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    MLF2 myeloid leukemia factor 2 [ Homo sapiens (human) ]

    Gene ID: 8079, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MLF2provided by HGNC
    Official Full Name
    myeloid leukemia factor 2provided by HGNC
    Primary source
    HGNC:HGNC:7126
    See related
    Ensembl:ENSG00000089693 MIM:601401; AllianceGenome:HGNC:7126
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NTN4
    Summary
    Predicted to be involved in regulation of DNA-templated transcription. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 67.7), prostate (RPKM 51.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MLF2 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6747996..6753141, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6757561..6762706, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6857162..6862307, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 781, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5878 Neighboring gene COP9 signalosome subunit 7A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4182 Neighboring gene parathymosin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6887480-6888130 Neighboring gene lymphocyte activating 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The role of phosphorylation of MLF2 at serine 24 in BCR-ABL leukemogenesis. Yang J, et al. Cancer Gene Ther, 2020 Feb. PMID 31831854
    2. cDNA cloning, tissue distribution, and chromosomal localization of myelodysplasia/myeloid leukemia factor 2 (MLF2). Kuefer MU, et al. Genomics, 1996 Jul 15. PMID 8661158
    3. Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2. Rampello AJ, et al. J Cell Biol, 2020 Jun 1. PMID 32342107, Free PMC Article
    4. Targeting RPL39 and MLF2 reduces tumor initiation and metastasis in breast cancer by inhibiting nitric oxide synthase signaling. Dave B, et al. Proc Natl Acad Sci U S A, 2014 Jun 17. PMID 24876273, Free PMC Article
    5. Modulation of mutant Huntingtin aggregates and toxicity by human myeloid leukemia factors. Banerjee M, et al. Int J Biochem Cell Biol, 2017 Jan. PMID 27840155

    See all (99) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of phosphorylation of MLF2 at serine 24 in BCR-ABL leukemogenesis.
      Title: The role of phosphorylation of MLF2 at serine 24 in BCR-ABL leukemogenesis.
    2. Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2.
      Title: Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2.
    3. CRL4(DCAF8) and USP11 oppositely regulate the stability of myeloid leukemia factors (MLFs).
      Title: CRL4(DCAF8) and USP11 oppositely regulate the stability of myeloid leukemia factors (MLFs).
    4. Mutation in HTT causes Huntington's disease (HD); aggregates of mutated HTT cause apoptosis in neurons of HD patients. Data suggest that both MLF1 and MLF2 preferentially interact with mutated N-terminal HTT; MLF1/MLF2 reduce number of neurons (Neuro2A cell line) containing mutant HTT aggregates and subsequent apoptosis. (HTT = Huntingtin protein; MLF = myeloid leukemia factor)
      Title: Modulation of mutant Huntingtin aggregates and toxicity by human myeloid leukemia factors.
    5. RPL39 and MLF2 have roles in tumor initiation and metastasis in breast cancer that involve nitric oxide synthase signaling
      Title: Targeting RPL39 and MLF2 reduces tumor initiation and metastasis in breast cancer by inhibiting nitric oxide synthase signaling.
    6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    myeloid leukemia factor 2
    Names
    myelodysplasia-myeloid leukemia factor 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001382225.1 → NP_001369154.1  myeloid leukemia factor 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTRs compared to variant 1. Variants 1, 2 and 3, all encode the same protein.
      Source sequence(s)
      AC125494
      Consensus CDS
      CCDS8559.1
      UniProtKB/Swiss-Prot
      Q15773
      UniProtKB/TrEMBL
      A8K1F4, Q5U0N1
      Related
      ENSP00000446317.1, ENST00000539187.5
      Conserved Domains (1) summary
      pfam10248
      Location:26 → 199
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    2. NM_001382226.1 → NP_001369155.1  myeloid leukemia factor 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3, all encode the same protein.
      Source sequence(s)
      AC125494, U57342
      Consensus CDS
      CCDS8559.1
      UniProtKB/Swiss-Prot
      Q15773
      UniProtKB/TrEMBL
      A8K1F4, Q5U0N1
      Related
      ENSP00000203630.5, ENST00000203630.10
      Conserved Domains (1) summary
      pfam10248
      Location:26 → 199
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    3. NM_005439.3 → NP_005430.1  myeloid leukemia factor 2

      See identical proteins and their annotated locations for NP_005430.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript. Variants 1, 2 and 3, all encode the same protein.
      Source sequence(s)
      AK289869, BC002340
      Consensus CDS
      CCDS8559.1
      UniProtKB/Swiss-Prot
      Q15773
      UniProtKB/TrEMBL
      A8K1F4, Q5U0N1
      Related
      ENSP00000403941.1, ENST00000435120.5
      Conserved Domains (1) summary
      pfam10248
      Location:26 → 199
      Mlf1IP; Myelodysplasia-myeloid leukemia factor 1-interacting protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6747996..6753141 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6757561..6762706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15773.1 GenPept UniProtKB/Swiss-Prot:Q15773

    Gene LinkOut

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