NANOGP8 (Nanog homeobox retrogene P8)

Gene

• Entrez ID: 388112
• Gene name: Nanog homeobox retrogene P8
• Gene symbol: NANOGP8
• Synonyms (NCBI Gene): NANOGP1, PN8
• Chromosome: 15
• Chromosome location: 15q14
• Summary: This gene represents a transcribed retrogene of the Nanog homeobox gene. The putative encoded protein may participate in reprogramming of cancer cells. In vitro studies using a recombinant protein have shown that the protein localizes to the nucleus and c

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16623708
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	16623708
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0019827	Process	Stem cell population maintenance	IBA
GO:0030154	Process	Cell differentiation	IBA
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IDA	16623708

Other IDs

• MIM: 621215
• HGNC: 23106
• e!Ensembl: ENSG00000255192

Protein

• UniProt ID: Q6NSW7
• Protein name: Homeobox protein NANOGP8
• Protein function: May act as a transcription regulator (By similarity). When overexpressed, promotes entry of cells into S phase and cell proliferation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	96 → 152	Homeodomain	Domain

• Sequence:

  MSVDPACPQSLPCFEESDCKESSPMPVICGPEENYPSLQMSSAEMPHTETVSPLPSSMDL
  LIQDSPDSSTSPKGKQPTSAENSVAKKEDKVPVKKQKTRTVFSSTQLCVLNDRFQRQKYL
  SLQQMQELSNILNLSYKQVKTWFQNQRMKSKRWQKNNWPKNSNGVTQKASAPTYPSLYSS
  YHQGCLVNPTGNLPMWSNQTWNNSTWSNQTQNIQSWSNHSWNTQTWCTQSWNNQAWNSPF
  YNCGEESLQSCMHFQPNSPASDLEAALEAAGEGLNVIQQTTRYFSTPQTMDLFLNYSMNM
  QPEDV

• Sequence length: 305

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells
Proteoglycans in cancer

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRONCHOPULMONARY DYSPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Colorectal Neoplasms	Associate	28453235	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	29787607, 32092088, 36696426	★☆☆☆☆ Found in Text Mining only
Glioma	Stimulate	36696426	★☆☆☆☆ Found in Text Mining only
Hypoxia	Stimulate	22216200	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	29689047	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	28453235, 29689047, 29787607, 32092088, 32168958, 32580970, 36696426	★☆☆☆☆ Found in Text Mining only
Obsessive Compulsive Disorder	Associate	22095678	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	33319795	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	29689047	★☆☆☆☆ Found in Text Mining only