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CIB2 (calcium and integrin binding family member 2)

Identity

Alias_namesDFNB48
USH1J
deafness, autosomal recessive 48
Usher syndrome 1J (autosomal recessive)
Alias_symbol (synonym)KIP2
Other alias
HGNC (Hugo) CIB2
LocusID (NCBI) 10518
Atlas_Id 46926
Location 15q25.1  [Link to chromosome band 15q25]
Location_base_pair Starts at 78396948 and ends at 78423877 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DNAJC17 (15q15.1) / CIB2 (15q25.1)DNAJC17 15q15.1 / CIB2 15q25.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CIB2   24579
Cards
Entrez_Gene (NCBI)CIB2  10518  calcium and integrin binding family member 2
AliasesDFNB48; KIP2; USH1J
GeneCards (Weizmann)CIB2
Ensembl hg19 (Hinxton)ENSG00000136425 [Gene_View]  chr15:78396948-78423877 [Contig_View]  CIB2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000136425 [Gene_View]  chr15:78396948-78423877 [Contig_View]  CIB2 [Vega]
ICGC DataPortalENSG00000136425
TCGA cBioPortalCIB2
AceView (NCBI)CIB2
Genatlas (Paris)CIB2
WikiGenes10518
SOURCE (Princeton)CIB2
Genetics Home Reference (NIH)CIB2
Genomic and cartography
GoldenPath hg19 (UCSC)CIB2  -     chr15:78396948-78423877 -  15q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CIB2  -     15q25.1   [Description]    (hg38-Dec_2013)
EnsemblCIB2 - 15q25.1 [CytoView hg19]  CIB2 - 15q25.1 [CytoView hg38]
Mapping of homologs : NCBICIB2 [Mapview hg19]  CIB2 [Mapview hg38]
OMIM605564   609439   614869   
Gene and transcription
Genbank (Entrez)AA731290 AB012955 AI817087 AI857912 AK293167
RefSeq transcript (Entrez)NM_001271888 NM_001271889 NM_001301224 NM_006383
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_033006 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)CIB2
Cluster EST : UnigeneHs.129867 [ NCBI ]
CGAP (NCI)Hs.129867
Alternative Splicing GalleryENSG00000136425
Gene ExpressionCIB2 [ NCBI-GEO ]   CIB2 [ EBI - ARRAY_EXPRESS ]   CIB2 [ SEEK ]   CIB2 [ MEM ]
Gene Expression Viewer (FireBrowse)CIB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10518
GTEX Portal (Tissue expression)CIB2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75838   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75838  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75838
Splice isoforms : SwissVarO75838
PhosPhoSitePlusO75838
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)CIB2
DMDM Disease mutations10518
Blocks (Seattle)CIB2
SuperfamilyO75838
Human Protein AtlasENSG00000136425
Peptide AtlasO75838
HPRD05713
IPIIPI00027169   IPI00797165   
Protein Interaction databases
DIP (DOE-UCLA)O75838
IntAct (EBI)O75838
FunCoupENSG00000136425
BioGRIDCIB2
STRING (EMBL)CIB2
ZODIACCIB2
Ontologies - Pathways
QuickGOO75838
Ontology : AmiGOmagnesium ion binding  photoreceptor outer segment  photoreceptor inner segment  integrin binding  calcium ion binding  protein binding  cytoplasm  muscle tendon junction  positive regulation of cytosolic calcium ion concentration  neuromuscular junction  stereocilium  sarcolemma  protein homodimerization activity  photoreceptor cell maintenance  calcium ion homeostasis  cellular response to ATP  blood microparticle  
Ontology : EGO-EBImagnesium ion binding  photoreceptor outer segment  photoreceptor inner segment  integrin binding  calcium ion binding  protein binding  cytoplasm  muscle tendon junction  positive regulation of cytosolic calcium ion concentration  neuromuscular junction  stereocilium  sarcolemma  protein homodimerization activity  photoreceptor cell maintenance  calcium ion homeostasis  cellular response to ATP  blood microparticle  
NDEx NetworkCIB2
Atlas of Cancer Signalling NetworkCIB2
Wikipedia pathwaysCIB2
Orthology - Evolution
OrthoDB10518
GeneTree (enSembl)ENSG00000136425
Phylogenetic Trees/Animal Genes : TreeFamCIB2
HOVERGENO75838
HOGENOMO75838
Homologs : HomoloGeneCIB2
Homology/Alignments : Family Browser (UCSC)CIB2
Gene fusions - Rearrangements
Fusion : MitelmanDNAJC17/CIB2 [15q15.1/15q25.1]  [t(15;15)(q15;q25)]  
Fusion: TCGADNAJC17 15q15.1 CIB2 15q25.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCIB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CIB2
dbVarCIB2
ClinVarCIB2
1000_GenomesCIB2 
Exome Variant ServerCIB2
ExAC (Exome Aggregation Consortium)CIB2 (select the gene name)
Genetic variants : HAPMAP10518
Genomic Variants (DGV)CIB2 [DGVbeta]
DECIPHER (Syndromes)15:78396948-78423877  ENSG00000136425
CONAN: Copy Number AnalysisCIB2 
Mutations
ICGC Data PortalCIB2 
TCGA Data PortalCIB2 
Broad Tumor PortalCIB2
OASIS PortalCIB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCIB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCIB2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CIB2
DgiDB (Drug Gene Interaction Database)CIB2
DoCM (Curated mutations)CIB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CIB2 (select a term)
intoGenCIB2
Cancer3DCIB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605564    609439    614869   
Orphanet19167    12047   
MedgenCIB2
Genetic Testing Registry CIB2
NextProtO75838 [Medical]
TSGene10518
GENETestsCIB2
Huge Navigator CIB2 [HugePedia]
snp3D : Map Gene to Disease10518
BioCentury BCIQCIB2
ClinGenCIB2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10518
Chemical/Pharm GKB GenePA134927274
Clinical trialCIB2
Miscellaneous
canSAR (ICR)CIB2 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCIB2
EVEXCIB2
GoPubMedCIB2
iHOPCIB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:56:38 CEST 2017

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