NLRP14
NLR Family Pyrin Domain Containing 14
Gene Information Card
| Symbol | NLRP14 |
|---|---|
| Full Name | NLR family pyrin domain containing 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 338323 ncbi.nlm.nih.gov/gene/338323 |
| Ensembl ID | ENSG00000187624 |
| UniProt ID | Q86W24 |
| OMIM ID | 609665 |
| HGNC ID | 22941 |
| Aliases | NOD27, NALP14, CLR11.2, PAN11 |
Description
NLRP14 (NLR family pyrin domain containing 14) is a member of the NOD-like receptor (NLR) family, characterized by an N-terminal pyrin domain (PYD), a central NACHT domain, and C-terminal leucine-rich repeats (LRRs). It is predominantly expressed in testis and is involved in spermatogenesis, potentially regulating germ cell apoptosis and immune responses. Mutations in NLRP14 have been associated with non-obstructive azoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 14 (SPGF14) | Loss-of-function mutations impair NLRP14-mediated regulation of germ cell apoptosis, leading to reduced or absent sperm production. | OMIM #615842; ClinVar |
| Non-obstructive azoospermia | Disrupted NLRP14 function compromises testicular immune homeostasis and spermatogenesis. | PubMed; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.5 | Low |
| Ovary | 0.3 | Low |
| Prostate | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.2 | Testicular germ cell tumor model |
| HEK293 | 0.1 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211C>T (p.Arg71Trp) | Missense | Rare | Loss of function; associated with spermatogenic failure |
| c.1048G>A (p.Glu350Lys) | Missense | Rare | Impaired protein stability; linked to azoospermia |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg71Trp, p.Glu350Lys) reduce protein stability or disrupt pyrin domain interactions, leading to defective spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported for NLRP14.
Dominant Negative (DN)
Not established; inheritance pattern in SPGF14 is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NOD-like receptor signaling pathway (KEGG: hsa04621)
• Inflammasome complex assembly (Reactome: R-HSA-844456)
Protein Summary
NLRP14 is a 1,047-amino-acid protein containing a pyrin domain (residues 1–90), a NACHT domain (residues 200–400), and multiple LRR motifs (residues 700–1000). It is thought to form an inflammasome complex in testicular germ cells, modulating caspase-1 activation and IL-1β secretion. Its expression is largely testis-specific, and loss-of-function variants cause autosomal recessive spermatogenic failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NLRP14 Knockout HEK293 Cell Line | EDJ-KQ14441 | Human | 338323 | Details Get a Quote |
| NLRP14 Knockout HeLa Cell Line | EDJ-KQ59605 | Human | 338323 | Details Get a Quote |
| NLRP14 Knockout A-549 Cell Line | EDJ-KQ68070 | Human | 338323 | Details Get a Quote |
| NLRP14 Knockout HCT 116 Cell Line | EDJ-KQ76447 | Human | 338323 | Details Get a Quote |
