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

    Gene ID: 338645, updated on 17-Sep-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45795

    Gene Ontology Provided by GOA

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001009909.4NP_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:65153
      DUF342; Protein of unknown function (DUF342)
      cl23943
      Location:25100
      PCRF; PCRF domain
    2. NM_001252008.2NP_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:5128
      HOOK; HOOK protein
    3. NM_001252010.2NP_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:77154
      DUF342; Protein of unknown function (DUF342)
      cl23943
      Location:25100
      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_047426868.1XP_047282824.1  leucine zipper protein 2 isoform X3

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

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

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

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

    6. XM_017017649.3XP_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_054368621.1XP_054224596.1  leucine zipper protein 2 isoform X1

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

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

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

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

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