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SETD5 Gene

protein-coding   GIFtS: 49
GCID: GC03P009439

SET Domain Containing 5

  See SETD5-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)
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Aliases
SET Domain Containing 51 2
SET Domain-Containing Protein 52
KIAA17573

External Ids:    HGNC: 255661   Entrez Gene: 552092   Ensembl: ENSG000001681377   UniProtKB: Q9C0A63   

Export aliases for SETD5 gene to outside databases

Previous GC identifers: GC03P009414 GC03P009376


(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 SETD5 Gene:
SETD5 (SET domain containing 5) is a protein-coding gene. Diseases associated with SETD5 include intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency, and mental retardation, autosomal dominant 23. An important paralog of this gene is KMT2E.


(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_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SETD5 gene promoter:
         Egr-3   Sp1   STAT5A   AP-2gamma   CBF-C   c-Ets-1   Egr-2   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SETD5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SETD5


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

Entrez Gene cytogenetic band: 3p25.3   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p25.3

SETD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SETD5 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P009439:  view genomic region     (about GC identifiers)

Start:
9,439,299 bp from pter      End:
9,520,924 bp from pter
Size:
81,626 bases      Orientation:
plus strand

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SETD5_HUMAN, Q9C0A6 (See protein sequence)
Recommended Name: SET domain-containing protein 5  
Size: 1442 amino acids; 157515 Da
Sequence caution: Sequence=AAH20956.1; Type=Erroneous initiation; Sequence=BAA91762.1; Type=Erroneous initiation;
Sequence=BAB14903.1; Type=Erroneous initiation; Sequence=BAB15144.1; Type=Erroneous initiation;
Sequence=BAB21848.1; Type=Erroneous initiation;
Secondary accessions: Q6AI17 Q8WUB6 Q9H3X4 Q9H6V7 Q9H7S3 Q9NVI9
Alternative splicing: 3 isoforms:  Q9C0A6-1   Q9C0A6-2   Q9C0A6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SETD5: NX_Q9C0A6

Explore proteomics data for SETD5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SETD5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073986.1  
    ENSEMBL proteins: 
     ENSP00000397076   ENSP00000413786   ENSP00000395959   ENSP00000393221   ENSP00000383939  
     ENSP00000384114   ENSP00000408837   ENSP00000302028   ENSP00000382593   ENSP00000401554  
     ENSP00000399993   ENSP00000385852   ENSP00000384429  

    SETD5 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SETD5
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SETD5

     
    Search eBioscience for Proteins for SETD5 

    SETD5 Antibody Products:

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    Novus Biologicals SETD5 Antibodies
    Abcam antibodies for SETD5
    Cloud-Clone Corp. Antibodies for SETD5
    Search ThermoFisher Antibodies for SETD5
    Search LSBio for Antibodies for SETD5

    SETD5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SETD5
    Cloud-Clone Corp. CLIAs for SETD5
    Search eBioscience for ELISAs for SETD5 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001214 SET_dom

    Graphical View of Domain Structure for InterPro Entry Q9C0A6

    ProtoNet protein and cluster: Q9C0A6

    1 Blocks protein domain: IPB001214 Nuclear protein SET

    UniProtKB/Swiss-Prot: SETD5_HUMAN, Q9C0A6
    Similarity: Contains 1 SET domain


    Find genes that share domains with SETD5           About GenesLikeMe


    (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,
    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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SETD5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SETD5:
     Increased HPV18 LCR reporter a 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Setd5):
     cellular  mortality/aging 

    Find genes that share phenotypes with SETD5           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SETD5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SETD5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SETD5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SETD5

    miRNA
    Products:
        
    miRTarBase miRNAs that target SETD5:
    hsa-let-7b-5p (MIRT052323), hsa-mir-877-3p (MIRT037023), hsa-mir-26b-5p (MIRT029866), hsa-mir-16-5p (MIRT051240)

    Block miRNA regulation of human, mouse, rat SETD5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SETD5 (see all 34):
    hsa-miR-607 hsa-miR-29a hsa-miR-25 hsa-miR-30d hsa-miR-105 hsa-miR-1184 hsa-miR-30a hsa-miR-3622b-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SETD5
    Predesigned siRNA for gene silencing in human, mouse, rat SETD5

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SETD5

    Clone
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    OriGene clones in human, mouse for SETD5 (see all 7)
    OriGene ORF clones in mouse, rat for SETD5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SETD5 (NM_001080517)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SETD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETD5

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SETD5
    Browse ESI BIO Cell Lines and PureStem Progenitors for SETD5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including SETD5: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SETD5

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

    Selected Interacting proteins for SETD5 (Q9C0A62, 3 ENSP000003839394) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-66971 I2D: score=5 STRING: ENSP00000311695
    DPPA2Q7Z7J52, 3MINT-66647 I2D: score=4 
    LDOC1O957513, ENSP000003595574I2D: score=1 STRING: ENSP00000359557
    TRAF2Q129333, ENSP000002476684I2D: score=5 STRING: ENSP00000247668
    GATA5ENSP000002529974STRING: ENSP00000252997
    About this table

    (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 SETD5



    (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 SETD5 gene (2 alternative transcripts): 
    NM_001080517.1  NM_018187.2  

    Unigene Cluster for SETD5:

    SET domain containing 5
    Hs.288164  [show with all ESTs]
    Unigene Representative Sequence: NM_001080517
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000431285 ENST00000450326 ENST00000463180 ENST00000478475 ENST00000415650
    ENST00000443339(uc003brs.1) ENST00000406341 ENST00000468208 ENST00000407969(uc003brv.3 uc010hck.3 uc003brx.3)
    ENST00000442373 ENST00000302463 ENST00000466172 ENST00000490791 ENST00000493918
    ENST00000399686 ENST00000497213 ENST00000413704 ENST00000466242(uc003brw.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SETD5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SETD5 (see all 34):
    hsa-miR-607 hsa-miR-29a hsa-miR-25 hsa-miR-30d hsa-miR-105 hsa-miR-1184 hsa-miR-30a hsa-miR-3622b-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SETD5
    Predesigned siRNA for gene silencing in human, mouse, rat SETD5
    Clone
    Products:
         
    OriGene clones in human, mouse for SETD5 (see all 7)
    OriGene ORF clones in mouse, rat for SETD5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SETD5 (NM_001080517)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SETD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETD5
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SETD5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SETD5
      QuantiTect SYBR Green Assays in human, mouse, rat SETD5
      QuantiFast Probe-based Assays in human, mouse, rat SETD5

    Additional mRNA sequence: 

    AB051544.1 AK001569.1 AK024384.1 AK025478.1 AK091393.1 AK092046.1 AK094975.1 AK127298.1 
    AK289529.1 AL442073.1 BC012558.1 BC020956.1 BX648380.1 CR627408.1 

    Selected DOTS entries (see all 37):

    DT.95350318  DT.100822442  DT.452334  DT.92068010  DT.97764709  DT.120868852  DT.100037304  DT.102834842 
    DT.95128385  DT.40269771  DT.91660762  DT.120868742  DT.95110206  DT.100822443  DT.91763374  DT.95168535 
    DT.95168543  DT.95216042  DT.100037307  DT.40278194  DT.432162  DT.91763378  DT.95168540  DT.95168542 

    Selected AceView cDNA sequences (see all 280):

    BQ884021 AI982653 BX282389 BM712823 BM718956 CD724284 AU117260 AI803768 
    BQ324543 AI937463 AI797985 AA322491 BU789478 AI697187 BU171143 AI669247 
    BE501340 AK127298 AW002733 BQ071133 BX648380 AI095786 H80913 AI564380 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SETD5 (see all 13)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^
    SP1:                                                  -                                                                       -                                 
    SP2:                                                  -                 -                                                     -                                 
    SP3:                    -                             -                 -                                                     -                                 
    SP4:                    -     -     -                                   -                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 17 ^ 18 ^ 19a · 19b · 19c · 19d ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b ^ 27
    SP1:                                -     -                                               -           -         
    SP2:                                -     -                                               -           -         
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                -                                                                           


    ECgene alternative splicing isoforms for SETD5

    (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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    SETD5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCCTGGGA
    SETD5 Expression
    About this image


    SETD5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)
             Stem Bronchi
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Thyroid (Endocrine System)
    SETD5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SETD5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.288164
        Pathway & Disease-focused RT2 Profiler PCR Array including SETD5: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SETD5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SETD5
    QuantiTect SYBR Green Assays in human, mouse, rat SETD5
    QuantiFast Probe-based Assays in human, mouse, rat SETD5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD5

    (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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    This gene was present in the common ancestor of animals.

    Orthologs for SETD5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Setd51 , 5 SET domain containing 51, 5 91.97(n)1
    93.82(a)1
      6 (52.73 cM)5
    728951  NM_028385.11  NP_082661.11 
     1130773655 
    chicken
    (Gallus gallus)
    Aves SETD51 SET domain containing 5 73.16(n)
    74.59(a)
      416046  NM_001278017.1  NP_001264946.1 
    lizard
    (Anolis carolinensis)
    Reptilia SETD56
    SET domain containing 5
    64(a)
    1 ↔ 1
    2(190718553-190783194)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ629956.12   -- 79.47(n)    BJ629956.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM070595.12   -- 76.09(n)    BM070595.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90076
    --
    4(a)
    1 → many
    3L(13995227-14013248)
    worm
    (Caenorhabditis elegans)
    Secernentea set-96
    set-266
    (see all 4)
    Protein SET-26 (set-26) mRNA, complete cds
    (see all 4)
    7(a)
    7(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    IV(4307896-4317260) WBGene00017482
    IV(16647125-16655833) WBGene00013106


    ENSEMBL Gene Tree for SETD5 (if available)
    TreeFam Gene Tree for SETD5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SETD5 gene
    KMT2E2  
    3 SIMAP similar genes for SETD5 using alignment to 9 protein entries:     SETD5_HUMAN (see all proteins):
    DKFZp686A20205    MLL5    KMT2E

    Find genes that share paralogs with SETD5           About GenesLikeMe



    (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 SETD5 (see all 1626)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs622462751,2
    C,F--9441180(+) CCAAAA/TATTCT 1 -- int17Minor allele frequency- T:0.13NA WA CSA 248
    rs1922613241,2
    --9441336(+) GGCTTG/TCAAAA 1 -- int10--------
    rs1847019101,2
    --9441405(+) TTTGGG/TAAATG 1 -- int10--------
    rs1151638501,2
    C,F--9441430(+) AAAAGG/ACCTTG 1 -- int11Minor allele frequency- A:0.04WA 118
    rs339405361,2
    C--9441512(+) GGTCC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs731158041,2
    C,F--9441542(+) AAGGAG/TTGGGG 1 -- int13Minor allele frequency- T:0.18NA WA 124
    rs1995502721,2
    --9441584(+) TGGAT-/CACAGGG 1 -- int10--------
    rs339254191,2
    C--9441587(+) ATCAC-/A/AG  
            
    GGGTG
    1 -- int11NA 2
    rs563243681,2
    C,F--9441719(+) GCTGCA/TGGGAG 1 -- int11Minor allele frequency- T:0.03NA 120
    rs22511661,2
    C,F,O,A,H--9441737(+) TAGGCA/GATGGC 1 -- int125Minor allele frequency- G:0.26NS EA NA WA 2546

    HapMap Linkage Disequilibrium report for SETD5 (9439299 - 9520924 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SETD5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675276CNV Deletion23128226
    nsv3692CNV Insertion18451855
    nsv527954CNV Loss19592680
    dgv277n21CNV Loss19592680
    nsv821981CNV Loss20364138
    nsv237037CNV Loss16902084

    Human Gene Mutation Database (HGMD): SETD5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SETD5
    DNA2.0 Custom Variant and Variant Library Synthesis for SETD5

    (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.)
    About This Section

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    2 diseases for SETD5:    
    About MalaCards
    intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency    mental retardation, autosomal dominant 23


    Find genes that share disorders with SETD5           About GenesLikeMe


    Export disorders for SETD5 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 SETD5 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with SETD5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (Nature 2006)
    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. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    7. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    8. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

    (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)
    About This Section

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    Entrez Gene: 55209 HGNC: 25566 AceView: FLJ10707 Ensembl:ENSG00000168137 euGenes: HUgn55209
    ECgene: SETD5 H-InvDB: SETD5

    (According to HUGE)
    About This Section

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    HUGE: KIAA1757

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SETD5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SETD5 gene:
    Search GeneIP for patents involving SETD5

    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, LSBio, eBioscience, 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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