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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CETN2 Gene

protein-coding   GIFtS: 61
GCID: GC0XM151996

centrin, EF-hand protein, 2


(Previous symbol: CALT)
 Explore 7 diseases affiliated with
CETN2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CETN2    

Aliases
for CETN2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Centrin, EF-Hand Protein, 21 2
CALT1 2 3 5
CEN21 2 3
Caltractin (20kD Calcium-Binding Protein)2
Centrin-21
Caltractin Isoform 13

External Ids:    HGNC: 18671   Entrez Gene: 10692   Ensembl: ENSG000001474007   OMIM: 3000065   UniProtKB: P412083   

Export aliases for CETN2 gene to outside databases

Previous GC identifers: GC0XM146335 GC0XM148653 GC0XM149743 GC0XM150613 GC0XM151666 GC0XM151746


Summaries
for CETN2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CETN2:
Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high
level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a
fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper
duplication and segregation of the centrosome. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CETN2_HUMAN, P41208
Function: Plays a fundamental role in microtubule-organizing center structure and function. Required for centriole
duplication and correct spindle formation. Has a role in regulating cytokinesis and genome stability via cooperation
with CALM1 and CEP110
Function: Involved in global genome nucleotide excision repair (GG-NER) by acting as component of the XPC complex.
Cooperatively with RAD23B appears to stabilize XPC. In vitro, stimulates DNA binding of the XPC:RAD23B dimer
Function: The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with
other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition)
complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such
as single-stranded loops, mismatched bubbles or single stranded overhangs. The orientation of XPC complex binding
appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with
unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent
scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery. Cyclobutane pyrimidine
dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of
structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the
XPC complex in the respective DNA repair

Gene Wiki entry for CETN2


Genomic Views
for CETN2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CETN2 gene promoter:
         Nkx2-2   GCNF   CUTL1   GCNF-1   STAT3   Cart-1   NF-Y   GCNF-2   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CETN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CETN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CETN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

CETN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CETN2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM151996:  view genomic region     (about GC identifiers)

Start:
 151,995,517 bp from pter      End:
 151,999,321 bp from pter
Size:
 3,805 bases      Orientation:
 minus strand

Proteins
for CETN2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CETN2_HUMAN, P41208 (See protein sequence)
Recommended Name: Centrin-2  
Size: 172 amino acids; 19738 Da
Subunit: Monomer. Homooligomer. Interacts with CEP110, SFI1. Component of the XPC complex composed of XPC, RAD23B and
CETN2
Subcellular location: Cytoplasm, cytoskeleton, centrosome, centriole. Nucleus (Probable). Note=Centrosome of S-phase,
interphase and mitotic cells
Miscellaneous: Binds two moles of calcium per mole of protein
6 PDB 3D structures from and Proteopedia for CETN2:
1M39 (3D)        1ZMZ (3D)        2A4J (3D)        2GGM (3D)        2K2I (3D)        2OBH (3D)    
Secondary accessions: B2R4T4 Q53XW1

Explore the universe of human proteins at neXtProt for CETN2: NX_P41208

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P41208

    • CETN2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004335.1  
    ENSEMBL proteins: 
     ENSP00000359300  
    Reactome Protein details: P41208
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for CETN2
    Uscn Proteins for CETN2

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005813centrosome NAS8248209
    GO:0005814centriole IDA12176356
    GO:0005829cytosol TAS--
    GO:0005929cilium ----


    CETN2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CETN2

    Protein Domains /
    Families
    for CETN2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CETN2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000629 RNA-helicase_DEAD-box_CS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P41208

    ProtoNet protein and cluster: P41208

    UniProtKB/Swiss-Prot: CETN2_HUMAN, P41208
    Similarity: Belongs to the centrin family
    Similarity: Contains 4 EF-hand domains


    Function
    for CETN2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CETN2_HUMAN, P41208
    Function: Plays a fundamental role in microtubule-organizing center structure and function. Required for centriole
    duplication and correct spindle formation. Has a role in regulating cytokinesis and genome stability via cooperation
    with CALM1 and CEP110
    Function: Involved in global genome nucleotide excision repair (GG-NER) by acting as component of the XPC complex.
    Cooperatively with RAD23B appears to stabilize XPC. In vitro, stimulates DNA binding of the XPC:RAD23B dimer
    Function: The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with
    other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition)
    complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such
    as single-stranded loops, mismatched bubbles or single stranded overhangs. The orientation of XPC complex binding
    appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with
    unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent
    scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery. Cyclobutane pyrimidine
    dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of
    structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the
    XPC complex in the respective DNA repair

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: CETN2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0005509calcium ion binding NAS8248209
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--


    CETN2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for CETN2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Recruitment of mitotic centrosome proteins and complexes
    		Centrosome maturation1.00
    		Mitotic G2-G2/M phases0.81
    		Recruitment of mitotic centrosome proteins and complexes1.00
    		Loss of proteins required for interphase microtubule organization from the centrosome0.78
    		G2/M Transition0.83
    		Loss of Nlp from mitotic centrosomes0.78
    2Cell Cycle
    		Cell Cycle1.00
    		Cell Cycle, Mitotic0.84
    3Cytoskeletal Signaling
    		Cytoskeletal Signaling1.00
    4Global Genomic NER (GG-NER)
    		Nucleotide excision repair0.70

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for CETN2
        Cytoskeletal Signaling

    5/8        Reactome Pathways for CETN2 (see all 8)
        Centrosome maturation
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    G2/M Transition
    Loss of proteins required for interphase microtubule organization from the centrosome


    1         Kegg Pathway  (Kegg details for CETN2):
        Nucleotide excision repair


    CETN2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CETN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/68 Interacting proteins for CETN2 (P412081, 3 ENSP000003593004) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFI1A8K8P31, 3, ENSP000003831454STRING: ENSP00000383145 EBI-1789926,EBI-2803099 I2D: score=4 
    CCP110O433031, 3EBI-1789926,EBI-1566217 I2D: score=2 
    XPCQ018311, 3, ENSP000002850214EBI-1789926,EBI-372610 I2D: score=3 STRING: ENSP00000285021
    USP49Q70CQ13, ENSP000002972294I2D: score=2 STRING: ENSP00000297229
    USP44Q9H0E73, ENSP000002584994I2D: score=2 STRING: ENSP00000258499
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006289nucleotide-excision repair IDA15964821
    GO:0007067mitosis NAS8248209
    GO:0007099centriole replication IMP12176356


    CETN2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CETN2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CETN2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CETN2

    1 HMDB Compound for CETN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    1 Novoseek chemical compound relationship for CETN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 29.7 10 16627479 (2), 16411764 (1), 1602495 (1), 17897675 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about CETN2 

    Transcripts
    for CETN2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CETN2 gene: 
    NM_004344.1  

    Unigene Cluster for CETN2:

    Centrin, EF-hand protein, 2
    Hs.82794  [show with all ESTs]
    Unigene Representative Sequence: BG567463
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370277(uc004fgq.3) ENST00000493482

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK311940.1 BC005334.1 BC013873.2 BT007256.1 X72964.1 

    11 DOTS entries:

    DT.115532  DT.101972599  DT.121288728  DT.95075541  DT.121288696  DT.121288712  DT.95075564  DT.97859304 
    DT.100702480  DT.100824639  DT.92436370 

    24/249 AceView cDNA sequences (see all 249):

    BQ227846 BM786173 CD679394 CD106258 AI373064 AI368642 BM794962 BX105552 
    AI423700 CA444111 AA987867 BI752301 N67416 BQ068273 BM927115 AI681294 
    BI756033 BC005334 BM927070 AA916363 AW243721 AA283060 AA379970 CB158225 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CETN2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b
    SP1:              -                             -                           
    SP2:              -           -     -           -                           
    SP3:                                            -                           
    SP4:                                                                        


    ECgene alternative splicing isoforms for CETN2

    Expression
    for CETN2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CETN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTACACCTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CETN2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    BrainChoroid PlexusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    See CETN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CETN2

    SOURCE GeneReport for Unigene cluster: Hs.82794
        SABiosciences Custom PCR Arrays for CETN2
    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for CETN2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CETN2 gene from 7/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CETN21 centrin, EF-hand protein, 2 79.46(n)
    88.95(a)    		   422303  XM_420280.3  XP_420280.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 83(a)
    75(a)
    		 1 ↔ many
    possible ortholog
    		 GL343202.1(1700646-1703601)
    5(138654734-138657125)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC054948.12   -- 80.13(n)    BC054948.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii cetn22 centrin, EF-hand protein, 2 78.62(n)   373094  BQ075041.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG174931 , 3 calcium ion binding3
    CG174931    		 72(a)3
    65.25(n)1
    72.12(a)1    		   33551261  NM_001042931.21  NP_001036396.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons CEN21 calcium-binding protein CML19 57.87(n)
    50.92(a)    		   829855  NM_001036721.1  NP_001031798.1 
    rice
    (Oryza sativa)    		 Liliopsida AK074019.12   -- 72.89(n)    AK074019.1 


    ENSEMBL Gene Tree for CETN2 (if available)
    TreeFam Gene Tree for CETN2 (if available) 

    Paralogs
    for CETN2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CETN2 gene
    EFCAB22  CETN12  CETN32  
    18/29 SIMAP similar genes for CETN2 using alignment to 1 protein entry:     CETN2_HUMAN(see all similar genes):
    CETN1    CETN3    CALM3    CALM2    CALM1    CALML3
    TNNC2    TNNC1    CALN1    CALML5    MYL1    EFCAB2
    PPP3R1    HZGJ    PPP3R2    CABP5    CALML4    CALML6

    CETN2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CETN2
    PGOHUM00000245685


    Genomic Variants
    for CETN2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/84 NCBI SNPs in CETN2 are shown (see all 84)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1859435591,2
    		--151995391(+) TCACCC/GTGGAG 1 -- ds50010--------
    rs1911918401,2
    		--151995413(+) ATGTCA/CTCTAC 1 -- ds50010--------
    rs1424032471,2
    		--151995443(+) AATCCC/TGGGCA 1 -- ds50010--------
    rs1467722011,2
    		--151995466(+) TGGTTC/GGATGG 1 -- ds50010--------
    rs66276891,2
    		C,F,A,H,--151995563(+) GTTGCA/GTTAGC 1 -- ds5001 ese321Minor allele frequency- G:0.67NS EA NA WA CSA 2146
    rs1812259951,2
    		--151995644(+) CTATTC/TTTAGA 1 -- ds50010--------
    rs30883441,2
    		C,F,H,--151995786(+) GTTTTT/GTATCT 1 -- ds500138Minor allele frequency- G:0.73NS MN NA EA WA CSA 3384
    rs1858155501,2
    		--151995863(+) TAGAGA/CATACA 1 -- ds50010--------
    rs82301,2
    		C,F,A,H,--151995906(-) TATTTT/GTTTTG 1 -- ut3121Minor allele frequency- G:0.89NS EA NA 2330
    rs2004438491,2
    		--151995906(+) CAAAA-/CAAATA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CETN2 (151995517 - 151999321 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CETN2
         3 CNVs: 97093 3273 74080

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for CETN2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CETN2 for disorders           About GeneDecksing

    OMIM gene information: 300006    OMIM disorders: --

    7 diseases for CETN2:    About MalaCards
    xeroderma pigmentosum, group c    xeroderma pigmentosum    punctate epithelial keratoconjunctivitis    keratoconjunctivitis
    lung cancer    breast cancer    malaria

    1 disease from the University of Copenhagen DISEASES database for CETN2:
    Xeroderma pigmentosum

    2 Novoseek disease relationships for CETN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum 81.6 10 16627479 (3), 16533048 (2), 11279143 (1), 17897675 (1) (see all 6)
    cancer 0 1 9824621 (1)

    Human Genome Epidemiology (HuGE) Navigator: CETN2 (1 document)

    Export disorders for CETN2 gene to outside databases

    Publications
    for CETN2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CETN2 gene, integrated from 9 sources (see all 83):
    (articles sorted by number of sources associating them with CETN2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. (PubMed id 15964821)1, 2, 9 Nishi R....Hanaoka F. (2005)
    2. Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. (PubMed id 11279143)1, 2, 9 Araki M....Hanaoka F. (2001)
    3. Molecular cloning and centrosomal localization of human caltractin. (PubMed id 8248209)1, 2, 9 Lee V.D. and Huang B. (1993)
    4. The structure of the human centrin 2-xeroderma pigmentosum group C protein complex. (PubMed id 16627479)1, 2, 9 Thompson J.R.... Kumar R. (2006)
    5. Binding of human centrin 2 to the centrosomal protein hSfi1. (PubMed id 16956364)1, 2, 9 Martinez-Sanz J....Craescu C.T. (2006)
    6. Centrin-2 is required for centriole duplication in mammalian cells. (PubMed id 12176356)1, 2, 9 Salisbury J.L....Springett M. (2002)
    7. Refined mapping of caltractin in human Xq28 and in th e homologous region of the mouse X chromosome places the gene within the bare p atches (Bpa) and striated (Str) critical regions. (PubMed id 8597638)1, 3, 9 Chatterjee A....Herman G.E. (1995)
    8. Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. (PubMed id 16533048)1, 2, 9 Yang A....Craescu C.T. (2006)
    9. Calcium-dependent self-assembly of human centrin 2. (PubMed id 15356003)1, 2, 9 Tourbez M....Craescu C.T. (2004)
    10. C-terminal half of human centrin 2 behaves like a regulatory EF-hand domain. (PubMed id 12578356)1, 2, 9 Matei E....Craescu C.T. (2003)

    External Searches for CETN2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CETN2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1069 HGNC: 1867 AceView: CETN2 Ensembl:ENSG00000147400 euGenes: HUgn1069
    ECgene: CETN2 Kegg: 1069 H-InvDB: CETN2

    Other Databases showing CETN2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CETN2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CETN2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CETN2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cetn2/

    Intellectual Property
    for CETN2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CETN2 gene:
    Search GeneIP for patents involving CETN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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