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

CETN2 Gene

protein-coding   GIFtS: 63
GCID: GC0XM151996

Centrin, EF-Hand Protein, 2


(Previous symbol: CALT)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Centrin, EF-Hand Protein, 21 2
CALT1 2 3 5
CEN22 3
Caltractin (20kD Calcium-Binding Protein)2
centrin-22
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


(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 Gene:
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)

GeneCards Summary for CETN2 Gene: 
CETN2 (centrin, EF-hand protein, 2) is a protein-coding gene. Diseases associated with CETN2 include punctate epithelial keratoconjunctivitis, and xeroderma pigmentosum, group c, and among its related super-pathways are G2/M Transition and Cell Cycle, Mitotic. GO annotations related to this gene include microtubule binding and calcium ion binding. An important paralog of this gene is EFCAB2.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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, microtubule organizing center, 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

Explore proteomics data for CETN2 at MOPED 

Post-translational modifications:

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

  • CETN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CETN2 Protein Expression
    REFSEQ proteins: NP_004335.1  
    ENSEMBL proteins: 
     ENSP00000359300  
    Reactome Protein details: P41208
    Human Recombinant Protein Products for CETN2: 
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    Sino Biological Recombinant Protein for CETN2
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    ProSpec Recombinant Protein for CETN2
    Cloud-Clone Corp. 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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR000629 RNA-helicase_DEAD-box_CS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     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


    CETN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 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 IPI16760425
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
         
    CETN2 for ontologies           About GeneDecksing


    Animal Models:
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    hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-105 hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidCETN2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CETN2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    Mitotic G2-G2/M phases0.81
    Centrosome maturation0.83
    Loss of Nlp from mitotic centrosomes0.78
    G2/M Transition0.83
    Loss of proteins required for interphase microtubule organization,from the centrosome0.78
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Global Genomic NER (GG-NER)
    Nucleotide excision repair0.70
    4Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    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-743371 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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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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    hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-105 hsa-miR-636
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    Additional mRNA 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):

    NM_004344 AA916363 AI373064 BI495202 CB241031 AA379970 BF197587 C20558 
    CD679394 BM508174 AI681294 BE503032 AW772272 BQ068273 BM927115 AA283060 
    BM854779 BE182933 AI368642 CN483785 AI670881 BM786173 N67416 AI457787 

    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

    (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)      CETN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACACCTGT
    CETN2 Expression
    About this image


    CETN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/22 selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/hindbrain/4th ventricle   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Primary Oocyte Primary Follicle
             ovary ; follicle cells   

    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
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    In Situ
    Assay Products:
     

     
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    (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 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cetn21 , 5 centrin 21, 5 90.89(n)1
    95.93(a)1
      X (37.29 cM)5
    263701  NM_019405.61  NP_062278.21 
     729135325 
    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 --
    --
    84(a)
    1 → many
    GL343202.1(1696694-1705150)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC316
    Calcium-binding component of the spindle pole body...
    55(a)
    1 → many
    XV(811008-811493)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CETN2 gene
    EFCAB22  CETN12  CETN32  
    18/28 SIMAP similar genes for CETN2 using alignment to 1 protein entry:     CETN2_HUMAN(see all similar genes):
    CETN1    CETN3    CALM2    CALM1    CALML3    CALM3
    TNNC2    TNNC1    CALML5    MYL1    EFCAB2    PPP3R1
    HZGJ    PPP3R2    CABP5    CALML4    CALML6    MYL6

    CETN2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CETN2
    PGOHUM00000245685


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/47 SNPs in CETN2 are shown (see all 47)    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
    C--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
         Database of Genomic Variants (DGV) 3 variations for CETN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv470373CNV Gain18288195
    esv25868CNV Gain19812545
    dgv2493e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300006    OMIM disorders: --

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

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

    CETN2 for disorders           About GeneDecksing

    2 Novoseek inferred 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)

    Genetic Association Database (GAD): CETN2
    Human Genome Epidemiology (HuGE) Navigator: CETN2 (1 document)

    Export disorders for CETN2 gene to outside databases

    (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 86):
    (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)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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/

    (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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