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

MLLT4 Gene

protein-coding   GIFtS: 65
GCID: GC06P168227

Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog,...

(Previous names: myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)...)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog,
Drosophila); Translocated To, 41 2
     Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila)
Homolog); Translocated To, 41
AF62 3 5     RP3-431P23.32
Protein AF-62 3     afadin2
ALL1-Fused Gene From Chromosome 6 Protein2 3     

External Ids:    HGNC: 71371   Entrez Gene: 43012   Ensembl: ENSG000001303967   OMIM: 1595595   UniProtKB: P551963   

Export aliases for MLLT4 gene to outside databases

Previous GC identifers: GC06M167426 GC06P167949 GC06P167985 GC06P168046 GC06P165693


(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 MLLT4 Gene:
This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during
embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene,
involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript
variants encoding different isoforms have been described for this gene, however, not all have been fully
characterized.(provided by RefSeq, May 2011)

GeneCards Summary for MLLT4 Gene: 
MLLT4 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4) is a protein-coding gene. Diseases associated with MLLT4 include acute myeloid leukemia with t translocation, and acute lymphoblastic leukemia, and among its related super-pathways are Cell-cell junction organization and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein C-terminus binding and cell adhesion molecule binding. An important paralog of this gene is SAMD14.

UniProtKB/Swiss-Prot: AFAD_HUMAN, P55196
Function: Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role
in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and
actin-filament-binding protein that connects nectin to the actin cytoskeleton

Gene Wiki entry for MLLT4 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_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MLLT4 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMLLT4 promoter sequence
   Search SABiosciences Chromatin IP Primers for MLLT4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLLT4


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

Entrez Gene cytogenetic band: 6q27   Ensembl cytogenetic band:  6q27   HGNC cytogenetic band: 6q27

MLLT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLLT4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P168227:  view genomic region     (about GC identifiers)

Start:
168,227,602 bp from pter      End:
168,372,703 bp from pter
Size:
145,102 bases      Orientation:
plus 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: AFAD_HUMAN, P55196 (See protein sequence)
Recommended Name: Afadin  
Size: 1824 amino acids; 206804 Da
Subunit: Homodimer. Interacts with F-actin, nectin and PVRL3/nectin-3. Essential for the association of nectin and
E-cadherin. Isoform 1/s-afadin does not interact with F-actin. Interacts with ZO-1 and occludin, but probably in
an indirect manner. Interacts with RIT1 and RIT2 (By similarity). Interacts with NRXN1 and BCR
Subcellular location: Cell junction, adherens junction. Note=Not found at cell-matrix AJs
Sequence caution: Sequence=CAB82312.1; Type=Frameshift; Positions=1509, 1512, 1701;
4 PDB 3D structures from and Proteopedia for MLLT4:
1T2M (3D)        1XZ9 (3D)        2AIN (3D)        2EXG (3D)    
Secondary accessions: O75087 O75088 O75089 Q59FP0 Q5TIG6 Q5TIG7 Q9NSN7 Q9NU92
Alternative splicing: 6 isoforms:  P55196-4   P55196-2   P55196-1   P55196-3   P55196-6   P55196-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MLLT4: NX_P55196

Explore proteomics data for MLLT4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55196

  • MLLT4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MLLT4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035089.1  NP_001193937.1  

    ENSEMBL proteins: 
     ENSP00000383626   ENSP00000341118   ENSP00000252692   ENSP00000375956   ENSP00000383625  
     ENSP00000404595   ENSP00000383623   ENSP00000414675   ENSP00000426462   ENSP00000421441  
     ENSP00000424188   ENSP00000423035   ENSP00000422166   ENSP00000355771   ENSP00000375960  
    Reactome Protein details: P55196
    Human Recombinant Protein Products for MLLT4: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MLLT4 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--

    MLLT4 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
    5/6 InterPro protein domains (see all 6):
     IPR008984 SMAD_FHA_domain
     IPR018444 Dil_domain
     IPR002710 Dilute
     IPR000159 Ras-assoc
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry P55196

    ProtoNet protein and cluster: P55196

    4 Blocks protein domains:
    IPB000159 RA domain
    IPB000253 Forkhead-associated (FHA)
    IPB001478 PDZ/DHR/GLGF domain
    IPB002710 Dilute (DIL) domain


    UniProtKB/Swiss-Prot: AFAD_HUMAN, P55196
    Domain: The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminus domain interacts
    with F-actin
    Similarity: Contains 1 dilute domain
    Similarity: Contains 1 FHA domain
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 2 Ras-associating domains


    MLLT4 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: AFAD_HUMAN, P55196
    Function: Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role
    in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and
    actin-filament-binding protein that connects nectin to the actin cytoskeleton

         Genatlas biochemistry entry for MLLT4:
    GTP-Ha-Ras binding cytoplasmic protein AF-6,fused with HRX (MLL),in acute myeloid leukemia,with translocation
    t(6;11)(q27;q23) in a VNTR rich region (see TSG6C)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17491594
    GO:0008022protein C-terminus binding TAS10856295
    GO:0050839cell adhesion molecule binding IEA--
         
    MLLT4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MLLT4:
     Upregulation of Wnt/beta-caten 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mllt4):
     cardiovascular system  embryogenesis  growth/size  mortality/aging  nervous system 

    MLLT4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MLLT4: Mllt4tm1Mrcr Mllt4tm1Ytk

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MLLT4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MLLT4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MLLT4 
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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 MLLT4 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell-cell junction organization
    Cell-cell junction organization0.69
    Cell-Cell communication0.64
    Cell junction organization0.69
    Adherens junctions interactions0.51
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    3Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Endothelial cell contacts by junctional mechanisms0.97
    4EphB-EphrinB Signaling
    Ephrin-Eph Signaling0.58
    5Cell adhesion Cadherin-mediated cell adhesion
    Cell adhesion Cadherin-mediated cell adhesion1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for MLLT4
        Cell adhesion Tight junctions
    Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Cadherin-mediated cell adhesion

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MLLT4
        Sertoli-Sertoli Cell Junction Dynamics
    Ephrin-Eph Signaling
    Epithelial Tight Junctions
    Germ Cell-Sertoli Cell Junction Dynamics
    Epithelial Adherens Junctions

    1 Cell Signaling Technology (CST) Pathway for MLLT4
        Adhesion

    3 GeneGo (Thomson Reuters) Pathways for MLLT4
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Tight junctions
    Cell adhesion Cadherin-mediated cell adhesion

    4        Reactome Pathways for MLLT4
        Adherens junctions interactions
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization


    3         Kegg Pathways  (Kegg details for MLLT4):
        Adherens junction
    Tight junction
    Leukocyte transendothelial migration


    MLLT4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MLLT4

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

    5/77 Interacting proteins for MLLT4 (P551962, 3 ENSP000003836234) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PVRL3Q9NQS32, 3, ENSP000004180704MINT-73129 MINT-58417 MINT-58408 MINT-73128 I2D: score=2 STRING: ENSP00000418070
    PVRL2Q926922, 3, ENSP000002524834MINT-58420 MINT-58186 MINT-58419 I2D: score=2 STRING: ENSP00000252483
    LMO2P257912, 3, ENSP000002578184MINT-16706 MINT-16707 I2D: score=3 STRING: ENSP00000257818
    MRASO148072, 3, ENSP000002891044MINT-15307 MINT-15308 I2D: score=2 STRING: ENSP00000289104
    EPHB2P293232, 3, ENSP000003637634MINT-58184 I2D: score=5 STRING: ENSP00000363763
    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:0007155cell adhesion IEA--
    GO:0007165signal transduction IEA--
    GO:0007267cell-cell signaling TAS8242616
    GO:0034329cell junction assembly TAS--
    GO:0034332adherens junction organization TAS--

    MLLT4 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

    MLLT4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MLLT4 (AFAD)

    1 DrugBank Compound for MLLT4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (5R)-2-SULFANYL-5-[4-(TRIFLUOROMETHYL)BENZYL]-1,3-THIAZOL-4-ONE-- --target--10592235

    2 Novoseek inferred chemical compound relationships for MLLT4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 25.3 6 17971444 (1), 19887591 (1)
    calcium 0 1 10583506 (1)

    Search CenterWatch for drugs/clinical trials and news about MLLT4 / AFAD

    (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 MLLT4 gene (4 alternative transcripts): 
    NM_001040000.2  NM_001207008.1  NM_001040001.1  NM_005936.2  

    Unigene Cluster for MLLT4:

    Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
    Hs.614974  [show with all ESTs]
    Unigene Representative Sequence: NM_001040000
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000400825 ENST00000344191(uc003qwb.1) ENST00000351017 ENST00000392108(uc003qwc.2)
    ENST00000400824 ENST00000366809 ENST00000447894 ENST00000400822(uc021zik.1 uc021zim.1)
    ENST00000423229(uc003qwf.3) ENST00000503021 ENST00000511637(uc003qwg.1)
    ENST00000497596 ENST00000507679 ENST00000509296 ENST00000507704 ENST00000476946
    ENST00000485634 ENST00000515794

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    Additional mRNA sequence: 

    AB209420.1 AB621809.1 AF085836.1 AK055689.1 AK091815.1 AL161973.1 BC014505.1 BX649158.1 
    DQ387206.1 U02478.1 

    22 DOTS entries:

    DT.416708  DT.91681622  DT.92434854  DT.86857228  DT.100033596  DT.307131  DT.95222151  DT.92016672 
    DT.92434873  DT.95373845  DT.121321580  DT.75193246  DT.91652276  DT.92038220  DT.100667193  DT.121321582 
    DT.311481  DT.86845998  DT.87046030  DT.95311230  DT.95361714  DT.75109442 

    17 AceView cDNA sequences:

    AI261345 AI497759 AA927364 AB016898 CR600303 BX495366 AI914466 BG197963 
    AK091690 BV195201 AW304129 AL535687 BX451476 CF994622 AW175690 BE672874 
    BE463898 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for MLLT4 (see all 21)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18a · 18b ^
    SP1:                                                                          -                 -                                                               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b · 28c ^ 29a · 29b · 29c ^ 30a · 30b ^ 31a · 31b ^ 32 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                  -                                                                                                         
    SP4:                                                  -                                                                                                         
    SP5:                                                  -                                                                                                         

    ExUns: 33a · 33b · 33c ^ 34 ^ 35a · 35b ^ 36a · 36b
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for MLLT4

    (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

    MLLT4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MLLT4 Expression
    About this image


    See MLLT4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MLLT4

    SOURCE GeneReport for Unigene cluster: Hs.614974
        SABiosciences Expression via Pathway-Focused PCR Arrays including MLLT4: 
              Adherens Junctions in human mouse rat
              Tight Junctions in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MLLT4 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mllt41 , 5 myeloid/lymphoid or mixed-lineage leukemia (trithorax more1, 5 86.88(n)1
    92.71(a)1
      17 (8.95 cM)5
    173561  NM_010806.11  NP_034936.11 
     137605395 
    chicken
    (Gallus gallus)
    Aves MLLT41 myeloid/lymphoid or mixed-lineage leukemia (trithorax more 80.44(n)
    89.67(a)
      421564  XM_419605.3  XP_419605.3 
    lizard
    (Anolis carolinensis)
    Reptilia MLLT46
    Uncharacterized protein
    80(a)
    1 ↔ 1
    1(224949666-225058970)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.225282 Xenopus laevis transcribed sequence with moderate similarity more 82.28(n)    BX845938.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mllt41 myeloid/lymphoid or mixed-lineage leukemia (trithorax more 70.84(n)
    78.29(a)
      558359  XM_681563.5  XP_686655.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta cno1 , 3 N receptor signaling pathway actin
    binding3
    canoe1
    51(a)3
    49.04(n)1
    43.61(a)1
      406201  NM_079508.31  NP_524232.21 
    worm
    (Caenorhabditis elegans)
    Secernentea W03F11.6a3   -- 33(a)   I(2160073-2209334)   --


    ENSEMBL Gene Tree for MLLT4 (if available)
    TreeFam Gene Tree for MLLT4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MLLT4 gene
    SAMD142  PPP1R9A2  PPP1R9B2  
    2 SIMAP similar genes for MLLT4 using alignment to 15 protein entries:     AFAD_HUMAN (see all proteins):
    MLL/AF6 fusion    DLG4

    MLLT4 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

    10/3372 SNPs in MLLT4 are shown (see all 3372)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1500442431,2
    --168236835(+) AACACA/TTCACA 2 -- us2k10--------
    rs1443323691,2
    --168236870(+) ACCCGA/GCGTGG 2 -- us2k10--------
    rs1408737931,2
    C--168236919(+) GGTGGA/GGGAGG 2 -- us2k10--------
    rs1447335891,2
    --168237010(+) GTTTCC/GACGTC 2 -- us2k10--------
    rs1478950731,2
    C--168237131(+) TACGTC/GTGCGA 2 -- us2k10--------
    rs1415703061,2
    C--168237190(+) AGACAC/TACAAA 2 -- us2k10--------
    rs1838243021,2
    --168237265(+) CACCCC/GAAGAG 2 -- us2k10--------
    rs1880974191,2
    --168237327(+) ACAACG/TTGTCC 2 -- us2k10--------
    rs1427749431,2
    C--168237390(+) AGGAAA/TCACCC 2 -- us2k10--------
    rs6114401,2
    C--168237471(+) CCCTTC/TGGAGA 2 -- us2k11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for MLLT4 (168227602 - 168372703 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/29 variations for MLLT4 (see all 29):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2572068CNV Deletion19546169
    nsv820650CNV Deletion20802225
    esv2678919CNV Deletion23128226
    esv1558245CNV Deletion17803354
    esv991018CNV Deletion20482838
    dgv27e196CNV Duplication17116639
    esv2422263CNV Duplication17116639
    esv2422479CNV Duplication17116639
    nsv5593CNV Insertion18451855
    nsv509173CNV Insertion20534489

    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: 159559    OMIM disorders: --

    UniProtKB/Swiss-Prot: AFAD_HUMAN, P55196
  • Note=A chromosomal aberration involving MLLT4 is associated with acute leukemias. Translocation
    t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein

  • 14 diseases for MLLT4:    About MalaCards
    acute myeloid leukemia with t translocation    acute lymphoblastic leukemia    lymphoblastic leukemia    leukemia
    acute myeloid leukemia    myeloid leukemia    acute monocytic leukemia    monocytic leukemia
    acute leukemia    herpes simplex    ovarian cancer    endotheliitis
    breast cancer    neuronitis


    MLLT4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for MLLT4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 14.2 4 8703846 (3), 8950979 (1)
    acute leukemia 13.7 1 9334353 (1)
    tumors 4.85 1 16819513 (1)

    Genetic Association Database (GAD): MLLT4
    Human Genome Epidemiology (HuGE) Navigator: MLLT4 (1 document)

    Export disorders for MLLT4 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 MLLT4 gene, integrated from 9 sources (see all 136):
    (articles sorted by number of sources associating them with MLLT4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation. (PubMed id 8242616)1, 2, 3, 9 Prasad R.... Canaani E. (1993)
    2. Nectin and afadin: novel organizers of intercellular junctions. (PubMed id 12456712)1, 2, 9 Takai Y. and Nakanishi H. (2003)
    3. Human nectin3/PRR3: a novel member of the PVR/PRR/nectin family that interacts with afadin. (PubMed id 11024295)1, 2, 9 Reymond N.... Lopez M. (2000)
    4. Complete genomic structure, DNA polymorphisms, and alternative splicing of the human AF-6 gene. (PubMed id 9679199)1, 2, 9 Saito S.... Nakamura Y. (1998)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Solution structure of AF-6 PDZ domain and its interaction with the C- terminal peptides from Neurexin and Bcr. (PubMed id 15684424)1, 2 Zhou H.... Shi Y. (2005)
    7. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    9. The Bcr kinase downregulates Ras signaling by phosphorylating AF-6 and binding to its PDZ domain. (PubMed id 12808105)1, 9 Radziwill G....Moelling K. (2003)
    10. AF-6 controls integrin-mediated cell adhesion by regulating Rap1 activation through the specific recruitment of Rap1GTP and SPA-1. (PubMed id 12590145)1, 9 Su L....Minato N. (2003)

    (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: 4301 HGNC: 7137 AceView: MLLT4.2 Ensembl:ENSG00000130396 euGenes: HUgn4301
    ECgene: MLLT4 Kegg: 4301 H-InvDB: MLLT4

    (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 MLLT4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MLLT4 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 MLLT4 gene:
    Search GeneIP for patents involving MLLT4

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



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