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

Gene ID: 51631, updated on 7-Apr-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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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. 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.
  2. 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.
  3. 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

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