NUCB2 (nucleobindin 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 4925
Gene name Nucleobindin 2
Gene symbol NUCB2
Synonyms (NCBI Gene)
HEL-S-109NEFA
Chromosome 11
Chromosome location 11p15.1
Summary 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.
1
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.
68
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608020 8044 ENSG00000070081
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (125)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly Pubtator 33019423 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia BEFREE 23266808, 23601419, 28484396, 28542568, 28951234
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 26143537, 28951234
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 21803054, 26143537, 28273586, 28951234
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 21803054, 26143537, 28273586, 28951234
★★★★★
★☆☆☆☆
Found in Text Mining only
Apraxia, Developmental Verbal Apraxia BEFREE 30599786
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 36585713 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 29747779
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30327690
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Cerebral Ischemia BEFREE 29956089
★★★★★
★☆☆☆☆
Found in Text Mining only