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    LBX2 ladybird homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 85474, updated on 31-Mar-2024

    Summary

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    Official Symbol
    LBX2provided by HGNC
    Official Full Name
    ladybird homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:15525
    See related
    Ensembl:ENSG00000179528 MIM:607164; AllianceGenome:HGNC:15525
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LP3727
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including muscle cell differentiation; positive regulation of convergent extension involved in gastrulation; and positive regulation of non-canonical Wnt signaling pathway. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver (RPKM 2.5), small intestine (RPKM 1.7) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LBX2 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74497517..74503316, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74506082..74511881, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74724644..74730443, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16065 Neighboring gene tetratricopeptide repeat domain 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74729628-74730252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74730253-74730878 Neighboring gene LBX2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74734085-74735015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16069 Neighboring gene polycomb group ring finger 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74739895-74740563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74742813-74743314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74743315-74743814 Neighboring gene T cell leukemia homeobox 2

    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. Identification of LBX2 as a novel causal gene of lung adenocarcinoma. Hu J, et al. Thorac Cancer, 2020 Aug. PMID 32567804, Free PMC Article
    2. LncRNA LBX2-AS1 facilitates abdominal aortic aneurysm through miR-4685-5p/LBX2 feedback loop. Li H, et al. Biomed Pharmacother, 2020 Sep. PMID 32559617
    3. Identification of LBX2 as a novel causal gene of atrial septal defect. Wang J, et al. Int J Cardiol, 2018 Aug 15. PMID 29669692
    4. Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alström syndrome. Chen F, et al. Genomics, 2001 Jun 1. PMID 11386758
    5. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Histone modification-linked prognostic model for ovarian cancer reveals LBX2 as a novel growth promoter.
      Title: Histone modification-linked prognostic model for ovarian cancer reveals LBX2 as a novel growth promoter.
    2. Identification of LBX2 as a novel causal gene of lung adenocarcinoma.
      Title: Identification of LBX2 as a novel causal gene of lung adenocarcinoma.
    3. LncRNA LBX2-AS1 facilitates abdominal aortic aneurysm through miR-4685-5p/LBX2 feedback loop.
      Title: LncRNA LBX2-AS1 facilitates abdominal aortic aneurysm through miR-4685-5p/LBX2 feedback loop.
    4. LBX2 was identified as a pathogenic gene in Chinese patients with atrial septal defect.
      Title: Identification of LBX2 as a novel causal gene of atrial septal defect.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables sequence-specific double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of convergent extension involved in gastrulation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of non-canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transcription factor LBX2
    Names
    ladybird homeobox protein homolog 2
    ladybird-like homeobox 2
    ladybird-like homeodomain 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.

    mRNA and Protein(s)

    1. NM_001009812.2 → NP_001009812.1  transcription factor LBX2 isoform 2

      See identical proteins and their annotated locations for NP_001009812.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' most exon which results in the use of an alternate AUG compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AY305861
      Consensus CDS
      CCDS33228.1
      UniProtKB/Swiss-Prot
      Q6XYB7
      Related
      ENSP00000417116.2, ENST00000460508.3
      Conserved Domains (1) summary
      pfam00046
      Location:84 → 137
      Homeobox; Homeobox domain

    2. NM_001282430.2 → NP_001269359.1  transcription factor LBX2 isoform 1

      See identical proteins and their annotated locations for NP_001269359.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC005041, AY203953, AY305861, BC150517
      Consensus CDS
      CCDS62938.1
      UniProtKB/Swiss-Prot
      Q6XYB7, Q7Z5Y8
      Related
      ENSP00000366789.4, ENST00000377566.9
      Conserved Domains (1) summary
      pfam00046
      Location:88 → 141
      Homeobox; Homeobox domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      74497517..74503316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74506082..74511881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6XYB7.1 GenPept UniProtKB/Swiss-Prot:Q6XYB7

    Gene LinkOut

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

    Chemical Information
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