AlphaFold predicted structure
LHX3 · Q9UBR4
Mean pLDDT
67.2/ 100
Low
397 residues
Confidence breakdown
- Very high(≥ 90)31%
- Confident(70–90)17%
- Low(50–70)10%
- Very low(< 50)42%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LHX3
Chr 9q34.3LIM homeobox 3
- MANE:
- ENST00000371748.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital hypothyroidism
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalPituitary hormone deficiency
BIALLELIC, autosomal or pseudoautosomalHypogonadotropic hypogonadism
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
non-acquired combined pituitary hormone deficiency with spine abnormalities
0.78Combined pituitary hormone deficiencies, genetic forms
0.56neurodegenerative disease
0.49combined pituitary hormone deficiencies, genetic form
0.47atrial fibrillation
0.47sensorineural hearing loss disorder
0.46Sensorineural hearing impairment
0.46Abnormality of the skeletal system
0.44hypothyroidism due to deficient transcription factors involved in pituitary development or function
0.38Abnormal nasolacrimal system morphology
0.31
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
LIM/homeobox protein Lhx3
Transcription factor. Recognizes and binds to the consensus sequence motif 5'-AATTAATTA-3' in the regulatory elements of target genes, such as glycoprotein hormones alpha chain CGA and visual system homeobox CHX10, positively modulating transcription; transcription can be co-activated by LDB2. Synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous system (PubMed:21149718). Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1 (By similarity)