• Gene id: 81606

Gene Summary

• Gene Symbol: LBH   Gene   UCSC   Ensembl
• Gene name: LBH regulator of WNT signaling pathway
• Alternate names: protein LBH, hLBH, limb bud and heart development homolog, limb bud and heart development protein homolog,
• Gene location: 2p23.1 (30231533: 30260027)     Exons: 4     NC_000002.12
• OMIM: 611763

Protein Summary

• Protein general information: Q53QV2  
  • Name: Protein LBH (hLBH) (Limb bud and heart development protein homolog)
  • Length: 105  
  • Mass: 12217
  • Tissue specificity: Highly expressed in heart, and expressed at low levels in placenta, lung, skeletal muscle, kidney and liver. {ECO
• Sequence:

  MSIYFPIHCPDYLRSAKMTEVMMNTQPMEEIGLSPRKDGLSYQIFPDPSDFDRCCKLKDRLPSIVVEPTEGEVES
  GELRWPPEEFLVQEDEQDNCEETAKENKEQ

• Structural information:
  • Protein Domains: (18..10-)
    (/note="LBH-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR013294  IPR038990  IPR042945  
  • STRING: ENSP00000378733
• Other Databases: GeneCards:  LBH  Malacards:  LBH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0033147	negative regulation of intracellular estrogen receptor signaling pathway	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:2000103	positive regulation of mammary stem cell proliferation	IEA	biological process
GO:2000737	negative regulation of stem cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0060644	mammary gland epithelial cell differentiation	IEA	biological process
GO:1904674	positive regulation of somatic stem cell population maintenance	IEA	biological process
GO:1904677	positive regulation of somatic stem cell division	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0043408	regulation of MAPK cascade	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)