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Aliases for LBH Gene

Aliases for LBH Gene

  • Limb Bud And Heart Development 2 3 5
  • HLBH 3 4
  • Limb Bud And Heart Development Homolog (Mouse) 2
  • Limb Bud And Heart Development Homolog 3
  • Protein LBH 3

External Ids for LBH Gene

Previous GeneCards Identifiers for LBH Gene

  • GC02P030371
  • GC02P030561
  • GC02P030428
  • GC02P030366
  • GC02P030454
  • GC02P030192

Summaries for LBH Gene

GeneCards Summary for LBH Gene

LBH (Limb Bud And Heart Development) is a Protein Coding gene.

UniProtKB/Swiss-Prot for LBH Gene

  • Transcriptional activator which may act in mitogen-activated protein kinase signaling pathway.

Gene Wiki entry for LBH Gene

Additional gene information for LBH Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LBH Gene

Genomics for LBH Gene

Regulatory Elements for LBH Gene

Enhancers for LBH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H030286 1.5 Ensembl ENCODE dbSUPER 20.4 +57.7 57661 4 HNRNPUL1 PKNOX1 FOXA2 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 LBH SNORA10B LOC102723594 GC02P030258
GH02H030407 1.4 FANTOM5 Ensembl ENCODE 18.5 +179.4 179372 7 BCOR CTCF TAL1 JUN ZMYM3 CEBPG NFXL1 RAD21 FOSL1 ZNF316 LBH SNORA10B LCLAT1 LINC01936 YPEL5 ENSG00000280154
GH02H030250 1.6 Ensembl ENCODE dbSUPER 11.9 +24.0 23973 10 HDGF PKNOX1 ARNT SIN3A ZNF766 CBX5 FOS REST SMARCB1 ZNF592 LBH GC02P030258
GH02H030299 1.1 Ensembl ENCODE dbSUPER 16.6 +69.7 69736 2 JUND POLR2A POU5F1 SIN3A FOS REST RCOR1 LBH SNORA10B LOC102723594 LINC01936
GH02H030264 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +34.9 34862 4 NR3C1 NR2F2 CHAMP1 GABPA CC2D1A ZFHX2 ZNF316 JUND NCOR1 EGR1 SNORA10B LBH YPEL5 GC02P030258 LOC102723594
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LBH on UCSC Golden Path with GeneCards custom track

Promoters for LBH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114787 769 3401 ATF1 SIN3A ZNF2 ZNF121 GLIS2 ZNF143 ZNF207 ATF7 RUNX3 SP3

Genomic Location for LBH Gene

Chromosome:
2
Start:
30,231,531 bp from pter
End:
30,323,730 bp from pter
Size:
92,200 bases
Orientation:
Plus strand

Genomic View for LBH Gene

Genes around LBH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LBH Gene

Proteins for LBH Gene

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

    Protein Symbol:
    Q53QV2-LBH_HUMAN
    Recommended name:
    Protein LBH
    Protein Accession:
    Q53QV2
    Secondary Accessions:
    • B2RBC2
    • Q9H0Q1

    Protein attributes for LBH Gene

    Size:
    105 amino acids
    Molecular mass:
    12217 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LBH Gene

Post-translational modifications for LBH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LBH Gene

No data available for DME Specific Peptides for LBH Gene

Domains & Families for LBH Gene

Gene Families for LBH Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LBH Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LBH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53QV2

UniProtKB/Swiss-Prot:

LBH_HUMAN :
  • Belongs to the LBH family.
Family:
  • Belongs to the LBH family.
genes like me logo Genes that share domains with LBH: view

Function for LBH Gene

Molecular function for LBH Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator which may act in mitogen-activated protein kinase signaling pathway.

Phenotypes From GWAS Catalog for LBH Gene

genes like me logo Genes that share phenotypes with LBH: view

Animal Models for LBH Gene

MGI Knock Outs for LBH:
  • Lbh tm1.2Kbri

Animal Model Products

CRISPR Products

miRNA for LBH Gene

miRTarBase miRNAs that target LBH

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LBH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LBH Gene

Localization for LBH Gene

Subcellular locations from UniProtKB/Swiss-Prot for LBH Gene

Nucleus. Cytoplasm.

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 LBH gene
Compartment Confidence
nucleus 4
extracellular 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LBH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with LBH: view

Pathways & Interactions for LBH Gene

No Data Available

Interacting Proteins for LBH Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000378733%0d%0a9606.ENSP00000227251%0d%0a
Selected Interacting proteins: Q53QV2-LBH_HUMAN ENSP00000378733 for LBH Gene via IID STRING

Gene Ontology (GO) - Biological Process for LBH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0010468 regulation of gene expression IMP,IEA 21810271
GO:0030193 regulation of blood coagulation IMP 21810271
genes like me logo Genes that share ontologies with LBH: view

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

Drugs & Compounds for LBH Gene

(11) Drugs for LBH Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1993
Panobinostat Approved, Investigational Pharma Histone deacetylase (HDAC)inhibitors 136
Prednisone Approved, Vet_approved Pharma 1436
Anti-Inflammatory Agents Pharma 11061
Antimitotic Agents Pharma 5782
genes like me logo Genes that share compounds with LBH: view

Transcripts for LBH Gene

Unigene Clusters for LBH Gene

Limb bud and heart development:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LBH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for LBH Gene

GeneLoc Exon Structure for
LBH
ECgene alternative splicing isoforms for
LBH

Expression for LBH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LBH Gene

This gene is overexpressed in Fetal Brain (18.7), Peripheral blood mononuclear cells (11.4), CD4 Tcells (10.5), Blymphocyte (7.2), and CD8 Tcells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LBH Gene



Protein tissue co-expression partners for LBH Gene

NURSA nuclear receptor signaling pathways regulating expression of LBH Gene:

LBH

SOURCE GeneReport for Unigene cluster for LBH Gene:

Hs.567598

mRNA Expression by UniProt/SwissProt for LBH Gene:

Q53QV2-LBH_HUMAN
Tissue specificity: Highly expressed in heart, and expressed at low levels in placenta, lung, skeletal muscle, kidney and liver.

Evidence on tissue expression from TISSUES for LBH Gene

  • Nervous system(4.8)
  • Kidney(4.3)
  • Lung(2.5)
  • Heart(2.2)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with LBH: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LBH Gene

Orthologs for LBH Gene

This gene was present in the common ancestor of chordates.

Orthologs for LBH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LBH 33 34
  • 99.68 (n)
rat
(Rattus norvegicus)
Mammalia Lbh 33
  • 90.79 (n)
cow
(Bos Taurus)
Mammalia LBH 33 34
  • 89.84 (n)
mouse
(Mus musculus)
Mammalia Lbh 33 16 34
  • 89.21 (n)
dog
(Canis familiaris)
Mammalia LBH 33 34
  • 87.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LBH 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LBH 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves LBH 33 34
  • 78.73 (n)
lizard
(Anolis carolinensis)
Reptilia LBH 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lbh 33
  • 79.08 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:66337 33
  • 73.11 (n)
LBH 34
  • 57 (a)
OneToOne
-- 33
Species where no ortholog for LBH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LBH Gene

ENSEMBL:
Gene Tree for LBH (if available)
TreeFam:
Gene Tree for LBH (if available)

Paralogs for LBH Gene

(1) SIMAP similar genes for LBH Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with LBH: view

No data available for Paralogs for LBH Gene

Variants for LBH Gene

Sequence variations from dbSNP and Humsavar for LBH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000034126 -- 30,233,416(+) AACCA(C/T)ACAAT intron-variant
rs1000130248 -- 30,235,633(+) GTCTA(A/G)GTTGA intron-variant
rs1000172708 -- 30,258,542(+) GTGGG(C/T)GTGGT utr-variant-3-prime
rs1000347231 -- 30,252,991(+) ACTTT(G/T)GGGAA intron-variant
rs1000383568 -- 30,253,280(+) AGATA(A/G)GATTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2759035 CNV gain 17122850
esv34904 CNV gain 17911159
esv3590194 CNV gain 21293372
nsv2662 CNV deletion 18451855

Variation tolerance for LBH Gene

Residual Variation Intolerance Score: 46.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.97; 49.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LBH Gene

Human Gene Mutation Database (HGMD)
LBH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LBH

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

Disorders for LBH Gene

Relevant External Links for LBH

Genetic Association Database (GAD)
LBH
Human Genome Epidemiology (HuGE) Navigator
LBH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LBH

No disorders were found for LBH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LBH Gene

Publications for LBH Gene

  1. A human homolog of mouse Lbh gene, hLBH, expresses in heart and activates SRE and AP-1 mediated MAPK signaling pathway. (PMID: 17390236) Ai J … Wu X (Molecular biology reports 2008) 3 4 22 60
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 60
  3. Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. (PMID: 21810271) Antoni G … Tregouet DA (BMC medical genetics 2011) 3 45 60
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 45 60
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 60

Products for LBH Gene

Sources for LBH Gene

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