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Sez6l2 Gene Detail
Summary
  • 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
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126549735-126569778 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.25 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    465 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2385295
 protein coding gene Chr7:126549665-126569782 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033010
 protein coding gene Chr7:131262261-131282285 (+)
A/J MGP_AJ_G0032993
 protein coding gene Chr7:127778227-127798226 (+)
AKR/J MGP_AKRJ_G0032925
 protein coding gene Chr7:131012168-131033760 (+)
BALB/cJ MGP_BALBcJ_G0032998
 protein coding gene Chr7:127441316-127462317 (+)
C3H/HeJ MGP_C3HHeJ_G0032708
 protein coding gene Chr7:130952773-130973918 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033504
 protein coding gene Chr7:136365902-136385748 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030476
 protein coding gene Chr7:128987794-129008841 (+)
CAST/EiJ MGP_CASTEiJ_G0032037
 protein coding gene Chr7:122740029-122761332 (+)
CBA/J MGP_CBAJ_G0032681
 protein coding gene Chr7:140952124-140972180 (+)
DBA/2J MGP_DBA2J_G0032833
 protein coding gene Chr7:125752293-125772279 (+)
FVB/NJ MGP_FVBNJ_G0032786
 protein coding gene Chr7:125602468-125622770 (+)
LP/J MGP_LPJ_G0032927
 protein coding gene Chr7:132726595-132746548 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032818
 protein coding gene Chr7:142119970-142140017 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033523
 protein coding gene Chr7:130028383-130048234 (+)
PWK/PhJ MGP_PWKPhJ_G0031744
 protein coding gene Chr7:118747698-118767985 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031590
 protein coding gene Chr7:116867591-116887313 (+)
WSB/EiJ MGP_WSBEiJ_G0032149
 protein coding gene Chr7:131004548-131024525 (+)



Homology
more
  • Human Ortholog
    SEZ6L2, seizure related 6 homolog like 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SEZ6L2, seizure related 6 homolog like 2
  • Synonyms
    BSRPA, PSK-1
  • Links
    NCBI Gene ID: 26470
    UniProt: Q6UXD5

  • Chr Location
    16p11.2; chr16:29871159-29899550 (-)  GRCh38
Human Diseases
less
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 2 alleles in 2 genetic backgrounds
    7 phenotypes from multigenic genotypes
    51 phenotype references
Mice homozygous for a knock-out allele exhibit no apparent defects. Adult male mice heterozygous for a different knock-out allele show no significant brain neuroanatomical phenotypes.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    5
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.
Expression
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Expression Overview

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
    910
  • Tissues
    41
  • cDNA Data
    48
  • Literature Summary
    6
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000030683 Ensembl Gene Model | MGI Sequence Detail 20044 C57BL/6J ±  kb
transcript ENSMUST00000106333 Ensembl | MGI Sequence Detail 3595 Not Applicable  
polypeptide ENSMUSP00000101940 Ensembl | MGI Sequence Detail 923 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 49
    cDNA 49

    Microarray probesets 5
Other
Accession IDs
less
MGI:2142033, MGI:2142207
References
more
  • Summaries
    All 83
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 5
    Phenotypes 51
  • Earliest
    J:93300 Blackshaw S, et al., Genomic analysis of mouse retinal development. PLoS Biol. 2004 Oct;2(9):E247
  • Latest
    J:365984 Ju J, et al., The "don't eat me" signal CD47 is associated with microglial phagocytosis defects and autism-like behaviors in 16p11.2 deletion mice. Proc Natl Acad Sci U S A. 2025 Apr 22;122(16):e2411080122
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
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory