MPHOSPH6
gene geneOn this page
Also known as MPP6
Summary
MPHOSPH6 (M-phase phosphoprotein 6, HGNC:7214) is a protein-coding gene on chromosome 16q23.3, encoding M-phase phosphoprotein 6 (Q99547). RNA-binding protein that associates with the RNA exosome complex.
Predicted to enable RNA binding activity. Involved in maturation of 5.8S rRNA. Located in cytosol and nuclear lumen.
Source: NCBI Gene 10200 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 41 total
- Druggable target: yes
- MANE Select transcript:
NM_005792
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7214 |
| Approved symbol | MPHOSPH6 |
| Name | M-phase phosphoprotein 6 |
| Location | 16q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MPP6 |
| Ensembl gene | ENSG00000135698 |
| Ensembl biotype | protein_coding |
| OMIM | 605500 |
| Entrez | 10200 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000258169, ENST00000563100, ENST00000563504, ENST00000566748, ENST00000567729, ENST00000568016, ENST00000569021, ENST00000569599, ENST00000880962, ENST00000931758, ENST00000931759, ENST00000953188
RefSeq mRNA: 1 — MANE Select: NM_005792
NM_005792
CCDS: CCDS10937
Canonical transcript exons
ENST00000258169 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000920946 | 82170125 | 82170224 |
| ENSE00000920948 | 82151424 | 82151514 |
| ENSE00000920949 | 82149309 | 82149403 |
| ENSE00001314521 | 82148162 | 82148863 |
| ENSE00003484650 | 82164082 | 82164194 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 96.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.4191 / max 1240.9486, expressed in 1804 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158298 | 34.0252 | 1804 |
| 158299 | 0.3939 | 199 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 96.12 | gold quality |
| secondary oocyte | CL:0000655 | 95.06 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.88 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.75 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.24 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.24 | gold quality |
| gingiva | UBERON:0001828 | 93.60 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.54 | gold quality |
| squamous epithelium | UBERON:0006914 | 93.35 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.23 | silver quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.64 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.43 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.35 | gold quality |
| rectum | UBERON:0001052 | 92.34 | gold quality |
| mammalian vulva | UBERON:0000997 | 92.28 | gold quality |
| hair follicle | UBERON:0002073 | 92.19 | gold quality |
| tonsil | UBERON:0002372 | 92.14 | gold quality |
| mouth mucosa | UBERON:0003729 | 92.11 | gold quality |
| body of uterus | UBERON:0009853 | 92.10 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.04 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 92.01 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.98 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.95 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.94 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.81 | gold quality |
| monocyte | CL:0000576 | 91.76 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.75 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 91.66 | gold quality |
| skin of leg | UBERON:0001511 | 91.65 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.64 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting MPHOSPH6, 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
| HSA-MIR-297 | 99.40 | 69.58 | 1418 |
| HSA-MIR-145-3P | 99.33 | 67.66 | 764 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-10399-5P | 99.17 | 69.87 | 2610 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
| HSA-MIR-5190 | 99.15 | 67.76 | 1234 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-16-1-3P | 98.70 | 69.23 | 1538 |
| HSA-MIR-1265 | 98.36 | 66.46 | 598 |
| HSA-MIR-3661 | 97.83 | 67.30 | 705 |
| HSA-MIR-6728-5P | 97.79 | 66.33 | 891 |
| HSA-MIR-526B-5P | 97.41 | 67.99 | 1074 |
| HSA-MIR-3173-5P | 97.35 | 65.82 | 1282 |
| HSA-MIR-6799-3P | 97.35 | 65.60 | 1302 |
| HSA-MIR-216B-5P | 97.16 | 66.76 | 1126 |
| HSA-MIR-631 | 97.05 | 66.93 | 602 |
| HSA-MIR-3674 | 97.01 | 68.86 | 1171 |
| HSA-MIR-6777-3P | 95.35 | 64.30 | 699 |
Literature-anchored findings (GeneRIF, showing 2)
- MPP6 was found to be associated with the exosome, a multiprotein complex involved in RNA degradation. (PMID:11719186)
- MPP6 is a nucleolus-specific exosome co-factor required for its role in the maturation of 5.8S rRNA. (PMID:16396833)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mphosph6 | ENSDARG00000093007 |
| mus_musculus | Mphosph6 | ENSMUSG00000031843 |
| rattus_norvegicus | LOC134479438 | ENSRNOG00000038335 |
| rattus_norvegicus | Mphosph6 | ENSRNOG00000050087 |
| caenorhabditis_elegans | WBGENE00017916 |
Protein
Protein identifiers
M-phase phosphoprotein 6 — Q99547 (reviewed: Q99547)
All UniProt accessions (5): Q99547, H3BNK8, H3BNT4, H3BSB3, H3BU96
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein that associates with the RNA exosome complex. Involved in the 3’-processing of the 7S pre-RNA to the mature 5.8S rRNA and play a role in recruiting the RNA exosome complex to pre-rRNA; this function may include C1D.
Subunit / interactions. Associates with the RNA exosome complex, mediated by EXOSC3. Interacts with ARHGAP18. Interacts with exosome cofactors EXOSC10 and MTREX.
Subcellular location. Nucleus. Nucleolus. Cytoplasm.
Post-translational modifications. Phosphorylated in M (mitotic) phase.
Similarity. Belongs to the MPP6 family.
RefSeq proteins (1): NP_005783* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019324 | MPP6 | Family |
Pfam: PF10175
UniProt features (18 total): cross-link 5, helix 4, strand 2, modified residue 2, chain 1, short sequence motif 1, sequence conflict 1, turn 1, sequence variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6D6Q | ELECTRON MICROSCOPY | 3.45 |
| 6D6R | ELECTRON MICROSCOPY | 3.45 |
| 6H25 | ELECTRON MICROSCOPY | 3.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99547-F1 | 76.57 | 0.08 |
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 (7): 110, 147, 37, 86, 127, 150, 153
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-9930044 | Nuclear RNA decay |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 170 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_RIBOSOME_BIOGENESIS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, GENTILE_UV_HIGH_DOSE_DN, GENTILE_UV_RESPONSE_CLUSTER_D5, TIEN_INTESTINE_PROBIOTICS_24HR_UP, MODULE_98, MULLIGHAN_NPM1_SIGNATURE_3_DN, GRUETZMANN_PANCREATIC_CANCER_UP, GOBP_MATURATION_OF_5_8S_RRNA, DANG_BOUND_BY_MYC
GO Biological Process (2): maturation of 5.8S rRNA (GO:0000460), rRNA processing (GO:0006364)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (7): exosome (RNase complex) (GO:0000178), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), nuclear exosome (RNase complex) (GO:0000176), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 2 |
| rRNA processing in the nucleus and cytosol | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 3 |
| cellular anatomical structure | 3 |
| intracellular anatomical structure | 2 |
| rRNA processing | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| exoribonuclease complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| exosome (RNase complex) | 1 |
| nucleus | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1216 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MPHOSPH6 | EXOSC1 | Q9Y3B2 | 874 |
| MPHOSPH6 | EXOSC5 | Q9NQT4 | 773 |
| MPHOSPH6 | EXOSC3 | Q9NQT5 | 762 |
| MPHOSPH6 | EXOSC7 | Q15024 | 758 |
| MPHOSPH6 | C1D | Q13901 | 743 |
| MPHOSPH6 | EXOSC6 | Q5RKV6 | 743 |
| MPHOSPH6 | EXOSC8 | Q96B26 | 723 |
| MPHOSPH6 | MTREX | P42285 | 708 |
| MPHOSPH6 | EXOSC4 | Q9NPD3 | 692 |
| MPHOSPH6 | EXOSC10 | Q01780 | 615 |
| MPHOSPH6 | ZNF208 | O43345 | 590 |
| MPHOSPH6 | EXOSC2 | Q13868 | 539 |
| MPHOSPH6 | GPATCH1 | Q9BRR8 | 483 |
| MPHOSPH6 | RPL3L | Q92901 | 483 |
| MPHOSPH6 | ACYP2 | P14621 | 480 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EXOSC2 | EXOSC10 | psi-mi:“MI:0914”(association) | 0.840 |
| EXOSC4 | EXOSC10 | psi-mi:“MI:0914”(association) | 0.840 |
| MPHOSPH6 | EXOSC10 | psi-mi:“MI:0407”(direct interaction) | 0.810 |
| EXOSC10 | MPHOSPH6 | psi-mi:“MI:0915”(physical association) | 0.810 |
| EXOSC1 | EXOSC10 | psi-mi:“MI:0914”(association) | 0.810 |
| EXOSC3 | EXOSC10 | psi-mi:“MI:0914”(association) | 0.790 |
| EXOSC2 | MPHOSPH6 | psi-mi:“MI:0915”(physical association) | 0.770 |
| C1D | EXOSC10 | psi-mi:“MI:0915”(physical association) | 0.730 |
| MTREX | MPHOSPH6 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| MPHOSPH6 | MTREX | psi-mi:“MI:0914”(association) | 0.690 |
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC3 | MTREX | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC5 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| APP | MPHOSPH6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXOSC7 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOSC4 | MTREX | psi-mi:“MI:0914”(association) | 0.530 |
| EXOSC2 | MTREX | psi-mi:“MI:0914”(association) | 0.530 |
| MPHOSPH6 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| RAC1 | MPHOSPH6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUPR1 | MPHOSPH6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSPB1 | MPHOSPH6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| EXOSC8 | PXN | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (163): MPHOSPH6 (Two-hybrid), MPHOSPH6 (Affinity Capture-MS), MPHOSPH6 (Affinity Capture-MS), MPHOSPH6 (Affinity Capture-MS), MPHOSPH6 (Two-hybrid), EXOSC10 (Co-fractionation), EXOSC2 (Co-fractionation), EXOSC3 (Co-fractionation), EXOSC4 (Co-fractionation), EXOSC6 (Co-fractionation), MPHOSPH6 (Co-fractionation), MPHOSPH6 (Co-fractionation), MPHOSPH6 (Co-fractionation), MPHOSPH6 (Co-fractionation), MPHOSPH6 (Co-fractionation)
ESM2 similar proteins: A2AQ19, B5XE27, O00193, O43768, O88271, P60840, P60841, P68210, P68211, Q0IIX4, Q28GU6, Q3MHJ0, Q3MHL8, Q3T062, Q4ADK4, Q4ADK7, Q5M947, Q5RAD5, Q5RD18, Q5RKH3, Q5U2T8, Q5ZIF8, Q5ZIH9, Q5ZJ97, Q6DDU5, Q6DEB4, Q6GQG3, Q6NVR1, Q6PII3, Q75QI0, Q75UQ2, Q7TN31, Q7ZVC9, Q7ZXH9, Q8HXY9, Q8K039, Q8NDD1, Q90368, Q91WE2, Q92541
Diamond homologs: Q99547, Q9D1Q1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 51 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 |
|---|---|---|---|
| KSRP (KHSRP) binds and destabilizes mRNA | 8 | 141.0× | 3e-14 |
| mRNA decay by 3’ to 5’ exoribonuclease | 7 | 138.8× | 1e-12 |
| Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA | 7 | 123.4× | 3e-12 |
| Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA | 7 | 123.4× | 3e-12 |
| Nuclear RNA decay | 11 | 94.3× | 1e-17 |
| ATF4 activates genes in response to endoplasmic reticulum stress | 8 | 90.6× | 1e-12 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 12 | 20.6× | 9e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| RNA catabolic process | 9 | 85.4× | 4e-13 |
| RNA processing | 9 | 41.0× | 1e-10 |
| rRNA processing | 9 | 26.6× | 3e-09 |
| endocytosis | 6 | 11.9× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
41 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1261 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:82164080:A:AC | donor_gain | 1.0000 |
| 16:82164081:C:CC | donor_gain | 1.0000 |
| 16:82164081:CT:C | donor_gain | 1.0000 |
| 16:82164195:C:CC | acceptor_gain | 1.0000 |
| 16:82149209:C:CA | donor_gain | 0.9900 |
| 16:82149303:GGTTA:G | donor_loss | 0.9900 |
| 16:82149304:GTTAC:G | donor_loss | 0.9900 |
| 16:82149305:TTA:T | donor_loss | 0.9900 |
| 16:82149306:TAC:T | donor_loss | 0.9900 |
| 16:82149307:ACC:A | donor_loss | 0.9900 |
| 16:82149308:C:A | donor_loss | 0.9900 |
| 16:82156115:C:CT | acceptor_gain | 0.9900 |
| 16:82164190:ATAAA:A | acceptor_gain | 0.9900 |
| 16:82164191:TAAA:T | acceptor_gain | 0.9900 |
| 16:82164192:AAA:A | acceptor_gain | 0.9900 |
| 16:82164193:AAC:A | acceptor_loss | 0.9900 |
| 16:82164194:AC:A | acceptor_loss | 0.9900 |
| 16:82164196:T:C | acceptor_loss | 0.9900 |
| 16:82148859:CATAT:C | acceptor_gain | 0.9800 |
| 16:82148861:TATC:T | acceptor_loss | 0.9800 |
| 16:82148863:TC:T | acceptor_loss | 0.9800 |
| 16:82148864:C:CC | acceptor_gain | 0.9800 |
| 16:82148864:CTGT:C | acceptor_loss | 0.9800 |
| 16:82148865:T:G | acceptor_loss | 0.9800 |
| 16:82149401:TTT:T | acceptor_gain | 0.9800 |
| 16:82149404:C:CC | acceptor_gain | 0.9800 |
| 16:82151512:CTC:C | acceptor_gain | 0.9800 |
| 16:82164080:ACT:A | donor_gain | 0.9800 |
| 16:82164081:CTC:C | donor_gain | 0.9800 |
| 16:82164193:AA:A | acceptor_gain | 0.9800 |
AlphaMissense
1074 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:82164192:A:C | F18L | 0.999 |
| 16:82164192:A:T | F18L | 0.999 |
| 16:82164194:A:G | F18L | 0.999 |
| 16:82170128:C:A | M16I | 0.998 |
| 16:82170128:C:G | M16I | 0.998 |
| 16:82170128:C:T | M16I | 0.998 |
| 16:82164189:C:A | M19I | 0.997 |
| 16:82164189:C:G | M19I | 0.997 |
| 16:82164189:C:T | M19I | 0.997 |
| 16:82170129:A:G | M16T | 0.997 |
| 16:82164190:A:G | M19T | 0.996 |
| 16:82164193:A:G | F18S | 0.996 |
| 16:82151457:T:A | R74S | 0.995 |
| 16:82151457:T:G | R74S | 0.995 |
| 16:82151448:G:C | F77L | 0.993 |
| 16:82151448:G:T | F77L | 0.993 |
| 16:82151450:A:G | F77L | 0.993 |
| 16:82151458:C:G | R74T | 0.992 |
| 16:82164193:A:C | F18C | 0.992 |
| 16:82149316:C:G | A115P | 0.990 |
| 16:82170125:C:A | K17N | 0.987 |
| 16:82170125:C:G | K17N | 0.987 |
| 16:82164116:A:G | W44R | 0.986 |
| 16:82164116:A:T | W44R | 0.986 |
| 16:82170147:G:A | S10F | 0.985 |
| 16:82151458:C:A | R74I | 0.984 |
| 16:82151439:A:C | F80L | 0.983 |
| 16:82151439:A:T | F80L | 0.983 |
| 16:82151441:A:G | F80L | 0.983 |
| 16:82164183:C:A | R21S | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000014971 (16:82147810 C>T), RS1000137562 (16:82171131 G>C), RS1000154408 (16:82170898 C>A,G), RS1000238830 (16:82156968 G>A), RS1000247053 (16:82167381 T>C,G), RS1000515442 (16:82151890 G>A), RS1000582812 (16:82168119 G>A,C), RS1000769292 (16:82167546 G>A,T), RS1000883144 (16:82164614 G>A), RS1001121455 (16:82156460 T>C,G), RS1001169319 (16:82155888 G>C,T), RS1001169810 (16:82164413 T>C), RS1001240691 (16:82149427 C>G), RS1001406002 (16:82156154 G>C), RS1001508474 (16:82165766 G>C)
Disease associations
OMIM: gene MIM:605500 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_155 | Obesity-related traits | 1.000000e-06 |
| GCST001762_381 | Obesity-related traits | 9.000000e-06 |
| GCST001762_383 | Obesity-related traits | 3.000000e-06 |
| GCST001762_460 | Obesity-related traits | 5.000000e-06 |
| GCST001762_545 | Obesity-related traits | 4.000000e-07 |
| GCST001762_632 | Obesity-related traits | 1.000000e-07 |
| GCST001762_680 | Obesity-related traits | 9.000000e-07 |
| GCST002828_28 | Urate levels in obese individuals | 1.000000e-06 |
| GCST004744_25 | Lung adenocarcinoma | 6.000000e-06 |
| GCST006803_36 | Schizophrenia | 2.000000e-08 |
| GCST007102_11 | Seasonality and depression | 6.000000e-06 |
| GCST008103_37 | Bipolar disorder | 9.000000e-08 |
| GCST008366_12 | Leukocyte telomere length | 7.000000e-06 |
| GCST008366_21 | Leukocyte telomere length | 1.000000e-11 |
| GCST008504_7 | Fasting glucose change (long-term) | 4.000000e-06 |
| GCST008595_183 | Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) | 4.000000e-11 |
| GCST009856_10 | Leukocyte telomere length | 7.000000e-10 |
| GCST010303_60 | Nevus count or cutaneous melanoma | 2.000000e-09 |
| GCST012465_40 | Bipolar disorder | 3.000000e-09 |
| GCST012489_139 | Heel bone mineral density x serum urate levels interaction | 2.000000e-08 |
| GCST90000014_7 | Parkinson’s disease motor subtype (tremor dominant vs postural instability/gait difficulty) | 7.000000e-06 |
| GCST90000025_331 | Appendicular lean mass | 1.000000e-10 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004338 | body weight |
| EFO:0004340 | body mass index |
| EFO:0005109 | energy expenditure |
| EFO:0004531 | urate measurement |
| EFO:0006876 | seasonality measurement |
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
| EFO:0004632 | nevus count |
| EFO:0009270 | heel bone mineral density |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066427 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.14 | Kd | 7.206 | nM | CHEMBL5653589 |
| 8.14 | ED50 | 7.206 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148765: Binding affinity to human MPHOSPH6 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0072 | uM |
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Methotrexate | decreases expression, affects response to substance | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| lead acetate | increases expression | 1 |
| methylparaben | decreases expression | 1 |
| sulforaphane | increases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Curcumin | decreases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Silicon Dioxide | 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 |
|---|---|---|---|
| CHEMBL5651807 | Binding | Binding affinity to human MPHOSPH6 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9KM | Ubigene HEK293 MPHOSPH6 KO | Transformed cell line | Female |
| CVCL_E0IC | Ubigene HeLa MPHOSPH6 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.