CIB2 (calcium and integrin binding family member 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10518
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium and integrin binding family member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CIB2
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB48, KIP2, USH1J
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved i
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs141932061 C>T Benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
rs144346527 C>T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, synonymous variant
rs145415848 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic Coding sequence variant, missense variant, non coding transcript variant, intron variant, synonymous variant
rs201845656 G>A Pathogenic Intron variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs370965183 G>A,C Pathogenic Coding sequence variant, missense variant, non coding transcript variant, synonymous 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
MIRT024873 hsa-miR-215-5p Microarray 19074876
MIRT026843 hsa-miR-192-5p Microarray 19074876
MIRT612036 hsa-miR-572 HITS-CLIP 19536157
MIRT612035 hsa-miR-718 HITS-CLIP 19536157
MIRT612038 hsa-miR-6790-3p HITS-CLIP 23824327
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(38)
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IBA
GO:0000287 Function Magnesium ion binding IDA 22779914
GO:0000287 Function Magnesium ion binding IEA
GO:0001750 Component Photoreceptor outer segment IEA
GO:0001750 Component Photoreceptor outer segment 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
605564 24579 ENSG00000136425
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O75838
Protein name Calcium and integrin-binding family member 2 (Kinase-interacting protein 2) (KIP 2)
Protein function Calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis (By similarity). Acts as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells (By similarity). Essential for m
PDB 8XOQ
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:23023331). {ECO:0000269|PubMed:23023331}.
Sequence 
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLII
QMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTD
NFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFL
STFHIRI
Sequence length 187
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 (3)
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 48 rs397515411, rs370965183, rs397515412 N/A
Hearing Loss Hearing loss, autosomal recessive rs397515411, rs370965183 N/A
Usher Syndrome usher syndrome rs201845656 N/A
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 23275889
Deaf Blind Disorders Associate 29112224
Deafness Associate 18505454
Diabetes Mellitus Type 2 Associate 35271662
Hearing Loss Associate 29112224, 30303587, 34194829
Neoplasms Associate 37522128
Neuroendocrine Tumors Associate 37522128
Nonsyndromic Deafness Associate 34837038
Nonsyndromic sensorineural hearing loss Associate 29112224, 34194829
Sarcopenia Associate 35271662