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CASC2 Gene

RNA gene   GIFtS: 34
GCID: GC10P119796

Cancer Susceptibility Candidate 2 (Non-Protein Coding)

(Previous names: chromosome 10 open reading frame 5, cancer susceptibility...)
(Previous symbol: C10orf5)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Subcategory (RNA class): antisense

Quality score for this RNA gene is 3

Aliases
Cancer Susceptibility Candidate 2 (Non-Protein Coding)1 2
C10orf51 2 3
Cancer Susceptibility Candidate 21
Chromosome 10 Open Reading Frame 51
Cancer Susceptibility Candidate Gene 2 Protein Isoforms 1/23
Cancer Susceptibility Candidate Gene 2 Protein, Isoform 33

External Ids:    HGNC: 229331   Entrez Gene: 2550822   Ensembl: ENSG000001776407   OMIM: 6085985   UniProtKB: Q8IU533   
UniProtKB: Q6XLA13   
ORGUL members:         

Export aliases for CASC2 gene to outside databases

Previous GC identifers: GC10P119470 GC10P119471 GC10P113434


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CASC2 Gene:
CASC2 (cancer susceptibility candidate 2 (non-protein coding)) is an RNA gene, and is affiliated with the antisense RNA class.

UniProtKB/Swiss-Prot: CSC2A_HUMAN, Q6XLA1
Function: May act as a potential tumor suppressor




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the CASC2 gene promoter:
         USF1   AP-2alpha isoform 3   CUTL1   AP-2alpha isoform 2   GATA-1   E47   USF-1   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASC2


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

Entrez Gene cytogenetic band: 10q26.11   Ensembl cytogenetic band:  10q26.11   HGNC cytogenetic band: 10q26.12

CASC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASC2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P119796:  view genomic region     (about GC identifiers)

Start:
119,805,790 bp from pter      End:
119,969,665 bp from pter
Size:
163,876 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CASC2

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: CASC2_HUMAN, Q8IU53 (See protein sequence)
Recommended Name: Protein CASC2, isoforms 1/2  
Size: 76 amino acids; 8607 Da
Secondary accessions: Q2M1K1 Q8IUI3
Alternative splicing: 3 isoforms:  Q8IU53-1   Q8IU53-2   Q6XLA1-1   

UniProtKB/Swiss-Prot: CSC2A_HUMAN, Q6XLA1 (See protein sequence)

Recommended Name: Protein CASC2, isoform 3  
Size: 102 amino acids; 11902 Da
Secondary accessions: D3DRC5
Alternative splicing: 3 isoforms:  Q6XLA1-1   Q8IU53-1   Q8IU53-2   

Explore the universe of human proteins at neXtProt for CASC2: NX_Q6XLA1


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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
LNCRNA: Long non-coding RNAs

ProtoNet protein and cluster: Q8IU53


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CSC2A_HUMAN, Q6XLA1
Function: May act as a potential tumor suppressor
Induction: Down-regulated in endometrial and colorectal tumor samples

Phenotypes:
     1 GenomeRNAi human phenotype for CASC2:

 Increased number of cells in m 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for CASC2

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CASC2
Interactions:

    Search GeneGlobe Interaction Network for CASC2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CASC2 (CSC2A)



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CASC2 gene (2 alternative transcripts): 
NM_178816.2  NM_201377.1  

Unigene Cluster for CASC2:

Cancer susceptibility candidate 2 (non-protein coding)
Hs.89387  [show with all ESTs]
Unigene Representative Sequence: BX537797
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000414722(antisense) ENST00000435944(antisense) ENST00000426021(antisense) ENST00000454781(antisense) ENST00000454857(antisense)
ENST00000439517(antisense)
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Additional mRNA sequence: 

AJ344228.1 AJ535620.1 AJ535621.1 AJ535622.1 AK055184.1 AY226450.1 AY226451.1 BC036393.1 
BC112306.1 BC112308.1 BC112326.1 BX537797.1 NR_026939.1 NR_026940.1 NR_026941.1 

9 DOTS entries:

DT.121282781  DT.97776719  DT.95369246  DT.309583  DT.100720924  DT.75134543  DT.121282802  DT.307726 
DT.315059 

Selected AceView cDNA sequences (see all 42):

AJ535622 BU607570 BX537797 AY226451 NM_178816 BE047598 AY226450 AJ535620 
NM_201377 BX097540 BX954122 AI701711 AI360575 AJ344228 AW195856 AL525727 
AW661839 AI018338 BC036393 AJ535621 BI826434 AW197910 AI272815 BI827242 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for CASC2    About this scheme

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1:                                      -     -     -               
SP2:                                                                  
SP3:                                      -                           
SP4:                          -           -                           
SP5:                                      -     -     -     -         


ECgene alternative splicing isoforms for CASC2

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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Expression evidence for CASC2:none

CASC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCCATCCTGT
CASC2 Expression
About this image

CASC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.89387

UniProtKB/Swiss-Prot: CSC2A_HUMAN, Q6XLA1
Tissue specificity: Expressed in normal and neoplastic endometrial tissues

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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)
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ENSEMBL Gene Tree for CASC2 (if available)
TreeFam Gene Tree for CASC2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CASC2 (see all 2751)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0394694
Some patients with endometrial cancer4--see VAR_0394692 P S mis40--------
rs1867556411,2
--119808143(+) CCCAAC/TAGCTG 3 -- int10--------
rs1155207871,2
F--119808504(+) GATATA/TCATGG 3 -- int11Minor allele frequency- T:0.05WA 118
rs1473618751,2
--119808730(+) GAATGA/CTTTGA 3 -- int10--------
rs1160522301,2
F--119808863(+) CAGACA/GTTGGG 3 -- int11Minor allele frequency- G:0.03WA 118
rs1378736131,2
--119808957(+) AAATAC/GCCCAC 3 -- int10--------
rs1147233811,2
C,F--119809049(+) GACAAC/GAAGAA 3 -- nc-transcript-variant1Minor allele frequency- G:0.02WA 118
rs106108731,2
C--119809241(+) tagat-/AGAT/AG
ATAGATAGAT
CAATC
3 -- int12NA 4
rs1494897381,2
--119809363(+) CATCGC/TTGGAC 3 -- int10--------
rs1439138421,2
--119809481(+) AATCCC/TAGGGC 3 -- int10--------

HapMap Linkage Disequilibrium report for CASC2 (119805790 - 119969665 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for CASC2 (see all 12):    About this table    
Variant IDTypeSubtypePubMed ID
esv2580643CNV Deletion19546169
esv2741495CNV Deletion23290073
esv2741517CNV Deletion23290073
esv2741506CNV Deletion23290073
esv2741484CNV Deletion23290073
esv1289381CNV Insertion17803354
esv1096716CNV Insertion17803354
esv1573329CNV Insertion17803354
nsv7567CNV Insertion18451855
esv1538733CNV Insertion17803354

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608598    OMIM disorders: --


Find genes that share disorders with CASC2           About GenesLikeMe

Genetic Association Database (GAD): CASC2

Export disorders for CASC2 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)
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PubMed articles for CASC2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CASC2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer. (PubMed id 15024726)1, 2, 9 Baldinu P.... Palmieri G. (Hum. Mutat. 2004)
  2. CASC2a gene is down-regulated in endometrial cancer. (PubMed id 17352238)2, 9 Baldinu P.... Palmieri G. (Anticancer Res. 2007)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
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)
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Entrez Gene: 255082 HGNC: 22933 AceView: CASC2 Ensembl:ENSG00000177640 euGenes: HUgn255082
ECgene: CASC2 H-InvDB: CASC2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CASC2 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CASC2 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CASC2 gene:
Search GeneIP for patents involving CASC2

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for CASC2
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 Search ThermoFisher Antibodies for CASC2
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CASC2
 Browse compounds at ApexBio
 Addgene plasmids for CASC2
  Search eBioscience for proteins for CASC2
  Search eBioscience for elisas for CASC2
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for CASC2
  Search antibodies-online for antibodies for CASC2
 antibodies-online kits for CASC2 (2 products)
  Search antibodies-online for peptides for CASC2
  Search antibodies-online for proteins for CASC2
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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