MTMR7
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Summary
MTMR7 (myotubularin related protein 7, HGNC:7454) is a protein-coding gene on chromosome 8p22, encoding Phosphatidylinositol-3-phosphate phosphatase MTMR7 (Q9Y216). Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3-bisphosphate (Ins(1,3)P2).
This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5.
Source: NCBI Gene 9108 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 151 total
- MANE Select transcript:
NM_004686
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7454 |
| Approved symbol | MTMR7 |
| Name | myotubularin related protein 7 |
| Location | 8p22 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000003987 |
| Ensembl biotype | protein_coding |
| OMIM | 603562 |
| Entrez | 9108 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 5 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000180173, ENST00000517317, ENST00000518272, ENST00000519122, ENST00000519590, ENST00000519763, ENST00000521177, ENST00000521857, ENST00000523571, ENST00000879805, ENST00000915631, ENST00000915632
RefSeq mRNA: 1 — MANE Select: NM_004686
NM_004686
CCDS: CCDS34851
Canonical transcript exons
ENST00000180173 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001146456 | 17313292 | 17313401 |
| ENSE00001307828 | 17302154 | 17302280 |
| ENSE00001490209 | 17361117 | 17361274 |
| ENSE00001490212 | 17371037 | 17371199 |
| ENSE00001490213 | 17373118 | 17373240 |
| ENSE00002112952 | 17296794 | 17300224 |
| ENSE00003478821 | 17331150 | 17331282 |
| ENSE00003489376 | 17304379 | 17304519 |
| ENSE00003603009 | 17341363 | 17341497 |
| ENSE00003605216 | 17309277 | 17309326 |
| ENSE00003606042 | 17311511 | 17311636 |
| ENSE00003641877 | 17305757 | 17305957 |
| ENSE00003669577 | 17348953 | 17349081 |
| ENSE00003850239 | 17413269 | 17413351 |
Expression profiles
Bgee: expression breadth ubiquitous, 180 present calls, max score 85.75.
FANTOM5 (CAGE): breadth broad, TPM avg 2.4078 / max 157.8898, expressed in 315 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91992 | 1.0278 | 224 |
| 91991 | 0.9432 | 246 |
| 91993 | 0.2800 | 71 |
| 91994 | 0.1568 | 57 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 85.75 | gold quality |
| cortical plate | UBERON:0005343 | 84.26 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 82.58 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 82.18 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.04 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.02 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 81.87 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.76 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.30 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 79.88 | gold quality |
| cerebellum | UBERON:0002037 | 79.53 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 78.56 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.34 | gold quality |
| spinal cord | UBERON:0002240 | 78.25 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.20 | gold quality |
| cingulate cortex | UBERON:0003027 | 77.70 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 77.53 | gold quality |
| frontal cortex | UBERON:0001870 | 76.54 | gold quality |
| neocortex | UBERON:0001950 | 76.29 | gold quality |
| nucleus accumbens | UBERON:0001882 | 76.08 | gold quality |
| adenohypophysis | UBERON:0002196 | 75.68 | gold quality |
| pituitary gland | UBERON:0000007 | 74.93 | gold quality |
| secondary oocyte | CL:0000655 | 74.65 | gold quality |
| caudate nucleus | UBERON:0001873 | 74.61 | gold quality |
| mucosa of stomach | UBERON:0001199 | 74.54 | gold quality |
| cerebral cortex | UBERON:0000956 | 74.40 | gold quality |
| calcaneal tendon | UBERON:0003701 | 73.92 | gold quality |
| amygdala | UBERON:0001876 | 73.90 | gold quality |
| telencephalon | UBERON:0001893 | 73.78 | gold quality |
| central nervous system | UBERON:0001017 | 73.71 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-83139 | yes | 8.02 |
| E-ANND-3 | no | 5.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
131 targeting MTMR7, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
Literature-anchored findings (GeneRIF, showing 2)
- The MTMR7 gene is linked to variant Creutzfeldt-Jakob risk in a genome-wide study. (PMID:22137330)
- MTMR7 has a role inhibiting insulin signaling in colorectal cancer (PMID:27409167)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mtmr7a | ENSDARG00000037101 |
| danio_rerio | mtmr7b | ENSDARG00000070412 |
| mus_musculus | Mtmr7 | ENSMUSG00000039431 |
| rattus_norvegicus | Mtmr7 | ENSRNOG00000011420 |
| drosophila_melanogaster | mtm | FBGN0025742 |
| drosophila_melanogaster | Sbf | FBGN0025802 |
| drosophila_melanogaster | Mtmr6 | FBGN0028497 |
| drosophila_melanogaster | CG14411 | FBGN0030582 |
| drosophila_melanogaster | CG3632 | FBGN0030735 |
| drosophila_melanogaster | CG5026 | FBGN0035945 |
| caenorhabditis_elegans | mtm-1 | WBGENE00003475 |
| caenorhabditis_elegans | WBGENE00003476 | |
| caenorhabditis_elegans | WBGENE00003477 | |
| caenorhabditis_elegans | WBGENE00003478 | |
| caenorhabditis_elegans | WBGENE00003479 | |
| caenorhabditis_elegans | mtm-10 | WBGENE00021683 |
Paralogs (13): MTMR11 (ENSG00000014914), MTMR1 (ENSG00000063601), MTMR2 (ENSG00000087053), SBF1 (ENSG00000100241), MTMR3 (ENSG00000100330), MTMR8 (ENSG00000102043), MTMR9 (ENSG00000104643), MTMR4 (ENSG00000108389), SBF2 (ENSG00000133812), MTMR6 (ENSG00000139505), MTMR12 (ENSG00000150712), MTMR10 (ENSG00000166912), MTM1 (ENSG00000171100)
Protein
Protein identifiers
Phosphatidylinositol-3-phosphate phosphatase MTMR7 — Q9Y216 (reviewed: Q9Y216)
Alternative names: Inositol 1,3-bisphosphate phosphatase, Myotubularin-related protein 7
All UniProt accessions (2): Q9Y216, E5RK11
UniProt curated annotations — full annotation on UniProt →
Function. Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3-bisphosphate (Ins(1,3)P2).
Subunit / interactions. Heterodimer (via C-terminus) with MTMR9 (via coiled coil domain); the interaction enhances MTMR7 catalytic activity. Does not homodimerize. Interacts with RAB1B (in GDP-bound form).
Subcellular location. Cytoplasm. Endomembrane system.
Tissue specificity. Expressed specifically in brain.
Activity regulation. Interaction with MTMR9 increases phosphatase activity.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y216-1 | 1 | yes |
| Q9Y216-2 | 2 |
RefSeq proteins (1): NP_004677* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR003595 | Tyr_Pase_cat | Domain |
| IPR010569 | Myotubularin-like_Pase_dom | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR016130 | Tyr_Pase_AS | Active_site |
| IPR029021 | Prot-tyrosine_phosphatase-like | Homologous_superfamily |
| IPR030564 | Myotubularin | Family |
| IPR030572 | MTMR7_PTP | Domain |
| IPR036003 | MTMR7_PH-GRAM | Domain |
| IPR048994 | PH-GRAM_MTMR6-9 | Domain |
Pfam: PF06602, PF21098
Catalyzed reactions (Rhea), 2 shown:
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate (RHEA:12316)
- 1D-myo-inositol 1,3-bisphosphate + H2O = 1D-myo-inositol 1-phosphate + phosphate (RHEA:57840)
UniProt features (26 total): binding site 10, sequence conflict 4, splice variant 2, sequence variant 2, compositionally biased region 2, chain 1, domain 1, modified residue 1, region of interest 1, coiled-coil region 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y216-F1 | 84.56 | 0.72 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 338 (phosphocysteine intermediate)
Ligand- & substrate-binding residues (10): 339; 340; 341; 342; 343; 344; 384; 250; 275; 276
Post-translational modifications (1): 578
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-1660517 | Synthesis of PIPs at the late endosome membrane |
| R-HSA-1855183 | Synthesis of IP2, IP, and Ins in the cytosol |
| R-HSA-1430728 | Metabolism |
| R-HSA-1483249 | Inositol phosphate metabolism |
| R-HSA-1483255 | PI Metabolism |
| R-HSA-1483257 | Phospholipid metabolism |
| R-HSA-556833 | Metabolism of lipids |
MSigDB gene sets: 153 (showing top):
GOBP_LIPID_MODIFICATION, BROWNE_HCMV_INFECTION_4HR_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GCM_GSPT1, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GCM_NUMA1, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_DEPHOSPHORYLATION
GO Biological Process (6): protein dephosphorylation (GO:0006470), phosphatidylinositol biosynthetic process (GO:0006661), phosphatidylinositol dephosphorylation (GO:0046856), lipid metabolic process (GO:0006629), dephosphorylation (GO:0016311), phosphatidylinositol metabolic process (GO:0046488)
GO Molecular Function (8): phosphatidylinositol-3-phosphate phosphatase activity (GO:0004438), protein tyrosine phosphatase activity (GO:0004725), inositol bisphosphate phosphatase activity (GO:0016312), phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629), phosphatidylinositol-3,5-bisphosphate phosphatase activity (GO:0106018), protein binding (GO:0005515), hydrolase activity (GO:0016787), phosphatidylinositol phosphate phosphatase activity (GO:0052866)
GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), endomembrane system (GO:0012505), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Metabolism | 2 |
| PI Metabolism | 1 |
| Inositol phosphate metabolism | 1 |
| Phospholipid metabolism | 1 |
| Metabolism of lipids | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| phosphatidylinositol metabolic process | 2 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| biosynthetic process | 1 |
| phospholipid dephosphorylation | 1 |
| primary metabolic process | 1 |
| phosphate-containing compound metabolic process | 1 |
| phosphorus metabolic process | 1 |
| phosphatidylinositol monophosphate phosphatase activity | 1 |
| phosphoprotein phosphatase activity | 1 |
| inositol phosphate phosphatase activity | 1 |
| phosphatidylinositol-3,5-bisphosphate phosphatase activity | 1 |
| phosphatidylinositol bisphosphate phosphatase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| phosphatase activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1001 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MTMR7 | FAM167A | Q96KS9 | 714 |
| MTMR7 | MTMR14 | Q8NCE2 | 629 |
| MTMR7 | PIK3C3 | Q8NEB9 | 490 |
| MTMR7 | ZMYM2 | Q9UBW7 | 423 |
| MTMR7 | MRPL35 | Q9NZE8 | 421 |
| MTMR7 | TPTE2 | Q6XPS3 | 410 |
| MTMR7 | TPTE | P56180 | 401 |
| MTMR7 | MAMLD1 | Q13495 | 390 |
| MTMR7 | OOSP1 | A8MZH6 | 386 |
| MTMR7 | SBF1 | O95248 | 380 |
| MTMR7 | ELP5 | Q8TE02 | 377 |
| MTMR7 | BEAN1 | Q3B7T3 | 343 |
| MTMR7 | FAM222A | Q5U5X8 | 342 |
| MTMR7 | SYNJ1 | O43426 | 339 |
| MTMR7 | SYNJ2 | O15056 | 336 |
| MTMR7 | CBLN3 | Q6UW01 | 336 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MTMR7 | MTMR9 | psi-mi:“MI:0915”(physical association) | 0.940 |
| MTMR9 | MTMR7 | psi-mi:“MI:0915”(physical association) | 0.940 |
| CCNH | MTMR7 | psi-mi:“MI:0915”(physical association) | 0.740 |
| MTMR7 | CCNH | psi-mi:“MI:0914”(association) | 0.740 |
| MTMR7 | MTMR9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MTMR9 | APOD | psi-mi:“MI:0914”(association) | 0.350 |
| MTMR7 | HNRNPC | psi-mi:“MI:0914”(association) | 0.350 |
| MTMR7 | STXBP3 | psi-mi:“MI:0914”(association) | 0.350 |
| MTMR9 | DSP | psi-mi:“MI:0914”(association) | 0.350 |
| MTMR7 | RALGAPA2 | psi-mi:“MI:0914”(association) | 0.350 |
| MTMR7 | CALML3 | psi-mi:“MI:0914”(association) | 0.350 |
| MTMR7 | MTMR9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MTMR7 | CCNH | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (93): MTMR9 (Two-hybrid), VIPAS39 (Affinity Capture-MS), CCNH (Affinity Capture-MS), MTMR9 (Affinity Capture-MS), STXBP3 (Affinity Capture-MS), VPS33B (Affinity Capture-MS), YEATS4 (Affinity Capture-MS), MTMR7 (Affinity Capture-MS), MTMR7 (Affinity Capture-MS), YEATS4 (Affinity Capture-MS), CYTH2 (Affinity Capture-MS), XRCC4 (Affinity Capture-MS), CAMSAP3 (Affinity Capture-MS), CDC42BPB (Affinity Capture-MS), CORO1B (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2JXT6, A0JMF6, A0JMK5, A2ALK8, A2BGG1, A6QLT4, A7MB43, G5ED68, O13819, O14830, P26045, P33402, P51432, Q09M05, Q13496, Q13613, Q15111, Q3USB7, Q4KWH5, Q4R6N0, Q4U2V3, Q52KU6, Q5EB32, Q5F452, Q5R6F6, Q5R9S3, Q5U581, Q62688, Q6AXQ4, Q6NU08, Q6TEL0, Q6XPS3, Q7TPM9, Q7ZXF1, Q8K394, Q8NCE2, Q8VE11, Q8VEL2, Q96EF0, Q96MI9
Diamond homologs: A0A0G2JXT6, A0JMK5, A2BGG1, A4FU01, A6QLT2, A6QLT4, A7MB43, E9PXF8, F4J3T8, F4JWB3, G5ED68, O13819, P47147, Q13496, Q13613, Q13614, Q13615, Q22712, Q2KJ24, Q3V1L6, Q52KU6, Q54GQ1, Q55E58, Q5EB32, Q5F452, Q5PQT2, Q5R6F6, Q5R9S3, Q5REB9, Q5U581, Q5ZIV1, Q6AXQ4, Q6NTN5, Q6NU08, Q6TEL0, Q7TPM9, Q7ZXF1, Q80TA6, Q8K296, Q8VE11
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
151 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 136 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3116 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:17302148:TCTTA:T | donor_loss | 1.0000 |
| 8:17302149:CTTAC:C | donor_loss | 1.0000 |
| 8:17302150:TTA:T | donor_loss | 1.0000 |
| 8:17302151:TA:T | donor_loss | 1.0000 |
| 8:17302152:A:AC | donor_gain | 1.0000 |
| 8:17302152:ACTT:A | donor_gain | 1.0000 |
| 8:17302153:C:CG | donor_gain | 1.0000 |
| 8:17302153:CTT:C | donor_gain | 1.0000 |
| 8:17302153:CTTC:C | donor_gain | 1.0000 |
| 8:17302155:T:TA | donor_gain | 1.0000 |
| 8:17302158:T:TA | donor_gain | 1.0000 |
| 8:17302176:T:TA | donor_gain | 1.0000 |
| 8:17302281:C:CC | acceptor_gain | 1.0000 |
| 8:17304377:A:AC | donor_gain | 1.0000 |
| 8:17304378:C:CC | donor_gain | 1.0000 |
| 8:17304421:C:A | donor_gain | 1.0000 |
| 8:17305750:CACTT:C | donor_loss | 1.0000 |
| 8:17305751:ACTT:A | donor_loss | 1.0000 |
| 8:17305753:TTACT:T | donor_loss | 1.0000 |
| 8:17305754:TAC:T | donor_loss | 1.0000 |
| 8:17305755:A:AC | donor_gain | 1.0000 |
| 8:17305755:ACTT:A | donor_loss | 1.0000 |
| 8:17305756:C:CG | donor_gain | 1.0000 |
| 8:17305756:CT:C | donor_gain | 1.0000 |
| 8:17305756:CTT:C | donor_gain | 1.0000 |
| 8:17305756:CTTG:C | donor_gain | 1.0000 |
| 8:17305756:CTTGA:C | donor_gain | 1.0000 |
| 8:17305953:CATAT:C | acceptor_gain | 1.0000 |
| 8:17305955:TAT:T | acceptor_gain | 1.0000 |
| 8:17305957:TC:T | acceptor_loss | 1.0000 |
AlphaMissense
4400 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:17309308:A:G | W374R | 1.000 |
| 8:17309308:A:T | W374R | 1.000 |
| 8:17311580:C:A | R344S | 1.000 |
| 8:17311580:C:G | R344S | 1.000 |
| 8:17311581:C:A | R344M | 1.000 |
| 8:17311581:C:G | R344T | 1.000 |
| 8:17311584:T:A | D343V | 1.000 |
| 8:17311584:T:G | D343A | 1.000 |
| 8:17311585:C:G | D343H | 1.000 |
| 8:17311588:A:G | W342R | 1.000 |
| 8:17311588:A:T | W342R | 1.000 |
| 8:17311590:C:A | G341V | 1.000 |
| 8:17311590:C:T | G341D | 1.000 |
| 8:17311591:C:A | G341C | 1.000 |
| 8:17311591:C:G | G341R | 1.000 |
| 8:17311593:T:A | D340V | 1.000 |
| 8:17311598:A:C | C338W | 1.000 |
| 8:17311600:A:G | C338R | 1.000 |
| 8:17313342:A:G | W309R | 1.000 |
| 8:17313342:A:T | W309R | 1.000 |
| 8:17331176:C:A | R280M | 1.000 |
| 8:17331186:G:C | H277D | 1.000 |
| 8:17331190:G:C | N275K | 1.000 |
| 8:17331190:G:T | N275K | 1.000 |
| 8:17331205:A:C | F270L | 1.000 |
| 8:17331205:A:T | F270L | 1.000 |
| 8:17331207:A:G | F270L | 1.000 |
| 8:17331248:C:T | G256D | 1.000 |
| 8:17331249:C:G | G256R | 1.000 |
| 8:17331260:G:T | A252D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000017661 (8:17409318 G>C), RS1000027250 (8:17363785 C>G,T), RS1000031599 (8:17302096 G>A), RS1000033426 (8:17307212 A>G), RS1000055281 (8:17323477 C>T), RS1000063887 (8:17333761 A>C), RS1000111900 (8:17399144 A>AG), RS1000170259 (8:17345690 C>A), RS1000181221 (8:17330884 A>G), RS1000202500 (8:17378546 G>A), RS1000210122 (8:17337119 C>A), RS1000224113 (8:17298960 A>C), RS1000256827 (8:17382244 C>A,G,T), RS1000277331 (8:17413626 C>G,T), RS1000280909 (8:17350647 C>T)
Disease associations
OMIM: gene MIM:603562 | 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 |
|---|---|---|
| GCST001334_5 | Creutzfeldt-Jakob disease (variant) | 2.000000e-08 |
| GCST004946_93 | Schizophrenia | 3.000000e-12 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| Methotrexate | decreases expression | 2 |
| bisphenol A | affects methylation, affects cotreatment, decreases methylation | 1 |
| trichostatin A | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Microplastics | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cycloheximide | increases expression, affects cotreatment | 1 |
| Phthalic Acids | affects methylation | 1 |
| Polystyrenes | increases expression, affects cotreatment, increases abundance | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SZ33 | HAP1 MTMR7 (-) 1 | Cancer cell line | Male |
| CVCL_SZ34 | HAP1 MTMR7 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Creutzfeldt Jacob disease