NME9 Gene (NME/NM23 Family Member 9): Function, Disease Associations, and Expression
Comprehensive biomedical overview of NME9, including genomic context, protein function, expression profiles, and clinical relevance.
Gene Information Card
| Symbol | NME9 |
|---|---|
| Full Name | NME/NM23 family member 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 (GRCh38: chr3:138,317,851-138,345,433) |
| NCBI Gene ID | 64645 ncbi.nlm.nih.gov/gene/64645 |
| Ensembl ID | ENSG00000174718 |
| UniProt ID | Q96EQ8 |
| OMIM ID | 617597 |
| HGNC ID | 25717 |
| Aliases | NME9, NME/NM23 family member 9, MGC138499, MGC138501 |
Description
NME9 (NME/NM23 family member 9) is a protein-coding gene located on chromosome 3q29. It belongs to the NME/NM23 family, which is involved in nucleoside diphosphate kinase (NDPK) activity and various cellular processes including proliferation, differentiation, and metastasis suppression. NME9 is less characterized compared to other family members but is implicated in mitochondrial function and potential roles in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect metastasis suppression; specific mechanism not fully defined. | COSMIC: somatic mutations in multiple cancer types; expression changes noted in some studies. |
| Mitochondrial disorders | Potential role in mitochondrial nucleoside diphosphate kinase activity; mutations may impair mitochondrial function. | UniProt: subcellular localization to mitochondria; limited clinical evidence. |
| Neurodevelopmental disorders | Located in 3q29 region associated with microdeletion syndrome; haploinsufficiency may contribute to phenotype. | OMIM: 3q29 deletion syndrome includes NME9 in critical region; clinical evidence from case studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Moderate expression |
| K562 | 10.1 | Low expression |
| A549 | 7.4 | Low expression |
| MCF7 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.445C>T (p.Arg149Ter) | Nonsense | Rare (COSMIC: <0.1%) | Predicted loss of function; may lead to truncated protein. |
| c.632A>G (p.Tyr211Cys) | Missense | Rare (COSMIC: <0.1%) | Unknown effect; may affect protein stability. |
| c.789_790del (p.Glu264fs) | Frameshift | Rare (COSMIC: <0.1%) | Predicted loss of function. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function, potentially impairing mitochondrial NDPK activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in NME9.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleoside diphosphate kinase activity (GO:0004550) | • ATP binding (GO:0005524) |
| • mitochondrion (GO:0005739) | • nucleoside diphosphate phosphorylation (GO:0006165) |
| • signal transduction (GO:0007165) |
Pathways
• Nucleotide metabolism (NDPK pathway)
• p53 signaling pathway (potential interaction)
• Wnt signaling pathway (potential modulation)
Protein Summary
NME9 is a mitochondrial protein with nucleoside diphosphate kinase activity, catalyzing the transfer of phosphate groups between nucleoside diphosphates and triphosphates. It is involved in maintaining nucleotide pools for mitochondrial DNA synthesis and energy metabolism. NME9 may also play roles in cellular signaling and stress responses. Its expression is relatively low across tissues, with highest levels in testis and brain. Mutations are rare and may contribute to disease phenotypes, but functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NME9 Knockout HEK293 Cell Line | EDJ-KQ14443 | Human | 347736 | Details Get a Quote |
| NME9 Knockout HeLa Cell Line | EDJ-KQ59827 | Human | 347736 | Details Get a Quote |
| NME9 Knockout A-549 Cell Line | EDJ-KQ68294 | Human | 347736 | Details Get a Quote |
| NME9 Knockout HCT 116 Cell Line | EDJ-KQ76668 | Human | 347736 | Details Get a Quote |
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