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CIB2 (calcium and integrin binding family member 2)

Identity

Other namesDFNB48
KIP2
USH1J
HGNC (Hugo) CIB2
LocusID (NCBI) 10518
Location 15q25.1
Location_base_pair Starts at 78396948 and ends at 78423877 bp from pter ( according to hg19-Feb_2009)
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
Entrez_Gene (NCBI)CIB2  10518  calcium and integrin binding family member 2
Cards
GeneCards (Weizmann)CIB2
Ensembl (Hinxton)ENSG00000136425 [Gene_View]  chr15:78396948-78423877 [Contig_View]  CIB2 [Vega]
AceView (NCBI)CIB2
Genatlas (Paris)CIB2
SOURCE (Stanford)NM_001271888 NM_001271889 NM_006383
Genomic and cartography
GoldenPath (UCSC)CIB2  -  15q25.1   chr15:78396948-78423877 -  15q25.1   [Description]    (hg19-Feb_2009)
EnsemblCIB2 - 15q25.1 [CytoView]
Mapping of homologs : NCBICIB2 [Mapview]
OMIM605564   609439   614869   
Gene and transcription
Genbank (Entrez)AA731290 AB012955 AK293167 BC020443 BC033108
RefSeq transcript (SRS)NM_001271888 NM_001271889 NM_006383
RefSeq transcript (Entrez)NM_001271888 NM_001271889 NM_006383
RefSeq genomic (SRS)AC_000147 NC_000015 NC_018926 NG_033006 NT_010194 NW_001838219 NW_004078084
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NG_033006 NT_010194 NW_001838219 NW_004078084
Consensus coding sequences : CCDS (NCBI)CIB2
Cluster EST : UnigeneHs.129867 [ SRS ] Hs.129867 [ NCBI ]
CGAP (NCI)Hs.129867
Alternative Splicing : Fast-db (Paris)GSHG0010626
Alternative Splicing GalleryENSG00000136425
Gene ExpressionCIB2 [ NCBI-GEO ]   CIB2 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75838 (SRS) O75838 (Uniprot)
NextProtO75838
With graphics : InterProO75838
Splice isoforms : SwissVarO75838(Swissvar)
Domaine pattern : Prosite (SRS)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (SRS)EF-hand-like_dom    EF_Hand_1_Ca_BS    EF_hand_dom   
Domains : Interpro (EBI)EF-hand-like_dom    EF_Hand_1_Ca_BS    EF_hand_dom   
Related proteins : CluSTrO75838
Domain families : Pfam (SRS)EF_hand_5 (PF13499)   
Domain families : Pfam (Sanger)EF_hand_5 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
DMDM10518
Blocks (Seattle)O75838
Human Protein AtlasENSG00000136425
HPRD05713
IPIIPI00027169   IPI00797165   
Protein Interaction databases
DIP (DOE-UCLA)O75838
IntAct (EBI)O75838
FunCoupENSG00000136425
REACTOMECIB2
Protein Interaction Database10518
BioGRIDCIB2
InParanoidO75838
Interologous Interaction database O75838
IntegromeDBCIB2
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CIB2
SNP (GeneSNP Utah)CIB2
SNP : HGBaseCIB2
Genetic variants : HAPMAPCIB2
Somatic Mutations in Cancer : COSMICCIB2 
CONAN: Copy Number AnalysisCIB2 
Mutations and Diseases : HGMDCIB2
OMIM605564    609439    614869   
GENETests605564    609439    614869   
Disease Genetic AssociationCIB2
Huge Navigator CIB2 [HugePedia]  CIB2 [HugeCancerGEM]
Genomic VariantsCIB2  CIB2 [DGVbeta]
ClinVarCIB2
snp3D : Map Gene to Disease10518
General knowledge
Homologs : HomoloGeneCIB2
Homology/Alignments : Family Browser (UCSC)CIB2
Phylogenetic Trees/Animal Genes : TreeFamCIB2
Chemical/Protein Interactions : CTD10518
Chemical/Pharm GKB GenePA134927274
Clinical trialCIB2
Cancer Resource (Charite)ENSG00000136425
Ontology : AmiGOphotoreceptor inner segment  calcium ion binding  protein binding  photoreceptor cell maintenance  calcium ion homeostasis  
Ontology : EGO-EBIphotoreceptor inner segment  calcium ion binding  protein binding  photoreceptor cell maintenance  calcium ion homeostasis  
Other databases
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
PubGeneCIB2
iHOPCIB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 17:33:54 CEST 2013
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