• Gene id: 4925

Gene Summary

• Gene Symbol: NUCB2   Gene   UCSC   Ensembl
• Aliases: HEL-S-109, NEFA
• Gene name: nucleobindin 2
• Alternate names: nucleobindin-2, DNA-binding protein NEFA, epididymis secretory protein Li 109, gastric cancer antigen Zg4, nesfatin 1, novel DNA binding/EF-hand/leucine zipper protein, nucleobinding 2, prepronesfatin,
• Gene location: 11p15.1 (17260336: 17349979)     Exons: 23     NC_000011.10
• Gene summary(Entrez): This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided b
• OMIM: 608020

Protein Summary

• Protein general information: P80303  
  • Name: Nucleobindin 2 (DNA binding protein NEFA) (Epididymis secretory protein Li 109) (Gastric cancer antigen Zg4) (Prepronesfatin) [Cleaved into: Nesfatin 1]
  • Length: 420  
  • Mass: 50223
  • Tissue specificity: Predominantly expressed in spleen, testis and normal stomach. {ECO
• Sequence:

  MRWRTILLQYCFLLITCLLTALEAVPIDIDKTKVQNIHPVESAKIEPPDTGLYYDEYLKQVIDVLETDKHFREKL
  QKADIEEIKSGRLSKELDLVSHHVRTKLDELKRQEVGRLRMLIKAKLDSLQDIGMDHQALLKQFDHLNHLNPDKF
  ESTDLDMLIKAATSDLEHYDKTRHEEFKKYEMMKEHERREYLKTLNEEKRKEEESKFEEMKKKHENHPKVNHPGS
  KDQLKEVWEETDGLDPNDFDPKTFFKLHDVNSDGFLDEQELEALFTKELEKVYDPKNEEDDMVEMEEERLRMREH
  VMNEVDTNKDRLVTLEEFLKATEKKEFLEPDSWETLDQQQFFTEEELKEYENIIALQENELKKKADELQKQKEEL
  QRQHDQLEAQKLEYHQVIQQMEQKKLQQGIPPSGPAGELKFEPHI

• Structural information:
  • Protein Domains: (241..27-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (293..32-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR028813  IPR040250  
  • Prosite: PS00018 PS50222
  • STRING: ENSP00000436455
• Other Databases: GeneCards:  NUCB2  Malacards:  NUCB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0032099	negative regulation of appetite	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005640	nuclear outer membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0001965	G-protein alpha-subunit binding	ISS	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0007264	small GTPase mediated signal transduction	ISS	biological process

Diseases

Associated diseases	References
Polycystic ovary syndrome (PCOS)	INFBASE: 24920281
Endometriosis	INFBASE: 24702902
type 2 diabetes mellitus	PMID:22108805
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881