LHX4 (LIM homeobox 4)

2003-02-01  

Identity

HGNC
LOCATION
1q25.2
LOCUSID
ALIAS
CPHD4
FUSION GENES

Other Information

Locus ID:

NCBI: 89884
MIM: 602146
HGNC: 21734
Ensembl: ENSG00000121454

Variants:

dbSNP: 89884
ClinVar: 89884
TCGA: ENSG00000121454
COSMIC: LHX4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121454ENST00000263726Q969G2
ENSG00000121454ENST00000263726A0A0S2Z5S4
ENSG00000121454ENST00000561113H0YKF4

Expression (GTEx)

0
1
2
3
4
5
6

References

Pubmed IDYearTitleCitations
115672162001Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.27
180733112008Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.25
79130171994Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival.24
212701122011Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.18
184456752008A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.15
176679402008The C terminus of the synovial sarcoma-associated SSX proteins interacts with the LIM homeobox protein LHX4.13
219652702011Downregulation of alpha-fetoprotein expression by LHX4: a critical role in hepatocarcinogenesis.13
205347632010Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.12
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
155677262004Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.10

Citation

Dessen P

LHX4 (LIM homeobox 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41152/lhx4