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

KANSL2 Gene

protein-coding   GIFtS: 43
GCID: GC12M049069

KAT8 regulatory NSL complex subunit 2

(Previous name: chromosome 12 open reading frame 41 )
(Previous symbol: C12orf41)
  Search for KANSL2
in our new
 Human Malady Compendium 
Biological research products
for KANSL2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
KAT8 Regulatory NSL Complex Subunit 21 2     NSL Complex Protein NSL22 3
C12orf411 2 3     FLJ204361
NSL21 2 3     Chromosome 12 Open Reading Frame 411
Non-Specific Lethal 2 Homolog2 3     

External Ids:    HGNC: 260241   Entrez Gene: 549342   Ensembl: ENSG000001396207   UniProtKB: Q9H9L43   

Export aliases for KANSL2 gene to outside databases

Previous GC identifers: GC12M049056 GC12M049062


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: KANL2_HUMAN, Q9H9L4
Function: As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues
and therefore may be involved in the regulation of transcription

Gene Wiki entry for KANSL2 (C12orf41)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KANSL2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KANSL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KANSL2


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

Entrez Gene cytogenetic band: 12q13.11   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.11

KANSL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KANSL2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049069:  view genomic region     (about GC identifiers)

Start:
49,046,994 bp from pter      End:
49,076,035 bp from pter
Size:
29,042 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KANL2_HUMAN, Q9H9L4 (See protein sequence)
Recommended Name: KAT8 regulatory NSL complex subunit 2  
Size: 492 amino acids; 55042 Da
Subunit: Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT,
WDR5 and HCFC1
Subcellular location: Nucleus
Sequence caution: Sequence=AAH09746.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH13900.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91169.1;
Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB14211.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=CAD39126.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: Q8N3B5 Q96CV0 Q9NX51
Alternative splicing: 2 isoforms:  Q9H9L4-1   Q9H9L4-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for KANSL2: NX_Q9H9L4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H9L4

  • KANSL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060292.3  
    ENSEMBL proteins: 
     ENSP00000447093   ENSP00000448131   ENSP00000449747   ENSP00000415436   ENSP00000447608  
     ENSP00000449891   ENSP00000448833   ENSP00000449126   ENSP00000448129   ENSP00000448473  
     ENSP00000446493   ENSP00000350527  

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    Novus Biologicals KANSL2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KANSL2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000123histone acetyltransferase complex IDA--


    KANSL2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KANSL2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR025927 Potential_DNA-bd
     IPR026316 NSL2

    Graphical View of Domain Structure for InterPro Entry Q9H9L4

    ProtoNet protein and cluster: Q9H9L4


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

    Function Summary:

         UniProtKB/Swiss-Prot: KANL2_HUMAN, Q9H9L4
    Function: As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues
    and therefore may be involved in the regulation of transcription

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    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043995contributes to histone acetyltransferase activity (H4-K5 specific) IDA--
    GO:0043996contributes to histone acetyltransferase activity (H4-K8 specific) IDA--
    GO:0046972contributes to histone acetyltransferase activity (H4-K16 specific) IDA--


    KANSL2 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KANSL2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for KANSL2 (Q9H9L42, 3 ENSP000004154364) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MCRS1Q96EZ83I2D: score=6 
    MED28Q9H2043I2D: score=5 
    IKBKGENSP000003586224STRING: ENSP00000358622
    MED23ENSP000003570474STRING: ENSP00000357047
    --Q9WMX22MINT-7047502
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043981histone H4-K5 acetylation IDA--
    GO:0043982histone H4-K8 acetylation IDA--
    GO:0043984histone H4-K16 acetylation IDA--


    KANSL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 KANSL2
    Search CenterWatch for drugs/clinical trials and news about KANSL2 / KANL2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KANSL2 gene: 
    NM_017822.3  

    Unigene Cluster for KANSL2:

    KAT8 regulatory NSL complex subunit 2
    Hs.505412  [show with all ESTs]
    Unigene Representative Sequence: NM_017822
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548147 ENST00000546701(uc001rry.2) ENST00000550347(uc001rrw.2 uc001rrz.2 uc001rrx.2)
    ENST00000420613 ENST00000549463 ENST00000548701 ENST00000547087 ENST00000549574
    ENST00000553086 ENST00000547582 ENST00000547536 ENST00000550931 ENST00000550870
    ENST00000548254 ENST00000548304 ENST00000357861

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK022732.1 AL834467.1 BC009746.2 BC013900.2 

    11 DOTS entries:

    DT.409230  DT.100776471  DT.100776469  DT.100776466  DT.95117603  DT.65286599  DT.100776468  DT.100684027 
    DT.97776335  DT.97816613  DT.97824603 

    18 AceView cDNA sequences:

    BM051376 NM_017822 CR616133 BC009746 BC013900 AL834467 CR606255 BX104898 
    CR617830 AK094528 BG315272 AK000443 AK022732 BQ322426 AW503587 BI038625 
    BQ304086 AW748091 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for KANSL2 (see all 11)    About this scheme

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

    ExUns: 15f
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for KANSL2

    (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

    KANSL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATAGAAATC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See KANSL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KANSL2

    SOURCE GeneReport for Unigene cluster: Hs.505412
        SABiosciences Custom PCR Arrays for KANSL2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KANSL2

    (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 KANSL2 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kansl21 , 5 RIKEN cDNA 2310037I24 gene5
    KAT8 regulatory NSL complex subunit 21
    89.64(n)1
    95.68(a)1
      15 (54.52 cM)5
    696121  NM_133714.41  NP_598475.21 
     985191015 
    chicken
    (Gallus gallus)
    Aves KANSL21 KAT8 regulatory NSL complex subunit 2 75.22(n)
    86.38(a)
      426401  XM_003643557.1  XP_003643605.1 
    lizard
    (Anolis carolinensis)
    Reptilia C12orf416
    --
    80(a)
    1 ↔ 1
    2(94573063-94585670)
    African clawed frog
    (Xenopus laevis)
    Amphibia flj20436-prov2 hypothetical protein MGC52525 76.5(n)    BC044061.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb75c022 wufb75c02 72.18(n)   322858  BG985686.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dgt11 dim gamma-tubulin 1 47.53(n)
    42.9(a)
      43529  NM_143480.3  NP_651737.1 


    ENSEMBL Gene Tree for KANSL2 (if available)
    TreeFam Gene Tree for KANSL2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KANSL2 gene
    INO80D2  

    KANSL2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KANSL2
    PGOHUM00000243279


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

    10/565 NCBI SNPs in KANSL2 are shown (see all 565    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs118381211,2
    C,F,H,--49046526(+) TCTTAT/CAGAAA 1 -- int19Minor allele frequency- C:0.03NS EA NA CSA WA 616
    rs1822266931,2
    --49046648(+) CAAAAC/TGATCT 1 -- int10--------
    rs1129511761,2
    --49046676(+) GTCTAC/TCTTAG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs118350401,2
    C,F,H,--49046768(+) TTTTTT/AAAAAA 1 -- int14Minor allele frequency- A:0.11NA WA 124
    rs118373371,2
    C,F,H,--49046815(+) TCACCA/GCATTG 1 -- int111Minor allele frequency- G:0.03NS EA NA WA CSA 517
    rs1464811521,2
    --49046853(+) CAAGTA/GATCCG 1 -- int10--------
    rs786286651,2
    F,--49046894(+) ACAGGC/TGTAAG 1 -- int11Minor allele frequency- T:0.07NA 120
    rs744516781,2
    --49047001(+) TGGAAC/TTGATG 1 -- ut310--------
    rs1450527661,2
    --49047121(+) ACTTCC/TCTTTC 1 -- ut310--------
    rs1388141121,2
    --49047268(+) TTACTA/GTATTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KANSL2 (49046994 - 49076035 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KANSL2: --
    Human Gene Mutation Database (HGMD): KANSL2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KANSL2
    DNA2.0 Custom Variant and Variant Library Synthesis for KANSL2

    (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

    KANSL2 for disorders           About MalaCards

    KANSL2 for disorders           About GeneDecksing


    Export disorders for KANSL2 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 KANSL2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with KANSL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Subunit composition and substrate specificity of a MO F-containing histone acetyltransferase distinct from the male-specific lethal ( MSL) complex. (PubMed id 20018852)1, 2 Cai Y....Conaway R.C. (2010)
    2. Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila. (PubMed id 16543150)1, 2 Mendjan S....Akhtar A. (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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    10. Males absent on the first (MOF): from flies to humans. (PubMed id 17694080)1 Rea S....Akhtar A. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54934 HGNC: 26024 AceView: FLJ20436 Ensembl:ENSG00000139620 euGenes: HUgn54934
    ECgene: KANSL2 H-InvDB: KANSL2

    (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 KANSL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KANSL2 gene:
    Search GeneIP for patents involving KANSL2

    GeneCards and IP:
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