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    LUC7L2 LUC7 like 2, pre-mRNA splicing factor [ Homo sapiens (human) ]

    Gene ID: 51631, updated on 10-Jun-2024

    Summary

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    Official Symbol
    LUC7L2provided by HGNC
    Official Full Name
    LUC7 like 2, pre-mRNA splicing factorprovided by HGNC
    Primary source
    HGNC:HGNC:21608
    See related
    Ensembl:ENSG00000146963 MIM:613056; AllianceGenome:HGNC:21608
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGI-59; CGI-74; LUC7B2
    Summary
    This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
    Expression
    Ubiquitous expression in thyroid (RPKM 34.6), bone marrow (RPKM 32.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LUC7L2 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (139340472..139423454)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (140653753..140736749)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (139025218..139108200)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18693 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:138916940-138917199 Neighboring gene ribosomal protein L37a pseudogene 5 Neighboring gene ubinuclein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:138979320-138979488 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:138992956-138994155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139004261-139005211 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:139010799-139010978 Neighboring gene RNA, U6 small nuclear 206, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139026059-139026626 Neighboring gene FMC1-LUC7L2 readthrough Neighboring gene tRNA-Arg (anticodon CCT) 4-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26760 Neighboring gene formation of mitochondrial complex V assembly factor 1 homolog Neighboring gene MPRA-validated peak6781 silencer Neighboring gene uncharacterized LOC100129148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139111514-139112150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139136252-139137140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139137141-139138027 Neighboring gene killer cell lectin like receptor G2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139138916-139139802 Neighboring gene RNA, U6 small nuclear 911, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:139146664-139147433 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139150055-139150776 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:139152221-139152942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139153665-139154386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139154387-139155106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139164064-139164564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139164565-139165065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26763 Neighboring gene ST13, Hsp70 interacting protein pseudogene 17

    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. Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS. Jourdain AA, et al. Mol Cell, 2021 May 6. PMID 33852893, Free PMC Article
    2. Identification of novel reference genes using multiplatform expression data and their validation for quantitative gene expression analysis. Kwon MJ, et al. PLoS One, 2009 Jul 7. PMID 19584937, Free PMC Article
    3. Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms. Daniels NJ, et al. Cell Rep, 2021 Apr 13. PMID 33852859, Free PMC Article
    4. Recurrent genetic defects on chromosome 7q in myeloid neoplasms. Hosono N, et al. Leukemia, 2014 Jun. PMID 24429498, Free PMC Article
    5. The U1 snRNP-associated factor Luc7p affects 5' splice site selection in yeast and human. Puig O, et al. Nucleic Acids Res, 2007. PMID 17726058, Free PMC Article

    See all (138) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Histone H3K9 Lactylation Confers Temozolomide Resistance in Glioblastoma via LUC7L2-Mediated MLH1 Intron Retention.
      Title: Histone H3K9 Lactylation Confers Temozolomide Resistance in Glioblastoma via LUC7L2-Mediated MLH1 Intron Retention.
    2. Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms.
      Title: Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms.
    3. Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.
      Title: Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.
    4. Loss of LUC7L2 is associated with myeloid neoplasms.
      Title: Recurrent genetic defects on chromosome 7q in myeloid neoplasms.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify putative RNA-binding protein Luc7-like 2 (LUC7L2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify putative RNA-binding protein Luc7-like 2 (LUC7L2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify putative RNA-binding protein Luc7-like 2 (LUC7L2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify putative RNA-binding protein Luc7-like 2 (LUC7L2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough FMC1-LUC7L2

    Readthrough gene: FMC1-LUC7L2, Included gene: FMC1

    Homology

    Clone Names

    • FLJ10657

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splice site recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of U1 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type prespliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    putative RNA-binding protein Luc7-like 2
    Names
    LUC7-like 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.

    Genomic

    1. NG_030012.1 RefSeqGene

      Range
      24516..88076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244585.2 → NP_001231514.1  putative RNA-binding protein Luc7-like 2 isoform 3

      See identical proteins and their annotated locations for NP_001231514.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK298166, BC017163
      Consensus CDS
      CCDS59085.1
      UniProtKB/TrEMBL
      B3KSL5
      Related
      ENSP00000441604.1, ENST00000541170.7
      Conserved Domains (1) summary
      pfam03194
      Location:14 → 238
      LUC7; LUC7 N_terminus

    2. NM_001270643.2 → NP_001257572.1  putative RNA-binding protein Luc7-like 2 isoform 4

      See identical proteins and their annotated locations for NP_001257572.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      BC017163, BC042625, HY018775
      Consensus CDS
      CCDS59510.1
      UniProtKB/TrEMBL
      B3KSL5
      Related
      ENSP00000483438.1, ENST00000619796.4
      Conserved Domains (1) summary
      pfam03194
      Location:26 → 240
      LUC7; LUC7 N_terminus

    3. NM_016019.5 → NP_057103.2  putative RNA-binding protein Luc7-like 2 isoform 1

      See identical proteins and their annotated locations for NP_057103.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC017163, HY018775
      Consensus CDS
      CCDS43656.1
      UniProtKB/Swiss-Prot
      B7Z500, Q8IUP9, Q9NVL3, Q9NVN7, Q9UQN1, Q9Y383
      UniProtKB/TrEMBL
      B3KSL5
      Related
      ENSP00000347005.4, ENST00000354926.9
      Conserved Domains (1) summary
      pfam03194
      Location:5 → 241
      LUC7; LUC7 N_terminus

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      139340472..139423454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      140653753..140736749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y383.2 GenPept UniProtKB/Swiss-Prot:Q9Y383

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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