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

Gene ID: 233878, updated on 2-Nov-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, Nov 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 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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