CIB2 (calcium and integrin binding family member 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 10518
Gene name Calcium and integrin binding family member 2
Gene symbol CIB2
Synonyms (NCBI Gene)
DFNB48KIP2USH1J
Chromosome 15
Chromosome location 15q25.1
Summary 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.
8
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.
68
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605564 24579 ENSG00000136425
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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
67
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (10)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive nonsyndromic hearing loss 48 Likely pathogenic; Pathogenic rs780168150, rs397515411, rs370965183, rs397515412, rs145415848, rs765741202 RCV005005222
RCV000032887
RCV000032888
RCV000032889
RCV006249568
RCV002483678
CIB2-related disorder Likely pathogenic rs758251566 RCV003418898
Hearing impairment Likely pathogenic; Pathogenic rs780168150 RCV001375146
Hearing loss, autosomal recessive Likely pathogenic; Pathogenic rs397515411, rs370965183 RCV001291223
RCV001291224
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs142130860, rs145609090, rs149691331 RCV005915979
RCV005916087
RCV005917449
Childhood onset hearing loss Conflicting classifications of pathogenicity rs370359511 RCV001328027
Cholangiocarcinoma Likely benign rs142130860 RCV005915982
Lung cancer Likely benign; Benign rs145609090, rs59999498 RCV005916088
RCV005918371
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease 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