Sez6l2 MGI Mouse Gene Detail - MGI:2385295 - seizure related 6 homolog like 2

Sez6l2 Gene Detail

Symbol

Sez6l2
Name

seizure related 6 homolog like 2
Synonyms

Psk1

Feature Type

protein coding gene
IDs

MGI:2385295
NCBI Gene: 233878
Alliance

gene page

Sequence Map

Chr7:126950563-126970606 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

20044 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 69.25 cM
Mapping Data

2 experiments

Human Ortholog

SEZ6L2, seizure related 6 homolog like 2

Vertebrate Orthologs

9

Human Ortholog

SEZ6L2, seizure related 6 homolog like 2
Orthology source: HomoloGene, HGNC
Synonyms

BSRPA, PSK-1
Links

HGNC:30844

NCBI Gene ID: 26470

neXtProt AC: NX_Q6UXD5

UniProt: Q6UXD5
Chr Location

16p11.2; chr16:29871159-29899573 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 8237
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: SEZ6L2
Gene Tree

Sez6l2

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References

3 with disease annotations

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
7 phenotypes from multigenic genotypes
19 phenotype references

All Mutations and Alleles

9
Targeted

9
Genomic Mutations

3 involving Sez6l2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

23 strains or lines available

Mice homozygous for a knock-out allele exhibit no apparent defects.

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All GO Annotations

9
GO References

2

External Resources

FuncBase

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

203
Tissues

40
cDNA Data

47
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sez6l2

ZFIN sez6l2

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Sez6l2 interacts with 123 markers (Mir7-2, Mir7b, Mir15a, ...) View All

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All Sequences

53
RefSeq

8
UniProt

4
CCDS

CCDS40135.1, CCDS57585.1, CCDS57586.1
UniGene

283926

			Length	Strain/Species	Flank
genomic	OTTMUSG00000023164	VEGA Gene Model \| MGI Sequence Detail	20044	C57BL/6J	± kb
transcript	OTTMUST00000056009	VEGA \| MGI Sequence Detail	3595	Not Applicable
polypeptide	OTTMUSP00000026877	VEGA \| MGI Sequence Detail	923	Not Applicable

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SNPs within 2kb

98 from dbSNP Build 142

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UniProt

4 Sequences
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 48

cDNA 48

Microarray probesets 5

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MGI:2142033, MGI:2142207

Summaries

All 44

Developmental Gene Expression 4

Diseases 3

Gene Ontology 2

Phenotypes 19
Earliest

J:93300 Blackshaw S, et al., Genomic analysis of mouse retinal development. PLoS Biol. 2004 Oct;2(9):E247
Latest

J:257347 Panzini CM, et al., 16p11.2 deletion syndrome mice perseverate with active coping response to acute stress - rescue by blocking 5-HT2A receptors. J Neurochem. 2017 Dec;143(6):708-721

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/17/2018 MGI 6.11