• Gene id: 8022

Gene Summary

• Gene Symbol: LHX3   Gene   UCSC   Ensembl
• Aliases: CPHD3, LIM3, M2-LHX3
• Gene name: LIM homeobox 3
• Alternate names: LIM/homeobox protein Lhx3, LIM homeobox protein 3, LIM/homeodomain protein LHX3,
• Gene location: 9q34.3 (136205127: 136196249)     Exons: 9     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutat
• OMIM: 600577

Protein Summary

• Protein general information: Q9UBR4  
  • Name: LIM/homeobox protein Lhx3 (LIM homeobox protein 3)
  • Length: 397  
  • Mass: 43358
• Sequence:

  MLLETGLERDRARPGAAAVCTLGGTREIPLCAGCDQHILDRFILKALDRHWHSKCLKCSDCHTPLAERCFSRGES
  VYCKDDFFKRFGTKCAACQLGIPPTQVVRRAQDFVYHLHCFACVVCKRQLATGDEFYLMEDSRLVCKADYETAKQ
  REAEATAKRPRTTITAKQLETLKSAYNTSPKPARHVREQLSSETGLDMRVVQVWFQNRRAKEKRLKKDAGRQRWG
  QYFRNMKRSRGGSKSDKDSVQEGQDSDAEVSFPDEPSLAEMGPANGLYGSLGEPTQALGRPSGALGNFSLEHGGL
  AGPEQYRELRPGSPYGVPPSPAAPQSLPGPQPLLSSLVYPDTSLGLVPSGAPGGPPPMRVLAGNGPSSDLSTGSS
  GGYPDFPASPASWLDEVDHAQF

• Structural information:
  • Protein Domains: (31..8-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (90..14-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR009057  IPR017970  IPR001356  IPR001781  
  • Prosite: PS00027 PS50071 PS00478 PS50023
  • CDD: cd00086
  • STRING: ENSP00000360811
• Other Databases: GeneCards:  LHX3  Malacards:  LHX3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0001890	placenta development	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0021520	spinal cord motor neuron cell fate specification	IEA	biological process
GO:0021521	ventral spinal cord interneuron specification	IEA	biological process
GO:0021526	medial motor column neuron differentiation	IEA	biological process
GO:0021527	spinal cord association neuron differentiation	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0008045	motor neuron axon guidance	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0048839	inner ear development	IEP	biological process

Diseases

Associated diseases	References
Growth hormone deficiency	KEGG:H00254
Combined pituitary hormone deficiency	KEGG:H02036
Growth hormone deficiency	KEGG:H00254
Combined pituitary hormone deficiency	KEGG:H02036
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881