Setbp1 MGI Mouse Gene Detail - MGI:1933199

Symbol

Setbp1
Name

SET binding protein 1
Synonyms

mKIAA0437, Seb

Feature Type

protein coding gene
IDs

MGI:1933199
NCBI Gene: 240427
Alliance

genome feature page
Transcription Start Sites

18 TSS

Sequence Map

Chr18:78793595-79152606 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 52.67 cM, cytoband E3
Mapping Data

1 experiment

SNPs within 2kb

11218 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1933199	protein coding gene	Chr18:78793593-79153659 (-)
129S1/SvImJ	ENSMUSG00200026709	protein coding gene	Chr18:76026711-76380162 (-)
A/J	ENSMUSG00195004816	protein coding gene	Chr18:76077495-76436567 (-)
AKR/J	ENSMUSG00220017269	protein coding gene	Chr18:76019273-76378242 (-)
BALB/cJ	ENSMUSG00180012844	protein coding gene	Chr18:76647872-77006928 (-)
C3H/HeJ	ENSMUSG00175011843	protein coding gene	Chr18:76203850-76563130 (-)
C57BL/6NJ	ENSMUSG00215015786	protein coding gene	Chr18:75562576-75921880 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022429	protein coding gene	Chr18:75036540-75392146 (-)
CAST/EiJ	ENSTCUG00005027986	protein coding gene	Chr18:75089707-75441584 (-)
CBA/J	ENSMUSG00210034686	protein coding gene	Chr18:76161075-76520362 (-)
DBA/2J	ENSMUSG00185011087	protein coding gene	Chr18:76066020-76425352 (-)
FVB/NJ	ENSMUSG00205013927	protein coding gene	Chr18:75680389-76040294 (-)
JF1/MsJ	ENSUMUG00000033723	protein coding gene	Chr18:75985412-76339072 (-)
LP/J	ENSMUSG00230012500	protein coding gene	Chr18:78133109-78486539 (-)
NOD/ShiLtJ	ENSMUSG00190021976	protein coding gene	Chr18:75824031-76183323 (-)
NZO/HlLtJ	ENSMUSG00225033624	protein coding gene	Chr18:77998611-78358248 (-)
PWK/PhJ	ENSLUMG00010006469	protein coding gene	Chr18:76371167-76724577 (-)
SPRET/EiJ	ENSMSPG00010007989	protein coding gene	Chr18:76687915-77047323 (-)
WSB/EiJ	ENSIUOG00005007263	protein coding gene	Chr18:75562352-75915114 (-)

Human Ortholog

SETBP1, SET binding protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SETBP1, SET binding protein 1
Synonyms

MRD29, SEB
Links

HGNC:15573

NCBI Gene ID: 26040

UniProt: Q9Y6X0
Chr Location

18q12.3; chr18:44680073-45068510 (+) GRCh38

MGI Vertebrate Homology

Setbp1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SETBP1
Gene Tree

Setbp1

Diseases

2 with human SETBP1 associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 29 IDs autosomal dominant intellectual developmental disorder 29 DOID:0070059 OMIM:616078
				Schinzel Giedion syndrome IDs Schinzel Giedion syndrome DOID:0070509 MESH:C536632 NCI:C129308 OMIM:269150 ORDO:798 UMLS_CUI:C0265227

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Endonuclease-mediated

4
Targeted

6
Transposon induced

1
Genomic Mutations

1 involving Setbp1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

91 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

15
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

651
Tissues

45
cDNA Data

42
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA SETBP1

Xenbase setbp1

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All Sequences

36
RefSeq

2
UniProt

1
CCDS

CCDS29362.2

Ensembl

ENSMUSG00000024548 (Evidence)
NCBI Gene

240427

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024548	Ensembl Gene Model \| MGI Sequence Detail	359012	C57BL/6J	± kb
transcript	ENSMUST00000025430	Ensembl \| MGI Sequence Detail	9953	Not Applicable
polypeptide	ENSMUSP00000025430	Ensembl \| MGI Sequence Detail	1582	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000014718 SET-binding protein

(term hierarchy)
InterPro Domains

IPR017956 AT hook, DNA-binding motif

IPR063694 SET-binding protein/ASH1L
GlyGen

Q9Z180 9 sites, 1 O-linked glycan (6 sites)

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All nucleic 45

cDNA 42

Primer pair 1

Other 2

Microarray probesets 2

Summaries

All 48

Developmental Gene Expression 3

Gene Ontology 7

Phenotypes 14
Earliest

J:67956 Minakuchi M, et al., Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. Eur J Biochem. 2001 Mar;268(5):1340-51
Latest

J:381024 Howard MA, et al., Behavioral and Prefrontal Circuit Deficits in a Newly Developed Setbp1 Haploinsufficiency Mouse Model. Biol Psychiatry Glob Open Sci. 2026 Mar;6(2):100666

TSS for Setbp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr153997	Chr18:79153198-79153229 (-)	-608 bp
Tssr153996	Chr18:79153171-79153192 (-)	-576 bp
Tssr153995	Chr18:79153153-79153168 (-)	-555 bp
Tssr153994	Chr18:79153079-79153096 (-)	-482 bp
Tssr153993	Chr18:79153053-79153068 (-)	-455 bp
Tssr153992	Chr18:79152634-79152725 (-)	-74 bp
Tssr153991	Chr18:79152505-79152535 (-)	86 bp
Tssr153990	Chr18:79122874-79122878 (-)	29,730 bp
Tssr153989	Chr18:79109950-79109963 (-)	42,649 bp
Tssr153988	Chr18:79104269-79104274 (-)	48,334 bp
Tssr153987	Chr18:79076572-79076586 (-)	76,027 bp
Tssr153986	Chr18:79064375-79064377 (-)	88,230 bp
Tssr153985	Chr18:79058395-79058409 (-)	94,204 bp
Tssr153984	Chr18:79052839-79052870 (-)	99,751 bp
Tssr153983	Chr18:79006548-79006553 (-)	146,055 bp
Tssr153982	Chr18:78955436-78955438 (-)	197,169 bp
Tssr153981	Chr18:78911083-78911086 (-)	241,521 bp
Tssr153980	Chr18:78903086-78903089 (-)	249,518 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/01/2026 MGI 6.24