Browse All / Genes / SETD2

SETD2

SET domain containing 2, histone lysine methyltransferase
6 disorders 3 untyped 2 somatic driver 1 causative 3p21.31 gene with protein product
HGNC:18420MonarchNCBI Gene 29072ENSG00000181555UniProt Q9BYW2OMIM 612778

Aliases: HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Gastrointestinal Lymphoma somatic driver somatic
scoped to subtype: Small Intestine
Hepatosplenic T-cell Lymphoma somatic driver
mechanism: Chromatin Modifier Loss of Function
Luscan-Lumish Syndrome causative germline loss of function
mechanism: SETD2 Haploinsufficiency
Chordoma untyped
Somatic Epigenetic Dysregulation
Malignant Peritoneal Mesothelioma untyped
Recurrent Epigenetic Regulator Alteration
Renal Cell Carcinoma untyped
Somatic loss of function
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0035706 AD Strong
2023-10-03
 no dismech entry
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth MONDO:0800477 AD Definitive
2023-10-03
 no dismech entry
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.