NSUN7 Gene
NOP2/Sun RNA Methyltransferase 7
Gene Information Card
| Symbol | NSUN7 |
|---|---|
| Full Name | NOP2/Sun RNA Methyltransferase 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | 79730 ncbi.nlm.nih.gov/gene/79730 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q8N0Y2 |
| OMIM ID | 615944 |
| HGNC ID | 26414 |
| Aliases | MSTP070, NOP2/Sun domain family member 7 |
Description
NSUN7 encodes a member of the NOP2/Sun (NSUN) RNA methyltransferase family. The protein catalyzes 5-methylcytosine (m5C) methylation of RNA, particularly mitochondrial 12S rRNA. It is involved in mitochondrial translation and respiratory chain function. Mutations in NSUN7 are associated with mitochondrial dysfunction and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 23 | Loss-of-function mutations in NSUN7 impair mitochondrial RNA methylation, leading to reduced sperm motility and male infertility. | OMIM #615944; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 9.2 | Medium |
| Heart | 4.5 | Low |
| Liver | 3.1 | Low |
| Brain | 2.8 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | RNA-seq data from GTEx |
| K562 | 3.2 | RNA-seq data from GTEx |
| HeLa | 4.1 | RNA-seq data from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.682C>T (p.Arg228*) | Nonsense | Rare | Premature stop, loss of function |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Impaired methyltransferase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, reducing mitochondrial RNA methylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA methyltransferase activity (GO:0008173) | • 5-methylcytosine (m5C) RNA methylation (GO:0070475) |
| • Mitochondrion (GO:0005739) | • Mitochondrial large ribosomal subunit (GO:0005762) |
Pathways
• Mitochondrial RNA modification
Protein Summary
NSUN7 is a 767-amino acid protein containing a conserved NOL1/NOP2/sun domain. It localizes to mitochondria and methylates cytosine 5' position in mitochondrial 12S rRNA. This modification is essential for proper mitochondrial ribosome assembly and translation. Defects in NSUN7 cause reduced mitochondrial protein synthesis, leading to impaired oxidative phosphorylation and sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NSUN7 Knockout HEK293 Cell Line | EDJ-KQ14504 | Human | 79730 | Details Get a Quote |
| NSUN7 Knockout HeLa Cell Line | EDJ-KQ57214 | Human | 79730 | Details Get a Quote |
| NSUN7 Knockout A-549 Cell Line | EDJ-KQ65729 | Human | 79730 | Details Get a Quote |
| NSUN7 Knockout HCT 116 Cell Line | EDJ-KQ74146 | Human | 79730 | Details Get a Quote |
