LHX3 (LIM homeobox 3)

2003-02-01  

Identity

HGNC
LHX3
LOCATION
9q34.3
LOCUSID
8022
ALIAS
CPHD3,LIM3,M2-LHX3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8022
MIM: 600577
HGNC: 6595
Ensembl: ENSG00000107187

Variants:

dbSNP: 8022
ClinVar: 8022
TCGA: ENSG00000107187
COSMIC: LHX3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107187ENST00000371746Q9UBR4
ENSG00000107187ENST00000371746F1T0D9
ENSG00000107187ENST00000371748Q9UBR4
ENSG00000107187ENST00000371748F1T0D5
ENSG00000107187ENST00000619587F1T0D7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
201899362010A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.47
201899362010A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.47
152718742004Regulation of the follicle-stimulating hormone beta gene by the LHX3 LIM-homeodomain transcription factor.33
185839622008Implementing the LIM code: the structural basis for cell type-specific assembly of LIM-homeodomain complexes.31
173273812007Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.26
184079192008Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.25
163940812006Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.23
166139902006The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter.22
114707842001An isoform-specific inhibitory domain regulates the LHX3 LIM homeodomain factor holoprotein and the production of a functional alternate translation form.20
191266292009A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations.19

Citation

Dessen P

LHX3 (LIM homeobox 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41151/lhx3