NANOG: Master Regulator of Pluripotency and Self-Renewal in Embryonic Stem Cells
Comprehensive genomic and functional analysis of the NANOG homeobox transcription factor gene
Gene Information Card
| Symbol | NANOG |
|---|---|
| Full Name | Nanog homeobox |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 79923 ncbi.nlm.nih.gov/gene/79923 |
| Ensembl ID | ENSG00000111704 |
| UniProt ID | Q9H9S0 |
| OMIM ID | 607937 |
| HGNC ID | 20857 |
| Aliases | FLJ12581, MGC1020, NANOG1, NANOG2 (pseudogene) |
Description
NANOG encodes a homeobox transcription factor that is critically involved in maintaining the pluripotency and self-renewal of embryonic stem cells. It acts in concert with other core pluripotency factors such as POU5F1 (OCT4) and SOX2 to regulate gene expression networks that prevent differentiation. NANOG is also implicated in germ cell development and is aberrantly expressed in various cancers, where it may contribute to cancer stem cell phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Testicular germ cell tumors | NANOG overexpression promotes pluripotency and tumorigenesis in germ cells | PMID: 15621527; COSMIC |
| Embryonal carcinoma | NANOG is a diagnostic marker and maintains stemness in embryonal carcinoma cells | PMID: 14576422; NCBI Gene |
| Breast cancer | Ectopic NANOG expression correlates with poor prognosis and stem-like properties | PMID: 23431147; ClinVar |
| Ovarian cancer | NANOG upregulation associated with chemoresistance and metastasis | PMID: 25642768; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Not detected |
| Placenta | 0.1 | Not detected |
| Embryonic stem cells (in vitro) | High (not nTPM) | High expression in undifferentiated state |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H1 (human embryonic stem cell) | High (not nTPM) | Strong expression in pluripotent state |
| NTERA-2 (embryonal carcinoma) | High (not nTPM) | Model for germ cell tumor |
| HeLa | Low | Minimal expression |
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.244C>T (p.Arg82Trp) | Missense | Rare | Reduced DNA binding affinity |
| c.715G>A (p.Gly239Arg) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the homeodomain or cause premature truncation impair NANOG's ability to maintain pluripotency.
Gain of Function (GOF)
Amplification or overexpression of NANOG in cancers may enhance stemness and tumorigenicity.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported in NANOG.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pluripotency of embryonic stem cells (KEGG: hsa04550)
• Signaling pathways regulating pluripotency of stem cells (KEGG: hsa04550)
• Transcriptional regulation of pluripotent stem cells (Reactome: R-HSA-913653)
Protein Summary
NANOG is a 305-amino acid homeobox transcription factor that localizes to the nucleus. It contains a conserved homeodomain (residues 96–155) responsible for sequence-specific DNA binding. The protein forms homodimers and heterodimers with other pluripotency factors. NANOG is rapidly degraded in differentiating cells and is tightly regulated at the transcriptional and post-translational levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NANOGP8 Knockout HEK293 Cell Line | EDJ-KQ11978 | Human | 388112 | Details Get a Quote |
| NANOGNB Knockout HEK293 Cell Line | EDJ-KQ14368 | Human | 360030 | Details Get a Quote |
| NANOG Knockout HEK293 Cell Line | EDJ-KQ51711 | Human | 79923 | Details Get a Quote |
| NANOG Knockout HeLa Cell Line | EDJ-KQ57254 | Human | 79923 | Details Get a Quote |
| NANOGNB Knockout HeLa Cell Line | EDJ-KQ59884 | Human | 360030 | Details Get a Quote |
| NANOG Knockout A-549 Cell Line | EDJ-KQ65766 | Human | 79923 | Details Get a Quote |
| NANOGNB Knockout A-549 Cell Line | EDJ-KQ68347 | Human | 360030 | Details Get a Quote |
| NANOG Knockout HCT 116 Cell Line | EDJ-KQ74190 | Human | 79923 | Details Get a Quote |
| NANOGNB Knockout HCT 116 Cell Line | EDJ-KQ76723 | Human | 360030 | Details Get a Quote |
