Endometriosis Knowledgebase

Search Result

Gene id

4925

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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, nucleobinding 2, prepronesfatin,

Gene location

11p15.1 (17260339: 17331880) Exons: 27 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 by RefSeq, Oct 2011]

OMIM

608020

Protein Summary

Protein general information

P80303

Name: Nucleobindin 2 (DNA binding protein NEFA) (Gastric cancer antigen Zg4) (Prepronesfatin) [Cleaved into: Nesfatin 1]

Length: 420 Mass: 50,196

Tissue specificity: Predominantly expressed in spleen, testis and normal stomach. {ECO

Sequence

MRWRTILLQYCFLLITCLLTALEAVPIDIDKTKVQNIHPVESAKIEPPDTGLYYDEYLKQVIDVLETDKHFREKL
QKADIEEIKSGRLSKELDLVSHHVRTKLDELKRQEVGRLRMLIKAKLDSLQDIGMDHQALLKQFDHLNHLNPDKF
ESTDLDMLIKAATSDLEHYDKTRHEEFKKYEMMKEHERREYLKTLNEEKRKEEESKFEEMKKKHENHPKVNHPGS
KDQLKEVWEETDGLDPNDFDPKTFFKLHDVNSDGFLDEQELEALFTKELEKVYDPKNEEDDMVEMEEERLRMREH
VMSEVDTNKDRLVTLEEFLKATEKKEFLEPDSWETLDQQQFFTEEELKEYENIIALQENELKKKADELQKQKEEL
QRQHDQLEAQKLEYHQVIQQMEQKKLQQGIPPSGPAGELKFEPHI

Structural information

Protein Domains	EF-hand (241-276) EF-hand (293-328)
Interpro:	IPR011992 IPR018247 IPR002048 IPR028813
Prosite:	PS00018 PS50222
Pfam:	PF13499
MINT:	2804938
STRING:	ENSP00000436455;

Other Databases

GeneCards: NUCB2; Malacards: NUCB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IEA	molecular_function
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005635	nuclear envelope	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005793	endoplasmic reticulum-Gol gi intermediate compartme nt	IDA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005509	calcium ion binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005635	nuclear envelope	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005793	endoplasmic reticulum-Gol gi intermediate compartme nt	IDA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0046872	metal ion binding	IEA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0003677	DNA binding	TAS	molecular_function
GO:0005509	calcium ion binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0005793	endoplasmic reticulum-Gol gi intermediate compartme nt	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

Diseases

Associated diseases	References
Endometriosis	PMID: 24702902
Endometriosis	INFBASE24702902
Polycystic ovary syndrome (PCOS)	PMID: 22367584

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24702902	Endometrio sis			50 (25 who were laparoscopical ly and histopat hologically dia gnosed with end ometriosis, 25 women without a ny pelvic patho logy detected b y laparoscopy ( control group))			Show abstract