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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
    mouse all
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    Genomic context

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    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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