Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
794
Gene name Gene Name - the full gene name approved by the HGNC.
Calbindin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CALB2
Synonyms (NCBI Gene) Gene synonyms aliases
CAB29, CAL2, CR
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005634 Component Nucleus IBA 21873635
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005921 Component Gap junction IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
114051 1435 ENSG00000172137
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Familial rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
11796754
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 11796754
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
26198764
Unknown
Disease term Disease name Evidence References Source
Bipolar Disorder Bipolar Disorder GWAS
Neuroticism Neuroticism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 15736446
Adenocarcinoma Mucinous Associate 27062033
Adenocarcinoma of Lung Associate 29327712
Adenomatoid Tumor Associate 19543245
Alzheimer Disease Associate 24028428
Atrial Fibrillation Associate 29940585
Azoospermia Associate 38193226
Breast Neoplasms Associate 24322014
Carcinogenesis Associate 18214032, 19435792, 31671889
Carcinoma Associate 24262018