Aliases for MLLT6 Gene

Aliases for MLLT6 Gene

  • MLLT6, PHD Finger Containing 2 3 5
  • AF17 2 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia, Translocated To, 6 2 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia; Translocated To, 6 2 3
  • ALL1-Fused Gene From Chromosome 17 Protein 3 4
  • MLLT6, PHD Finger Domain Containing 2 3
  • Trithorax Homolog 2 3
  • Protein AF-17 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog); Translocated To, 6 2
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 6 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog); Translocated To, 6 3
  • FLJ23480 2
  • MLLT6 5

External Ids for MLLT6 Gene

Previous GeneCards Identifiers for MLLT6 Gene

  • GC17P036347
  • GC17P038855
  • GC17P036772
  • GC17P037236
  • GC17P034115
  • GC17P036861
  • GC17P032658

Summaries for MLLT6 Gene

GeneCards Summary for MLLT6 Gene

MLLT6 (MLLT6, PHD Finger Containing) is a Protein Coding gene. Diseases associated with MLLT6 include Pineal Region Germinoma and Malignant Pineal Area Germ Cell Neoplasm. An important paralog of this gene is MLLT10.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MLLT6 Gene

Genomics for MLLT6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MLLT6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLLT6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MLLT6

Top Transcription factor binding sites by QIAGEN in the MLLT6 gene promoter:
  • ATF
  • HSF1short
  • NF-1
  • NF-1/L
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Pax-5
  • YY1
  • ZIC2

Genomic Locations for MLLT6 Gene

Latest Assembly
chr17:38,705,273-38,729,795
(GRCh38/hg38)
Size:
24,523 bases
Orientation:
Plus strand

Previous Assembly
chr17:36,861,526-36,886,048
(GRCh37/hg19 by Entrez Gene)
Size:
24,523 bases
Orientation:
Plus strand

Genomic View for MLLT6 Gene

Genes around MLLT6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLLT6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLLT6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLLT6 Gene

Proteins for MLLT6 Gene

  • Protein details for MLLT6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55198-AF17_HUMAN
    Recommended name:
    Protein AF-17
    Protein Accession:
    P55198
    Secondary Accessions:
    • Q59F28
    • Q96IU3
    • Q9H5F6
    • Q9UF49

    Protein attributes for MLLT6 Gene

    Size:
    1093 amino acids
    Molecular mass:
    112048 Da
    Quaternary structure:
    • Interacts with histone H3; interaction is necessary for MLLT6 binding to nucleosomes; interaction is inhibited by histone H3 'Lys-27' methylations (H3K27me1, H3K27me2 and H3K27me3).
    SequenceCaution:
    • Sequence=AAH07237.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15670.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for MLLT6 Gene

Post-translational modifications for MLLT6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MLLT6 Gene

No data available for DME Specific Peptides for MLLT6 Gene

Domains & Families for MLLT6 Gene

Gene Families for MLLT6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for MLLT6 Gene

InterPro:
Blocks:
  • Zn-finger-like, PHD finger
ProtoNet:

Suggested Antigen Peptide Sequences for MLLT6 Gene

GenScript: Design optimal peptide antigens:
  • ALL1-fused gene from chromosome 17 protein (AF17_HUMAN)
  • MLLT6 protein (Q6P2C6_HUMAN)
  • MLLT6 protein (Q96I32_HUMAN)
genes like me logo Genes that share domains with MLLT6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MLLT6 Gene

Function for MLLT6 Gene

Molecular function for MLLT6 Gene

GENATLAS Biochemistry:
AF-17 protein,fused with HRX (MLL),in acute lymphoblastic leukemia and monoblastic leukemia with granulocytic sarcomas,with translocation t(11;17)(q23;q21),may be the same as TCF11

Phenotypes From GWAS Catalog for MLLT6 Gene

Gene Ontology (GO) - Molecular Function for MLLT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16713569
GO:0031491 nucleosome binding IDA 26439302
GO:0042393 histone binding IPI 26439302
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MLLT6: view
genes like me logo Genes that share phenotypes with MLLT6: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLLT6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MLLT6 Gene

Localization for MLLT6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLLT6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MLLT6 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MLLT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with MLLT6: view

Pathways & Interactions for MLLT6 Gene

PathCards logo

SuperPathways for MLLT6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MLLT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003014 renal system process IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 8058765
GO:0007588 excretion IEA --
GO:0010765 positive regulation of sodium ion transport IEA --
GO:0035811 negative regulation of urine volume IEA --
genes like me logo Genes that share ontologies with MLLT6: view

No data available for Pathways by source and SIGNOR curated interactions for MLLT6 Gene

Drugs & Compounds for MLLT6 Gene

No Compound Related Data Available

Transcripts for MLLT6 Gene

mRNA/cDNA for MLLT6 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLLT6

Alternative Splicing Database (ASD) splice patterns (SP) for MLLT6 Gene

No ASD Table

Relevant External Links for MLLT6 Gene

GeneLoc Exon Structure for
MLLT6

Expression for MLLT6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MLLT6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Uterus (Reproductive System)
  • Spleen (Hematopoietic System)
  • Ovary (Reproductive System)

Protein differential expression in normal tissues from HIPED for MLLT6 Gene

This gene is overexpressed in Brain (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MLLT6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MLLT6

SOURCE GeneReport for Unigene cluster for MLLT6 Gene:

Hs.91531

Evidence on tissue expression from TISSUES for MLLT6 Gene

  • Intestine(4.6)
  • Skin(4.4)
  • Spleen(4.4)
  • Nervous system(3.8)
  • Lung(2.6)
  • Kidney(2.4)
  • Muscle(2.3)
  • Bone marrow(2.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with MLLT6: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MLLT6 Gene

Orthologs for MLLT6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MLLT6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MLLT6 30
  • 99.83 (n)
Dog
(Canis familiaris)
Mammalia MLLT6 30
  • 92.78 (n)
Cow
(Bos Taurus)
Mammalia MLLT6 30
  • 92.31 (n)
Mouse
(Mus musculus)
Mammalia Mllt6 30 17
  • 88.47 (n)
Rat
(Rattus norvegicus)
Mammalia Mllt6 30
  • 88.33 (n)
Chicken
(Gallus gallus)
Aves MLLT6 30
  • 69.9 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mllt6 30
  • 63.16 (n)
Worm
(Caenorhabditis elegans)
Secernentea zfp-1 32
  • 60 (a)
Species where no ortholog for MLLT6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for MLLT6 Gene

ENSEMBL:
Gene Tree for MLLT6 (if available)
TreeFam:
Gene Tree for MLLT6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MLLT6: view image

Paralogs for MLLT6 Gene

Paralogs for MLLT6 Gene

(10) SIMAP similar genes for MLLT6 Gene using alignment to 5 proteins:

  • AF17_HUMAN
  • E9PEP1_HUMAN
  • J3KSE4_HUMAN
  • Q6P2C6_HUMAN
  • Q96I32_HUMAN
genes like me logo Genes that share paralogs with MLLT6: view

Variants for MLLT6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MLLT6 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs146464000 Benign: not provided 38,711,996(+) C/T
NM_005937.4(MLLT6):c.702C>T (p.His234=)
SYNONYMOUS
rs56858873 Benign: not provided 38,707,806(+) A/G
NM_005937.4(MLLT6):c.288A>G (p.Gln96=)
SYNONYMOUS
rs17855918 - p.Ala33Val
rs2241012 - p.Ala198Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MLLT6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MLLT6 Gene

Variant ID Type Subtype PubMed ID
esv21810 CNV gain 19812545
nsv1071381 CNV deletion 25765185
nsv1126456 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv470585 CNV loss 18288195
nsv833438 CNV loss 17160897
nsv953894 CNV deletion 24416366

Variation tolerance for MLLT6 Gene

Residual Variation Intolerance Score: 8.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.49; 55.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLLT6 Gene

Human Gene Mutation Database (HGMD)
MLLT6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MLLT6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLLT6 Gene

Disorders for MLLT6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MLLT6 Gene - From: COP

Disorder Aliases PubMed IDs
pineal region germinoma
  • pineal germinoma
malignant pineal area germ cell neoplasm
  • malignant pineal parenchymal germ cell tumor
liddle syndrome 1
  • lidls1
- elite association - COSMIC cancer census association via MalaCards
Search MLLT6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AF17_HUMAN
  • Note=A chromosomal aberration involving MLLT6 is associated with acute leukemias. Translocation t(11;17)(q23;q21) with KMT2A/MLL1. The result is a rogue activator protein.

Additional Disease Information for MLLT6

genes like me logo Genes that share disorders with MLLT6: view

No data available for Genatlas for MLLT6 Gene

Publications for MLLT6 Gene

  1. Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia. (PMID: 8058765) Prasad R … Canaani E (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4
  2. The PZP Domain of AF10 Senses Unmodified H3K27 to Regulate DOT1L-Mediated Methylation of H3K79. (PMID: 26439302) Chen S … Gozani O (Molecular cell 2015) 3 4
  3. Af17 deficiency increases sodium excretion and decreases blood pressure. (PMID: 21546577) Chen L … Zhang W (Journal of the American Society of Nephrology : JASN 2011) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for MLLT6 Gene

Sources for MLLT6 Gene