Gene: LHX3

Alternate names for this Gene: CPHD3|LIM3|M2-LHX3

Gene Summary: 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. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: LIM homeobox 3

Type of Gene: protein-coding

rs2274115 in LHX3 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs12378344 in LHX3 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2274116 in LHX3 gene and Forced expiratory volume function PMID 26635082 2015 Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

rs7860634 in LHX3 gene and Hormone measurement PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

rs104894117 in LHX3 gene and Pituitary Hormone Deficiency, Combined, 3 PMID 10835633 2000 Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

PMID 28302169 2017 Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

PMID 17327381 2007 Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

PMID 18407919 2008 Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.

rs11103379 in LHX3 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7860634 in LHX3 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11103379 in LHX3 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7860634 in LHX3 gene and Thyroid stimulating hormone measurement PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

rs11103377 in LHX3 gene and Thyroxine measurement PMID 25743335 2015 Whole-genome sequence-based analysis of thyroid function.

PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

rs2274116 in LHX3 gene and Vital capacity PMID 26635082 2015 Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.