SETD1B

Chr 12q24.31

SET domain containing 1B, histone lysine methyltransferase

Aliases:: KIAA1076, Set1B, KMT2G
MANE:: ENST00000604567.6

OMIM: 611055 ↗NCBI: 23067 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SETD1B · Q9UPS6

v62025-08-01

Predicted Aligned Error matrix for SETD1B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

45.5/ 100

Very low

1,966 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)11%
Low(50–70)6%
Very low(< 50)74%

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
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

intellectual developmental disorder with seizures and language delay
0.78
hereditary disease
0.52
neurodevelopmental disorder
0.45
autosomal dominant non-syndromic intellectual disability
0.37
complex neurodevelopmental disorder
0.37
Abnormality of the skeletal system
0.35
epilepsy
0.28
escherichia coli infection
0.27
Neurodevelopmental delay
0.27
lung adenocarcinoma
0.27

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

Protein function (UniProt)

Histone-lysine N-methyltransferase SETD1B

Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:17355966, PubMed:25561738). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17355966, PubMed:25561738). Plays an essential role in regulating the transcriptional programming of multipotent hematopoietic progenitor cells and lymphoid lineage specification during hematopoiesis (By similarity)