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

Summary

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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Sez6l2 expression in mouse embryos was restricted to the spinal cord and brain
Title: Association and mutation analyses of 16p11.2 autism candidate genes.

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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

D7Mit188 (e-PCR), detects polymorphism
- UniSTS:131078

AI835913 (e-PCR)
- UniSTS:179651

AW121566 (e-PCR)
- UniSTS:179654

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)

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)
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)
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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

126549665..126569782

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)
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)