Szt2 MGI Mouse Gene Detail - MGI:3033336 - SZT2 subunit of KICSTOR complex

Symbol

Szt2
Name

SZT2 subunit of KICSTOR complex
Synonyms

MGC:69654, seaizure threshold 2

Feature Type

protein coding gene
IDs

MGI:3033336
NCBI Gene: 230676
Alliance

genome feature page
Transcription Start Sites

1 TSS

Sequence Map

Chr4:118219940-118266470 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 54.61 cM
Mapping Data

4 experiments

SNPs within 2kb

1021 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3033336	protein coding gene	Chr4:118219937-118266483 (-)
129S1/SvImJ	ENSMUSG00200013224	protein coding gene	Chr4:112119522-112165222 (-)
A/J	ENSMUSG00195027986	protein coding gene	Chr4:113370810-113417371 (-)
AKR/J	ENSMUSG00220018962	protein coding gene	Chr4:112718134-112764662 (-)
BALB/cJ	ENSMUSG00180041478	protein coding gene	Chr4:111438197-111484512 (-)
C3H/HeJ	ENSMUSG00175022976	protein coding gene	Chr4:112452395-112498707 (-)
C57BL/6NJ	ENSMUSG00215037148	protein coding gene	Chr4:113544927-113591459 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026372	protein coding gene	Chr4:108805470-108850941 (-)
CAST/EiJ	ENSTCUG00005021801	protein coding gene	Chr4:112225632-112271950 (-)
CBA/J	ENSMUSG00210051972	protein coding gene	Chr4:112066070-112112381 (-)
DBA/2J	ENSMUSG00185039892	protein coding gene	Chr4:113596321-113642882 (-)
FVB/NJ	ENSMUSG00205023962	protein coding gene	Chr4:111535539-111581848 (-)
JF1/MsJ	ENSUMUG00000004723	protein coding gene	Chr4:113513083-113559609 (-)
LP/J	ENSMUSG00230043459	protein coding gene	Chr4:116935077-116980775 (-)
NOD/ShiLtJ	ENSMUSG00190042859	protein coding gene	Chr4:111433920-111480174 (-)
NZO/HlLtJ	ENSMUSG00225009832	protein coding gene	Chr4:122417080-122463362 (-)
PWK/PhJ	ENSLUMG00010046509	protein coding gene	Chr4:110896072-110942834 (-)
SPRET/EiJ	ENSMSPG00010037123	protein coding gene	Chr4:112986091-113031305 (-)
WSB/EiJ	ENSIUOG00005044684	protein coding gene	Chr4:111751527-111798089 (-)

Human Ortholog

SZT2, SZT2 subunit of KICSTOR complex

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SZT2, SZT2 subunit of KICSTOR complex
Synonyms

C1orf84, DEE18, EIEE18, KIAA0467, KICS1, SZT2A, SZT2B
Links

HGNC:29040

NCBI Gene ID: 23334

UniProt: Q5T011
Chr Location

1p34.2; chr1:43389882-43454247 (+) GRCh38

MGI Vertebrate Homology

Szt2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SZT2
Gene Tree

Szt2

Diseases

1 with human SZT2 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 18 IDs developmental and epileptic encephalopathy 18 DOID:0080413 OMIM:615476

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

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Phenotype Summary

15 phenotypes from 3 alleles in 7 genetic backgrounds
20 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

12
Chemically induced (ENU)

1
Chemically induced (other)

2
Endonuclease-mediated

1
Gene trapped

3
Radiation induced

1
Targeted

4
Genomic Mutations

4 involving Szt2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

94 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for mutations in this gene display increased susceptibility to induced seizures. Mice homozygous for null mutations also display partial penetrance of prenatal lethality.

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All GO Annotations

42
GO References

10

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

626
Tissues

11
cDNA Data

53
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

50
RefSeq

6
UniProt

2
CCDS

CCDS51283.1

Ensembl

ENSMUSG00000033253 (Evidence)
NCBI Gene

230676

			Length	Strain/Species	Flank
genomic	ENSMUSG00000033253	Ensembl Gene Model \| MGI Sequence Detail	46531	C57BL/6J	± kb
transcript	ENSMUST00000075406	Ensembl \| MGI Sequence Detail	10965	Not Applicable
polypeptide	ENSMUSP00000074862	Ensembl \| MGI Sequence Detail	3431	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000031106 KICSTOR complex protein SZT2

(term hierarchy)
InterPro Domains

IPR033228 Protein SZT2
GlyGen

A2A9C3 2 sites

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All nucleic 58

cDNA 53

Primer pair 4

Other 1

Microarray probesets 25

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MGI:2686975, MGI:3708699

Summaries

All 49

Developmental Gene Expression 2

Gene Ontology 10

Phenotypes 20
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Szt2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr43049	Chr4:118266416-118266479 (-)	22 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 09/08/2026 MGI 6.24