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

Gene ID: 338645, updated on 23-Nov-2021

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
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
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Genomic context

See LUZP2 in Genome Data Viewer
Location:
11p14.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (24496488..25082638)
105.20201022 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 N-acetylneuraminic acid phosphatase pseudogene Neighboring gene ribosomal protein L36a pseudogene 40

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
GeneReviews: Not available
Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
GeneReviews: Not available
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

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_001009909.4NP_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
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    24496488..25082638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017648.2XP_016873137.2  leucine zipper protein 2 isoform X2

    Conserved Domains (2) summary
    cl25732
    Location:146334
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26386
    Location:4152
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  2. XM_017017649.2XP_016873138.2  leucine zipper protein 2 isoform X3

    Conserved Domains (2) summary
    cl25732
    Location:148271
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26386
    Location:4152
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  3. XM_011520056.3XP_011518358.1  leucine zipper protein 2 isoform X4

    See identical proteins and their annotated locations for XP_011518358.1

    Conserved Domains (1) summary
    cl23887
    Location:151250
    DUF4349; Domain of unknown function (DUF4349)

RNA

  1. XR_930864.3 RNA Sequence

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