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    Sez6l2 seizure related 6 homolog like 2 [ Mus musculus (house mouse) ]

    Gene ID: 233878, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Sez6l2provided by MGI
    Official Full Name
    seizure related 6 homolog like 2provided by MGI
    Primary source
    MGI:MGI:2385295
    See related
    Ensembl:ENSMUSG00000030683 AllianceGenome:MGI:2385295
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Psk1; BSRP-A
    Summary
    Acts upstream of or within activation of protein kinase C activity; adult locomotory behavior; and nervous system development. Located in endoplasmic reticulum and neuronal cell body. Is expressed in adrenal medulla; gut; nervous system; neural retina; and olfactory epithelium. Orthologous to human SEZ6L2 (seizure related 6 homolog like 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 81.5), cortex adult (RPKM 48.6) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sez6l2 in Genome Data Viewer
    Location:
    7 F3; 7 69.25 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (126549665..126569782)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (126950495..126970610)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10477 Neighboring gene potassium channel tetramerisation domain containing 13 Neighboring gene aspartate beta-hydroxylase domain containing 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:134119536-134119823 Neighboring gene CDIP transferase, opposite strand Neighboring gene CDP-diacylglycerol--inositol 3-phosphatidyltransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Sez6l2 regulates phosphorylation of ADD and neuritogenesis. Yaguchi H, et al. Biochem Biophys Res Commun, 2017 Dec 9. PMID 29032200
    2. BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains. Causevic M, et al. PLoS One, 2018. PMID 29979789, Free PMC Article
    3. Association and mutation analyses of 16p11.2 autism candidate genes. Kumar RA, et al. PLoS One, 2009. PMID 19242545, Free PMC Article
    4. FAM19A5 Expression During Embryogenesis and in the Adult Traumatic Brain of FAM19A5-LacZ Knock-in Mice. Shahapal A, et al. Front Neurosci, 2019. PMID 31543758, Free PMC Article
    5. Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family. Miyazaki T, et al. FEBS Lett, 2006 Jul 24. PMID 16814779

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results show that NPC1 loss-of-function in a mouse model of Niemann-Pick type C disease leads to enhanced cleavage of BACE1 substrates Sez6 and Sez6L, in addition to APP, and that this effect most likely involves altered trafficking of BACE1 and of its substrates within the endolysosomal system. Efficacy of Sez6 cleavage by BACE1 may be spatiotemporally differently regulated in contrast to the cleavage of Sez6L.
      Title: BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains.
    2. Sez6l2 is one of the auxiliary subunits of the AMPA receptor and acts as a scaffolding protein to link GluR1 to ADD. Furthermore, Sez6l2 overexpression upregulates ADD phosphorylation, whereas siRNA-mediated downregulation of Sez612 prevents ADD phosphorylation, suggesting that Sez6l2 modulates AMPA-ADD signal transduction.
      Title: Sez6l2 regulates phosphorylation of ADD and neuritogenesis.
    3. Sez6l2 expression in mouse embryos was restricted to the spinal cord and brain
      Title: Association and mutation analyses of 16p11.2 autism candidate genes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (4)  1 citation

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC19060, MGC90604

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within activation of protein kinase C activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within adult locomotory behavior IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebellar Purkinje cell layer development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of protein kinase C signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synapse maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within synapse maturation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    seizure 6-like protein 2
    Names
    brain-specific receptor-like protein A
    type I transmembrane receptor (seizure-related protein)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001252566.1 → NP_001239495.1  seizure 6-like protein 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001239495.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 5' coding region and lacks an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      BC096615, BY124433
      Consensus CDS
      CCDS57585.1
      UniProtKB/Swiss-Prot
      Q4V9Z5, Q6AXF9, Q91X64
      Related
      ENSMUSP00000101942.2, ENSMUST00000106335.8
      Conserved Domains (4) summary
      cd00033
      Location:644 → 700
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:705 → 764
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:527 → 617
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:466 → 523
      Sushi; Sushi repeat (SCR repeat)

    2. NM_001252567.1 → NP_001239496.1  seizure 6-like protein 2 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001239496.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses a different splice site in the 5' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AK034088, BC079573, BC096615, BY124433, CJ143987
      Consensus CDS
      CCDS57586.1
      UniProtKB/Swiss-Prot
      Q4V9Z5
      Related
      ENSMUSP00000101939.2, ENSMUST00000106332.3
      Conserved Domains (4) summary
      cd00033
      Location:584 → 640
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:645 → 704
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:467 → 557
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:406 → 463
      Sushi; Sushi repeat (SCR repeat)

    3. NM_144926.5 → NP_659175.1  seizure 6-like protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_659175.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
      Source sequence(s)
      AK034088, AK165738, BC096615, BY124433, CJ143987
      Consensus CDS
      CCDS40135.1
      UniProtKB/Swiss-Prot
      Q4V9Z5
      Related
      ENSMUSP00000101940.2, ENSMUST00000106333.8
      Conserved Domains (4) summary
      cd00033
      Location:644 → 700
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:705 → 764
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:527 → 617
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:466 → 523
      Sushi; Sushi repeat (SCR repeat)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      126549665..126569782
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006507737.4 → XP_006507800.1  seizure 6-like protein 2 isoform X4

      Conserved Domains (4) summary
      cd00033
      Location:246 → 301
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:621 → 784
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:483 → 573
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:422 → 479
      Sushi; Sushi repeat (SCR repeat)

    2. XM_030242532.2 → XP_030098392.1  seizure 6-like protein 2 isoform X3

      Conserved Domains (4) summary
      cd00033
      Location:246 → 301
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:621 → 784
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:483 → 573
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:422 → 479
      Sushi; Sushi repeat (SCR repeat)

    3. XM_030242531.2 → XP_030098391.1  seizure 6-like protein 2 isoform X2

      Conserved Domains (4) summary
      cd00033
      Location:290 → 345
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:665 → 828
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:527 → 617
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:466 → 523
      Sushi; Sushi repeat (SCR repeat)

    4. XM_030242530.2 → XP_030098390.1  seizure 6-like protein 2 isoform X1

      Conserved Domains (4) summary
      cd00033
      Location:290 → 345
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:665 → 828
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:527 → 617
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:466 → 523
      Sushi; Sushi repeat (SCR repeat)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4V9Z5.1 GenPept UniProtKB/Swiss-Prot:Q4V9Z5

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