# SETD1B

Source: https://onco.cc/targets/setd1b/  
OnCo record `setd1b` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

SETD1B (Histone-lysine N-methyltransferase SETD1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer, Head and neck squamous cell carcinoma, Ovarian cancer and 5 more.

## Summary

Histone methyltransferase that catalyses 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. Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place. Plays an essential role in regulating the transcriptional programming of multipotent haematopoietic progenitor cells and lymphoid lineage specification during haematopoiesis.

CIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 8 cohorts (1 activating, 7 loss-of-function), covering Oesophageal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer, Ovarian Epithelial Tumour, Pancreatic Adenocarcinoma and others.

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: SET domain containing 1B, histone lysine methyltransferase; Histone-lysine N-methyltransferase SETD1B; KIAA1076; Set1B; KMT2G
- Tags: cancer-genes-wave
- Symbol: SETD1B
- Class: transcription
- Biology: Histone methyltransferase that catalyses 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. Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place. Plays an essential role in regulating the transcriptional programming of multipotent haematopoietic progenitor cells and lymphoid lineage specification during haematopoiesis. Location: Nucleus; Nucleus speckle; Chromosome; Cytoplasm (UniProt). Locus 12q24.31 (HGNC).
- Where found: Oesophageal cancer: IntOGen driver in 1 cohort (ESCA); Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC); Ovarian cancer: IntOGen driver in 1 cohort (OVT); Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD); Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD); Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)

## Notes

- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 7 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.

## Sources

- HGNC HGNC:29187: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29187
- UniProt Q9UPS6: https://www.uniprot.org/uniprotkb/Q9UPS6/entry
- NCBI Gene 23067: https://www.ncbi.nlm.nih.gov/gene/23067
- Ensembl ENSG00000139718: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139718

## Connected records

- collections: [CIViC](https://onco.cc/collections/civic/), [IntOGen](https://onco.cc/collections/intogen/)
- cancers: [Bladder & urothelial cancer](https://onco.cc/cancers/urothelial/), [Diffuse large B-cell lymphoma](https://onco.cc/cancers/dlbcl/), [Gastric & gastro-oesophageal junction cancer](https://onco.cc/cancers/gastric/), [Head and neck squamous cell carcinoma](https://onco.cc/cancers/head-and-neck/), [Non-small-cell lung cancer](https://onco.cc/cancers/nsclc/), [Oesophageal cancer](https://onco.cc/cancers/esophageal/), [Ovarian cancer](https://onco.cc/cancers/ovarian/), [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/)

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JSON: https://onco.cc/api/v1/entities/setd1b.json