:“MI:0914”(association) | 0.350 | |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| DLST | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (159): CTSD (Co-fractionation), RBM8A (Co-fractionation), MLEC (Affinity Capture-MS), MLEC (Proximity Label-MS), MLEC (Proximity Label-MS), MLEC (Proximity Label-MS), MLEC (Proximity Label-MS), MLEC (Proximity Label-MS), MLEC (Affinity Capture-MS), MLEC (Affinity Capture-MS), MLEC (Affinity Capture-MS), MLEC (Affinity Capture-MS), MLEC (Affinity Capture-MS), MLEC (Affinity Capture-MS), MLEC (Affinity Capture-MS)
ESM2 similar proteins: A0A7C9FSB8, A2TLM1, A6H7H7, B8BKI7, B9N1F9, B9SQI7, D2XV59, E0CSI1, F1N9S8, O00178, O08582, O35586, O35760, O48964, O48965, O76031, O81770, P11029, P11497, P58044, P69341, Q0J035, Q13085, Q13907, Q14165, Q1LZ95, Q1LZ96, Q28559, Q2R483, Q38929, Q39471, Q39472, Q39664, Q3UMR5, Q42553, Q4R4W5, Q5NVE1, Q5R8R6, Q5SWU9, Q5U2U0
Diamond homologs: A9C3P0, Q14165, Q5FVQ4, Q6INX3, Q6ZQI3, Q8AVF4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MLEC | “form complex” | “OST-B complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 115 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 |
|---|---|---|---|
| PD-L1(CD274) glycosylation and translocation to plasma membrane | 10 | 68.3× | 3e-14 |
| Maturation of spike protein | 11 | 38.4× | 4e-13 |
| Regulation of CDH1 posttranslational processing and trafficking to plasma membrane | 8 | 35.4× | 5e-09 |
| Maturation of DENV proteins | 12 | 33.4× | 2e-13 |
| Translation of Structural Proteins | 5 | 26.8× | 8e-05 |
| Late SARS-CoV-2 Infection Events | 5 | 19.3× | 3e-04 |
| Degradation of CDH1 | 5 | 12.9× | 2e-03 |
| Anchoring of the basal body to the plasma membrane | 7 | 10.4× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete protein N-linked glycosylation via asparagine | 10 | 69.5× | 6e-14 |
| protein N-linked glycosylation | 11 | 29.9× | 3e-11 |
| ERAD pathway | 7 | 13.1× | 3e-04 |
| transmembrane transport | 6 | 10.4× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
739 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:120694082:T:A | acceptor_gain | 1.0000 |
| 12:120694089:A:AG | acceptor_gain | 1.0000 |
| 12:120694090:G:GT | acceptor_gain | 1.0000 |
| 12:120694090:GC:G | acceptor_gain | 1.0000 |
| 12:120694090:GCC:G | acceptor_gain | 1.0000 |
| 12:120694090:GCCT:G | acceptor_gain | 1.0000 |
| 12:120694090:GCCTC:G | acceptor_gain | 1.0000 |
| 12:120694207:G:GT | donor_gain | 1.0000 |
| 12:120694211:GGGAC:G | donor_gain | 1.0000 |
| 12:120694268:AGG:A | donor_loss | 1.0000 |
| 12:120694270:G:GA | donor_loss | 1.0000 |
| 12:120694814:A:AG | acceptor_gain | 1.0000 |
| 12:120694814:ATCCT:A | acceptor_gain | 1.0000 |
| 12:120694815:T:G | acceptor_gain | 1.0000 |
| 12:120694818:T:A | acceptor_gain | 1.0000 |
| 12:120694819:G:A | acceptor_gain | 1.0000 |
| 12:120694822:A:AG | acceptor_gain | 1.0000 |
| 12:120694822:AG:A | acceptor_gain | 1.0000 |
| 12:120694823:G:A | acceptor_gain | 1.0000 |
| 12:120694823:G:GG | acceptor_gain | 1.0000 |
| 12:120694823:GGT:G | acceptor_gain | 1.0000 |
| 12:120694823:GGTA:G | acceptor_gain | 1.0000 |
| 12:120694823:GGTAT:G | acceptor_gain | 1.0000 |
| 12:120694999:AGG:A | donor_loss | 1.0000 |
| 12:120695000:GGTA:G | donor_loss | 1.0000 |
| 12:120695002:T:G | donor_loss | 1.0000 |
| 12:120695089:TCCTA:T | acceptor_loss | 1.0000 |
| 12:120695090:CCTAG:C | acceptor_loss | 1.0000 |
| 12:120695091:CTA:C | acceptor_loss | 1.0000 |
| 12:120695092:TA:T | acceptor_loss | 1.0000 |
AlphaMissense
1891 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:120687460:G:A | G55D | 1.000 |
| 12:120687525:G:C | G77R | 1.000 |
| 12:120694093:T:C | S80P | 1.000 |
| 12:120694102:G:C | G83R | 1.000 |
| 12:120694103:G:A | G83D | 1.000 |
| 12:120694103:G:T | G83V | 1.000 |
| 12:120694163:G:C | R103P | 1.000 |
| 12:120694237:G:C | A128P | 1.000 |
| 12:120694240:G:A | E129K | 1.000 |
| 12:120694241:A:T | E129V | 1.000 |
| 12:120694242:G:C | E129D | 1.000 |
| 12:120694242:G:T | E129D | 1.000 |
| 12:120694246:T:G | Y131D | 1.000 |
| 12:120694249:T:A | F132I | 1.000 |
| 12:120694249:T:C | F132L | 1.000 |
| 12:120694249:T:G | F132V | 1.000 |
| 12:120694250:T:C | F132S | 1.000 |
| 12:120694250:T:G | F132C | 1.000 |
| 12:120694251:T:A | F132L | 1.000 |
| 12:120694251:T:G | F132L | 1.000 |
| 12:120694267:A:G | K138E | 1.000 |
| 12:120694269:G:C | K138N | 1.000 |
| 12:120694269:G:T | K138N | 1.000 |
| 12:120694827:T:C | F140L | 1.000 |
| 12:120694828:T:C | F140S | 1.000 |
| 12:120694829:T:A | F140L | 1.000 |
| 12:120694829:T:G | F140L | 1.000 |
| 12:120694869:G:C | D154H | 1.000 |
| 12:120694870:A:T | D154V | 1.000 |
| 12:120694875:T:C | F156L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000066995 (12:120691916 T>C), RS1000293643 (12:120691532 T>C,G), RS1000317612 (12:120699049 G>C), RS1000586845 (12:120696798 C>T), RS1000663938 (12:120691287 C>T), RS1000737325 (12:120688862 C>T), RS1001089126 (12:120686774 T>C,G), RS1001120538 (12:120686923 C>T), RS1001193095 (12:120692765 G>A,T), RS1001422854 (12:120687764 CTCA>C), RS1002226760 (12:120694749 G>A,T), RS1002602082 (12:120685542 G>A), RS1002941647 (12:120691474 A>G,T), RS1003073200 (12:120698615 G>C,T), RS1003096789 (12:120689269 T>C,G)
Disease associations
OMIM: gene MIM:613802 | 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 |
|---|---|---|
| GCST005666_4 | Fractional excretion of metabolites in chronic kidney disease | 3.000000e-14 |
| GCST006249_30 | Serum metabolite levels | 4.000000e-177 |
| GCST012020_371 | Serum metabolite levels | 3.000000e-161 |
| GCST012020_372 | Serum metabolite levels | 1.000000e-31 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005116 | urinary metabolite measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067153 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.15 | Kd | 7055 | nM | CHEMBL5653589 |
| 5.15 | ED50 | 7055 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 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 |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148754: Binding affinity to human MLEC incubated for 45 mins by Kinobead based pull down assay | kd | 7.0548 | uM |
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| bisphenol A | increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Tunicamycin | increases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| abrine | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Diuron | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Selenium | affects cotreatment, decreases expression, increases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Dronabinol | increases 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 |
|---|---|---|---|
| CHEMBL5651796 | Binding | Binding affinity to human MLEC 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 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1X7 | Abcam HeLa MLEC KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.