LHX2

Chr 9q33.3

LIM homeobox 2

Aliases:: LH-2, hLhx2
MANE:: ENST00000373615.9

OMIM: 603759 ↗NCBI: 9355 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

LHX2 · P50458

v62025-08-01

Predicted Aligned Error matrix for LHX2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.6/ 100

Low

406 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)17%
Low(50–70)10%
Very low(< 50)44%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe microcephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.54
neurodevelopmental disorder
0.51
hair color
0.49
complex neurodevelopmental disorder
0.42
type 2 diabetes mellitus
0.33
alcohol drinking
0.31
ankylosing spondylitis
0.31
adolescent idiopathic scoliosis
0.12
non-small cell lung carcinoma
0.10
nasopharyngeal carcinoma
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

LIM/homeobox protein Lhx2

Acts as a transcriptional activator. Stimulates the promoter of the alpha-glycoprotein gene. Transcriptional regulatory protein involved in the control of cell differentiation in developing lymphoid and neural cell types (By similarity)