Gene Gene information from NCBI Gene database.
Entrez ID 794
Gene name Calbindin 2
Gene symbol CALB2
Synonyms (NCBI Gene)
CAB29CAL2CR
Chromosome 16
Chromosome location 16q22.2
Summary This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targ
miRNA miRNA information provided by mirtarbase database.
100
miRTarBase ID miRNA Experiments Reference
MIRT018745 hsa-miR-335-5p Microarray 18185580
MIRT858748 hsa-miR-1231 CLIP-seq
MIRT858749 hsa-miR-1267 CLIP-seq
MIRT858750 hsa-miR-1275 CLIP-seq
MIRT858751 hsa-miR-1293 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005634 Component Nucleus IBA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114051 1435 ENSG00000172137
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22676
Protein name Calretinin (CR) (29 kDa calbindin)
Protein function Calcium-binding protein involved in calcium homeostasis and signal transduction. It plays a critical role in buffering intracellular calcium levels and modulating calcium-dependent signaling pathways (PubMed:2001709). Predominantly expressed in
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 18 92 EF-hand domain pair Domain
PF13499 EF-hand_7 109 180 EF-hand domain pair Domain
PF13202 EF-hand_5 157 180 EF hand Domain
PF13405 EF-hand_6 199 234 EF-hand domain Domain
Tissue specificity TISSUE SPECIFICITY: Brain.
Sequence
Sequence length 271
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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 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
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 10366153, 15093134, 15736446, 28862203, 30354850
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 8864572
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29327712, 30711938
★☆☆☆☆
Found in Text Mining only
Aganglionosis, Colonic Colonic Aganglionosis BEFREE 31387515
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24028428 Associate
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 18223328
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma LHGDN 18223328, 18269580
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28294153
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis CTD_human_DG 11796754
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis CTD_human_DG 11796754
★☆☆☆☆
Found in Text Mining only