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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
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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.

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