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Sez6 seizure related gene 6 [ Mus musculus (house mouse) ]

Gene ID: 20370, updated on 18-Apr-2024

Summary

Official Symbol
Sez6provided by MGI
Official Full Name
seizure related gene 6provided by MGI
Primary source
MGI:MGI:104745
See related
Ensembl:ENSMUSG00000000632 AllianceGenome:MGI:104745
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
sez-6; BSRP-C; D11Bhm177e
Summary
Acts upstream of or within several processes, including excitatory postsynaptic potential; nervous system development; and regulation of dendrite development. Located in several cellular components, including dendrite; neuronal cell body; and perinuclear region of cytoplasm. Is expressed in several structures, including central nervous system; genitourinary system; liver; retina; and thymus. Orthologous to human SEZ6 (seizure related 6 homolog). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in whole brain E14.5 (RPKM 47.2), CNS E14 (RPKM 47.1) and 5 other tissues See more
Orthologs
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Genomic context

Location:
11 B5; 11 46.74 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (77821403..77869874)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (77930587..77979052)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_30076 Neighboring gene VISTA enhancer mm981 Neighboring gene predicted gene, 29979 Neighboring gene predicted gene 11190 Neighboring gene STARR-seq mESC enhancer starr_30082 Neighboring gene predicted gene, 53689 Neighboring gene PHD finger protein 12 Neighboring gene predicted gene, 51908

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • Gene trapped (1) 
  • Targeted (2)  1 citation

General gene information

Markers

Clone Names

  • KIAA4158, D11Bhm177e

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in apical dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in dendritic shaft IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in dendritic shaft IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in dendritic spine IDA
Inferred from Direct Assay
more info
PubMed 
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 extracellular region IEA
Inferred from Electronic Annotation
more info
 
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 perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
seizure protein 6
Names
brain-specific receptor-like protein C

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_001291225.2NP_001278154.1  seizure protein 6 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AL591065, AL845484
    Consensus CDS
    CCDS70255.1
    UniProtKB/Swiss-Prot
    Q7TSK2
    Related
    ENSMUSP00000000646.8, ENSMUST00000000646.14
    Conserved Domains (4) summary
    cd00033
    Location:707763
    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:768827
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:413523
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:529586
    Sushi; Sushi repeat (SCR repeat)
  2. NM_001425404.1NP_001412333.1  seizure protein 6 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AL591065, AL845484
  3. NM_001425405.1NP_001412334.1  seizure protein 6 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL591065, AL845484
  4. NM_001425406.1NP_001412335.1  seizure protein 6 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL591065, AL845484
  5. NM_001425407.1NP_001412336.1  seizure protein 6 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL591065, AL845484
  6. NM_001425408.1NP_001412337.1  seizure protein 6 isoform 7 precursor

    Status: VALIDATED

    Source sequence(s)
    AL591065
  7. NM_001425409.1NP_001412338.1  seizure protein 6 isoform 8 precursor

    Status: VALIDATED

    Source sequence(s)
    AL591065
  8. NM_021286.5NP_067261.2  seizure protein 6 isoform 1 precursor

    See identical proteins and their annotated locations for NP_067261.2

    Status: VALIDATED

    Source sequence(s)
    AL591065, AL845484
    Consensus CDS
    CCDS25087.1
    UniProtKB/Swiss-Prot
    Q3TT53, Q62223, Q62224, Q62269, Q7TPC9, Q7TSK2
    Related
    ENSMUSP00000091532.4, ENSMUST00000093995.10
    Conserved Domains (4) summary
    cd00033
    Location:707763
    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:768827
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:413523
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:529586
    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_000077.7 Reference GRCm39 C57BL/6J

    Range
    77821403..77869874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030245723.1XP_030101583.1  seizure protein 6 isoform X3

    UniProtKB/TrEMBL
    Q5DTK7
    Conserved Domains (4) summary
    cd00033
    Location:548604
    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:548733
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:254364
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:370427
    Sushi; Sushi repeat (SCR repeat)
  2. XM_036156478.1XP_036012371.1  seizure protein 6 isoform X3

    UniProtKB/TrEMBL
    Q5DTK7
    Conserved Domains (4) summary
    cd00033
    Location:548604
    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:548733
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:254364
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:370427
    Sushi; Sushi repeat (SCR repeat)
  3. XM_006532637.2XP_006532700.1  seizure protein 6 isoform X2

    Conserved Domains (5) summary
    cd00033
    Location:707763
    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:707892
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:413523
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:529586
    Sushi; Sushi repeat (SCR repeat)
    pfam03154
    Location:42200
    Atrophin-1; Atrophin-1 family
  4. XM_006532639.5XP_006532702.1  seizure protein 6 isoform X3

    UniProtKB/TrEMBL
    Q5DTK7
    Conserved Domains (4) summary
    cd00033
    Location:548604
    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:548733
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:254364
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:370427
    Sushi; Sushi repeat (SCR repeat)
  5. XM_006532640.4XP_006532703.1  seizure protein 6 isoform X4

    See identical proteins and their annotated locations for XP_006532703.1

    UniProtKB/Swiss-Prot
    Q7TSK2
    Conserved Domains (4) summary
    cd00033
    Location:191247
    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:191376
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:74183
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:1370
    Sushi; Sushi repeat (SCR repeat)