SATB2

SATB homeobox 2

2 disorders 1 untyped 1 no genetic record 2q33.1 gene with protein product

HGNC:21637 Monarch NCBI Gene 23314 ENSG00000119042 UniProt Q9UPW6 OMIM 608148

Aliases: KIAA1034, FLJ21474.

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.

Disorder	Relationship	Where the gene appears
Chromosome 2q32-q33 Deletion Syndrome	untyped Major dosage-sensitive driver gene	mechanism: Contiguous-gene 2q32-q33 haploinsufficiency; SATB2 haploinsufficiency
Developmental Delay, Hypotonia, Musculoskeletal Defects, and Behavioral Abnormalities	no genetic record	mechanism: Reduced Satb2 Expression

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 disease	MOI	Classification	dismech entry
SATB2 associated disorder MONDO:0100147	AD	Definitive 2020-09-15	no dismech entry

Mechanism modules · computed from kb/

projection_neuron_subtype_specification named in the module itself

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