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

CISH Gene

protein-coding   GIFtS: 63
GCID: GC03M050618

Cytokine Inducible SH2-Containing Protein

Microbiology & Infectious Diseases Congress
  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
Cytokine Inducible SH2-Containing Protein1 2     SOCS2 3
Suppressor Of Cytokine Signaling2 3     BACTS22
CIS2 3     Cytokine-Inducible Inhibitor Of Signaling Type 1B2
CIS-12 3     Cytokine-Inducible SH2-Containing Protein2
G182 3     Protein G183

External Ids:    HGNC: 19841   Entrez Gene: 11542   Ensembl: ENSG000001147377   OMIM: 6024415   UniProtKB: Q9NSE23   

Export aliases for CISH gene to outside databases

Previous GC identifers: GC03P049337 GC03P049507 GC03M050498 GC03M050602


(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 CISH Gene:
The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the
cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT
inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of
cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic
cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the
erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Aug 2008)

GeneCards Summary for CISH Gene: 
CISH (cytokine inducible SH2-containing protein) is a protein-coding gene. Diseases associated with CISH include allergic asthma, and placental insufficiency, and among its related super-pathways are Development Prolactin receptor signaling and IL2-mediated signaling events. GO annotations related to this gene include molecular_function. An important paralog of this gene is SOCS3.

UniProtKB/Swiss-Prot: CISH_HUMAN, Q9NSE2
Function: SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal
transduction. CIS is involved in the negative regulation of cytokines that signal through the JAK-STAT5 pathway
such as erythropoietin, prolactin and interleukin 3 (IL3) receptor. Inhibits STAT5 trans-activation by
suppressing its tyrosine phosphorylation. May be a substrate-recognition component of a SCF-like ECS (Elongin
BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent
proteasomal degradation of target proteins (By similarity)

Gene Wiki entry for CISH 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_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CISH gene promoter:
         STAT5B   GR   NRSF form 1   GR-beta   STAT3   STAT5A   GR-alpha   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p21.2   HGNC cytogenetic band: 3p21.3

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M050618:  view genomic region     (about GC identifiers)

Start:
50,643,885 bp from pter      End:
50,649,262 bp from pter
Size:
5,378 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: CISH_HUMAN, Q9NSE2 (See protein sequence)
Recommended Name: Cytokine-inducible SH2-containing protein  
Size: 258 amino acids; 28663 Da
Subunit: Stably associated with the tyrosine-phosphorylated IL3 receptor beta chain and tyrosine-phosphorylated
EPO receptor (EPOR)
Sequence caution: Sequence=AAD28471.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2R9N1 G5E9R1 Q9NS38 Q9Y5R1
Alternative splicing: 3 isoforms:  Q9NSE2-1   Q9NSE2-2   Q9NSE2-3   

Explore the universe of human proteins at neXtProt for CISH: NX_Q9NSE2

Explore proteomics data for CISH at MOPED 

Post-translational modifications:

  • UniProtKB: Association with EPOR may target the protein for proteolysis by the ubiquitin-dependent proteasome pathway. CIS is
    mainly monubiquitinated (37 kDa form) but may also exist in a polyubiquitinated form (45 kDa)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NSE2

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

    CISH Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_037456.5  NP_659508.1  

    ENSEMBL proteins: 
     ENSP00000409346   ENSP00000294173  
    Reactome Protein details: Q9NSE2
    Human Recombinant Protein Products for CISH: 
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    Novus Biologicals CISH Proteins
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CISH 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--

    CISH 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: 
    SOCS: Suppressors of cytokine signaling
    SH2D: SH2 domain containing

    2 InterPro protein domains:
     IPR001496 SOCS_C
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry Q9NSE2

    ProtoNet protein and cluster: Q9NSE2

    2 Blocks protein domains:
    IPB000980 SH2 domain signature
    IPB001496 SOCS protein


    UniProtKB/Swiss-Prot: CISH_HUMAN, Q9NSE2
    Similarity: Contains 1 SH2 domain
    Similarity: Contains 1 SOCS box domain


    CISH 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: CISH_HUMAN, Q9NSE2
    Function: SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal
    transduction. CIS is involved in the negative regulation of cytokines that signal through the JAK-STAT5 pathway
    such as erythropoietin, prolactin and interleukin 3 (IL3) receptor. Inhibits STAT5 trans-activation by
    suppressing its tyrosine phosphorylation. May be a substrate-recognition component of a SCF-like ECS (Elongin
    BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent
    proteasomal degradation of target proteins (By similarity)
    Induction: By a subset of cytokines including EPO/erythropoietin

         Genatlas biochemistry entry for CISH:
    cytokine inducible SH2-containing protein gene,binding to IL3 and EPOR,predominantly expressed in fetal and adult
    liver and kidney,negative regulator of the JAK signaling pathway

         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 IPI16273093
         
    CISH for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CISH:
     Increased cell number in G1, s  Increased gamma-H2AX phosphory 

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

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    SwitchGear 3'UTR luciferase reporter plasmidCISH 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 CISH About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Prolactin receptor signaling
    Prolactin Signaling Pathway0.39
    Prolactin signaling pathway0.33
    Leptin signaling pathway0.35
    2IL-2 Signaling pathway
    IL2-mediated signaling events0.49
    IL-2 Signaling pathway0.49
    3Development EPO-induced Jak-STAT pathway
    Development EPO-induced Jak-STAT pathway0.42
    EPO Receptor Signaling0.42
    4Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
    Immune response IL-9 signaling pathway0.42
    IL-9 Pathway0.36
    5Development Thrombopoetin signaling via JAK-STAT pathway
    Development Thrombopoetin signaling via JAK-STAT pathway0.32
    Jak/Stat Pathway0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for CISH
        Immune response IL-9 signaling pathway
    Development EPO-induced Jak-STAT pathway
    Immune response IL-3 activation and signaling pathway
    Immune response IL-2 activation and signaling pathway
    Development Thrombopoetin signaling via JAK-STAT pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CISH
        IL-9 Pathway
    SOCS Pathway

    2 Cell Signaling Technology (CST) Pathways for CISH
        Lymphocyte Signaling
    Jak/Stat Pathway

    5 GeneGo (Thomson Reuters) Pathways for CISH
        Immune response IL-3 activation and signaling pathway
    Development EPO-induced Jak-STAT pathway
    Immune response IL-9 signaling pathway
    Immune response IL-2 activation and signaling pathway
    Development Thrombopoetin signaling via JAK-STAT pathway

    5/9 BioSystems Pathways for CISH (see all 9)
        MicroRNAs in cardiomyocyte hypertrophy
    EPO Receptor Signaling
    Kit Receptor Signaling Pathway
    IL-3 Signaling Pathway
    IL-2 Signaling pathway

    3        Reactome Pathways for CISH
        Cytokine Signaling in Immune system
    Growth hormone receptor signaling
    Immune System


    2         Kegg Pathways  (Kegg details for CISH):
        Jak-STAT signaling pathway
    Prolactin signaling pathway

    UniProtKB/Swiss-Prot: CISH_HUMAN, Q9NSE2
    Pathway: Protein modification; protein ubiquitination


    CISH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CISH

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

    5/49 Interacting proteins for CISH (Q9NSE22, 3 ENSP000004093464) via UniProtKB, MINT, STRING, and/or I2D (see all 49)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74493 MINT-74492 MINT-74494 MINT-74495 I2D: score=1 STRING: ENSP00000269571
    SMAD2Q157962, 3, ENSP000002621604MINT-61614 I2D: score=3 STRING: ENSP00000262160
    EGFRP005332, 3, ENSP000002754934MINT-74491 I2D: score=1 STRING: ENSP00000275493
    GHRP109123, ENSP000002308824I2D: score=3 STRING: ENSP00000230882
    IL2RBP147843, ENSP000002162234I2D: score=3 STRING: ENSP00000216223
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth NAS9465889
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0009968negative regulation of signal transduction IEA--
    GO:0016567protein ubiquitination IEA--
    GO:0035556intracellular signal transduction NAS10902923

    CISH 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

    CISH for compounds           About GeneDecksing

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

    Browse Tocris compounds for CISH

    10/21 Novoseek inferred chemical compound relationships for CISH gene (see all 21)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 60.2 45 9129017 (3), 7796808 (2), 16033816 (2), 12783885 (2) (see all 32)
    skf 96365 56.5 1 19059932 (1)
    thapsigargin 53.9 11 12623442 (1), 19059932 (1), 15937149 (1), 18342630 (1) (see all 8)
    gp 130 49.9 1 16630890 (1)
    5-aza-2'deoxycytidine 47.7 1 15361843 (1)
    ifn-alpha 41 6 11340296 (3), 16943383 (1), 18616672 (1)
    inositol 1,4,5 trisphosphate 38.2 4 17140548 (1), 20149454 (1), 15138280 (1)
    phosphotyrosine 35.1 7 16426581 (2), 16266868 (1), 16630890 (1), 10514520 (1) (see all 5)
    calcium 31.8 80 15937149 (5), 15226409 (4), 12765682 (3), 15036949 (3) (see all 29)
    ryanodine 23.1 2 19154741 (1)

    Search CenterWatch for drugs/clinical trials and news about CISH

    (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 CISH gene (2 alternative transcripts): 
    NM_013324.5  NM_145071.2  

    Unigene Cluster for CISH:

    Cytokine inducible SH2-containing protein
    Hs.655334  [show with all ESTs]
    Unigene Representative Sequence: NM_013324
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491847 ENST00000443053(uc010hlq.3) ENST00000348721(uc003dax.3)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-485-5p hsa-miR-1266 hsa-miR-944 hsa-miR-3190 hsa-miR-7 hsa-miR-4267 hsa-miR-548m hsa-miR-214*
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    Additional mRNA sequence: 

    AF132297.2 AK313850.1 BC031590.1 BC064354.1 D83532.1 

    8 DOTS entries:

    DT.412916  DT.100763677  DT.100763676  DT.91750383  DT.95196283  DT.95196284  DT.97789301  DT.100713022 

    24/111 AceView cDNA sequences (see all 111):

    AW161428 BG697340 BM917119 AA427521 AF035947 D83532 BC064354 BM923928 
    AA353819 CR594144 AI928902 CR602225 AA292305 AW168260 AI909695 BI820756 
    AW044289 AA298801 AI081672 AA336791 AI825418 AW957544 AI890332 BI760507 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for CISH

    (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

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


    CISH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             monocyte-derived dendritic cells   
     
     Bone (Muscoskeletal System)
             BONE MARROW   
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Ovary (Reproductive System)

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

    SOURCE GeneReport for Unigene cluster: Hs.655334

    UniProtKB/Swiss-Prot: CISH_HUMAN, Q9NSE2
    Tissue specificity: Expressed in various epithelial tissues. Abundantly expressed in liver and kidney, and to a
    lesser extent in lung. The tissue distribution of isoforms 1 and 1B is distinct

        SABiosciences Expression via Pathway-Focused PCR Array including CISH: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CISH

    (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 CISH gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cish1 , 5 cytokine inducible SH2-containing protein1, 5 86.25(n)1
    91.05(a)1
      9 (57.99 cM)5
    127001  NM_009895.31  NP_034025.11 
     1072960265 
    chicken
    (Gallus gallus)
    Aves CISH1 cytokine inducible SH2-containing protein 71.66(n)
    70.04(a)
      395335  NM_204626.1  NP_989957.1 
    lizard
    (Anolis carolinensis)
    Reptilia CISH6
    cytokine inducible SH2-containing protein
    62(a)
    1 ↔ 1
    2(151560588-151574288)
    zebrafish
    (Danio rerio)
    Actinopterygii socs81 suppressor of cytokine signaling 8 53.93(n)
    50.26(a)
      100136861  NM_001114554.1  NP_001108026.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Socs44A6
    Suppressor of Cytokine Signaling at 44A
    16(a)
    1 → many
    2R(4015136-4016981)
    worm
    (Caenorhabditis elegans)
    Secernentea F39B2.56
    Protein F39B2.5
    21(a)
    1 → many
    I(14775183-14776665)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CISH gene
    SOCS32  SOCS42  SOCS52  SOCS72  SOCS12  SOCS62  SOCS22  
    1 SIMAP similar gene for CISH using alignment to 1 protein entry:     CISH_HUMAN:
    SOCS2

    CISH 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

    UniProtKB/Swiss-Prot: CISH_HUMAN, Q9NSE2
    Polymorphism: Note=CISH polymorphisms are involved in susceptibilty to malaria [MIM:611162]
    Polymorphism: Note=Genetic variations in CISH are involved in susceptibilty to tuberculosis [MIM:607948]
    Polymorphism: Note=Genetic variations in CISH are associated with susceptibility to bacterial invasion of the
    blood and define the bacteremia susceptibility locus 2 (BACTS2) [MIM:614383]


    10/167 SNPs in CISH are shown (see all 167)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1426465651,2
    C--50576758(+) AGGTAC/TCATTT 2 -- ut310--------
    rs1510100211,2
    C--50576863(+) TATAAC/TTATTA 2 -- ut310--------
    rs1409051161,2
    C--50576905(+) CTCCTC/TTCATG 2 -- ut310--------
    rs1756341,2
    C,F,A,H--50576959(-) GGGCCA/GCCACT 2 -- ut31 ese332Minor allele frequency- G:0.30MN NA NS EA WA CSA 2989
    rs1441863981,2
    --50576960(+) GTGGCA/GGCCCT 2 -- ut310--------
    rs285251501,2
    C,F--50577008(+) CCCCCC/TGGGGC 2 -- ut31 ese32Minor allele frequency- T:0.06CSA WA 120
    rs749579111,2
    C,F--50577046(+) CAGATA/GCAGCT 2 -- ut311Minor allele frequency- G:0.04EA 120
    rs1172278401,2
    C,F--50577168(+) GAGTGG/AACACA 2 -- ut311Minor allele frequency- A:0.05EA 120
    rs1149538051,2
    C,F--50577274(+) AGCCAG/CGGCAG 2 -- ut311Minor allele frequency- C:0.05WA 118
    rs1140387531,2
    C,F--50577332(+) GGCTCG/ACCCCT 2 -- ut311Minor allele frequency- A:0.03NA 120

    HapMap Linkage Disequilibrium report for CISH (50643885 - 50649262 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CISH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508919CNV Insertion20534489
    nsv460533CNV Loss19166990
    nsv482083CNV Gain20164927


    Human Gene Mutation Database (HGMD): CISH
    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: 602441   
    OMIM disorders: 607948  611162  
    20/42 diseases for CISH (see all 42):    About MalaCards
    allergic asthma    placental insufficiency    severe congenital neutropenia    viral hepatitis
    neutropenia    uveitis    fibrous histiocytoma    histiocytoma
    insulin resistance    measles    tonsillitis    eosinophilia
    malaria    lung adenocarcinoma    hepatitis c    asthma
    vascular disease    arthritis    multiple myeloma    rheumatoid arthritis


    CISH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/37 Novoseek inferred disease relationships for CISH gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloproliferative disorders 44.5 1 18623127 (1)
    asthma allergic 33.7 3 17266577 (1), 16476192 (1)
    insulin resistance 32.7 9 11342531 (2), 15072573 (1), 18171427 (1), 17010638 (1) (see all 5)
    leukemia 32 5 20372794 (1), 11268394 (1), 19543316 (1), 19159951 (1)
    inflammation 28.8 9 19041303 (4), 15081412 (1), 15275643 (1), 15153517 (1) (see all 5)
    necrosis 24.6 8 15491991 (1), 15757867 (1), 12475383 (1), 17327369 (1) (see all 7)
    tumors 20.2 15 15491991 (1), 15757867 (1), 12475383 (1), 16125365 (1) (see all 14)
    cns diseases 17.2 1 14993936 (1)
    adenocarcinoma lung 10.9 2 12796816 (2)
    prostate cancer 8.53 5 16529812 (1), 12765682 (1), 15138280 (1), 17001312 (1)

    Genetic Association Database (GAD): CISH
    Human Genome Epidemiology (HuGE) Navigator: CISH (7 documents)

    Export disorders for CISH 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 CISH gene, integrated from 9 sources (see all 318):
    (articles sorted by number of sources associating them with CISH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CISH and susceptibility to infectious diseases. (PubMed id 20484391)1, 2, 4, 9 Khor C.C....Hill A.V. (2010)
    2. Molecular cloning of CISH, chromosome assignment to 3p21.3, and analysis of expression in fetal and adult tissues. (PubMed id 9465889)1, 2, 3 Uchida K.... Takahashi K. (1997)
    3. A novel cytokine-inducible gene CIS encodes an SH2-containing protein that binds to tyrosine-phosphorylated interleukin 3 and erythropoietin receptors. (PubMed id 7796808)1, 3, 9 Yoshimura A....Miyajima A. (1995)
    4. Proteasomes regulate erythropoietin receptor and signal transducer and activator of transcription 5 (STAT5) activation. Possible involvement of the ubiquitinated CIS protein. (PubMed id 9774439)1, 2, 9 Verdier F.... Mayeux P. (1998)
    5. Cloning and characterization of CIS 1b (cytokine inducible SH2- containing protein 1b), an alternative splicing form of CIS 1 gene. (PubMed id 10902923)1, 2, 9 Jiang C.... Zhao S. (2000)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. 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)
    8. cDNA representational difference analysis of human neutrophils stimulated by GM-CSF. (PubMed id 11032736)1, 2 Yousefi S.... Jarai G. (2000)
    9. Thrombopoietin induces an SH2-containing protein, CIS1, which binds to Mpl: involvement of the ubiquitin proteosome pathway. (PubMed id 10517496)1, 9 Okabe S....Ohyashiki K. (1999)
    10. CIS associates with the interleukin-2 receptor beta chain and inhibits interleukin-2-dependent signaling. (PubMed id 10514520)1, 9 Aman M.J....Leonard W.J. (1999)

    (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: 1154 HGNC: 1984 AceView: CISH Ensembl:ENSG00000114737 euGenes: HUgn1154
    ECgene: CISH Kegg: 1154 H-InvDB: CISH

    (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 CISH Pharmacogenomics, SNPs, Pathways

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

    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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