Aliases for LBX2 Gene

Aliases for LBX2 Gene

  • Ladybird Homeobox 2 2 3 4 5
  • Ladybird Homeobox Protein Homolog 2 3 4
  • Transcription Factor LBX2 3 4
  • Ladybird Homeobox Homolog 2 (Drosophila) 2
  • Ladybird-Like Homeodomain Protein 2 3
  • Ladybird-Like Homeobox 2 3
  • LP3727 3
  • LBX2 5

External Ids for LBX2 Gene

Previous GeneCards Identifiers for LBX2 Gene

  • GC02U990293
  • GC02M074637
  • GC02M074578
  • GC02M074724
  • GC02M074460

Summaries for LBX2 Gene

GeneCards Summary for LBX2 Gene

LBX2 (Ladybird Homeobox 2) is a Protein Coding gene. Diseases associated with LBX2 include Cataract 34, Multiple Types. An important paralog of this gene is LBX1.

UniProtKB/Swiss-Prot Summary for LBX2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LBX2 Gene

Genomics for LBX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LBX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LBX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LBX2

Top Transcription factor binding sites by QIAGEN in the LBX2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1

Genomic Locations for LBX2 Gene

Latest Assembly
chr2:74,497,517-74,503,316
(GRCh38/hg38)
Size:
5,800 bases
Orientation:
Minus strand

Previous Assembly
chr2:74,724,644-74,730,443
(GRCh37/hg19 by Entrez Gene)
Size:
5,800 bases
Orientation:
Minus strand

chr2:74,724,644-74,730,443
(GRCh37/hg19 by Ensembl)
Size:
5,800 bases
Orientation:
Minus strand

Genomic View for LBX2 Gene

Genes around LBX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LBX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LBX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LBX2 Gene

Proteins for LBX2 Gene

  • Protein details for LBX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6XYB7-LBX2_HUMAN
    Recommended name:
    Transcription factor LBX2
    Protein Accession:
    Q6XYB7
    Secondary Accessions:
    • Q7Z5Y8

    Protein attributes for LBX2 Gene

    Size:
    198 amino acids
    Molecular mass:
    21482 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LBX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LBX2 Gene

Post-translational modifications for LBX2 Gene

No Post-translational modifications

Other Protein References for LBX2 Gene

No data available for DME Specific Peptides for LBX2 Gene

Domains & Families for LBX2 Gene

Gene Families for LBX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for LBX2 Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature
ProtoNet:

Suggested Antigen Peptide Sequences for LBX2 Gene

GenScript: Design optimal peptide antigens:
  • Ladybird homeobox protein homolog 2 (LBX2_HUMAN)
genes like me logo Genes that share domains with LBX2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LBX2 Gene

Function for LBX2 Gene

Molecular function for LBX2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor.

Phenotypes From GWAS Catalog for LBX2 Gene

Gene Ontology (GO) - Molecular Function for LBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI --
GO:1990837 sequence-specific double-stranded DNA binding IBA,IDA 28473536
genes like me logo Genes that share ontologies with LBX2: view
genes like me logo Genes that share phenotypes with LBX2: view

Animal Models for LBX2 Gene

MGI Knock Outs for LBX2:
  • Lbx2 Lbx2<tm1Fchn>

miRNA for LBX2 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LBX2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LBX2 Gene

Localization for LBX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LBX2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LBX2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Midbody (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with LBX2: view

Pathways & Interactions for LBX2 Gene

PathCards logo

SuperPathways for LBX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0042692 muscle cell differentiation ISS --
GO:1904105 positive regulation of convergent extension involved in gastrulation ISS --
GO:2000052 positive regulation of non-canonical Wnt signaling pathway ISS --
genes like me logo Genes that share ontologies with LBX2: view

No data available for Pathways by source and SIGNOR curated interactions for LBX2 Gene

Drugs & Compounds for LBX2 Gene

No Compound Related Data Available

Transcripts for LBX2 Gene

mRNA/cDNA for LBX2 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LBX2

Alternative Splicing Database (ASD) splice patterns (SP) for LBX2 Gene

No ASD Table

Relevant External Links for LBX2 Gene

GeneLoc Exon Structure for
LBX2

Expression for LBX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LBX2 Gene

mRNA differential expression in normal tissues according to GTEx for LBX2 Gene

This gene is overexpressed in Liver (x11.5).

Protein differential expression in normal tissues from HIPED for LBX2 Gene

This gene is overexpressed in Platelet (43.5) and Heart (25.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LBX2 Gene



Protein tissue co-expression partners for LBX2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LBX2

SOURCE GeneReport for Unigene cluster for LBX2 Gene:

Hs.516124
genes like me logo Genes that share expression patterns with LBX2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LBX2 Gene

Orthologs for LBX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LBX2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LBX2 30 31
  • 99.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LBX2 30 31
  • 84.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LBX2 30 31
  • 83.94 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lbx2 30 17 31
  • 79.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lbx2 30
  • 78.12 (n)
Oppossum
(Monodelphis domestica)
Mammalia LBX2 31
  • 57 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii lbx2 31
  • 28 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta lbl 31
  • 15 (a)
ManyToMany
lbe 31
  • 13 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToMany
Species where no ortholog for LBX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LBX2 Gene

ENSEMBL:
Gene Tree for LBX2 (if available)
TreeFam:
Gene Tree for LBX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LBX2: view image

Paralogs for LBX2 Gene

Paralogs for LBX2 Gene

(1) SIMAP similar genes for LBX2 Gene using alignment to 2 proteins:

  • LBX2_HUMAN
  • G3V218_HUMAN
genes like me logo Genes that share paralogs with LBX2: view

Variants for LBX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LBX2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs529167735 Benign: not provided 74,499,487(-) T/A
NM_001282430.2(LBX2):c.51A>T (p.Ala17=)
SYNONYMOUS_VARIANT,INTRON
rs926032243 Likely Benign: not provided 74,498,137(-) C/G
NM_001282430.2(LBX2):c.387G>C (p.Val129=)
SYNONYMOUS
rs17009998 - p.Ser158Phe
rs753669213 - p.Lys139Glu
VAR_083940 - p.Ala171Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LBX2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LBX2 Gene

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781
nsv582215 CNV loss 21841781

Variation tolerance for LBX2 Gene

Residual Variation Intolerance Score: 79.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.32; 85.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LBX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LBX2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LBX2 Gene

Disorders for LBX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LBX2 Gene - From: COP

Disorder Aliases PubMed IDs
cataract 34, multiple types
  • ctrct34
- elite association - COSMIC cancer census association via MalaCards
Search LBX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LBX2

genes like me logo Genes that share disorders with LBX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LBX2 Gene

Publications for LBX2 Gene

  1. Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alström syndrome. (PMID: 11386758) Chen F … Epstein JA (Genomics 2001) 2 3 4
  2. Identification of LBX2 as a novel causal gene of atrial septal defect. (PMID: 29669692) Wang J … Wang B (International journal of cardiology 2018) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Impact of cytosine methylation on DNA binding specificities of human transcription factors. (PMID: 28473536) Yin Y … Taipale J (Science (New York, N.Y.) 2017) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for LBX2 Gene

Sources for LBX2 Gene