MPP1
gene geneOn this page
Also known as PEMP
Summary
MPP1 (MAGUK p55 scaffold protein 1, HGNC:7219) is a protein-coding gene on chromosome Xq28, encoding 55 kDa erythrocyte membrane protein (Q00013). Essential regulator of neutrophil polarity.
This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 4354 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 170 total
- MANE Select transcript:
NM_002436
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7219 |
| Approved symbol | MPP1 |
| Name | MAGUK p55 scaffold protein 1 |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PEMP |
| Ensembl gene | ENSG00000130830 |
| Ensembl biotype | protein_coding |
| OMIM | 305360 |
| Entrez | 4354 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 15 protein_coding, 5 retained_intron, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000369531, ENST00000369534, ENST00000393529, ENST00000393531, ENST00000413259, ENST00000417435, ENST00000428488, ENST00000439370, ENST00000453245, ENST00000462825, ENST00000471821, ENST00000475943, ENST00000482757, ENST00000488694, ENST00000488754, ENST00000491955, ENST00000493871, ENST00000494170, ENST00000907097, ENST00000907098, ENST00000907099, ENST00000907100, ENST00000934478, ENST00000955645, ENST00000955646, ENST00000955647
RefSeq mRNA: 4 — MANE Select: NM_002436
NM_001166460, NM_001166461, NM_001166462, NM_002436
CCDS: CCDS14762, CCDS55544, CCDS55545
Canonical transcript exons
ENST00000369534 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001696815 | 154805272 | 154805485 |
| ENSE00001863406 | 154778684 | 154779353 |
| ENSE00003492827 | 154791769 | 154791847 |
| ENSE00003516788 | 154790983 | 154791068 |
| ENSE00003531049 | 154785051 | 154785157 |
| ENSE00003533989 | 154781239 | 154781313 |
| ENSE00003568212 | 154784028 | 154784108 |
| ENSE00003627769 | 154789954 | 154790022 |
| ENSE00003635533 | 154792142 | 154792285 |
| ENSE00003637682 | 154781600 | 154781802 |
| ENSE00003641614 | 154783427 | 154783507 |
| ENSE00003644786 | 154786204 | 154786400 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 98.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.8755 / max 2647.6399, expressed in 1634 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 201069 | 38.7370 | 1618 |
| 201067 | 3.0590 | 841 |
| 201066 | 1.2521 | 578 |
| 201065 | 0.7524 | 349 |
| 201068 | 0.2708 | 115 |
| 201071 | 0.2678 | 41 |
| 201070 | 0.2591 | 94 |
| 201062 | 0.2159 | 40 |
| 201063 | 0.0525 | 18 |
| 201061 | 0.0089 | 5 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 98.46 | gold quality |
| mononuclear cell | CL:0000842 | 98.28 | gold quality |
| leukocyte | CL:0000738 | 98.06 | gold quality |
| blood | UBERON:0000178 | 97.92 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.76 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 97.53 | gold quality |
| bone marrow | UBERON:0002371 | 96.98 | gold quality |
| bone marrow cell | CL:0002092 | 96.12 | gold quality |
| duodenum | UBERON:0002114 | 95.63 | gold quality |
| right lung | UBERON:0002167 | 95.27 | gold quality |
| spleen | UBERON:0002106 | 95.07 | gold quality |
| granulocyte | CL:0000094 | 94.51 | gold quality |
| thymus | UBERON:0002370 | 94.49 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.45 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.42 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.39 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.36 | gold quality |
| gall bladder | UBERON:0002110 | 94.27 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.13 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.08 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.06 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.05 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.94 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.78 | gold quality |
| cerebellum | UBERON:0002037 | 93.59 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.57 | gold quality |
| placenta | UBERON:0001987 | 93.53 | gold quality |
| pons | UBERON:0000988 | 93.44 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.42 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.31 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 155.19 |
| E-MTAB-6701 | yes | 124.49 |
| E-MTAB-10042 | yes | 33.22 |
| E-MTAB-9221 | yes | 23.98 |
| E-CURD-122 | yes | 23.47 |
| E-HCAD-10 | yes | 16.85 |
| E-MTAB-9067 | yes | 12.98 |
| E-MTAB-6678 | yes | 12.04 |
| E-MTAB-9388 | yes | 10.31 |
| E-HCAD-1 | yes | 7.83 |
| E-HCAD-9 | yes | 7.60 |
| E-MTAB-9467 | yes | 5.25 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting MPP1, 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-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-1912-3P | 99.32 | 67.40 | 936 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-1295B-5P | 99.03 | 67.50 | 810 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-3135B | 98.61 | 65.33 | 1470 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-6873-5P | 98.45 | 66.14 | 1417 |
| HSA-MIR-6864-5P | 98.38 | 66.59 | 1079 |
Literature-anchored findings (GeneRIF, showing 10)
- Results show the NMR-derived structure of the human erythroid p55 PDZ domain and propose a possible interaction mode with the C-terminus of glycophorin C. (PMID:16741958)
- MPP1 links the Usher protein network and the Crumbs protein complex in the retina (PMID:17584769)
- p55 binds to two distinct sites within the FERM domain, and the alternatively spliced exon 5 is necessary for the membrane targeting of protein 4.1R in epithelial cells. (PMID:18952129)
- p55-NF2 protein interaction may play a functional role in the regulation of apico-basal polarity and tumor suppression pathways in non-erythroid cells. (PMID:19144871)
- MPP1 gene expression is decreased in both classic and follicular variants of papillary thyroid carcinoma. (PMID:21509594)
- MPP1 knockdown significantly affects the activation of MAP-kinase signaling. (PMID:23507198)
- Studies indicate that palmitoylated erythrocyte membrane protein p55 (MPP1) and its palmitoylation play a crucial role in lateral membrane organization in erythroid cells. (PMID:25408337)
- conclusion, the data demonstrates that MPP1 interacts with lipid mixtures in two different model membrane systems. (PMID:28653654)
- A new perspective on the role of MPP1 in erythroid cells suggests that direct MPP1-flotillins interactions could be the major driving-force behind the formation of raft domains in red blood cells. (PMID:28865798)
- Data suggest that targeting the ATP binding cassette subfamily C member 4 (ABCC4)-membrane palmitoylated protein 1 (MPP1) protein complex can lead to new therapies to improve treatment outcome of acute myeloid leukemia (AML). (PMID:29146910)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mpp1 | ENSDARG00000105287 |
| mus_musculus | Mpp1 | ENSMUSG00000031402 |
| drosophila_melanogaster | CASK | FBGN0013759 |
| drosophila_melanogaster | metro | FBGN0050021 |
| drosophila_melanogaster | vari | FBGN0250785 |
| caenorhabditis_elegans | WBGENE00002991 | |
| caenorhabditis_elegans | magu-3 | WBGENE00016841 |
| caenorhabditis_elegans | WBGENE00021914 |
Paralogs (7): PALS1 (ENSG00000072415), MPP4 (ENSG00000082126), PALS2 (ENSG00000105926), MPP2 (ENSG00000108852), CASK (ENSG00000147044), MPP7 (ENSG00000150054), MPP3 (ENSG00000161647)
Protein
Protein identifiers
55 kDa erythrocyte membrane protein — Q00013 (reviewed: Q00013)
Alternative names: Membrane protein, palmitoylated 1
All UniProt accessions (7): Q00013, A6NFY0, A8MTH1, C9J9J4, C9JB34, F8WC84, F8WDV6
UniProt curated annotations — full annotation on UniProt →
Function. Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity.
Subunit / interactions. Heterodimer with PALS1. Interacts with DLG5 and NF2. Interacts (via guanylate kinase-like domain) with WHRN (via third PDZ domain).
Subcellular location. Cell membrane. Cell projection. Stereocilium.
Tissue specificity. Ubiquitous.
Post-translational modifications. Palmitoylated.
Similarity. Belongs to the MAGUK family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q00013-1 | 1 | yes |
| Q00013-2 | 2 | |
| Q00013-3 | 3 |
RefSeq proteins (4): NP_001159932, NP_001159933, NP_001159934, NP_002427* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR001478 | PDZ | Domain |
| IPR008144 | Guanylate_kin-like_dom | Domain |
| IPR008145 | GK/Ca_channel_bsu | Domain |
| IPR020590 | Guanylate_kinase_CS | Conserved_site |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR035475 | MPP1_SH3 | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR050716 | MAGUK | Family |
Pfam: PF00018, PF00595, PF00625
UniProt features (45 total): strand 14, helix 10, modified residue 8, domain 3, turn 3, splice variant 2, initiator methionine 1, chain 1, sequence variant 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3NEY | X-RAY DIFFRACTION | 2.26 |
| 2EJY | SOLUTION NMR | |
| 2EV8 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q00013-F1 | 78.77 | 0.51 |
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 (8): 52, 57, 110, 243, 2, 13, 19, 49
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9662361 | Sensory processing of sound by outer hair cells of the cochlea |
MSigDB gene sets: 364 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, KAAB_FAILED_HEART_ATRIUM_DN, GOBP_RESPONSE_TO_FLUID_SHEAR_STRESS, MODULE_45, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, LUCAS_HNF4A_TARGETS_UP, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GNF2_ANK1, GOBP_LEUKOCYTE_CHEMOTAXIS
GO Biological Process (4): signal transduction (GO:0007165), regulation of neutrophil chemotaxis (GO:0090022), GMP metabolic process (GO:0046037), GDP metabolic process (GO:0046710)
GO Molecular Function (3): GMP kinase activity (GO:0004385), signaling receptor binding (GO:0005102), protein binding (GO:0005515)
GO Cellular Component (10): plasma membrane (GO:0005886), cell-cell junction (GO:0005911), membrane (GO:0016020), cortical cytoskeleton (GO:0030863), stereocilium (GO:0032420), centriolar satellite (GO:0034451), cytoskeleton (GO:0005856), cell projection (GO:0042995), organelle (GO:0043226), cell periphery (GO:0071944)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Sensory processing of sound | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| purine ribonucleotide metabolic process | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| neutrophil chemotaxis | 1 |
| regulation of granulocyte chemotaxis | 1 |
| regulation of neutrophil migration | 1 |
| purine ribonucleoside monophosphate metabolic process | 1 |
| purine ribonucleoside diphosphate metabolic process | 1 |
| GMP metabolic process | 1 |
| GDP metabolic process | 1 |
| nucleoside monophosphate kinase activity | 1 |
| protein binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| anchoring junction | 1 |
| cytoskeleton | 1 |
| cell cortex | 1 |
| stereocilium bundle | 1 |
| neuron projection | 1 |
| actin-based cell projection | 1 |
| centrosome | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1738 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MPP1 | EPB41 | P11171 | 871 |
| MPP1 | KIF13B | Q9NQT8 | 769 |
| MPP1 | GYPC | P04921 | 735 |
| MPP1 | WHRN | Q9P202 | 701 |
| MPP1 | LIN7A | O14910 | 663 |
| MPP1 | LRRC4C | Q9HCJ2 | 649 |
| MPP1 | SORBS3 | O60504 | 648 |
| MPP1 | EPB41L2 | O43491 | 592 |
| MPP1 | DMTN | Q08495 | 585 |
| MPP1 | DLG5 | Q8TDM6 | 566 |
| MPP1 | MYO15A | Q9UKN7 | 565 |
| MPP1 | G6PD | P11413 | 564 |
| MPP1 | TJP1 | Q07157 | 560 |
| MPP1 | USH1G | Q495M9 | 543 |
| MPP1 | ADGRV1 | Q8WXG9 | 533 |
IntAct
174 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MPP1 | ABCC4 | psi-mi:“MI:0407”(direct interaction) | 0.780 |
| MPP1 | ABCC4 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ABCC4 | MPP1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| MPP1 | ABCC4 | psi-mi:“MI:2364”(proximity) | 0.780 |
| ABCC4 | MPP1 | psi-mi:“MI:0407”(direct interaction) | 0.780 |
| KLHL12 | MPP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MPP1 | DNPEP | psi-mi:“MI:0915”(physical association) | 0.720 |
| DNPEP | MPP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MPP1 | KLHL12 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MPP1 | GYPC | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| GYPC | MPP1 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| MPP1 | GYPC | psi-mi:“MI:0915”(physical association) | 0.680 |
| SRSF10 | MPP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPP1 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPP1 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (137): DNPEP (Two-hybrid), KLHL12 (Two-hybrid), AMOTL2 (Two-hybrid), MPP1 (Co-fractionation), MPP1 (Proximity Label-MS), DKC1 (Affinity Capture-MS), HDAC2 (Affinity Capture-MS), AGFG1 (Affinity Capture-MS), MPP1 (Affinity Capture-MS), MPP1 (Affinity Capture-MS), NCBP1 (Affinity Capture-MS), PRDX1 (Affinity Capture-MS), PRDX2 (Affinity Capture-MS), TAF1B (Affinity Capture-MS), FAM13A (Affinity Capture-MS)
ESM2 similar proteins: A1A5G4, A2ALK8, A8MUH7, A9CB74, F1M386, F1MSG6, F1PBJ0, O14745, O14907, O14936, O70589, P19878, P26045, P70290, P70441, P70600, Q00013, Q09506, Q14289, Q17QN6, Q28619, Q3SZK8, Q3T0X8, Q4L1J4, Q4R6G4, Q570Y9, Q5F488, Q5RCF7, Q5RDW4, Q5T2W1, Q5TCQ9, Q5ZIJ9, Q5ZJ00, Q60629, Q62915, Q69ZS7, Q6RHR9, Q865P3, Q8CHG7, Q8TB45
Diamond homologs: A6QQZ7, A8KBF6, A9CB74, B4F7E7, D3ZAA9, E2QY99, G5ECY0, O14936, O34328, O70589, O88910, O88954, P0C0M9, P15454, P31006, P31007, P44310, P46195, P49697, P54936, P65219, P65220, P65221, P70175, P70290, P72648, P93757, P99176, Q00013, Q13368, Q14168, Q15700, Q16774, Q17QN6, Q182S8, Q24210, Q2FHM9, Q2G1U0, Q2QPW1, Q2S8R2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
170 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
3088 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:154786277:A:G | W202R | 1.000 |
| X:154786277:A:T | W202R | 1.000 |
| X:154786274:A:G | W203R | 0.999 |
| X:154786274:A:T | W203R | 0.999 |
| X:154786275:C:A | W202C | 0.999 |
| X:154786275:C:G | W202C | 0.999 |
| X:154786213:A:G | L223P | 0.998 |
| X:154786225:G:T | P219H | 0.998 |
| X:154786231:A:G | L217S | 0.998 |
| X:154786276:C:G | W202S | 0.998 |
| X:154786324:A:G | F186S | 0.998 |
| X:154791800:T:A | R98S | 0.998 |
| X:154791800:T:G | R98S | 0.998 |
| X:154791801:C:A | R98I | 0.998 |
| X:154791801:C:G | R98T | 0.998 |
| X:154791847:C:G | G83R | 0.998 |
| X:154791847:C:T | G83R | 0.998 |
| X:154784082:A:C | Y271D | 0.997 |
| X:154786222:G:A | S220F | 0.997 |
| X:154786225:G:C | P219R | 0.997 |
| X:154786267:C:T | G205E | 0.997 |
| X:154786268:C:G | G205R | 0.997 |
| X:154786268:C:T | G205R | 0.997 |
| X:154786269:C:A | Q204H | 0.997 |
| X:154786269:C:G | Q204H | 0.997 |
| X:154786272:C:A | W203C | 0.997 |
| X:154786272:C:G | W203C | 0.997 |
| X:154786323:A:C | F186L | 0.997 |
| X:154786323:A:T | F186L | 0.997 |
| X:154786325:A:G | F186L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000267506 (X:154785303 G>A), RS1000631793 (X:154803983 A>T), RS1000707631 (X:154795582 T>C), RS1000982646 (X:154804776 C>T), RS1001306546 (X:154799794 G>C), RS1001382541 (X:154790430 T>C), RS1001436360 (X:154789795 G>A,T), RS1002254102 (X:154802225 T>A), RS1002349838 (X:154783063 A>G), RS1002388764 (X:154793058 T>C), RS1002664863 (X:154778458 C>T), RS1002933468 (X:154798404 C>T), RS1003020689 (X:154778896 C>T), RS1003115060 (X:154787534 T>A), RS1003396534 (X:154797810 C>A)
Disease associations
OMIM: gene MIM:305360 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001779_11 | Hematology traits | 1.000000e-11 |
| GCST001781_2 | Mean corpuscular volume | 4.000000e-10 |
| GCST001873_1 | Red blood cell traits | 2.000000e-16 |
| GCST001873_11 | Red blood cell traits | 4.000000e-19 |
| GCST001873_4 | Red blood cell traits | 4.000000e-18 |
| GCST001873_9 | Red blood cell traits | 4.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects cotreatment | 4 |
| Benzo(a)pyrene | decreases expression, increases methylation, affects methylation | 3 |
| Tretinoin | affects cotreatment, decreases reaction, increases expression | 3 |
| bisphenol A | affects expression, decreases methylation | 2 |
| sodium arsenite | affects expression, increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases reaction, increases expression | 2 |
| Air Pollutants | decreases expression, affects cotreatment, increases abundance, increases oxidation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| Chir 99021 | affects cotreatment, decreases reaction, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression, 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 | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3B5 | Abcam HEK293T MPP1 KO | Transformed 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.