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SEZ6L2 seizure related 6 homolog like 2 [ Homo sapiens (human) ]

Gene ID: 26470, updated on 5-Mar-2024

Summary

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Official Symbol
SEZ6L2provided by HGNC
Official Full Name
seizure related 6 homolog like 2provided by HGNC
Primary source
HGNC:HGNC:30844
See related
Ensembl:ENSG00000174938 MIM:616667; AllianceGenome:HGNC:30844
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BSRPA; PSK-1
Summary
This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Expression
Broad expression in brain (RPKM 28.3), adrenal (RPKM 11.3) and 14 other tissues See more
Orthologs
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Genomic context

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See SEZ6L2 in Genome Data Viewer
Location:
16p11.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29871159..29899550, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30153803..30182186, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29882480..29910871, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29871974-29872512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29874668-29875205 Neighboring gene CDP-diacylglycerol--inositol 3-phosphatidyltransferase Neighboring gene CDIP transferase opposite strand, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:29889007-29889508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:29889509-29890008 Neighboring gene Sharpr-MPRA regulatory region 6067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29912830-29913534 Neighboring gene aspartate beta-hydroxylase domain containing 1 Neighboring gene potassium channel tetramerization domain containing 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7344 Neighboring gene KCTD13 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. SEZ6L2, regulated by USF1, accelerates the growth and metastasis of breast cancer. Chen L, et al. Exp Cell Res, 2022 Aug 1. PMID 35523305
  2. The Sez6 Family Inhibits Complement by Facilitating Factor I Cleavage of C3b and Accelerating the Decay of C3 Convertases. Qiu WQ, et al. Front Immunol, 2021. PMID 33936031, Free PMC Article
  3. Upregulated Seizure-Related 6 Homolog-Like 2 Is a Prognostic Predictor of Hepatocellular Carcinoma. Wang L, et al. Dis Markers, 2020. PMID 32148567, Free PMC Article
  4. SEZ6L2 knockdown impairs tumour growth by promoting caspase-dependent apoptosis in colorectal cancer. An N, et al. J Cell Mol Med, 2020 Apr. PMID 32105413, Free PMC Article
  5. Cathepsin D and its newly identified transport receptor SEZ6L2 can modulate neurite outgrowth. Boonen M, et al. J Cell Sci, 2016 Feb 1. PMID 26698217

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SEZ6L2, regulated by USF1, accelerates the growth and metastasis of breast cancer.
    Title: SEZ6L2, regulated by USF1, accelerates the growth and metastasis of breast cancer.
  2. The Sez6 Family Inhibits Complement by Facilitating Factor I Cleavage of C3b and Accelerating the Decay of C3 Convertases.
    Title: The Sez6 Family Inhibits Complement by Facilitating Factor I Cleavage of C3b and Accelerating the Decay of C3 Convertases.
  3. SEZ6L2 knockdown impairs tumour growth by promoting caspase-dependent apoptosis in colorectal cancer.
    Title: SEZ6L2 knockdown impairs tumour growth by promoting caspase-dependent apoptosis in colorectal cancer.
  4. Upregulated Seizure-Related 6 Homolog-Like 2 Is a Prognostic Predictor of Hepatocellular Carcinoma.
    Title: Upregulated Seizure-Related 6 Homolog-Like 2 Is a Prognostic Predictor of Hepatocellular Carcinoma.
  5. SEZ6L2 can partially correct the cathepsin D hypersecretion.
    Title: Cathepsin D and its newly identified transport receptor SEZ6L2 can modulate neurite outgrowth.
  6. These results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to autism spectrum disorders.
    Title: Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
  7. significant association between autism and a coding variant in the seizure-related gene SEZ6L2 gene; SEZ6L2 expression in human fetal brain was highest in post-mitotic cortical layers, hippocampus, amygdala, and thalamus
    Title: Association and mutation analyses of 16p11.2 autism candidate genes.
  8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association and mutation analyses of 16p11.2 autism candidate genes.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
EBI GWAS Catalog
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
EBI GWAS Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ90517

Gene Ontology Provided by GOA

Process Evidence Code Pubs
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
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
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 plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
seizure 6-like protein 2
Names
seizure related 6-like protein 2
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.

Genomic

  1. NG_029737.2 RefSeqGene

    Range
    4715..33106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001114099.3 → NP_001107571.1  seizure 6-like protein 2 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001107571.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 5. The encoded isoform (3) is shorter than isoform 5.
    Source sequence(s)
    AC120114, AJ245822, AY358404, BC000567, DA726021
    UniProtKB/TrEMBL
    B7Z5L4
    Conserved Domains (4) summary
    cd00033
    Location:574 → 630
    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:635 → 694
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:457 → 547
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:394 → 453
    Sushi; Sushi repeat (SCR repeat)

  2. NM_001114100.3 → NP_001107572.1  seizure 6-like protein 2 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons resulting in the loss of an in-frame segment in the 5' coding region, compared to variant 5. The encoded isoform (4) is shorter than isoform 5.
    Source sequence(s)
    AC120114, AY358404, BC000567, DA188718, DA726021
    Consensus CDS
    CCDS45458.1
    UniProtKB/TrEMBL
    X5DNZ5
    Related
    ENSP00000319215.6, ENST00000346932.9
    Conserved Domains (4) summary
    cd00033
    Location:530 → 586
    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:591 → 650
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:413 → 503
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:350 → 409
    Sushi; Sushi repeat (SCR repeat)

  3. NM_001243332.2 → NP_001230261.1  seizure 6-like protein 2 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).
    Source sequence(s)
    AC120114, AK299103, AY358404, BC000567, DA188718, DA726021
    Consensus CDS
    CCDS73865.1
    UniProtKB/TrEMBL
    A0A087WYL5, B7Z5L4
    Related
    ENSP00000481917.1, ENST00000617533.5
    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:464 → 523
    Sushi; Sushi repeat (SCR repeat)

  4. NM_001243333.2 → NP_001230262.1  seizure 6-like protein 2 isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 5' coding region, compared to variant 5, resulting in an isoform (6) that is shorter than isoform 5.
    Source sequence(s)
    AC120114, AK293675, AY358404, BC000567, DA188718, DA726021
    Consensus CDS
    CCDS58447.1
    UniProtKB/TrEMBL
    B7Z5L4
    Related
    ENSP00000439412.1, ENST00000537485.5
    Conserved Domains (4) summary
    cd00033
    Location:600 → 656
    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:661 → 720
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    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:420 → 479
    Sushi; Sushi repeat (SCR repeat)

  5. NM_001388363.1 → NP_001375292.1  seizure 6-like protein 2 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC120114
    UniProtKB/TrEMBL
    X5D2T7
    Conserved Domains (4) summary
    smart00032
    Location:176 → 231
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:551 → 714
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:413 → 503
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:350 → 409
    Sushi; Sushi repeat (SCR repeat)

  6. NM_001388364.1 → NP_001375293.1  seizure 6-like protein 2 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AC120114
    UniProtKB/TrEMBL
    B7Z5L4
    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:464 → 523
    Sushi; Sushi repeat (SCR repeat)

  7. NM_001388365.1 → NP_001375294.1  seizure 6-like protein 2 isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC120114
    UniProtKB/TrEMBL
    X5D7P3
    Conserved Domains (3) summary
    smart00032
    Location:290 → 345
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:598 → 761
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:460 → 550
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

  8. NM_012410.4 → NP_036542.1  seizure 6-like protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_036542.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 5, resulting in an isoform (1) that is shorter than isoform 5.
    Source sequence(s)
    AC120114, AJ245820, AY358404, BC000567, DA726021
    Consensus CDS
    CCDS10658.1
    UniProtKB/TrEMBL
    A0A0A8K8P7, B7Z5L4
    Related
    ENSP00000310206.3, ENST00000350527.7
    Conserved Domains (4) summary
    cd00033
    Location:574 → 630
    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:635 → 694
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:457 → 547
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:394 → 453
    Sushi; Sushi repeat (SCR repeat)

  9. NM_201575.4 → NP_963869.2  seizure 6-like protein 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_963869.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 5, resulting in an isoform (2) that is shorter than isoform 5.
    Source sequence(s)
    AC120114, AY358404, BC000567, DA188718, DA726021
    Consensus CDS
    CCDS10659.1
    UniProtKB/Swiss-Prot
    B7Z1N0, F5H293, H7BXQ6, Q6UXD5, Q9BW82, Q9UJ45, Q9UJ46, Q9UJ47
    UniProtKB/TrEMBL
    B7Z5L4
    Related
    ENSP00000312550.5, ENST00000308713.9
    Conserved Domains (4) summary
    smart00032
    Location:290 → 345
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    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:464 → 523
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    29871159..29899550 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    30153803..30182186 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UXD5.2 GenPept UniProtKB/Swiss-Prot:Q6UXD5

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