protein
SET-binding protein
aka SEB
Gene
SETBP1
Organism
Homo sapiens(9606)
Length
1596 aa
Mass
175,008 Da
# SET-binding protein (SETBP1) Summary
SET-binding protein, encoded by the SETBP1 gene, is a 1596-amino acid protein of 175 kDa in humans (UniProt: Q9Y6X0). While its specific molecular function is not detailed in the available data, SETBP1 has been implicated in multiple disease processes spanning developmental and hematologic domains.
SETBP1 mutations are associated with several neurodevelopmental and hematologic disorders. These include Schinzel-Giedion midface retraction syndrome (SGMFS), characterized by severe intellectual disability, distinctive facial features, skeletal abnormalities, and increased tumor prevalence; Intellectual Developmental Disorder Autosomal Dominant 29 (MRD29), presenting with severe intellectual disability, behavioral difficulties, and speech/motor delays; and a spectrum of myeloid malignancies including myelodysplastic syndrome, juvenile myelomonocytic leukemia, acute myelogenous leukemia, and atypical chronic myeloid leukemia (UniProt: Q9Y6X0).
SETBP1 is classified by the SFARI database as a syndromic autism-associated gene (SFARI Cat S). This designation reflects its association with neurodevelopmental phenotypes that frequently co-occur with autism spectrum disorder within syndromic presentations, particularly in cases of severe intellectual disability.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Disease associations
Schinzel-Giedion midface retraction syndromeSGMFS
A disorder characterized by severe intellectual disability, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia.
Myelodysplastic syndromeMDS
A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).
Intellectual developmental disorder, autosomal dominant 29MRD29
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features.
Leukemia, acute myelogenousAML
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.
Leukemia, chronic myeloid, atypicalACML
A myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss.
Leukemia, juvenile myelomonocyticJMML
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Sources
Last updated 5/6/2026, 5:24:27 AM