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

Gene ID: 8079, updated on 5-Mar-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 transcription, DNA-templated. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 67.7), prostate (RPKM 51.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12p13.31
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6747996..6753141, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6757561..6762706, complement)
105.20220307 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
  • 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. 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
  3. 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
  4. cDNA cloning, tissue distribution, and chromosomal localization of myelodysplasia/myeloid leukemia factor 2 (MLF2). Kuefer MU, et al. Genomics, 1996 Jul 15. PMID 8661158
  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 (90) 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 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_2023_10

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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