NIT2 Gene: Nitrilase Family Member 2
A comprehensive resource on NIT2 gene, including genomic information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | NIT2 |
|---|---|
| Full Name | nitrilase family member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 56954 ncbi.nlm.nih.gov/gene/56954 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9NQR4 |
| OMIM ID | 608339 |
| HGNC ID | 7832 |
| Aliases | HEL-S-89n, nitrilase 2, omega-amidase NIT2 |
Description
NIT2 (nitrilase family member 2) is a protein-coding gene located on chromosome 1q23.3. It encodes a member of the nitrilase family, which catalyzes the hydrolysis of various nitriles to their corresponding carboxylic acids and ammonia. The enzyme is involved in the metabolism of nitrogen-containing compounds and has been implicated in cellular detoxification and amino acid metabolism. NIT2 is also known as omega-amidase, playing a role in the glutamine-dependent conversion of alpha-ketoglutaramate to alpha-ketoglutarate.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations in NIT2 may affect metabolic pathways, potentially influencing tumor growth and progression. | COSMIC database reports somatic mutations in multiple cancer types. |
| Metabolic disorders | Defects in NIT2 could disrupt nitrogen metabolism, leading to accumulation of toxic intermediates. | Inferred from function; limited direct evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.2 | Low |
| Lung | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line; high expression |
| HEK293 | 6.7 | Embryonic kidney cells; moderate expression |
| A549 | 3.1 | Lung carcinoma cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | p.Met1?; likely affects translation initiation |
| c.100C>T | missense | <0.01% | p.Arg34Trp; reported in COSMIC |
| c.200G>A | missense | <0.01% | p.Gly67Glu; unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the active site or cause premature truncation likely reduce or abolish enzymatic activity, impairing nitrogen metabolism.
Gain of Function (GOF)
No evidence for gain-of-function mutations in NIT2.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nitrilase activity (GO:0000257) | • nitrogen compound metabolic process (GO:0006807) |
| • hydrolase activity (GO:0016787) | • cytoplasm (GO:0005737) |
Pathways
• Nitrogen metabolism (Reactome: R-HSA-1430728)
• Glutamine degradation (KEGG: map00250)
Protein Summary
NIT2 encodes a 286-amino acid protein (UniProt Q9NQR4) belonging to the nitrilase family. The protein functions as a homodimer and catalyzes the hydrolysis of omega-amides, such as alpha-ketoglutaramate, to alpha-ketoglutarate and ammonia. It is localized in the cytoplasm and is highly expressed in liver and kidney, consistent with its role in nitrogen metabolism. Structural studies indicate a conserved catalytic triad (Cys, Glu, Lys) essential for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NIT2 Knockout HEK293 Cell Line | EDJ-KQ11904 | Human | 56954 | Details Get a Quote |
| NIT2 Knockout HeLa Cell Line | EDJ-KQ39132 | Human | 56954 | Details Get a Quote |
| NIT2 Knockout A-549 Cell Line | EDJ-KQ40371 | Human | 56954 | Details Get a Quote |
| NIT2 Knockout HCT 116 Cell Line | EDJ-KQ40372 | Human | 56954 | Details Get a Quote |
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