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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NKAPL
NFKB activating protein like
Chromosome 6 · 6p22.1
NCBI Gene: 222698Ensembl: ENSG00000189134.4HGNC: HGNC:21584UniProt: Q5M9Q1
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of gene expressionnucleuschromatin bindingazoospermiapartial chromosome Y deletionnon-small cell lung carcinomarheumatoid arthritis
✦AI Summary

NKAPL (NFKB activating protein-like) is a testis-specific transcriptional regulator that functions primarily in meiotic progression and spermatogenesis. Its mechanism involves facilitating RNA polymerase II pause-release by recognizing and stabilizing R-loop structures at GAA-rich loci, thereby coordinating transcription elongation with initiation through the SOX30/HDAC3 complex 1. This process is critical for the meiotic-to-postmeiotic transcriptome switch, enabling haploid gene expression during meiotic exit 1. Genetically, NKAPL variants associate with male infertility; both frameshift mutations and common SNPs (rs1635) in NKAPL cause azoospermia in humans 1. Beyond reproductive function, NKAPL shows disease relevance across multiple conditions: genetic variants associate with schizophrenia susceptibility in Han Chinese populations 23, and NKAPL is consistently downregulated across diverse cancer types 4. Epigenetic dysregulation of NKAPL—specifically promoter hypermethylation—correlates with acquired platinum resistance in ovarian cancer and serves as a prognostic marker in triple-negative breast cancer 56. Clinically, NKAPL represents a potential biomarker for chemotherapy resistance and psychiatric disease risk, though functional relationships in non-reproductive tissues require further investigation.

Sources cited
1
NKAPL facilitates Pol II pause-release via R-loop recognition, regulates meiotic exit, and its variants cause azoospermia
PMID: 39824811
2
NKAPL rs1635 SNP associates with schizophrenia susceptibility in Han Chinese
PMID: 24972756
3
NKAPL rs1635 polymorphism confirms association with schizophrenia in east China cohort
PMID: 26297123
4
NKAPL is consistently downregulated across 33 human cancer types
PMID: 28427185
5
NKAPL promoter hypermethylation associates with platinum resistance in ovarian cancer and increased sensitivity when demethylated
PMID: 36883413
6
NKAPL methylation patterns serve as diagnostic and prognostic markers in triple-negative breast cancer
PMID: 32544280
Disease Associationsⓘ20
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
rheumatoid arthritisOpen Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.06Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.06Suggestive
spermatogenic failure 63Open Targets
0.06Suggestive
spermatogenic failure 61Open Targets
0.06Suggestive
spermatogenic failure 62Open Targets
0.06Suggestive
spermatogenic failure 88Open Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure 59Open Targets
0.06Suggestive
spermatogenic failure 60Open Targets
0.06Suggestive
spermatogenic failure 73Open Targets
0.06Suggestive
spermatogenic failure 74Open Targets
0.06Suggestive
spermatogenic failure 48Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEG3Shared pathway100%TCF19Shared pathway100%ZNF711Shared pathway100%ZNF142Shared pathway100%ZNF239Shared pathway100%HNRNPDLShared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
26%
Ovary
17%
Lung
10%
Liver
10%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
NKAPLPEG3TCF19ZNF711ZNF142ZNF239HNRNPDL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5M9Q1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.23Tolerant
Observed/Expected LoF0.43 [0.24–0.81]
RankingsWhere NKAPL stands among ~20K protein-coding genes
  • #12,620of 20,598
    Most Researched27
  • #6,835of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedNKAPL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NKAPL facilitates transcription pause-release and bridges elongation to initiation during meiosis exit.
PMID: 39824811
Nat Commun · 2025
1.00
2
Association of NKAPL, TSPAN18, and MPC2 gene variants with schizophrenia based on new data and a meta-analysis in Han Chinese.
PMID: 27460766
Acta Neuropsychiatr · 2017
0.90
3
Resequencing and association study of the NFKB activating protein-like gene (NKAPL) in schizophrenia.
PMID: 24972756
Schizophr Res · 2014
0.80
4
Unveiling the epigenomic mechanisms of acquired platinum-resistance in high-grade serous ovarian cancer.
PMID: 36883413
Int J Cancer · 2023
0.70
5
ABCC9, NKAPL, and TMEM132C are potential diagnostic and prognostic markers in triple-negative breast cancer.
PMID: 32544280
Cell Biol Int · 2020
0.60