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

Gene ID: 233878, updated on 12-May-2024

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 adult locomotory behavior; nervous system development; and regulation of protein kinase C signaling. 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, Apr 2022]
Expression
Biased expression in cerebellum adult (RPKM 81.5), cortex adult (RPKM 48.6) and 6 other tissues See more
Orthologs
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Genomic context

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

Expression

  • 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

Variation

Alleles

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

General gene information

Markers

Clone Names

  • MGC19060, MGC90604

Gene Ontology Provided by MGI

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 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

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_001252566.1NP_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:644700
    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:705764
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:527617
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:466523
    Sushi; Sushi repeat (SCR repeat)
  2. NM_001252567.1NP_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:584640
    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:645704
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:467557
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:406463
    Sushi; Sushi repeat (SCR repeat)
  3. NM_144926.5NP_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:644700
    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:705764
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:527617
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:466523
    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_006507737.4XP_006507800.1  seizure 6-like protein 2 isoform X4

    Conserved Domains (4) summary
    cd00033
    Location:246301
    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:621784
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:483573
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:422479
    Sushi; Sushi repeat (SCR repeat)
  2. XM_030242532.2XP_030098392.1  seizure 6-like protein 2 isoform X3

    Conserved Domains (4) summary
    cd00033
    Location:246301
    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:621784
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:483573
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:422479
    Sushi; Sushi repeat (SCR repeat)
  3. XM_030242531.2XP_030098391.1  seizure 6-like protein 2 isoform X2

    Conserved Domains (4) summary
    cd00033
    Location:290345
    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:665828
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:527617
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:466523
    Sushi; Sushi repeat (SCR repeat)
  4. XM_030242530.2XP_030098390.1  seizure 6-like protein 2 isoform X1

    Conserved Domains (4) summary
    cd00033
    Location:290345
    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:665828
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:527617
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:466523
    Sushi; Sushi repeat (SCR repeat)