| 1306229 | Setbp1 | SET binding protein 1 | ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN chromatin remodeling (inferred); ASSOCIATED WITH atrial heart septal defect (ortholog); atypical chronic myeloid leukemia, BCR-ABL1 negative (ortholog); autosomal dominant intellectual developmental disorder 29 (ortholog); FOUND IN nuclear body (ortholog); nuclear membrane (ortholog); nucleoplasm (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; bisphenol A | 18 | 74465616 | 74827455 | Rat | 125 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1314725 | SETBP1 | SET binding protein 1 | This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] | 18 | 44680073 | 45068510 | Human | 375 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1314726 | Setbp1 | SET binding protein 1 | Predicted to enable histone H3K4 methyltransferase activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in cytosol and nuclear body. Predicted to be active in nucleoplasm. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in Schinzel Giedion syndrome and autosomal dominant intellectual developmental disorder 29. Orthologous to human SETBP1 (SET binding protein 1). [provided by Alliance of Genome Resources, Jul 2025] | 18 | 78793593 | 79153659 | Mouse | 130 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8907434 | Setbp1 | SET binding protein 1 | ASSOCIATED WITH atrial heart septal defect (ortholog); atypical chronic myeloid leukemia, BCR-ABL1 negative (ortholog); autosomal dominant intellectual developmental disorder 29 (ortholog); FOUND IN nuclear body (ortholog); nucleoplasm (ortholog); nucleus (ortholog) | NW_004955402 | 30380346 | 30738869 | Chinchilla | 28 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11819339 | SETBP1 | SET binding protein 1 | ENCODES a protein that exhibits DNA binding (inferred); histone H3K4 methyltransferase activity (inferred); INVOLVED IN chromatin remodeling (inferred); regulation of DNA-templated transcription (inferred); ASSOCIATED WITH atrial heart septal defect (ortholog); atypical chronic myeloid leukemia, BCR -ABL1 negative (ortholog); autosomal dominant intellectual developmental disorder 29 (ortholog); FOUND IN nuclear body (inferred); nuclear membrane (inferred); nucleoplasm (inferred) | 18 | 37963089 | 38350092 | Bonobo | 35 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12115500 | SETBP1 | SET binding protein 1 | ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN chromatin remodeling (inferred); ASSOCIATED WITH atrial heart septal defect (ortholog); atypical chronic myeloid leukemia, BCR-ABL1 negative (ortholog); autosomal dominant intellectual developmental disorder 29 (ortholog); FOUND IN nuclear body (inferred); nuclear membrane (inferred); nucleoplasm (inferred) | 7 | 46020892 | 46378867 | Dog | 35 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12702523 | Setbp1 | SET binding protein 1 | ENCODES a protein that exhibits DNA binding (inferred); histone H3K4 methyltransferase activity (inferred); INVOLVED IN chromatin remodeling (inferred); regulation of DNA-templated transcription (inferred); ASSOCIATED WITH atrial heart septal defect (ortholog); atypical chronic myeloid leukemia, BCR -ABL1 negative (ortholog); autosomal dominant intellectual developmental disorder 29 (ortholog); FOUND IN nuclear body (inferred); nuclear membrane (inferred); nucleoplasm (inferred) | NW_004936517 | 1616169 | 1798002 | Squirrel | 35 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 20867411 | SETBP1 | SET binding protein 1 | | | | | Green Monkey | | symbol | gene, protein-coding |
| 13887387 | SETBP1 | SET binding protein 1 | ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN chromatin remodeling (inferred); ASSOCIATED WITH atrial heart septal defect (ortholog); atypical chronic myeloid leukemia, BCR-ABL1 negative (ortholog); autosomal dominant intellectual developmental disorder 29 (ortholog); FOUND IN nuclear body (inferred); nuclear membrane (inferred); nucleoplasm (inferred) | | | | Pig | 35 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18508086 | SETBP1 | SET binding protein 1 | ENCODES a protein that exhibits DNA binding (inferred); histone H3K4 methyltransferase activity (inferred); INVOLVED IN chromatin remodeling (inferred); regulation of DNA-templated transcription (inferred); ASSOCIATED WITH atrial heart septal defect (ortholog); atypical chronic myeloid leukemia, BCR -ABL1 negative (ortholog); autosomal dominant intellectual developmental disorder 29 (ortholog); FOUND IN nuclear body (ortholog) | | | | Green Monkey | 32 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155246893 | setbp1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 625888969 | Setbp1 | SET binding protein 1 | ASSOCIATED WITH atrial heart septal defect (ortholog); atypical chronic myeloid leukemia, BCR-ABL1 negative (ortholog); autosomal dominant intellectual developmental disorder 29 (ortholog); FOUND IN nuclear body (ortholog); nucleoplasm (ortholog); nucleus (ortholog) | | | | Black Rat | 27 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18914559 | Setbp1 | SET binding protein 1 | ENCODES a protein that exhibits DNA binding (inferred); histone H3K4 methyltransferase activity (inferred); INVOLVED IN chromatin remodeling (inferred); regulation of DNA-templated transcription (inferred); ASSOCIATED WITH atrial heart septal defect (ortholog); atypical chronic myeloid leukemia, BCR -ABL1 negative (ortholog); autosomal dominant intellectual developmental disorder 29 (ortholog); FOUND IN nuclear body (ortholog) | | | | Naked Mole-Rat | 32 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155246892 | setbp1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155257562 | setbp1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 18937070 | SETBP1-DT | SETBP1 divergent transcript | INTERACTS WITH okadaic acid | 18 | 44676931 | 44679872 | Human | 1 | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |