CABP2 (calcium binding protein 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51475
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CABP2
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB93
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins a
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs138981491 G>A,T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, missense variant
rs149431491 C>T Benign-likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs149712664 C>A,T Likely-pathogenic, pathogenic Splice donor variant
rs1591077467 CT>- Likely-pathogenic Coding sequence variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT020423 hsa-miR-106b-5p Microarray 17242205
MIRT857210 hsa-miR-3922-5p CLIP-seq
MIRT857211 hsa-miR-3937 CLIP-seq
MIRT857212 hsa-miR-4753-5p CLIP-seq
MIRT857213 hsa-miR-4755-3p CLIP-seq
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(20)
GO ID Ontology Definition Evidence Reference
GO:0005246 Function Calcium channel regulator activity IBA
GO:0005246 Function Calcium channel regulator activity ISS
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 10625670
GO:0005515 Function Protein binding IPI 32296183
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
607314 1385 ENSG00000167791
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9NPB3
Protein name Calcium-binding protein 2 (CaBP2)
Protein function Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797). Required for the normal transfer of light signals thr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00036 EF-hand_1 82 → 110 EF hand Domain
PF13499 EF-hand_7 155 → 219 EF-hand domain pair Domain
PF13833 EF-hand_8 169 → 220 EF-hand domain pair Domain
Tissue specificity TISSUE SPECIFICITY: Retina. {ECO:0000269|PubMed:11108966}.
Sequence 
MGNCAKRPWRRGPKDPLQWLGSPPRGSCPSPSSSPKEQGDPAPGVQGYSVLNSLVGPACI
FLRPSIAATQLDRELRPEEIEELQVAFQEFDRDRDGYIGCRELGACMRTLGYMPTEMELI
EISQQISGGKVDFEDFVELMGPKLLAETADMIGVRELRDAFREFDTNGDGRISVGELRAA
LKALLGERLSQREVDEILQDVDLNGDGLVDFEEFVRMMSR
Sequence length 220
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 Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 93 rs149712664 N/A
Hearing Loss Hearing loss, autosomal recessive rs149712664 N/A
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Genetic Diseases Inborn Associate 22981119
Hearing Loss Associate 22981119, 33666369, 35150090
Hearing Loss Sensorineural Associate 22981119, 33666369
Nonsyndromic sensorineural hearing loss Associate 22981119, 33666369, 35150090