MAL2
geneOn this page
Summary
MAL2 (mal, T cell differentiation protein 2, HGNC:13634) is a protein-coding gene on chromosome 8q24.12, encoding Protein MAL2 (Q969L2). Member of the machinery of polarized transport.
This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface.
Source: NCBI Gene 114569 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 23 total
- Druggable target: yes
- MANE Select transcript:
NM_052886
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13634 |
| Approved symbol | MAL2 |
| Name | mal, T cell differentiation protein 2 |
| Location | 8q24.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000147676 |
| Ensembl biotype | protein_coding |
| OMIM | 609684 |
| Entrez | 114569 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000522112, ENST00000531508, ENST00000534619, ENST00000614891, ENST00000884402, ENST00000884403, ENST00000884404
RefSeq mRNA: 1 — MANE Select: NM_052886
NM_052886
CCDS: CCDS75780
Canonical transcript exons
ENST00000614891 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003541887 | 119240165 | 119240320 |
| ENSE00003726109 | 119208363 | 119208604 |
| ENSE00003731759 | 119221587 | 119221757 |
| ENSE00003749627 | 119243417 | 119245673 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 99.61.
FANTOM5 (CAGE): breadth broad, TPM avg 31.0406 / max 1045.4489, expressed in 790 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 90377 | 22.6055 | 755 |
| 90378 | 6.0949 | 669 |
| 90387 | 0.8131 | 382 |
| 90382 | 0.6391 | 223 |
| 90380 | 0.2883 | 193 |
| 90388 | 0.2505 | 128 |
| 90381 | 0.1534 | 84 |
| 90379 | 0.1043 | 43 |
| 90376 | 0.0809 | 40 |
| 90375 | 0.0107 | 3 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 99.61 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.60 | gold quality |
| oral cavity | UBERON:0000167 | 99.37 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.26 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 99.18 | gold quality |
| amniotic fluid | UBERON:0000173 | 99.09 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.01 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.97 | gold quality |
| penis | UBERON:0000989 | 98.94 | gold quality |
| gingiva | UBERON:0001828 | 98.91 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.75 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.71 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.70 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.69 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.63 | gold quality |
| bronchial epithelial cell | CL:0002328 | 98.52 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.43 | gold quality |
| bronchus | UBERON:0002185 | 98.39 | gold quality |
| upper leg skin | UBERON:0004262 | 98.34 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.27 | gold quality |
| renal medulla | UBERON:0000362 | 98.21 | gold quality |
| rectum | UBERON:0001052 | 97.77 | gold quality |
| skin of hip | UBERON:0001554 | 97.73 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.65 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 97.53 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 97.33 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.29 | gold quality |
| oviduct epithelium | UBERON:0004804 | 97.08 | gold quality |
| body of tongue | UBERON:0011876 | 97.08 | gold quality |
| tongue | UBERON:0001723 | 97.06 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10283 | yes | 810.91 |
| E-MTAB-8559 | yes | 489.75 |
| E-MTAB-10662 | yes | 398.56 |
| E-CURD-114 | yes | 321.33 |
| E-HCAD-1 | yes | 225.23 |
| E-MTAB-6819 | yes | 214.67 |
| E-MTAB-8142 | yes | 118.24 |
| E-MTAB-8410 | yes | 50.00 |
| E-HCAD-10 | yes | 24.52 |
| E-GEOD-125970 | yes | 23.99 |
| E-MTAB-9388 | yes | 12.81 |
| E-MTAB-8271 | yes | 7.77 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
154 targeting MAL2, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| 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-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 17)
- Data show that MAL2 is essential for transcytosis in HepG2 cells. (PMID:12370246)
- MAL2 protein mRNA species were detected in the thyroid and immunohistochemical analysis of thyroid follicles indicated that MAL2 distributed to the apical membrane (PMID:14576188)
- The results indicate that MAL2 protein genes are not ubiquitously expressed in leukemic bone marrow in children, and that RNA sample parameters may influence measures of gene expression more than commonly appreciated. (PMID:16620967)
- The MAL2 gene was shown to effectively separate these two tumor(chromophobe renal cell carcinoma (RCC) and benign oncocytoma) groups by quantitative reverse transcription-PCR using fresh tissue samples, with similar trends seen on formalin-fixed tissues. (PMID:17145811)
- a role for MAL2 in regulating tumor-associated protein mucin expression and/or localisation (PMID:19175940)
- after differentiation, murine oligodendrocyte precursor and human oligodendroglioma derived cell lines up-regulate the expression of MAL2 and accumulate it in an intracellular compartment, exhibiting a peri-centrosomal localization. (PMID:19683524)
- MAL2 overexpression was highest in serous carcinomas relative to other histological subtypes of ovarian cancer. (PMID:20846453)
- Results prove for the first time the interaction of PLP and MAL2 in oligodendrocytic cells, supporting the transcytotic model of PLP transport previously suggested. (PMID:21573057)
- MAL2 and STK16 function to sort secretory soluble cargo into the constitutive secretory pathway in hepatocytes. (PMID:25084525)
- data suggested that MAL2 and TPD52 might be potential biomarkers for clinical prognosis and might be a promising therapeutic target for CRC (PMID:28562687)
- Up-regulation of MAL2 was hound in papillary thyroid gland tissues and significantly correlated with poor overall survival. (PMID:30021343)
- MAL2 has a role in promoting proliferation, migration, and invasion through regulating epithelial-mesenchymal transition in breast cancer cell lines (PMID:30195491)
- RP11-284F21.9 knockdown could reduce MAL2 expression, while miR-383-5p inhibitors abolished this repressive effect (PMID:31397491)
- MAL2 drives immune evasion in breast cancer by suppressing tumor antigen presentation. (PMID:32990678)
- MAL2 interacts with IQGAP1 to promote pancreatic cancer progression by increasing ERK1/2 phosphorylation. (PMID:33780861)
- The novel circ_0084904/miR-802/MAL2 axis promotes the development of cervical cancer. (PMID:35033901)
- LINC00460 Facilitates Cell Proliferation and Inhibits Ferroptosis in Breast Cancer Through the miR-320a/MAL2 Axis. (PMID:36938678)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mal2 | ENSDARG00000077637 |
| mus_musculus | Mal2 | ENSMUSG00000024479 |
| rattus_norvegicus | Mal2 | ENSRNOG00000008615 |
| caenorhabditis_elegans | F28H1.4 | WBGENE00017909 |
| caenorhabditis_elegans | F47B3.3 | WBGENE00018527 |
Paralogs (14): CMTM1 (ENSG00000089505), CMTM6 (ENSG00000091317), PLP2 (ENSG00000102007), PLLP (ENSG00000102934), CMTM3 (ENSG00000140931), CMTM2 (ENSG00000140932), MALL (ENSG00000144063), CMTM7 (ENSG00000153551), MARVELD1 (ENSG00000155254), CMTM5 (ENSG00000166091), CMTM8 (ENSG00000170293), MAL (ENSG00000172005), CMTM4 (ENSG00000183723), CKLF (ENSG00000217555)
Protein
Protein identifiers
Protein MAL2 — Q969L2 (reviewed: Q969L2)
All UniProt accessions (2): Q969L2, A0A087WZL1
UniProt curated annotations — full annotation on UniProt →
Function. Member of the machinery of polarized transport. Required for the indirect transcytotic route at the step of the egress of the transcytosing cargo from perinuclear endosomes in order for it to travel to the apical surface via a raft-dependent pathway.
Subunit / interactions. Interacts with TPD52L2.
Subcellular location. Cell membrane. Apical cell membrane. Endomembrane system. Cytoplasm. Perinuclear region.
Tissue specificity. Predominantly expressed in kidney, lung, and liver. Also found in thyroid gland, stomach and, at lower levels in testis and small intestine.
Similarity. Belongs to the MAL family.
RefSeq proteins (1): NP_443118* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008253 | Marvel | Domain |
| IPR013295 | MAL | Family |
| IPR050578 | MARVEL-CKLF_proteins | Family |
Pfam: PF01284
UniProt features (13 total): topological domain 5, transmembrane region 4, chain 1, domain 1, glycosylation site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969L2-F1 | 85.42 | 0.56 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 132
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 133 (showing top):
MODULE_255, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_317, PATIL_LIVER_CANCER, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GOBP_ENSHEATHMENT_OF_NEURONS, ACATTCC_MIR1_MIR206, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOCC_APICAL_PLASMA_MEMBRANE, AIGNER_ZEB1_TARGETS, POU3F2_02, CART1_01, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MODULE_342, NUYTTEN_EZH2_TARGETS_DN
GO Biological Process (1): myelination (GO:0042552)
GO Molecular Function (2): structural constituent of myelin sheath (GO:0019911), protein binding (GO:0005515)
GO Cellular Component (8): endomembrane system (GO:0012505), membrane (GO:0016020), apical plasma membrane (GO:0016324), membrane raft (GO:0045121), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), plasma membrane (GO:0005886)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| axon ensheathment | 1 |
| structural molecule activity | 1 |
| myelin sheath | 1 |
| binding | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| membrane microdomain | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1054 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAL2 | TPD52L2 | O43399 | 923 |
| MAL2 | TPD52 | P55327 | 890 |
| MAL2 | PIGR | P01833 | 695 |
| MAL2 | CD59 | P13987 | 652 |
| MAL2 | OCLN | Q16625 | 600 |
| MAL2 | CENPI | Q92674 | 576 |
| MAL2 | CHD7 | Q9P2D1 | 570 |
| MAL2 | RAB11A | P24410 | 557 |
| MAL2 | MARCHF2 | Q9P0N8 | 529 |
| MAL2 | CENPK | Q9BS16 | 523 |
| MAL2 | INF2 | Q27J81 | 519 |
| MAL2 | ITIH2 | P19823 | 494 |
| MAL2 | MALL | Q13021 | 455 |
| MAL2 | CENPN | Q96H22 | 451 |
| MAL2 | KRT19 | P08727 | 445 |
IntAct
200 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAL2 | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAL2 | GAD2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GAD2 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GAD1 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NDRG4 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAL2 | NDRG4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAL2 | SH3GLB1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAL2 | GAD1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ARFIP2 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SH3GLB1 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PTPN9 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MAL2 | PTPN9 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MAL2 | PBX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VARS2 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TUBB | MAL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH3GL1 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAL2 | PTPN9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAL2 | TBRG4 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (73): MAL2 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid), TUBB (Two-hybrid), RAB37 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid), MAL2 (Two-hybrid)
ESM2 similar proteins: A2VE13, A4K2N5, A4K2W1, B8BPI2, E1BY51, O09117, O09198, O35682, O62646, O88662, O89104, P21145, Q04941, Q10EJ2, Q16563, Q1RMQ3, Q28296, Q3URJ8, Q3ZBY0, Q5R6H1, Q5RAI2, Q5VXT5, Q64349, Q6DHB5, Q6GPN9, Q6P0C6, Q6P742, Q6VBQ5, Q6Y1E2, Q78S06, Q86TG1, Q86UW1, Q8BI08, Q8CJ61, Q8IZ96, Q8IZR5, Q8N2H4, Q8N8D7, Q91WN2, Q95MN6
Diamond homologs: A2VE13, A3KQ86, O09198, P21145, Q13021, Q28296, Q3ZBY0, Q5RAI2, Q64349, Q6GPN9, Q8BI08, Q91X49, Q969L2, Q9CZR4, P47987, Q1RMP9, Q8IZV2, Q9DCU2, Q9Y342, A6H7B0, Q5BLB7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
655 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:119208601:GATT:G | donor_gain | 1.0000 |
| 8:119208603:TT:T | donor_gain | 1.0000 |
| 8:119208605:G:GG | donor_gain | 1.0000 |
| 8:119240162:TAG:T | acceptor_loss | 1.0000 |
| 8:119240163:AGG:A | acceptor_loss | 1.0000 |
| 8:119240164:G:GA | acceptor_loss | 1.0000 |
| 8:119240317:CTCA:C | donor_gain | 1.0000 |
| 8:119240318:TCA:T | donor_gain | 1.0000 |
| 8:119240321:G:GG | donor_gain | 1.0000 |
| 8:119208600:AGATT:A | donor_gain | 0.9900 |
| 8:119208601:GATTG:G | donor_gain | 0.9900 |
| 8:119208602:ATT:A | donor_gain | 0.9900 |
| 8:119208602:ATTGT:A | donor_loss | 0.9900 |
| 8:119208604:TGTA:T | donor_loss | 0.9900 |
| 8:119208605:G:C | donor_loss | 0.9900 |
| 8:119208606:TAAG:T | donor_loss | 0.9900 |
| 8:119221585:A:AG | acceptor_gain | 0.9900 |
| 8:119221586:G:GA | acceptor_gain | 0.9900 |
| 8:119221586:GCT:G | acceptor_gain | 0.9900 |
| 8:119221755:CTGG:C | donor_loss | 0.9900 |
| 8:119221757:GGTA:G | donor_loss | 0.9900 |
| 8:119221758:G:A | donor_loss | 0.9900 |
| 8:119221759:TAA:T | donor_loss | 0.9900 |
| 8:119240163:A:AG | acceptor_gain | 0.9900 |
| 8:119240163:AG:A | acceptor_gain | 0.9900 |
| 8:119240164:G:GG | acceptor_gain | 0.9900 |
| 8:119240164:GG:G | acceptor_gain | 0.9900 |
| 8:119240203:T:TA | acceptor_gain | 0.9900 |
| 8:119240316:CCTCA:C | donor_gain | 0.9900 |
| 8:119240318:TCAGT:T | donor_loss | 0.9900 |
AlphaMissense
1125 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:119221605:T:A | W51R | 0.996 |
| 8:119221605:T:C | W51R | 0.996 |
| 8:119221653:T:A | W67R | 0.995 |
| 8:119221653:T:C | W67R | 0.995 |
| 8:119243453:A:C | S166R | 0.994 |
| 8:119243455:T:A | S166R | 0.994 |
| 8:119243455:T:G | S166R | 0.994 |
| 8:119243441:T:C | C162R | 0.991 |
| 8:119240316:C:A | A152D | 0.989 |
| 8:119208599:G:A | E43K | 0.988 |
| 8:119221594:G:A | G47E | 0.988 |
| 8:119243448:G:A | G164D | 0.988 |
| 8:119208593:T:C | C41R | 0.987 |
| 8:119221669:C:A | S72Y | 0.985 |
| 8:119243450:T:C | C165R | 0.985 |
| 8:119208581:G:C | G37R | 0.984 |
| 8:119221615:T:A | V54D | 0.984 |
| 8:119243436:C:A | T160K | 0.984 |
| 8:119243447:G:C | G164R | 0.984 |
| 8:119221669:C:T | S72F | 0.983 |
| 8:119221746:T:A | W98R | 0.982 |
| 8:119221746:T:C | W98R | 0.982 |
| 8:119208600:A:T | E43V | 0.981 |
| 8:119240315:G:C | A152P | 0.981 |
| 8:119221593:G:A | G47R | 0.980 |
| 8:119221593:G:C | G47R | 0.980 |
| 8:119221618:C:A | A55D | 0.980 |
| 8:119221655:G:C | W67C | 0.980 |
| 8:119221655:G:T | W67C | 0.980 |
| 8:119240204:G:A | G115R | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000032168 (8:119216636 C>T), RS1000064212 (8:119235610 C>G,T), RS1000087977 (8:119226506 G>A,C,T), RS1000106701 (8:119216416 C>T), RS1000139935 (8:119222834 A>G), RS1000284380 (8:119222482 C>T), RS1000301155 (8:119243283 T>A,C,G), RS1000354910 (8:119240599 CAA>C,CAAA), RS1000517732 (8:119217221 C>T), RS1000565028 (8:119242159 A>G), RS1000637119 (8:119241954 G>A), RS1000741431 (8:119245627 A>G), RS1000936943 (8:119232509 A>G), RS1001228567 (8:119245020 T>A), RS1001300969 (8:119240550 A>G)
Disease associations
OMIM: gene MIM:609684 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000461_5 | Hippocampal atrophy | 9.000000e-06 |
| GCST002546_1 | Osteoprotegerin levels | 8.000000e-15 |
| GCST002546_4 | Osteoprotegerin levels | 8.000000e-09 |
| GCST002587_13 | Blood pressure (smoking interaction) | 2.000000e-07 |
| GCST002587_14 | Blood pressure (smoking interaction) | 4.000000e-06 |
| GCST007209_13 | Gallstone disease | 9.000000e-12 |
| GCST90011899_152 | Aspartate aminotransferase levels | 6.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005039 | hippocampal atrophy |
| EFO:0006335 | systolic blood pressure |
| EFO:0006526 | pack-years measurement |
| EFO:0006525 | cigarettes per day measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067291 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.75 | Kd | 176.6 | nM | CHEMBL3752910 |
| 6.75 | ED50 | 176.6 | nM | CHEMBL3752910 |
| 5.77 | Kd | 1683 | nM | CHEMBL5653589 |
| 5.77 | ED50 | 1683 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148682: Binding affinity to human MAL2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.1766 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148682: Binding affinity to human MAL2 incubated for 45 mins by Kinobead based pull down assay | kd | 1.6829 | uM |
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Acetaminophen | decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| potassium chromate(VI) | increases expression, affects cotreatment, decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cupric chloride | decreases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| chromium hexavalent ion | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Azathioprine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 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 |
|---|---|---|---|
| CHEMBL5651724 | Binding | Binding affinity to human MAL2 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 |
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): gallstones