NME6
gene geneOn this page
Also known as NM23-H6IPIA-ALPHA
Summary
NME6 (NME/NM23 nucleoside diphosphate kinase 6, HGNC:20567) is a protein-coding gene on chromosome 3p21.31, encoding Nucleoside diphosphate kinase 6, mitochondrial (O75414). Catalytic subunit of a complex with RCC1L, which catalyzes the transfer of a gamma-phosphoryl group from a nucleoside triphosphate, mainly ATP, to a nucleoside diphosphate via a ping-pong mechanism involving the formation of a phosphohistidine intermediate. It is a selective cancer dependency (DepMap: 10.7% of cell lines).
Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).
Source: NCBI Gene 10201 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 43 total
- Cancer dependency (DepMap): dependent in 10.7% of screened cell lines
- MANE Select transcript:
NM_001308426
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20567 |
| Approved symbol | NME6 |
| Name | NME/NM23 nucleoside diphosphate kinase 6 |
| Location | 3p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NM23-H6, IPIA-ALPHA |
| Ensembl gene | ENSG00000172113 |
| Ensembl biotype | protein_coding |
| OMIM | 608294 |
| Entrez | 10201 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 30 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000302378, ENST00000415053, ENST00000415644, ENST00000418431, ENST00000421967, ENST00000425930, ENST00000426689, ENST00000435684, ENST00000442597, ENST00000444069, ENST00000447314, ENST00000447724, ENST00000451657, ENST00000452211, ENST00000454531, ENST00000456495, ENST00000484959, ENST00000494209, ENST00000495734, ENST00000642710, ENST00000643011, ENST00000643457, ENST00000885416, ENST00000885417, ENST00000885418, ENST00000885419, ENST00000885420, ENST00000885421, ENST00000885422, ENST00000885423, ENST00000926844, ENST00000926845, ENST00000926846, ENST00000943101, ENST00000943102, ENST00000943103
RefSeq mRNA: 9 — MANE Select: NM_001308426
NM_001308426, NM_001308427, NM_001308428, NM_001308430, NM_001308431, NM_001308433, NM_001308434, NM_001308435, NM_005793
CCDS: CCDS2763, CCDS77733, CCDS77734, CCDS82767, CCDS82768
Canonical transcript exons
ENST00000442597 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001171664 | 48296119 | 48296158 |
| ENSE00001637596 | 48292317 | 48294803 |
| ENSE00001766952 | 48301353 | 48301367 |
| ENSE00003494090 | 48295075 | 48295235 |
| ENSE00003548624 | 48296727 | 48296829 |
| ENSE00003556954 | 48298427 | 48298523 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 88.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.5682 / max 47.4131, expressed in 1775 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42101 | 7.2620 | 1768 |
| 42102 | 0.3062 | 117 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.96 | gold quality |
| ventricular zone | UBERON:0003053 | 87.50 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 86.64 | gold quality |
| right uterine tube | UBERON:0001302 | 86.14 | gold quality |
| monocyte | CL:0000576 | 85.95 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.89 | gold quality |
| granulocyte | CL:0000094 | 85.40 | gold quality |
| leukocyte | CL:0000738 | 85.39 | gold quality |
| rectum | UBERON:0001052 | 85.37 | gold quality |
| mononuclear cell | CL:0000842 | 85.31 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.14 | gold quality |
| muscle of leg | UBERON:0001383 | 84.81 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.72 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.59 | gold quality |
| right ovary | UBERON:0002118 | 84.38 | gold quality |
| left ovary | UBERON:0002119 | 84.25 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.18 | gold quality |
| colonic epithelium | UBERON:0000397 | 84.17 | gold quality |
| body of pancreas | UBERON:0001150 | 84.15 | gold quality |
| ectocervix | UBERON:0012249 | 84.13 | gold quality |
| metanephros cortex | UBERON:0010533 | 83.95 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.93 | gold quality |
| apex of heart | UBERON:0002098 | 83.77 | gold quality |
| cortical plate | UBERON:0005343 | 83.73 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 83.59 | gold quality |
| cerebellar cortex | UBERON:0002129 | 83.51 | gold quality |
| gall bladder | UBERON:0002110 | 83.42 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 83.41 | gold quality |
| body of uterus | UBERON:0009853 | 83.32 | gold quality |
| body of stomach | UBERON:0001161 | 83.12 | 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)
96 targeting NME6, 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-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 10.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- It was suggested that rs1076394 served as an expression Quantitative Trait Loci (eQTL) for gene CCDC12 and NME6, while NME6’s expression was obviously higher in colorectal cancer tissues. (PMID:27120998)
- Mitochondrial NME6 Influences Basic Cellular Processes in Tumor Cells In Vitro. (PMID:39273527)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nme6 | ENSDARG00000016138 |
| mus_musculus | Nme6 | ENSMUSG00000032478 |
| rattus_norvegicus | Nme6 | ENSRNOG00000020721 |
| drosophila_melanogaster | nmdyn-D6 | FBGN0030573 |
Paralogs (8): NME8 (ENSG00000086288), NME3 (ENSG00000103024), NME4 (ENSG00000103202), NME5 (ENSG00000112981), NME7 (ENSG00000143156), NME9 (ENSG00000181322), NME1 (ENSG00000239672), NME2 (ENSG00000243678)
Protein
Protein identifiers
Nucleoside diphosphate kinase 6, mitochondrial — O75414 (reviewed: O75414)
Alternative names: Inhibitor of p53-induced apoptosis-alpha, nm23-H6
All UniProt accessions (9): O75414, A0A0C4DG91, A0A2R8Y547, A0A2R8Y7V2, C9J1J2, C9J867, C9J9V6, C9JQB1, F2Z2J2
UniProt curated annotations — full annotation on UniProt →
Function. Catalytic subunit of a complex with RCC1L, which catalyzes the transfer of a gamma-phosphoryl group from a nucleoside triphosphate, mainly ATP, to a nucleoside diphosphate via a ping-pong mechanism involving the formation of a phosphohistidine intermediate. Participates in the regulation of mitochondrial nucleotide levels, mitoribosome biogenesis, and mitochondrial RNA abundances. Supplies pyrimidine ribonucleoside triphosphates (rNTPs) for mitochondrial transcription and is required for the maintenance of mitochondrial DNA (mtDNA) when the import of pyrimidine deoxyribonucleoside triphosphates (dNTPs) is limited from the cytosol is limited. As a monomer, lacks nucleoside diphosphate kinase (NDPK) activity.
Subunit / interactions. Monomer; lacks nucleoside diphosphate kinase (NDPK) activity. Interacts with RCC1L; this interaction mediates activation of nucleoside diphosphate kinase activity.
Subcellular location. Mitochondrion matrix. Mitochondrion inner membrane. Mitochondrion.
Tissue specificity. Highly expressed in the heart, placenta, skeletal muscles, kidney, prostate, ovary, intestine, and spleen. Also expressed in various cell lines and the expression levels differed among cell lines.
Similarity. Belongs to the NDK family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75414-1 | 1 | yes |
| O75414-2 | 2 | |
| O75414-3 | 3 | |
| O75414-4 | 4 |
RefSeq proteins (9): NP_001295355, NP_001295356, NP_001295357, NP_001295359, NP_001295360, NP_001295362, NP_001295363, NP_001295364, NP_005784 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001564 | Nucleoside_diP_kinase | Family |
| IPR023005 | Nucleoside_diP_kinase_AS | Active_site |
| IPR034907 | NDK-like_dom | Domain |
| IPR036850 | NDK-like_dom_sf | Homologous_superfamily |
| IPR037994 | NDPk6 | Family |
Pfam: PF00334
Catalyzed reactions (Rhea), 4 shown:
- a ribonucleoside 5’-diphosphate + ATP = a ribonucleoside 5’-triphosphate + ADP (RHEA:18113)
- UDP + ATP = UTP + ADP (RHEA:25098)
- CDP + ATP = CTP + ADP (RHEA:25237)
- a 2’-deoxyribonucleoside 5’-diphosphate + ATP = a 2’-deoxyribonucleoside 5’-triphosphate + ADP (RHEA:44640)
UniProt features (15 total): binding site 6, splice variant 3, mutagenesis site 2, chain 1, domain 1, sequence conflict 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75414-F1 | 93.86 | 0.90 |
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): 129 (pros-phosphohistidine intermediate)
Ligand- & substrate-binding residues (6): 19; 68; 96; 102; 116; 126
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 129 | loss interaction with rccl1. loss of phosphorylation. loss of nucleoside diphosphate kinase activity. |
| 129 | affects mitochondrial dna level. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-499943 | Interconversion of nucleotide di- and triphosphates |
MSigDB gene sets: 200 (showing top):
GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GOBP_GROWTH, GOBP_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS, GOBP_ORGANELLE_FISSION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE
GO Biological Process (8): GTP biosynthetic process (GO:0006183), UTP biosynthetic process (GO:0006228), CTP biosynthetic process (GO:0006241), apoptotic process (GO:0006915), nucleotide metabolic process (GO:0009117), pyrimidine ribonucleotide salvage (GO:0010138), negative regulation of cell growth (GO:0030308), negative regulation of mitotic nuclear division (GO:0045839)
GO Molecular Function (7): nucleoside diphosphate kinase activity (GO:0004550), ATP binding (GO:0005524), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of nucleotides | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| pyrimidine ribonucleotide biosynthetic process | 3 |
| pyrimidine ribonucleoside triphosphate biosynthetic process | 2 |
| purine ribonucleotide biosynthetic process | 1 |
| purine ribonucleoside triphosphate biosynthetic process | 1 |
| GTP metabolic process | 1 |
| UTP metabolic process | 1 |
| CTP metabolic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| nucleoside phosphate metabolic process | 1 |
| pyrimidine nucleotide salvage | 1 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| negative regulation of growth | 1 |
| negative regulation of cellular process | 1 |
| regulation of mitotic nuclear division | 1 |
| negative regulation of cell cycle process | 1 |
| negative regulation of mitotic cell cycle | 1 |
| negative regulation of nuclear division | 1 |
| mitotic nuclear division | 1 |
| phosphotransferase activity, phosphate group as acceptor | 1 |
| nucleobase-containing compound kinase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
5464 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NME6 | RP2 | O75695 | 620 |
| NME6 | NT5M | Q9NPB1 | 490 |
| NME6 | A0A087WWV3 | A0A087WWV3 | 479 |
| NME6 | OSBPL11 | Q9BXB4 | 461 |
| NME6 | NT5C1B | Q96P26 | 461 |
| NME6 | RABGGTB | P53611 | 458 |
| NME6 | POLR2E | P19388 | 458 |
| NME6 | TBCK | Q8TEA7 | 454 |
| NME6 | DTYMK | P23919 | 453 |
| NME6 | NIPAL2 | Q9H841 | 439 |
| NME6 | GART | P22102 | 436 |
| NME6 | WDR47 | O94967 | 435 |
| NME6 | AK9 | Q5TCS8 | 426 |
| NME6 | NT5C1A | Q9BXI3 | 409 |
| NME6 | UQCRC1 | P31930 | 404 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DBF4 | CDC7 | psi-mi:“MI:0914”(association) | 0.890 |
| RCC1L | NME6 | psi-mi:“MI:0914”(association) | 0.720 |
| RCC1L | NME6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NME6 | RCC1L | psi-mi:“MI:0915”(physical association) | 0.720 |
| NME6 | E6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NME6 | ZNRD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MRPL12 | psi-mi:“MI:0914”(association) | 0.350 | |
| DHH | NME6 | psi-mi:“MI:0914”(association) | 0.350 |
| NOCT | NME6 | psi-mi:“MI:0914”(association) | 0.350 |
| TRUB2 | NME6 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ2 | NME6 | psi-mi:“MI:0914”(association) | 0.350 |
| HOGA1 | NME6 | psi-mi:“MI:0914”(association) | 0.350 |
| UQCRFS1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| NME6 | HSPD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CLIC5 | NME6 | psi-mi:“MI:0914”(association) | 0.350 |
| FECH | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| PTP4A1 | NME6 | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | UBA6 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (30): NME6 (Affinity Capture-MS), NME6 (Affinity Capture-MS), NME6 (Affinity Capture-MS), NME6 (Affinity Capture-MS), NME6 (Affinity Capture-MS), NME6 (Affinity Capture-MS), NME6 (Affinity Capture-MS), NME6 (Affinity Capture-MS), ATP5O (Two-hybrid), NME6 (Affinity Capture-RNA), NME6 (Proximity Label-MS), WBSCR16 (Affinity Capture-MS), BCS1L (Affinity Capture-MS), HSPD1 (Affinity Capture-MS), NME6 (Affinity Capture-MS)
ESM2 similar proteins: A2ARP1, A2VD68, A7T167, A7Z050, B3DL53, B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4KA23, B4LVS8, B4NKI9, B4PVH6, B4QVW6, O00746, O35552, O54820, O60361, O75414, O88425, O88426, P0C644, P34093, P56597, P78820, P87355, Q16875, Q1JQ92, Q29B63, Q5R9C1, Q66KP0, Q6DGQ8, Q6DI51, Q6NLG3, Q6PFW1, Q715S9, Q715T0, Q7JUX9, Q8N427, Q91YL3
Diamond homologs: A0A1L1SUL6, A1V4K4, A2S299, A3M207, A3MK78, A3NA57, A3NVX4, A4F9J8, A4G4J8, A4XY36, A5F3F7, A5IC43, A5UDJ8, A5UI22, A6Q200, A6SZX4, A6V0V6, A6VMK7, A7I3D2, A7MU38, A8ERJ2, A9HJV3, A9IK55, B0RT49, B0USF1, B0V4U1, B0VKS3, B2FNQ5, B2I3E1, B2SXT3, B3E3P0, B3PDL7, B4SSW2, B5FAW8, B7H073, B7I5G3, B7UWI4, B7VJT4, B8IZ74, B9MFX2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
574 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:48295070:CTCA:C | donor_loss | 1.0000 |
| 3:48295071:TCA:T | donor_loss | 1.0000 |
| 3:48295073:A:AC | donor_gain | 1.0000 |
| 3:48295073:A:T | donor_loss | 1.0000 |
| 3:48295073:AC:A | donor_gain | 1.0000 |
| 3:48295074:C:CA | donor_loss | 1.0000 |
| 3:48295074:C:CC | donor_gain | 1.0000 |
| 3:48295074:CC:C | donor_gain | 1.0000 |
| 3:48295074:CCCGA:C | donor_gain | 1.0000 |
| 3:48295231:GCCCG:G | acceptor_gain | 1.0000 |
| 3:48295232:CCCG:C | acceptor_gain | 1.0000 |
| 3:48295232:CCCGC:C | acceptor_gain | 1.0000 |
| 3:48295233:CCG:C | acceptor_gain | 1.0000 |
| 3:48295233:CCGC:C | acceptor_gain | 1.0000 |
| 3:48295234:CG:C | acceptor_gain | 1.0000 |
| 3:48295234:CGC:C | acceptor_gain | 1.0000 |
| 3:48295236:C:CC | acceptor_gain | 1.0000 |
| 3:48295236:CT:C | acceptor_loss | 1.0000 |
| 3:48295238:G:C | acceptor_gain | 1.0000 |
| 3:48295238:G:GC | acceptor_gain | 1.0000 |
| 3:48295243:C:CT | acceptor_gain | 1.0000 |
| 3:48295244:A:T | acceptor_gain | 1.0000 |
| 3:48295068:GACTC:G | donor_loss | 0.9900 |
| 3:48295069:ACTCA:A | donor_loss | 0.9900 |
| 3:48295074:CCCG:C | donor_gain | 0.9900 |
| 3:48295234:C:T | acceptor_gain | 0.9900 |
| 3:48295237:T:A | acceptor_loss | 0.9900 |
| 3:48298422:CTTA:C | donor_loss | 0.9900 |
| 3:48298423:TTA:T | donor_loss | 0.9900 |
| 3:48298424:TACC:T | donor_loss | 0.9900 |
AlphaMissense
1200 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:48295091:G:C | N126K | 0.997 |
| 3:48295091:G:T | N126K | 0.997 |
| 3:48295186:A:G | W95R | 0.997 |
| 3:48295186:A:T | W95R | 0.997 |
| 3:48298460:C:A | K19N | 0.997 |
| 3:48298460:C:G | K19N | 0.997 |
| 3:48295095:C:G | R125P | 0.996 |
| 3:48296148:G:C | F68L | 0.996 |
| 3:48296148:G:T | F68L | 0.996 |
| 3:48296150:A:G | F68L | 0.996 |
| 3:48294763:G:C | F145L | 0.994 |
| 3:48294763:G:T | F145L | 0.994 |
| 3:48294765:A:G | F145L | 0.994 |
| 3:48295096:G:T | R125S | 0.994 |
| 3:48295171:C:G | G100R | 0.994 |
| 3:48295171:C:T | G100R | 0.994 |
| 3:48295181:C:A | R96S | 0.994 |
| 3:48295181:C:G | R96S | 0.994 |
| 3:48295212:A:T | L86H | 0.994 |
| 3:48298462:T:C | K19E | 0.994 |
| 3:48295082:A:C | H129Q | 0.993 |
| 3:48295082:A:T | H129Q | 0.993 |
| 3:48295182:C:G | R96T | 0.993 |
| 3:48296127:G:C | F75L | 0.993 |
| 3:48296127:G:T | F75L | 0.993 |
| 3:48296129:A:G | F75L | 0.993 |
| 3:48295084:G:C | H129D | 0.992 |
| 3:48295104:G:A | T122I | 0.992 |
| 3:48295110:C:T | G120D | 0.992 |
| 3:48295170:C:T | G100E | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000337521 (3:48297263 T>A), RS1000455184 (3:48296811 G>A,C), RS1000669753 (3:48299005 T>G), RS1000701622 (3:48303317 A>C), RS1000716580 (3:48291977 G>A,T), RS1000822576 (3:48298737 T>A,C), RS1000832479 (3:48292281 T>C), RS1001291746 (3:48293192 C>A), RS1001575934 (3:48293666 T>C), RS1001905738 (3:48291861 G>A), RS1002005156 (3:48298200 C>T), RS1002057294 (3:48297936 C>T), RS1002350361 (3:48300833 G>A), RS1002458414 (3:48300524 T>A,C), RS1002550271 (3:48303053 A>C,G)
Disease associations
OMIM: gene MIM:608294 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010698_80 | Subcortical volume (min-P) | 3.000000e-24 |
| GCST010699_110 | Brain morphology (min-P) | 4.000000e-08 |
| GCST010701_52 | Cortical surface area (MOSTest) | 1.000000e-16 |
| GCST010702_36 | Subcortical volume (MOSTest) | 1.000000e-10 |
| GCST010703_262 | Brain morphology (MOSTest) | 2.000000e-13 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
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 |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 1,4-phenylenebis(methylene)selenocyanate | affects expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Aspirin | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Menthol | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Selenomethionine | affects expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3CI | Abcam HEK293T NME6 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.