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CIB2 (calcium and integrin binding family member 2)

Identity

Alias (NCBI)DFNB48
KIP2
USH1J
HGNC (Hugo) CIB2
HGNC Alias symbKIP2
HGNC Alias namekinase interacting protein 2
HGNC Previous nameDFNB48
 USH1J
HGNC Previous namedeafness, autosomal recessive 48
 Usher syndrome 1J (autosomal recessive)
LocusID (NCBI) 10518
Atlas_Id 46926
Location 15q25.1  [Link to chromosome band 15q25]
Location_base_pair Starts at 78104606 and ends at 78131445 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    calcium and integrin binding family member 2
AliasesDFNB48; KIP2; USH1J
GeneCards (Weizmann)CIB2
Ensembl hg19 (Hinxton)ENSG00000136425 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136425 [Gene_View]  ENSG00000136425 [Sequence]  chr15:78104606-78131445 [Contig_View]  CIB2 [Vega]
ICGC DataPortalENSG00000136425
TCGA cBioPortalCIB2
AceView (NCBI)CIB2
Genatlas (Paris)CIB2
SOURCE (Princeton)CIB2
Genetics Home Reference (NIH)CIB2
Genomic and cartography
GoldenPath hg38 (UCSC)CIB2  -     chr15:78104606-78131445 -  15q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CIB2  -     15q25.1   [Description]    (hg19-Feb_2009)
GoldenPathCIB2 - 15q25.1 [CytoView hg19]  CIB2 - 15q25.1 [CytoView hg38]
ImmunoBaseENSG00000136425
Genome Data Viewer NCBICIB2 [Mapview hg19]  
OMIM605564   609439   614869   
Gene and transcription
Genbank (Entrez)AA731290 AB012955 AI817087 AI857912 AK293167
RefSeq transcript (Entrez)NM_001271888 NM_001271889 NM_001301224 NM_006383
Consensus coding sequences : CCDS (NCBI)CIB2
Gene ExpressionCIB2 [ NCBI-GEO ]   CIB2 [ EBI - ARRAY_EXPRESS ]   CIB2 [ SEEK ]   CIB2 [ MEM ]
Gene Expression Viewer (FireBrowse)CIB2 [ Firebrowse - Broad ]
GenevisibleExpression of CIB2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10518
GTEX Portal (Tissue expression)CIB2
Human Protein AtlasENSG00000136425-CIB2 [pathology]   [cell]   [tissue]
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
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
SuperfamilyO75838
AlphaFold pdb e-kbO75838   
Human Protein Atlas [tissue]ENSG00000136425-CIB2 [tissue]
HPRD05713
Protein Interaction databases
DIP (DOE-UCLA)O75838
IntAct (EBI)O75838
BioGRIDCIB2
STRING (EMBL)CIB2
ZODIACCIB2
Ontologies - Pathways
QuickGOO75838
Ontology : AmiGOmagnesium ion binding  photoreceptor outer segment  photoreceptor inner segment  calcium ion binding  protein binding  cytoplasm  positive regulation of cytosolic calcium ion concentration  stereocilium  cuticular plate  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  calcium ion binding  protein binding  cytoplasm  positive regulation of cytosolic calcium ion concentration  stereocilium  cuticular plate  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
Homologs : HomoloGeneCIB2
Homology/Alignments : Family Browser (UCSC)CIB2
Gene fusions - Rearrangements
Fusion : MitelmanDNAJC17/CIB2 [15q15.1/15q25.1]  
Fusion : QuiverCIB2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCIB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CIB2
dbVarCIB2
ClinVarCIB2
MonarchCIB2
1000_GenomesCIB2 
Exome Variant ServerCIB2
GNOMAD BrowserENSG00000136425
Varsome BrowserCIB2
ACMGCIB2 variants
VarityO75838
Genomic Variants (DGV)CIB2 [DGVbeta]
DECIPHERCIB2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DCIB2
Mutations and Diseases : HGMDCIB2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCIB2
DgiDB (Drug Gene Interaction Database)CIB2
DoCM (Curated mutations)CIB2
CIViC (Clinical Interpretations of Variants in Cancer)CIB2
Cancer3DCIB2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605564    609439    614869   
Orphanet19167    12047   
DisGeNETCIB2
MedgenCIB2
Genetic Testing Registry CIB2
NextProtO75838 [Medical]
GENETestsCIB2
Target ValidationCIB2
Huge Navigator CIB2 [HugePedia]
ClinGenCIB2
Clinical trials, drugs, therapy
MyCancerGenomeCIB2
Protein Interactions : CTDCIB2
Pharm GKB GenePA134927274
PharosO75838
Clinical trialCIB2
Miscellaneous
canSAR (ICR)CIB2
HarmonizomeCIB2
DataMed IndexCIB2
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCIB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:04:04 CEST 2021

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