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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
Location & Maps
more
  • 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
Homology
more
  • 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
    NCBI Gene ID: 26470
    neXtProt AC: NX_Q6UXD5
    UniProt: Q6UXD5

  • Chr Location
    16p11.2; chr16:29871159-29899573 (-)  GRCh38.p7
Human Diseases
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  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    7 phenotypes from multigenic genotypes
    17 phenotype references
Mice homozygous for a knock-out allele exhibit no apparent defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    9
  • GO References
    2
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
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.
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
    203
  • Tissues
    40
  • cDNA Data
    47
  • Literature Summary
    4
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
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  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    98 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 48
    cDNA 48

    Microarray probesets 5
Other
Accession IDs
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MGI:2142033, MGI:2142207
References
more
  • Summaries
    All 43
    Developmental Gene Expression 4
    Diseases 3
    Gene Ontology 2
    Phenotypes 17
  • Earliest
    J:93300 Blackshaw S, et al., Genomic analysis of mouse retinal development. PLoS Biol. 2004 Oct;2(9):E247
  • Latest
    J:241068 Lucitti JL, et al., Variants of Rab GTPase-Effector Binding Protein-2 Cause Variation in the Collateral Circulation and Severity of Stroke. Stroke. 2016 Dec;47(12):3022-3031
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
07/11/2017
MGI 6.10 		The Jackson Laboratory