MPZL1
gene geneOn this page
Also known as PZRFLJ21047
Summary
MPZL1 (myelin protein zero like 1, HGNC:7226) is a protein-coding gene on chromosome 1q24.2, encoding Myelin protein zero-like protein 1 (O95297). Cell surface receptor, which is involved in signal transduction processes.
Predicted to enable structural molecule activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway and cell-cell signaling. Located in cell surface and focal adhesion.
Source: NCBI Gene 9019 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 43 total
- MANE Select transcript:
NM_003953
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7226 |
| Approved symbol | MPZL1 |
| Name | myelin protein zero like 1 |
| Location | 1q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PZR, FLJ21047 |
| Ensembl gene | ENSG00000197965 |
| Ensembl biotype | protein_coding |
| OMIM | 604376 |
| Entrez | 9019 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000359523, ENST00000367853, ENST00000392121, ENST00000403379, ENST00000448405, ENST00000464954, ENST00000465787, ENST00000474729, ENST00000474859, ENST00000487858, ENST00000498279, ENST00000886874, ENST00000917995, ENST00000966246, ENST00000966247
RefSeq mRNA: 3 — MANE Select: NM_003953
NM_001146191, NM_003953, NM_024569
CCDS: CCDS1264, CCDS44273, CCDS53425
Canonical transcript exons
ENST00000359523 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001944536 | 167787820 | 167791919 |
| ENSE00003469245 | 167721982 | 167722242 |
| ENSE00003520577 | 167773236 | 167773368 |
| ENSE00003565072 | 167765583 | 167765749 |
| ENSE00003633541 | 167776064 | 167776166 |
| ENSE00003654118 | 167772275 | 167772488 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 98.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.1319 / max 266.0354, expressed in 1818 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6456 | 50.8411 | 1818 |
| 6455 | 0.2908 | 128 |
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 | 98.29 | gold quality |
| gall bladder | UBERON:0002110 | 97.70 | gold quality |
| cortical plate | UBERON:0005343 | 97.49 | gold quality |
| rectum | UBERON:0001052 | 97.13 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 96.97 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.92 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.87 | gold quality |
| left uterine tube | UBERON:0001303 | 96.86 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.58 | gold quality |
| omental fat pad | UBERON:0010414 | 96.46 | gold quality |
| peritoneum | UBERON:0002358 | 96.45 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.29 | gold quality |
| right coronary artery | UBERON:0001625 | 96.27 | gold quality |
| ectocervix | UBERON:0012249 | 96.14 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.12 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.09 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 96.04 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.99 | gold quality |
| lower esophagus | UBERON:0013473 | 95.97 | gold quality |
| endocervix | UBERON:0000458 | 95.83 | gold quality |
| mouth mucosa | UBERON:0003729 | 95.83 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.73 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 95.68 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.67 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.64 | gold quality |
| ventricular zone | UBERON:0003053 | 95.64 | gold quality |
| ascending aorta | UBERON:0001496 | 95.60 | gold quality |
| esophagus | UBERON:0001043 | 95.53 | gold quality |
| left coronary artery | UBERON:0001626 | 95.52 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.33 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | no | 3.78 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
159 targeting MPZL1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
Literature-anchored findings (GeneRIF, showing 14)
- PZR is a major receptor of ConA and has an important role in cell signaling via c-Src. Considering the various biological activities of ConA, the study of PZR may have major therapeutic implications (PMID:11751924)
- Characterization of PZR1b, an alternative spliced isoform of PZR. (PMID:12684038)
- the MPZL1/PZR gene may be important in the predisposition to schizophrenia among Han Chinese (PMID:16702974)
- Phosphorylation and localization of PZR in cultured endothelial cells is reported. (PMID:18568953)
- Clinico-electrophysiological features and MRI findings are described in leg musculature from three patients belonging to a CMT2J pedigree due to MPZ Thr124Met mutation. (PMID:19629567)
- MPZL1 is a target gene within the 1q24.1-24.2 amplicon that plays a pivotal role in HCC cell migration and tumor metastasis, and a novel MPZL1/Src/cortactin signaling cascade. (PMID:24296779)
- These data demonstrate that the formation of this MPZL1-PTPN11-GRB2 complex is triggered by the attachment of HER2+ breast cancer cells to fibronectin. (PMID:28912526)
- dimerization of MPZL1 participates in control of its signal transmission in cell adhesion. (PMID:30392906)
- Data indicate that myelin protein zero-like 1 (PZR) may promote the invasion and migration of colorectal cancer (CRC) cells through increasing the phosphorylation of focal adhesion kinase (FAK) and protooncogene SRC (Src). (PMID:30877754)
- High MPZL1 expression is associated with proliferation and metastasis of ovarian cancer. (PMID:31233194)
- The present study showed that the expression and protein levels of MPZL1 were significantly higher in gallbladder carcinoma tissues, especially in patients diagnosed with advanced tumor stages. (PMID:31322261)
- LncRNA TNFRSF10A-AS1 promotes gastric cancer by directly binding to oncogenic MPZL1 and is associated with patient outcome. (PMID:35637954)
- MPZL1 upregulation promotes tumor metastasis and correlates with unfavorable prognosis in non-small cell lung cancer. (PMID:35727197)
- MPZL1 Promotes Lung Adenocarcinoma Progression by Enhancing Tumor Proliferation, Invasion, Migration, and Suppressing Immune Function via Transforming Growth Factor-beta1. (PMID:37183407)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mpzl1l | ENSDARG00000059048 |
| mus_musculus | Mpzl1 | ENSMUSG00000026566 |
| rattus_norvegicus | Mpzl1 | ENSRNOG00000003248 |
Paralogs (6): MPZL2 (ENSG00000149573), SCN2B (ENSG00000149575), MPZ (ENSG00000158887), MPZL3 (ENSG00000160588), JAML (ENSG00000160593), SCN4B (ENSG00000177098)
Protein
Protein identifiers
Myelin protein zero-like protein 1 — O95297 (reviewed: O95297)
Alternative names: Protein zero-related
All UniProt accessions (4): A8K5D4, F8WFC4, O95297, Q9UEL6
UniProt curated annotations — full annotation on UniProt →
Function. Cell surface receptor, which is involved in signal transduction processes. Recruits PTPN11/SHP-2 to the cell membrane and is a putative substrate of PTPN11/SHP-2. Is a major receptor for concanavalin-A (ConA) and is involved in cellular signaling induced by ConA, which probably includes Src family tyrosine-protein kinases. Isoform 3 seems to have a dominant negative role; it blocks tyrosine phosphorylation of MPZL1 induced by ConA. Isoform 1, but not isoform 2 and isoform 3, may be involved in regulation of integrin-mediated cell motility.
Subunit / interactions. Interacts with phosphorylated PTPN11/SHP-2.
Subcellular location. Membrane.
Tissue specificity. Widely expressed with highest levels in heart, placenta, kidney and pancreas. Isoform 3 is relatively abundant in hematopoietic tissues and fetal liver. Isoform 1 and isoform 3 are expressed in CD14- PB monocytes and pre-B cell progenitors. Isoform 3 appears to be the major isoform in CD34- promyelocytic and promonocytic cells. During differentiation in monocytic cells, the expression level of isoform 3 decreases and that of isoform 1 increases. Isoform 1 is prominent in stromal cells and, to a lesser extent, in umbilical vein endothelial cells and erythroid progenitors. Isoform 2 is expressed in a erythroid progenitor cell line.
Post-translational modifications. Phosphorylated on tyrosine residues upon stimulation with pervanadate and concanavalin-A (ConA). Phosphorylation at Tyr-241 and Tyr-263 is required for interaction with PTPN11/SHP-2. Dephosphorylated by PTPN11/SHP-2 (in vitro). N-glycosylated. N-glycosylation is required for concanavalin A binding.
Domain organisation. Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
Similarity. Belongs to the myelin P0 protein family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95297-1 | 1, MPZL1a | yes |
| O95297-2 | 2, PZR1a | |
| O95297-3 | 3, PZR1b | |
| O95297-4 | 4, MPZL1b | |
| O95297-5 | 5 |
RefSeq proteins (3): NP_001139663, NP_003944, NP_078845 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000920 | Myelin_P0-rel | Family |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
Pfam: PF07686
UniProt features (47 total): strand 13, modified residue 9, splice variant 4, helix 3, glycosylation site 2, topological domain 2, mutagenesis site 2, sequence conflict 2, short sequence motif 2, signal peptide 1, chain 1, disulfide bond 1, transmembrane region 1, turn 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9MQ5 | X-RAY DIFFRACTION | 1.7 |
| 6IGW | X-RAY DIFFRACTION | 1.98 |
| 6IGT | X-RAY DIFFRACTION | 2.4 |
| 6IGO | X-RAY DIFFRACTION | 2.75 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95297-F1 | 77.32 | 0.47 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (9): 204, 206, 208, 210, 219, 221, 241, 260, 263
Disulfide bonds (1): 58–135
Glycosylation sites (2): 50, 130
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 241 | significantly decreases phosphorylation. complete loss of phosphorylation; when associated with f-263. |
| 263 | significantly decreases phosphorylation. complete loss of phosphorylation; when associated with f-241. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 209 (showing top):
BORCZUK_MALIGNANT_MESOTHELIOMA_UP, MODULE_64, GOZGIT_ESR1_TARGETS_DN, GCAAGGA_MIR502, GOCC_CELL_SURFACE, MORF_RAD51L3, GOBP_CELL_CELL_SIGNALING, PATIL_LIVER_CANCER, WEI_MYCN_TARGETS_WITH_E_BOX, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, MORF_CTSB, MORF_IL4, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN
GO Biological Process (2): cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169), cell-cell signaling (GO:0007267)
GO Molecular Function (2): structural molecule activity (GO:0005198), protein binding (GO:0005515)
GO Cellular Component (4): plasma membrane (GO:0005886), focal adhesion (GO:0005925), cell surface (GO:0009986), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| enzyme-linked receptor protein signaling pathway | 1 |
| cell communication | 1 |
| signaling | 1 |
| molecular_function | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-substrate junction | 1 |
Protein interactions and networks
STRING
796 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MPZL1 | PMP22 | Q01453 | 955 |
| MPZL1 | RNMT | O43148 | 901 |
| MPZL1 | PTPN11 | Q06124 | 880 |
| MPZL1 | GJB1 | P08034 | 864 |
| MPZL1 | MBP | P02686 | 859 |
| MPZL1 | GDAP1 | Q8TB36 | 841 |
| MPZL1 | EGR2 | P11161 | 827 |
| MPZL1 | MAG | P20916 | 821 |
| MPZL1 | SIRPA | P78324 | 818 |
| MPZL1 | PRX | Q9BXM0 | 817 |
| MPZL1 | MTMR2 | Q13614 | 685 |
| MPZL1 | SOX10 | P56693 | 685 |
| MPZL1 | NEFL | P07196 | 601 |
| MPZL1 | PRMT2 | P55345 | 549 |
| MPZL1 | PLP1 | P04400 | 522 |
IntAct
109 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PTPN11 | MPZL1 | psi-mi:“MI:0914”(association) | 0.670 |
| PTPN11 | MPZL1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| MPZL1 | MFF | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPZL1 | MPZL1 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| PICK1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM30B | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| FCGRT | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| CLGN | NPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCT8L2 | ACSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRNA4 | FZD6 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| RAP1BL | psi-mi:“MI:0915”(physical association) | 0.400 | |
| NOXRED1 | MPZL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMEM65 | MPZL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (195): MPZL1 (Two-hybrid), MPZL1 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), MPZL1 (Two-hybrid), MPZL1 (Two-hybrid), MPZL1 (Proximity Label-MS), MPZL1 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS), MPZL1 (Affinity Capture-MS)
ESM2 similar proteins: A4FUY1, M0RAS4, O18796, O60939, O75144, O95297, P01857, P01859, P01860, P01861, P07722, P20916, P20917, P51641, P54900, P97546, Q07212, Q08E08, Q14CZ8, Q15223, Q1WIM1, Q1WIM3, Q2KI11, Q32PI9, Q3TEW6, Q56A07, Q640R3, Q6AYP5, Q6AYT8, Q7M729, Q7M730, Q7TNR6, Q864L3, Q8BHK2, Q8HXJ7, Q8IWT1, Q8N126, Q8NFZ8, Q8R464, Q8R5M8
Diamond homologs: A0JM41, A2VD98, A5D7C3, O60487, O60939, O70255, O95297, P06907, P10522, P20938, P25189, P27573, P37301, P54900, Q29RR6, Q32PI9, Q3TEW6, Q3V3F6, Q4KLY3, Q5EAB0, Q5R804, Q6AYT8, Q6UWV2, Q6WEB5, Q7M729, Q7M730, Q86XK7, Q8AVM3, Q8IWT1, Q9D2J4, Q9PWR4, Q08E08, P78310, P97792, Q56A07, Q5R764, Q864L3, Q86YT9, Q8WMV3, Q91664
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SRC | up-regulates | MPZL1 | phosphorylation |
| PTPN11 | down-regulates | MPZL1 | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1452 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:167722238:GCTCT:G | donor_gain | 1.0000 |
| 1:167722239:CTCT:C | donor_gain | 1.0000 |
| 1:167722241:CT:C | donor_gain | 1.0000 |
| 1:167722241:CTGT:C | donor_loss | 1.0000 |
| 1:167722242:TGT:T | donor_loss | 1.0000 |
| 1:167722243:G:C | donor_loss | 1.0000 |
| 1:167722243:G:GG | donor_gain | 1.0000 |
| 1:167722244:T:A | donor_loss | 1.0000 |
| 1:167765581:A:AG | acceptor_gain | 1.0000 |
| 1:167765581:AGT:A | acceptor_gain | 1.0000 |
| 1:167765582:G:GA | acceptor_gain | 1.0000 |
| 1:167765582:GT:G | acceptor_gain | 1.0000 |
| 1:167765582:GTG:G | acceptor_gain | 1.0000 |
| 1:167765582:GTGAC:G | acceptor_gain | 1.0000 |
| 1:167765746:GTCG:G | donor_gain | 1.0000 |
| 1:167765747:TCGG:T | donor_loss | 1.0000 |
| 1:167765748:CGGT:C | donor_loss | 1.0000 |
| 1:167765750:G:GG | donor_gain | 1.0000 |
| 1:167765750:GTAA:G | donor_loss | 1.0000 |
| 1:167765751:T:A | donor_loss | 1.0000 |
| 1:167772273:A:AG | acceptor_gain | 1.0000 |
| 1:167772274:G:GA | acceptor_gain | 1.0000 |
| 1:167772469:GCTC:G | donor_gain | 1.0000 |
| 1:167772484:AAAAG:A | donor_loss | 1.0000 |
| 1:167772486:AAGG:A | donor_loss | 1.0000 |
| 1:167772487:AGGTA:A | donor_loss | 1.0000 |
| 1:167772488:GGTA:G | donor_loss | 1.0000 |
| 1:167772490:T:G | donor_loss | 1.0000 |
| 1:167773235:GA:G | acceptor_gain | 1.0000 |
| 1:167773235:GAGA:G | acceptor_gain | 1.0000 |
AlphaMissense
1735 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:167772419:T:A | C135S | 0.998 |
| 1:167772420:G:A | C135Y | 0.998 |
| 1:167772420:G:C | C135S | 0.998 |
| 1:167765711:T:A | W74R | 0.997 |
| 1:167765711:T:C | W74R | 0.997 |
| 1:167772413:T:G | Y133D | 0.997 |
| 1:167772419:T:C | C135R | 0.997 |
| 1:167765663:T:A | C58S | 0.996 |
| 1:167765664:G:C | C58S | 0.996 |
| 1:167765713:G:C | W74C | 0.996 |
| 1:167765713:G:T | W74C | 0.996 |
| 1:167772421:T:G | C135W | 0.996 |
| 1:167772426:T:A | V137D | 0.996 |
| 1:167765664:G:A | C58Y | 0.995 |
| 1:167765665:C:G | C58W | 0.994 |
| 1:167772420:G:T | C135F | 0.994 |
| 1:167765663:T:C | C58R | 0.993 |
| 1:167772371:T:C | S119P | 0.993 |
| 1:167772408:G:T | G131V | 0.993 |
| 1:167772343:G:C | W109C | 0.992 |
| 1:167772343:G:T | W109C | 0.992 |
| 1:167772375:T:A | I120N | 0.992 |
| 1:167772407:G:T | G131C | 0.992 |
| 1:167765664:G:T | C58F | 0.991 |
| 1:167765670:T:G | F60C | 0.991 |
| 1:167765706:T:A | V72D | 0.991 |
| 1:167772324:T:G | F103C | 0.991 |
| 1:167772408:G:A | G131D | 0.991 |
| 1:167772477:T:A | V154D | 0.991 |
| 1:167765717:T:C | F76L | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000022546 (1:167784814 A>G), RS1000080603 (1:167762698 G>A), RS1000143127 (1:167738752 C>T), RS1000154350 (1:167762437 C>T), RS1000176964 (1:167736880 A>G), RS1000189272 (1:167789473 G>A), RS1000226742 (1:167780258 T>C), RS1000230751 (1:167736624 C>T), RS1000266350 (1:167726347 A>C), RS1000314833 (1:167744577 G>C,T), RS1000554627 (1:167737312 C>G), RS1000601190 (1:167724306 G>A), RS1000656666 (1:167743223 T>C), RS1000703672 (1:167731378 A>G), RS1000707829 (1:167772987 T>C)
Disease associations
OMIM: gene MIM:604376 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001658_4 | Alzheimer’s disease (late onset) | 1.000000e-06 |
| GCST003265_214 | Post bronchodilator FEV1/FVC ratio in COPD | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004713 | FEV/FVC ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
65 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 5 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression, affects cotreatment | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| ascorbate-2-phosphate | affects binding, affects cotreatment, increases expression | 1 |
| trichostatin A | increases expression | 1 |
| diethyl maleate | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid | affects cotreatment, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Chir 99021 | affects binding, affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| XAV939 | affects cotreatment, increases expression, affects binding | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| 3-(4-pyridyl)-1H-indole | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Adenine | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1XI | Abcam HeLa MPZL1 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.