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

CHIC2 Gene

protein-coding   GIFtS: 50
GCID: GC04M054875

Cysteine-Rich Hydrophobic Domain 2

  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
Cysteine-Rich Hydrophobic Domain 21 2
BTL2 3 5
BrX-Like Translocated In Leukemia2 3
Cystein-Rich Hydrophobic Domain 22
Cysteine-Rich Hydrophobic Domain 2 Protein2

External Ids:    HGNC: 19351   Entrez Gene: 265112   Ensembl: ENSG000001092207   OMIM: 6043325   UniProtKB: Q9UKJ53   

Export aliases for CHIC2 gene to outside databases

Previous GC identifers: GC04M054686 GC04M054845 GC04M054725 GC04M054791 GC04M054716 GC04M054570 GC04M050822


(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 CHIC2 Gene:
This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich
hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is
associated with some cases of acute myeloid leukemia. (provided by RefSeq, Jul 2008)

GeneCards Summary for CHIC2 Gene: 
CHIC2 (cysteine-rich hydrophobic domain 2) is a protein-coding gene. Diseases associated with CHIC2 include systemic mastocytosis, and mastocytosis. GO annotations related to this gene include protein binding and molecular_function. An important paralog of this gene is CHIC1.




(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_000004.11  NT_022853.15  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHIC2 gene promoter:
         STAT5B   AML1a   SREBP-1c   SREBP-1b   C/EBPalpha   PPAR-alpha   E2F-1   E2F   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CHIC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHIC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHIC2


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

Entrez Gene cytogenetic band: 4q11   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

CHIC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHIC2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M054875:  view genomic region     (about GC identifiers)

Start:
54,875,956 bp from pter      End:
54,930,857 bp from pter
Size:
54,902 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: CHIC2_HUMAN, Q9UKJ5 (See protein sequence)
Recommended Name: Cysteine-rich hydrophobic domain 2 protein  
Size: 165 amino acids; 19254 Da
Subcellular location: Cell membrane. Cytoplasmic vesicle. Note=Also present at a Golgi-like vesicular compartment
and at scattered vesicles
Secondary accessions: B2R639

Explore the universe of human proteins at neXtProt for CHIC2: NX_Q9UKJ5

Explore proteomics data for CHIC2 at MOPED 

Post-translational modifications:

  • UniProtKB: Palmitoylation in the CHIC motif is required for membrane association
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKJ5

  • CHIC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHIC2 Protein Expression
    REFSEQ proteins: NP_036242.1  
    ENSEMBL proteins: 
     ENSP00000263921   ENSP00000425238   ENSP00000421032  

    Human Recombinant Protein Products for CHIC2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CHIC2
    OriGene Protein Over-expression Lysate for CHIC2
    OriGene MassSpec for CHIC2 
    OriGene Custom Protein Services for CHIC2
    GenScript Custom Purified and Recombinant Proteins Services for CHIC2
    Novus Biologicals CHIC2 Proteins
    Novus Biologicals CHIC2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHIC2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005794Golgi apparatus ----
    GO:0005798Golgi-associated vesicle IEA--
    GO:0005886plasma membrane IEA--

    CHIC2 for ontologies           About GeneDecksing



    CHIC2 Antibody Products: 
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    Novus Biologicals CHIC2 Antibodies
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    Cloud-Clone Corp. Antibodies for CHIC2 
    ThermoFisher Antibodies for CHIC2
    LSBio Antibodies in human, mouse, rat for CHIC2 

    Assay Products for CHIC2: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CHIC2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CHIC2 
    Cloud-Clone Corp. CLIAs for CHIC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019383 Golgin_A_7/ERF4

    Graphical View of Domain Structure for InterPro Entry Q9UKJ5

    ProtoNet protein and cluster: Q9UKJ5

    UniProtKB/Swiss-Prot: CHIC2_HUMAN, Q9UKJ5
    Similarity: Belongs to the CHIC family


    CHIC2 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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI16189514
         
    CHIC2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHIC2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHIC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHIC2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHIC2 

    miRNA
    Products:
        
    miRTarBase miRNAs that target CHIC2:
    hsa-mir-197 (MIRT004146)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHIC2
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate CHIC2 (see all 11):
    hsa-miR-21* hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-197 hsa-miR-890 hsa-miR-124 hsa-miR-593*
    SwitchGear 3'UTR luciferase reporter plasmidCHIC2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CHIC2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHIC2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CHIC2
    Sirion Biotech Customized adenovirus for overexpression of CHIC2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CHIC2 (see all 7)
    OriGene ORF clones in mouse, rat for CHIC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHIC2 (NM_012110)
    Sino Biological Human cDNA Clone for CHIC2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHIC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHIC2
    Sirion Biotech Customized lentivirus for stable overexpression of CHIC2 
                         Customized lentivirus expression plasmids for stable overexpression of CHIC2 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CHIC2
    Search LifeMap BioReagents cell lines for CHIC2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHIC2


    (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




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHIC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/19 Interacting proteins for CHIC2 (Q9UKJ51, 2, 3 ENSP000002639214) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLEKHF2Q9H8W41, 2, 3, ENSP000003223734EBI-741528,EBI-742388 MINT-68314 I2D: score=5 STRING: ENSP00000322373
    HOXA1P496392, 3, ENSP000003432464MINT-66890 I2D: score=5 STRING: ENSP00000343246
    OTX1P322422, 3, ENSP000002825494MINT-68185 I2D: score=5 STRING: ENSP00000282549
    CATSPER1Q8NEC52, 3, ENSP000003090524MINT-68252 I2D: score=4 STRING: ENSP00000309052
    TOP3BO959852, 3, ENSP000003497054MINT-66177 I2D: score=5 STRING: ENSP00000349705
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    CHIC2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHIC2

    Search CenterWatch for drugs/clinical trials and news about CHIC2

    (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 CHIC2 gene: 
    NM_012110.3  

    Unigene Cluster for CHIC2:

    Cysteine-rich hydrophobic domain 2
    Hs.335393  [show with all ESTs]
    Unigene Representative Sequence: AK130041
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263921(uc003haj.2) ENST00000512964 ENST00000510894 ENST00000509678

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHIC2
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate CHIC2 (see all 11):
    hsa-miR-21* hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-197 hsa-miR-890 hsa-miR-124 hsa-miR-593*
    SwitchGear 3'UTR luciferase reporter plasmidCHIC2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CHIC2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHIC2
    Clone
    Products:
         
    OriGene clones in human, mouse for CHIC2 (see all 7)
    OriGene ORF clones in mouse, rat for CHIC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHIC2 (NM_012110)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHIC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHIC2
    Sirion Biotech Customized lentivirus for stable overexpression of CHIC2 
                         Customized lentivirus expression plasmids for stable overexpression of CHIC2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CHIC2
    OriGene qSTAR qPCR primer pairs in human, mouse for CHIC2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHIC2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHIC2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHIC2

    Additional mRNA sequence: 

    AF159423.1 AK130041.1 AK312427.1 BC034691.1 

    4 DOTS entries:

    DT.108771  DT.100668726  DT.91676531  DT.97809081 

    24/74 AceView cDNA sequences (see all 74):

    BX280749 AA287948 AK130041 CR624224 BF224009 BM469048 NM_012110 AA702220 
    AL079622 BI828538 BC034691 CR611915 AI078121 BE271723 BE897788 BE349120 
    BG613843 BU626873 AF159423 BX406865 BQ030053 AI149829 CD000771 BU568873 

    GeneLoc Exon Structure


    (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

    CHIC2 expression in normal human tissues (normalized intensities)      CHIC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTAAGTGT
    CHIC2 Expression
    About this image


    CHIC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

    See CHIC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHIC2

    SOURCE GeneReport for Unigene cluster: Hs.335393
        SABiosciences Custom PCR Arrays for CHIC2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CHIC2
    OriGene qSTAR qPCR primer pairs in human, mouse for CHIC2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHIC2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHIC2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHIC2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHIC2

    (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 animals.

    Orthologs for CHIC2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chic21 , 5 cysteine-rich hydrophobic domain 21, 5 95.96(n)1
    99.39(a)1
      5 (39.54 cM)5
    742771  NM_028850.41  NP_083126.11 
     750010265 
    chicken
    (Gallus gallus)
    Aves CHIC21 cysteine-rich hydrophobic domain 2 92.32(n)
    98.79(a)
      422751  XM_420705.3  XP_420705.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHIC26
    Uncharacterized protein
    84(a)
    1 ↔ 1
    5(103910764-103944717)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.324352 Xenopus laevis transcribed sequence with strong similarity more 86.22(n)    BJ617371.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc556702 similar to cysteine-rich hydrophobic domain 2 80.04(n)   394095  BC047177.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG59381 , 3 CG59381 64(a)3
    62.2(n)1
    64.63(a)1
      97F13
    432901  NM_170331.11  NP_733210.11 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-2666
    Protein TAG-266, isoform a
    43(a)
    1 → many
    III(639090-640215)


    ENSEMBL Gene Tree for CHIC2 (if available)
    TreeFam Gene Tree for CHIC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHIC2 gene
    CHIC12  
    1 SIMAP similar gene for CHIC2 using alignment to 3 protein entries:     CHIC2_HUMAN (see all proteins):
    CHIC1

    CHIC2 for paralogs           About GeneDecksing



    (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

    10/1008 SNPs in CHIC2 are shown (see all 1008)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs680103961,2
    C--50849996(+) ACACT-/AGACAT 1 -- int10--------
    rs1399200291,2
    C--50877272(+) GACAC-/AGGGGAA 1 -- int10--------
    rs1995645531,2
    C--50878407(+) CTGGTA/TTTTTT 1 -- us2k10--------
    rs1398266871,2
    --54776359(+) AAAAAC/TATACA 1 -- ds50010--------
    rs1431587881,2
    C--54776363(+) ATATAC/TACAGA 1 -- ds50010--------
    rs1840777381,2
    --54776404(+) GTTCTA/GGTAAC 1 -- ds50010--------
    rs1462250561,2
    C--54776520(+) TCTTCA/GTAACA 1 -- ds50010--------
    rs1869863991,2
    --54776628(+) TAATGA/GCAATA 1 -- ds50010--------
    rs1900213651,2
    --54776687(+) AATAGA/GTAAGT 1 -- ds50010--------
    rs1822524951,2
    --54776918(+) TTGACA/CAAAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CHIC2 (54875956 - 54930857 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CHIC2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv879019CNV Loss21882294
    nsv879018CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CHIC2
    DNA2.0 Custom Variant and Variant Library Synthesis for CHIC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604332   
    OMIM disorders: 601626  
    UniProtKB/Swiss-Prot: CHIC2_HUMAN, Q9UKJ5
  • Note=A chromosomal aberration involving CHIC2 is found in a form of acute myeloid leukemia (AML).
    Translocation t(4;12)(q12;p13) with ETV6

  • 7 diseases for CHIC2:    About MalaCards
    systemic mastocytosis    mastocytosis    acute myeloid leukemia    leukemia
    myeloid leukemia    eosinophilia    glioblastoma

    2 diseases from the University of Copenhagen DISEASES database for CHIC2:
    Eosinophilia     Mastocytosis

    CHIC2 for disorders           About GeneDecksing


    Export disorders for CHIC2 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 CHIC2 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with CHIC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). (PubMed id 10477709)1, 2, 3 Cools J.... Marynen P. (1999)
    2. A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif. (PubMed id 11257495)1, 2, 9 Cools J.... Marynen P. (2001)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    5. Intersectin (ITSN) family of scaffolds function as mol ecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (2012)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PubMed id 21909110)1 Wain L.V....van Duijn C.M. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26511 HGNC: 1935 AceView: CHIC2 Ensembl:ENSG00000109220 euGenes: HUgn26511
    ECgene: CHIC2 H-InvDB: CHIC2

    (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 CHIC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CHIC2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHIC2 gene:
    Search GeneIP for patents involving CHIC2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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