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    LUZP2 leucine zipper protein 2 [ Homo sapiens (human) ]

    Gene ID: 338645, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LUZP2provided by HGNC
    Official Full Name
    leucine zipper protein 2provided by HGNC
    Primary source
    HGNC:HGNC:23206
    See related
    Ensembl:ENSG00000187398 MIM:608178; AllianceGenome:HGNC:23206
    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
    PRO6246; KFSP2566
    Summary
    This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
    Expression
    Biased expression in brain (RPKM 5.0), adrenal (RPKM 1.6) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See LUZP2 in Genome Data Viewer
    Location:
    11p14.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (24497053..25082638)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (24628114..25216277)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (24518599..25104184)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376595 Neighboring gene long intergenic non-protein coding RNA 2686 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:24467451-24468264 Neighboring gene NANOG hESC enhancer GRCh37_chr11:24659075-24659576 Neighboring gene NANOG hESC enhancer GRCh37_chr11:24701323-24702247 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:24718961-24720160 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:24768484-24769683 Neighboring gene NANOG hESC enhancer GRCh37_chr11:24777043-24777544 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:25060809-25060990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:25115650-25116150 Neighboring gene N-acetylneuraminic acid phosphatase pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr11:25509719-25510220 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:25523381-25523976 Neighboring gene long intergenic non-protein coding RNA 2699 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:25600863-25601516 Neighboring gene ribosomal protein L36a pseudogene 40

    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. Downregulation of LUZP2 Is Correlated with Poor Prognosis of Low-Grade Glioma. Li Y, et al. Biomed Res Int, 2020. PMID 32695826, Free PMC Article
    2. Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14. Wu M, et al. Mamm Genome, 2003 May. PMID 12856284
    3. Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene. Cummings AC, et al. Ann Hum Genet, 2012 Sep. PMID 22881374, Free PMC Article
    4. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. Meyer TE, et al. PLoS Genet, 2010 Aug 5. PMID 20700443, Free PMC Article
    5. Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. Benyamin B, et al. Am J Hum Genet, 2009 Jan. PMID 19084217, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of LUZP2 Is Correlated with Poor Prognosis of Low-Grade Glioma.
      Title: Downregulation of LUZP2 Is Correlated with Poor Prognosis of Low-Grade Glioma.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
    EBI GWAS Catalog
    Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
    EBI GWAS Catalog
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ45795

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine zipper protein 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_030588.1 RefSeqGene

      Range
      5084..590669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001009909.4 → NP_001009909.2  leucine zipper protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001009909.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC087373, AK126974, AL832641, BC132829, DA706662
      Consensus CDS
      CCDS31446.1
      UniProtKB/Swiss-Prot
      A2RUB8, E9PN53, Q6UXE7, Q6ZS65, Q86TE4
      Related
      ENSP00000336817.6, ENST00000336930.11
      Conserved Domains (2) summary
      cl19219
      Location:65 → 153
      DUF342; Protein of unknown function (DUF342)
      cl23943
      Location:25 → 100
      PCRF; PCRF domain

    2. NM_001252008.2 → NP_001238937.1  leucine zipper protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences causes translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC087373, AL832641, BC151234, DA706662
      Consensus CDS
      CCDS58128.1
      UniProtKB/Swiss-Prot
      Q86TE4
      Related
      ENSP00000432952.1, ENST00000533227.5
      Conserved Domains (1) summary
      pfam05622
      Location:5 → 128
      HOOK; HOOK protein

    3. NM_001252010.2 → NP_001238939.1  leucine zipper protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC087373, AK309077, AL832641, BC151234, DA706662
      UniProtKB/Swiss-Prot
      Q86TE4
      Conserved Domains (2) summary
      cl19219
      Location:77 → 154
      DUF342; Protein of unknown function (DUF342)
      cl23943
      Location:25 → 100
      PCRF; PCRF domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      24497053..25082638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426868.1 → XP_047282824.1  leucine zipper protein 2 isoform X3

    2. XM_017017648.3 → XP_016873137.3  leucine zipper protein 2 isoform X1

    3. XM_047426870.1 → XP_047282826.1  leucine zipper protein 2 isoform X5

    4. XM_047426869.1 → XP_047282825.1  leucine zipper protein 2 isoform X4

    5. XM_047426871.1 → XP_047282827.1  leucine zipper protein 2 isoform X6

    6. XM_017017649.3 → XP_016873138.3  leucine zipper protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      24628114..25216277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368621.1 → XP_054224596.1  leucine zipper protein 2 isoform X1

    2. XM_054368623.1 → XP_054224598.1  leucine zipper protein 2 isoform X3

    3. XM_054368625.1 → XP_054224600.1  leucine zipper protein 2 isoform X5

    4. XM_054368624.1 → XP_054224599.1  leucine zipper protein 2 isoform X4

    5. XM_054368626.1 → XP_054224601.1  leucine zipper protein 2 isoform X6

    6. XM_054368622.1 → XP_054224597.1  leucine zipper protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TE4.2 GenPept UniProtKB/Swiss-Prot:Q86TE4

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