Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CIT (citron rho-interacting serine/threonine kinase)

Identity

Alias_namescitron (rho-interacting
Alias_symbol (synonym)KIAA0949
STK21
CRIK
CITK
Other aliasMCPH17
HGNC (Hugo) CIT
LocusID (NCBI) 11113
Atlas_Id 43214
Location 12q24.23  [Link to chromosome band 12q24]
Location_base_pair Starts at 119685790 and ends at 119877291 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)
APPL2 (12q23.3) / CIT (12q24.23)CIT (12q24.23) / FAM222A (12q24.11)CIT (12q24.23) / FTSJ3 (17q23.3)
CIT (12q24.23) / MSN (Xq12)CIT (12q24.23) / NUTF2 (16q22.1)CIT (12q24.23) / RFC5 (12q24.23)
FGFR2 (10q26.13) / CIT (12q24.23)TPM2 (9p13.3) / CIT (12q24.23)APPL2 12q23.3 / CIT 12q24.23
CIT 12q24.23 C12orf34

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Lung: Translocations in Adenocarcinoma
Lung: Translocations in Small Cell Carcinoma
t(10;12)(q26;q24) FGFR2/CIT
t(12;12)(q23;q24) APPL2/CIT
CIT/FAM222A (12q24)
CIT/RFC5 (12q24)

External links

Nomenclature
HGNC (Hugo)CIT   1985
Cards
Entrez_Gene (NCBI)CIT  11113  citron rho-interacting serine/threonine kinase
AliasesCITK; CRIK; MCPH17; STK21
GeneCards (Weizmann)CIT
Ensembl hg19 (Hinxton)ENSG00000122966 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122966 [Gene_View]  ENSG00000122966 [Sequence]  chr12:119685790-119877291 [Contig_View]  CIT [Vega]
ICGC DataPortalENSG00000122966
TCGA cBioPortalCIT
AceView (NCBI)CIT
Genatlas (Paris)CIT
WikiGenes11113
SOURCE (Princeton)CIT
Genetics Home Reference (NIH)CIT
Genomic and cartography
GoldenPath hg38 (UCSC)CIT  -     chr12:119685790-119877291 -  12q24.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CIT  -     12q24.23   [Description]    (hg19-Feb_2009)
EnsemblCIT - 12q24.23 [CytoView hg19]  CIT - 12q24.23 [CytoView hg38]
Mapping of homologs : NCBICIT [Mapview hg19]  CIT [Mapview hg38]
OMIM605629   617090   
Gene and transcription
Genbank (Entrez)AB023166 AK123136 AY209000 AY257469 AY681966
RefSeq transcript (Entrez)NM_001206999 NM_007174
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CIT
Cluster EST : UnigeneHs.119594 [ NCBI ]
CGAP (NCI)Hs.119594
Alternative Splicing GalleryENSG00000122966
Gene ExpressionCIT [ NCBI-GEO ]   CIT [ EBI - ARRAY_EXPRESS ]   CIT [ SEEK ]   CIT [ MEM ]
Gene Expression Viewer (FireBrowse)CIT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11113
GTEX Portal (Tissue expression)CIT
Human Protein AtlasENSG00000122966-CIT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14578   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14578  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14578
Splice isoforms : SwissVarO14578
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusO14578
Domaine pattern : Prosite (Expaxy)AGC_KINASE_CTER (PS51285)    CNH (PS50219)    PH_DOMAIN (PS50003)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)    ZF_DAG_PE_1 (PS00479)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)AGC-kinase_C    Citron_Rho-interacting_kinase    CNH_dom    CRIK_dom    Kinase-like_dom_sf    PE/DAG-bd    PH-like_dom_sf    PH_domain    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)CNH (PF00780)    PH (PF00169)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00780    pfam00169    pfam00069   
Domain families : Smart (EMBL)C1 (SM00109)  CNH (SM00036)  PH (SM00233)  S_TK_X (SM00133)  S_TKc (SM00220)  
Conserved Domain (NCBI)CIT
DMDM Disease mutations11113
Blocks (Seattle)CIT
SuperfamilyO14578
Human Protein Atlas [tissue]ENSG00000122966-CIT [tissue]
Peptide AtlasO14578
HPRD09289
IPIIPI00022465   IPI00884041   IPI00607850   IPI00719285   IPI01013658   IPI01013418   IPI01012963   
Protein Interaction databases
DIP (DOE-UCLA)O14578
IntAct (EBI)O14578
FunCoupENSG00000122966
BioGRIDCIT
STRING (EMBL)CIT
ZODIACCIT
Ontologies - Pathways
QuickGOO14578
Ontology : AmiGOG2/M transition of mitotic cell cycle  mitotic cell cycle  mitotic cytokinesis  protein serine/threonine kinase activity  protein binding  ATP binding  cytosol  protein phosphorylation  Golgi organization  regulation of actin polymerization or depolymerization  membrane  Rho GTPase binding  SH3 domain binding  PDZ domain binding  midbody  Golgi cisterna  cleavage furrow  positive regulation of cytokinesis  intracellular signal transduction  neuronal cell body  metal ion binding  generation of neurons  neuron apoptotic process  scaffold protein binding  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  mitotic cell cycle  mitotic cytokinesis  protein serine/threonine kinase activity  protein binding  ATP binding  cytosol  protein phosphorylation  Golgi organization  regulation of actin polymerization or depolymerization  membrane  Rho GTPase binding  SH3 domain binding  PDZ domain binding  midbody  Golgi cisterna  cleavage furrow  positive regulation of cytokinesis  intracellular signal transduction  neuronal cell body  metal ion binding  generation of neurons  neuron apoptotic process  scaffold protein binding  
NDEx NetworkCIT
Atlas of Cancer Signalling NetworkCIT
Wikipedia pathwaysCIT
Orthology - Evolution
OrthoDB11113
GeneTree (enSembl)ENSG00000122966
Phylogenetic Trees/Animal Genes : TreeFamCIT
HOVERGENO14578
HOGENOMO14578
Homologs : HomoloGeneCIT
Homology/Alignments : Family Browser (UCSC)CIT
Gene fusions - Rearrangements
Fusion : MitelmanAPPL2/CIT [12q23.3/12q24.23]  [t(12;12)(q23;q24)]  
Fusion : MitelmanCIT/FAM222A [12q24.23/12q24.11]  [t(12;12)(q24;q24)]  
Fusion : MitelmanCIT/RFC5 [12q24.23/12q24.23]  [t(12;12)(q24;q24)]  
Fusion : MitelmanFGFR2/CIT [10q26.13/12q24.23]  [t(10;12)(q26;q24)]  
Fusion PortalAPPL2 12q23.3 CIT 12q24.23 LUSC
Fusion PortalCIT 12q24.23 C12orf34 LUSC
Fusion : QuiverCIT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCIT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CIT
dbVarCIT
ClinVarCIT
1000_GenomesCIT 
Exome Variant ServerCIT
ExAC (Exome Aggregation Consortium)ENSG00000122966
GNOMAD BrowserENSG00000122966
Varsome BrowserCIT
Genetic variants : HAPMAP11113
Genomic Variants (DGV)CIT [DGVbeta]
DECIPHERCIT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCIT 
Mutations
ICGC Data PortalCIT 
TCGA Data PortalCIT 
Broad Tumor PortalCIT
OASIS PortalCIT [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCIT
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
BioMutasearch CIT
DgiDB (Drug Gene Interaction Database)CIT
DoCM (Curated mutations)CIT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CIT (select a term)
intoGenCIT
Cancer3DCIT(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605629    617090   
Orphanet732   
DisGeNETCIT
MedgenCIT
Genetic Testing Registry CIT
NextProtO14578 [Medical]
TSGene11113
GENETestsCIT
Target ValidationCIT
Huge Navigator CIT [HugePedia]
snp3D : Map Gene to Disease11113
BioCentury BCIQCIT
ClinGenCIT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11113
Chemical/Pharm GKB GenePA26522
Clinical trialCIT
Miscellaneous
canSAR (ICR)CIT (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCIT
EVEXCIT
GoPubMedCIT
iHOPCIT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:58:30 CET 2018
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