MISP
gene geneOn this page
Also known as DKFZp686H18209CapriceMISP1
Summary
MISP (mitotic spindle positioning, HGNC:27000) is a protein-coding gene on chromosome 19p13.3, encoding Mitotic interactor and substrate of PLK1 (Q8IVT2). Plays a role in mitotic spindle orientation and mitotic progression.
The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene.
Source: NCBI Gene 126353 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 224 total
- Druggable target: yes
- MANE Select transcript:
NM_173481
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27000 |
| Approved symbol | MISP |
| Name | mitotic spindle positioning |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp686H18209, Caprice, MISP1 |
| Ensembl gene | ENSG00000099812 |
| Ensembl biotype | protein_coding |
| OMIM | 615289 |
| Entrez | 126353 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 21 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000215582, ENST00000614180, ENST00000871265, ENST00000871266, ENST00000871267, ENST00000871268, ENST00000871269, ENST00000871270, ENST00000871271, ENST00000871272, ENST00000871273, ENST00000871274, ENST00000871275, ENST00000871276, ENST00000871277, ENST00000871278, ENST00000871279, ENST00000871280, ENST00000871281, ENST00000871282, ENST00000871283, ENST00000871284
RefSeq mRNA: 1 — MANE Select: NM_173481
NM_173481
CCDS: CCDS12042
Canonical transcript exons
ENST00000215582 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000655141 | 759909 | 760039 |
| ENSE00000655143 | 756890 | 758726 |
| ENSE00000892413 | 761625 | 761663 |
| ENSE00001311215 | 763501 | 764318 |
| ENSE00001410788 | 751112 | 751171 |
Expression profiles
Bgee: expression breadth ubiquitous, 166 present calls, max score 99.00.
FANTOM5 (CAGE): breadth broad, TPM avg 6.4034 / max 134.0150, expressed in 348 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 172746 | 3.6109 | 318 |
| 172745 | 2.6957 | 313 |
| 208622 | 0.0969 | 73 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 99.00 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.66 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.01 | gold quality |
| duodenum | UBERON:0002114 | 96.88 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.68 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 96.61 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 93.86 | gold quality |
| rectum | UBERON:0001052 | 93.38 | gold quality |
| small intestine | UBERON:0002108 | 90.91 | gold quality |
| endometrium epithelium | UBERON:0004811 | 90.58 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.55 | gold quality |
| olfactory bulb | UBERON:0002264 | 89.75 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.34 | gold quality |
| type B pancreatic cell | CL:0000169 | 89.11 | silver quality |
| transverse colon | UBERON:0001157 | 88.71 | gold quality |
| jejunum | UBERON:0002115 | 88.59 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.74 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 87.56 | gold quality |
| bronchus | UBERON:0002185 | 87.25 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 85.89 | gold quality |
| bronchial epithelial cell | CL:0002328 | 85.78 | gold quality |
| right uterine tube | UBERON:0001302 | 85.68 | gold quality |
| amniotic fluid | UBERON:0000173 | 83.27 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 83.09 | silver quality |
| gall bladder | UBERON:0002110 | 83.04 | gold quality |
| diaphragm | UBERON:0001103 | 82.94 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 82.68 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 81.99 | silver quality |
| caecum | UBERON:0001153 | 81.80 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.17 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 70.34 |
| E-MTAB-8410 | yes | 22.65 |
| E-GEOD-86618 | no | 153.66 |
| E-MTAB-6386 | no | 2.97 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting MISP, 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-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-4761-5P | 99.51 | 66.69 | 804 |
| HSA-MIR-4641 | 99.28 | 66.64 | 744 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-4726-3P | 98.49 | 63.89 | 1385 |
| HSA-MIR-6864-5P | 98.38 | 66.59 | 1079 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-6735-5P | 98.24 | 65.36 | 1488 |
| HSA-MIR-7843-5P | 98.12 | 65.26 | 1421 |
| HSA-MIR-4494 | 97.86 | 64.93 | 850 |
| HSA-MIR-4632-5P | 97.82 | 65.38 | 1470 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
| HSA-MIR-3127-5P | 97.52 | 65.24 | 786 |
| HSA-MIR-3622A-3P | 97.06 | 66.43 | 1000 |
| HSA-MIR-6729-3P | 96.91 | 66.79 | 703 |
| HSA-MIR-3622B-3P | 96.82 | 66.36 | 988 |
| HSA-MIR-203A-5P | 96.33 | 65.03 | 714 |
Literature-anchored findings (GeneRIF, showing 10)
- Plk1 phosphorylates MISP, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. (PMID:23509069)
- MISP links microtubules to the actin cytoskeleton and focal adhesions in order to properly position the mitotic spindle. (PMID:23574715)
- Bundles F-actin and balances stress fiber-filopodial formation (PMID:24475924)
- MISP is an effector for cell type-specific actin reorganization with its direct actin-binding properties and provides a novel model of cell morphology regulation by a non-ubiquitous single actin-bundling protein. (PMID:24475924)
- MISP directly interacts with ezrin and that SLK/LOK-activated ezrin ensures appropriate cortical MISP levels in mitosis by competing with MISP for actin-binding sites at the cell cortex. (PMID:29669740)
- Modulation of actin-binding and -bundling activities of MISP/Caprice by multiple phosphorylation. (PMID:34023777)
- PLK1 and its substrate MISP facilitate intrahepatic cholangiocarcinoma progression by promoting lymphatic invasion and impairing E-cadherin adherens junctions. (PMID:38057358)
- Plants distinguish different photoperiods to independently control seasonal flowering and growth. (PMID:38330117)
- Mitotic spindle positioning protein (MISP) preferentially binds to aged F-actin. (PMID:38588808)
- MISP Is Overexpressed in Intestinal Metaplasia and Gastric Cancer. (PMID:38785491)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Misp | ENSMUSG00000035852 |
| rattus_norvegicus | Misp | ENSRNOG00000010423 |
Paralogs (1): MISP3 (ENSG00000141854)
Protein
Protein identifiers
Mitotic interactor and substrate of PLK1 — Q8IVT2 (reviewed: Q8IVT2)
Alternative names: Mitotic spindle positioning protein
All UniProt accessions (1): Q8IVT2
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in mitotic spindle orientation and mitotic progression. Regulates the distribution of dynactin at the cell cortex in a PLK1-dependent manner, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. May link microtubules to the actin cytospkeleton and focal adhesions. May be required for directed cell migration and centrosome orientation. May also be necessary for proper stacking of the Golgi apparatus.
Subunit / interactions. Associates with F-actin. Interacts with DCTN1; this interaction regulates DCTN1 distribution at the cell cortex. Interacts with PTK2/FAK and MAPRE1.
Subcellular location. Cell junction. Focal adhesion. Cytoplasm. Cytoskeleton. Cell cortex.
Post-translational modifications. Phosphorylated by CDK1 and PLK1. CDK1 is the priming kinase for PLK1 phosphorylation. Phosphorylation by PLK1 is required for proper spindle orientation at metaphase.
Similarity. Belongs to the MISP family.
RefSeq proteins (1): NP_775752* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029304 | AKAP2_C | Domain |
| IPR042779 | MISP/MISP3-like | Family |
Pfam: PF15304
UniProt features (67 total): modified residue 26, mutagenesis site 22, region of interest 6, compositionally biased region 6, sequence variant 5, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IVT2-F1 | 54.42 | 0.07 |
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 (26): 78, 156, 164, 172, 179, 214, 219, 224, 284, 287, 348, 377, 382, 394, 395, 397, 400, 430, 471, 541 …
Mutagenesis-validated functional residues (22):
| Position | Phenotype |
|---|---|
| 78 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 164 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 172 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 214 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 224 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 284 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 287 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 377 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 382 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 394 | drastic reduction in plk1 phosphorylation in vitro, no effect on cortical localization; when associated with a-382; a-39 |
| 394 | no effect on cortical localization; when associated with d-395; d-397; d-471; d-582 and d-586. |
| 395 | drastic reduction in plk1 phosphorylation in vitro, no effect on cortical localization; when associated with a-382; a-39 |
| 395 | no effect on cortical localization; when associated with d-394; d-397; d-471; d-582 and d-586. |
| 397 | drastic reduction in plk1 phosphorylation in vitro, no effect on cortical localization; when associated with a-382; a-39 |
| 397 | no effect on cortical localization; when associated with d-394; d-395; d-471; d-582 and d-586. |
| 471 | drastic reduction in plk1 phosphorylation in vitro, no effect on cortical localization; when associated with a-382; a-39 |
| 471 | no effect on cortical localization; when associated with d-394; d-395; d-397; d-582 and d-586. |
| 575 | almost complete loss of cdk1 phosphorylation in vitro, loss of plk1-binding, no effect on cortical localization; when as |
| 582 | drastic reduction in plk1 phosphorylation in vitro, no effect on cortical localization; when associated with a-382; a-39 |
| 582 | no effect on cortical localization; when associated with d-394; d-395; d-397; d-471 and d-586. |
| 586 | drastic reduction in plk1 phosphorylation in vitro, no effect on cortical localization; when associated with a-382; a-39 |
| 586 | no effect on cortical localization; when associated with d-394; d-395; d-397; d-471 and d-582. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 194 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GOBP_ESTABLISHMENT_OF_SPINDLE_ORIENTATION, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_SPINDLE_LOCALIZATION, GGAMTNNNNNTCCY_UNKNOWN, CHANDRAN_METASTASIS_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, MARTINEZ_RB1_TARGETS_UP, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_ORGANELLE_FISSION, GOCC_CENTROSOME, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_ORGANELLE_ASSEMBLY
GO Biological Process (9): establishment of mitotic spindle orientation (GO:0000132), cell migration (GO:0016477), cortical actin cytoskeleton organization (GO:0030866), astral microtubule organization (GO:0030953), cell division (GO:0051301), organelle localization (GO:0051640), establishment of centrosome localization (GO:0051660), mitotic spindle assembly (GO:0090307), regulation of protein localization to cell cortex (GO:1904776)
GO Molecular Function (3): actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (10): actin filament (GO:0005884), plasma membrane (GO:0005886), focal adhesion (GO:0005925), cell cortex (GO:0005938), spindle pole centrosome (GO:0031616), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cortical actin cytoskeleton (GO:0030864), anchoring junction (GO:0070161), mitotic spindle astral microtubule end (GO:1905721)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| actin cytoskeleton | 2 |
| cell periphery | 2 |
| mitotic cell cycle | 1 |
| establishment of mitotic spindle localization | 1 |
| establishment of spindle orientation | 1 |
| cell motility | 1 |
| actin cytoskeleton organization | 1 |
| cortical cytoskeleton organization | 1 |
| spindle organization | 1 |
| cytoplasmic microtubule organization | 1 |
| cellular process | 1 |
| localization | 1 |
| centrosome localization | 1 |
| establishment of localization in cell | 1 |
| establishment of organelle localization | 1 |
| mitotic sister chromatid segregation | 1 |
| mitotic spindle organization | 1 |
| spindle assembly | 1 |
| mitotic nuclear division | 1 |
| protein localization to cell cortex | 1 |
| regulation of protein localization to cell periphery | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| polymeric cytoskeletal fiber | 1 |
| membrane | 1 |
| cell-substrate junction | 1 |
| cytoplasm | 1 |
| spindle pole | 1 |
| centrosome | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| cortical cytoskeleton | 1 |
| cell junction | 1 |
| mitotic spindle astral microtubule | 1 |
| microtubule end | 1 |
Protein interactions and networks
STRING
570 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MISP | F8W876 | F8W876 | 720 |
| MISP | TULP4 | Q9NRJ4 | 720 |
| MISP | MASP2 | O00187 | 623 |
| MISP | MISP3 | Q96FF7 | 599 |
| MISP | PALM2AKAP2 | Q9Y2D5 | 571 |
| MISP | MYBL2 | P10244 | 564 |
| MISP | SAPCD2 | Q86UD0 | 511 |
| MISP | CDK1 | P06493 | 457 |
| MISP | PDZD11 | Q5EBL8 | 446 |
| MISP | PPP1R12A | O14974 | 443 |
| MISP | NUMA1 | Q14980 | 370 |
| MISP | MIPEP | Q99797 | 355 |
| MISP | CCT8 | P50990 | 354 |
| MISP | R3HDM4 | Q96D70 | 348 |
| MISP | FAXC | Q5TGI0 | 343 |
IntAct
273 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EZR | MISP | psi-mi:“MI:0915”(physical association) | 0.740 |
| MISP | BOLL | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | SF3A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | ZNF774 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | PRR5L | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | MAP1LC3C | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | ZNF620 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | BLZF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF2 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | IKZF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | PIH1D2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TERF1 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SF3A2 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF774 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | PNMA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO1 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIP6 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MISP | CEP76 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSF2BP | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP12-3 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPRASP3 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| HNRNPK | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFHC2 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (224): MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS), MISP (Affinity Capture-MS)
ESM2 similar proteins: A2A7S8, A2AI08, A5D7K1, B0BN13, O54931, O75128, Q13796, Q2NL68, Q32LQ1, Q3U2K0, Q499V8, Q4KMQ1, Q5JTD0, Q5JXC2, Q5NBX1, Q5RBH3, Q5SW24, Q5SX79, Q5T0Z8, Q5XHX2, Q68DK7, Q6P9J5, Q6PDH0, Q6PDM1, Q6PFX7, Q7TN08, Q7TT28, Q7Z591, Q86WR7, Q8BG26, Q8BI29, Q8BRV5, Q8C5R2, Q8CC35, Q8CCJ4, Q8IVT2, Q8IY92, Q8K124, Q8N3V7, Q8N7J2
Diamond homologs: Q5RBH3, Q8IVT2, Q96FF7, Q9D279
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 100 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 |
|---|---|---|---|
| Sensory processing of sound by inner hair cells of the cochlea | 5 | 14.1× | 2e-03 |
| RHO GTPase Effectors | 7 | 8.2× | 2e-03 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 9 | 5.2× | 2e-03 |
| Signaling by Rho GTPases | 8 | 4.7× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
224 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 186 |
| Likely benign | 16 |
| Benign | 9 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
634 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:756888:A:AG | acceptor_gain | 1.0000 |
| 19:756889:G:GG | acceptor_gain | 1.0000 |
| 19:756889:GTAA:G | acceptor_gain | 1.0000 |
| 19:759906:CAGG:C | acceptor_loss | 1.0000 |
| 19:759907:A:AG | acceptor_gain | 1.0000 |
| 19:759907:A:AT | acceptor_loss | 1.0000 |
| 19:759907:AG:A | acceptor_gain | 1.0000 |
| 19:759908:G:GG | acceptor_gain | 1.0000 |
| 19:759908:GG:G | acceptor_gain | 1.0000 |
| 19:759908:GGC:G | acceptor_gain | 1.0000 |
| 19:759908:GGCA:G | acceptor_gain | 1.0000 |
| 19:759908:GGCAT:G | acceptor_gain | 1.0000 |
| 19:760038:GG:G | donor_gain | 1.0000 |
| 19:760038:GGGTG:G | donor_loss | 1.0000 |
| 19:760039:GG:G | donor_gain | 1.0000 |
| 19:760039:GGT:G | donor_loss | 1.0000 |
| 19:760040:G:GA | donor_loss | 1.0000 |
| 19:760040:G:GG | donor_gain | 1.0000 |
| 19:760042:GA:G | donor_loss | 1.0000 |
| 19:761619:CTGTA:C | acceptor_loss | 1.0000 |
| 19:761620:T:A | acceptor_gain | 1.0000 |
| 19:761620:TGTAG:T | acceptor_loss | 1.0000 |
| 19:761621:GTAGT:G | acceptor_loss | 1.0000 |
| 19:761622:TA:T | acceptor_loss | 1.0000 |
| 19:761623:A:AG | acceptor_gain | 1.0000 |
| 19:761623:AGTA:A | acceptor_loss | 1.0000 |
| 19:761623:AGTAC:A | acceptor_gain | 1.0000 |
| 19:761624:G:A | acceptor_loss | 1.0000 |
| 19:761624:G:GA | acceptor_gain | 1.0000 |
| 19:761624:GT:G | acceptor_gain | 1.0000 |
AlphaMissense
4383 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:757544:T:C | F200L | 0.990 |
| 19:757546:C:A | F200L | 0.990 |
| 19:757546:C:G | F200L | 0.990 |
| 19:757836:T:C | I297T | 0.988 |
| 19:757824:T:A | I293N | 0.986 |
| 19:757830:G:C | R295P | 0.986 |
| 19:763554:G:C | W668C | 0.986 |
| 19:763554:G:T | W668C | 0.986 |
| 19:757523:T:C | F193L | 0.983 |
| 19:757525:C:A | F193L | 0.983 |
| 19:757525:C:G | F193L | 0.983 |
| 19:757839:G:C | R298P | 0.978 |
| 19:757854:G:C | R303P | 0.978 |
| 19:757545:T:C | F200S | 0.976 |
| 19:757836:T:G | I297S | 0.976 |
| 19:757866:T:C | L307P | 0.973 |
| 19:763552:T:A | W668R | 0.971 |
| 19:763552:T:C | W668R | 0.971 |
| 19:757545:T:G | F200C | 0.969 |
| 19:757853:C:A | R303S | 0.968 |
| 19:758616:G:C | R557P | 0.968 |
| 19:757844:G:C | A300P | 0.966 |
| 19:757524:T:G | F193C | 0.963 |
| 19:757859:G:C | A305P | 0.963 |
| 19:757869:G:C | R308P | 0.963 |
| 19:757524:T:C | F193S | 0.962 |
| 19:757824:T:G | I293S | 0.959 |
| 19:757848:A:C | Q301P | 0.959 |
| 19:758666:T:C | F574L | 0.957 |
| 19:758668:C:A | F574L | 0.957 |
dbSNP variants (sampled 300 via entrez): RS1000340403 (19:753463 G>C), RS1000370787 (19:749415 G>A,C,T), RS1000590603 (19:748674 T>C), RS1000676447 (19:752424 T>C), RS1000677074 (19:757463 C>A), RS1001049191 (19:760121 T>G), RS1001106110 (19:748544 T>TC), RS1001127328 (19:756805 A>T), RS1001178613 (19:762195 A>C,G,T), RS1001232310 (19:751267 G>A), RS1001233224 (19:749511 G>A), RS1001567732 (19:756423 T>A,G), RS1001735713 (19:753359 G>A), RS1001786524 (19:757251 C>G), RS1001874673 (19:764042 A>C,G,T)
Disease associations
OMIM: gene MIM:615289 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295893 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs8110536 | MISP | 0.00 | 0 |
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 3 |
| perfluorooctanoic acid | increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| arsenite | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| perfluorohexanesulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | decreases response to substance | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Selenium | increases expression | 1 |
| Smoke | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | 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 |
|---|---|---|---|
| CHEMBL4118966 | Binding | Binding affinity to MISP in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1X4 | Abcam HeLa MISP KO | Cancer cell line | Female |
| CVCL_E2CF | HAP1 MISP (-) 2 | Cancer cell line | Male |
| CVCL_E2CG | HAP1 MISP (-) 3 | Cancer cell line | Male |
| CVCL_XQ56 | HAP1 MISP (-) 1 | Cancer cell line | Male |
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.