NUCB2 (nucleobindin 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4925
Gene name Gene Name - the full gene name approved by the HGNC.
Nucleobindin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NUCB2
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-109, NEFA
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs214088 C>A,G,T Likely-pathogenic Intron variant, upstream transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(68)
miRTarBase ID miRNA Experiments Reference
MIRT016539 hsa-miR-193b-3p Proteomics 21512034
MIRT024896 hsa-miR-215-5p Microarray 19074876
MIRT026936 hsa-miR-192-5p Microarray 19074876
MIRT030199 hsa-miR-26b-5p Microarray 19088304
MIRT452105 hsa-miR-548c-3p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0001965 Function G-protein alpha-subunit binding ISS
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 7811391
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608020 8044 ENSG00000070081
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P80303
Protein name Nucleobindin-2 (DNA-binding protein NEFA) (Epididymis secretory protein Li 109) (Gastric cancer antigen Zg4) (Prepronesfatin) [Cleaved into: Nesfatin-1]
Protein function Calcium-binding protein which may have a role in calcium homeostasis (By similarity). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein (G-protein) alpha subunit GNAI3 (By s
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 245 → 323 EF-hand domain pair Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in spleen, testis and normal stomach. {ECO:0000269|PubMed:12087473}.
Sequence 
MRWRTILLQYCFLLITCLLTALEAVPIDIDKTKVQNIHPVESAKIEPPDTGLYYDEYLKQ
VIDVLETDKHFREKLQKADIEEIKSGRLSKELDLVSHHVRTKLDELKRQEVGRLRMLIKA
KLDSLQDIGMDHQALLKQFDHLNHLNPDKFESTDLDMLIKAATSDLEHYDKTRHEEFKKY
EMMKEHERREYLKTLNEEKRKEEESKFEEMKKKHENHPKVNHPGSKDQLKEVWEETDGLD
PNDFDPKTFFKLHDVNSDGFLDEQELEALFTKELEKVYDPKNEEDDMVEMEEERLRMREH
VMNEVDTNKDRLVTLEEFLKATEKKEFLEPDSWETLDQQQFFTEEELKEYENIIALQENE
LKKKADELQKQKEELQRQHDQLEAQKLEYHQVIQQMEQKKLQQGIPPSGPAGELKFEPHI
Sequence length 420
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Body mass index and type 2 diabetes (pairwise) N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (46)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Stimulate 33019423
Acute Kidney Injury Associate 36385130
Arthritis Rheumatoid Associate 36585713
Breast Neoplasms Associate 21988594, 23958433, 24092574, 24422979, 28714371, 36012443
Bronchopulmonary Dysplasia Associate 39807735
Carcinogenesis Associate 24092574, 32221080
Carcinoma Ductal Associate 36012443
Carcinoma Renal Cell Associate 27806328
Carcinosarcoma Associate 37169340
Carotid Stenosis Associate 30599786