IMPDH2

Chr 3p21.31

inosine monophosphate dehydrogenase 2

MANE:: ENST00000326739.9

OMIM: 146691 ↗NCBI: 3615 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

IMPDH2 · P12268

v62025-08-01

Predicted Aligned Error matrix for IMPDH2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.1/ 100

Very high

514 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)23%
Low(50–70)2%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

acute lymphoblastic leukemia
0.53
Crohn disease
0.45
multiple sclerosis
0.43
acute myeloid leukemia
0.42
lupus nephritis
0.41
kidney transplant
0.40
myelodysplastic syndrome
0.40
neoplasm
0.39
graft versus host disease
0.39
systemic lupus erythematosus
0.38

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

Protein function (UniProt)

Inosine-5'-monophosphate dehydrogenase 2

Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth (PubMed:7763314, PubMed:7903306). Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism (PubMed:14766016). It may also have a role in the development of malignancy and the growth progression of some tumors