Sez6 MGI Mouse Gene Detail - MGI:104745

Symbol

Sez6
Name

seizure related gene 6
Synonyms

D11Bhm177e, sez-6

Feature Type

protein coding gene
IDs

MGI:104745
NCBI Gene: 20370
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr11:77821626-77869874 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 46.74 cM
Mapping Data

5 experiments

SNPs within 2kb

91 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104745	protein coding gene	Chr11:77821413-77869878 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018758	protein coding gene	Chr11:78888526-78937694 (+)
A/J	MGP_AJ_G0018724	protein coding gene	Chr11:75883854-75931813 (+)
AKR/J	MGP_AKRJ_G0018694	protein coding gene	Chr11:78192851-78240738 (+)
BALB/cJ	MGP_BALBcJ_G0018698	protein coding gene	Chr11:76279705-76328085 (+)
C3H/HeJ	MGP_C3HHeJ_G0018511	protein coding gene	Chr11:78222655-78271922 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019149	protein coding gene	Chr11:81359269-81407262 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016784	protein coding gene	Chr11:72861738-72909940 (+)
CAST/EiJ	MGP_CASTEiJ_G0018065	protein coding gene	Chr11:78645416-78704814 (+)
CBA/J	MGP_CBAJ_G0018481	protein coding gene	Chr11:84908671-84958690 (+)
DBA/2J	MGP_DBA2J_G0018590	protein coding gene	Chr11:75468962-75517227 (+)
FVB/NJ	MGP_FVBNJ_G0018580	protein coding gene	Chr11:75050201-75099889 (+)
LP/J	MGP_LPJ_G0018661	protein coding gene	Chr11:79433207-79481937 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018606	protein coding gene	Chr11:85354195-85402010 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019189	protein coding gene	Chr11:78424257-78473168 (+)
PWK/PhJ	MGP_PWKPhJ_G0017836	protein coding gene	Chr11:76241830-76290928 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017627	protein coding gene	Chr11:78026011-78075785 (+)
WSB/EiJ	MGP_WSBEiJ_G0018118	protein coding gene	Chr11:78234840-78286981 (+)

Human Ortholog

SEZ6, seizure related 6 homolog

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SEZ6, seizure related 6 homolog
Synonyms

BSRPC
Links

HGNC:15955

NCBI Gene ID: 124925

neXtProt AC: NX_Q53EL9

UniProt: Q53EL9
Chr Location

17q11.2; chr17:28954901-29006440 (-) GRCh38

Alliance of Genome Resources

Sez6 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SEZ6
Gene Tree

Sez6

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Phenotype Summary

13 phenotypes from 2 alleles in 2 genetic backgrounds
7 phenotypes from multigenic genotypes
17 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

6
Targeted

3
Genomic Mutations

2 involving Sez6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

35 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit increased short dendrites, decreased excitatory synaptic signaling, resistance to pharmacologically induces seizures, decreased activity and impaired learning and coordination.

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All GO Annotations

33
GO References

6

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	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development	DNA-templated transcription

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded 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

901
Tissues

114
cDNA Data

120
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sez6

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Sez6 interacts with 287 markers (Mir9-1, Mir9-2, Mir9-3, ...) View All

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All Sequences

77
RefSeq

26
UniProt

4
CCDS

CCDS25087.1, CCDS70255.1

Ensembl

ENSMUSG00000000632 (Evidence)
NCBI Gene

20370

			Length	Strain/Species	Flank
genomic	ENSMUSG00000000632	Ensembl Gene Model \| MGI Sequence Detail	48249	C57BL/6J	± kb
transcript	ENSMUST00000093995	Ensembl \| MGI Sequence Detail	4239	Not Applicable
polypeptide	ENSMUSP00000091532	Ensembl \| MGI Sequence Detail	991	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000014727 seizure protein 6

(term hierarchy)
InterPro Domains

IPR000859 CUB domain

IPR035914 Spermadhesin, CUB domain superfamily

IPR000436 Sushi/SCR/CCP domain

IPR035976 Sushi/SCR/CCP superfamily

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All nucleic 131

Genomic 3

cDNA 122

Primer pair 6

Microarray probesets 4

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MGD-MRK-23995, MGD-MRK-28036

Summaries

All 52

Developmental Gene Expression 9

Gene Ontology 6

Phenotypes 17
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:331368 Hidaka C, et al., Differential brain expression pattern of Sez6 alternative splicing isoform with deleted transmembrane domain. Biochem Biophys Res Commun. 2022 Dec 25;636(Pt 2):128-132

TSS for Sez6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr103201	Chr11:77821698-77821760 (+)	103 bp
Tssr103202	Chr11:77844257-77844268 (+)	22,637 bp
Tssr103203	Chr11:77844293-77844305 (+)	22,673 bp
Tssr103204	Chr11:77844334-77844349 (+)	22,716 bp
Tssr103205	Chr11:77844679-77844689 (+)	23,058 bp
Tssr103206	Chr11:77868575-77868583 (+)	46,953 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 11/28/2023 MGI 6.22