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

Gene ID: 26470, updated on 5-Aug-2018

Summary

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; Vega:OTTHUMG00000132112
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

Genomic context

See SEZ6L2 in Genome Data Viewer
Location:
16p11.2
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (29871159..29899573, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29882480..29910585, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CDP-diacylglycerol--inositol 3-phosphatidyltransferase Neighboring gene CDIP transferase opposite strand, pseudogene Neighboring gene aspartate beta-hydroxylase domain containing 1 Neighboring gene potassium channel tetramerization domain containing 13 Neighboring gene uncharacterized LOC107984836

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA 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.
NHGRI GWA Catalog
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
NHGRI GWA 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.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90517

Gene Ontology Provided by GOA

Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_029737.1 RefSeqGene

    Range
    5001..33106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001114099.2NP_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)
    AJ245822, AY358404, BC000567, DA726021
    UniProtKB/Swiss-Prot
    Q6UXD5
    Conserved Domains (4) summary
    cd00033
    Location:574630
    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:635694
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:457547
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:394453
    Sushi; Sushi repeat (SCR repeat)
  2. NM_001114100.2NP_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)
    AY358404, BC000567, DA188718, DA726021
    Consensus CDS
    CCDS45458.1
    UniProtKB/Swiss-Prot
    Q6UXD5
    Related
    ENSP00000319215.6, OTTHUMP00000255975, ENST00000346932.9, OTTHUMT00000435599
    Conserved Domains (4) summary
    cd00033
    Location:530586
    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:591650
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:413503
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:350409
    Sushi; Sushi repeat (SCR repeat)
  3. NM_001243332.1NP_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)
    AK299103, AY358404, BC000567, DA188718, DA726021
    Consensus CDS
    CCDS73865.1
    UniProtKB/Swiss-Prot
    Q6UXD5
    UniProtKB/TrEMBL
    A0A087WYL5, B7Z5L4
    Related
    ENSP00000481917.1, ENST00000617533.4
    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:464523
    Sushi; Sushi repeat (SCR repeat)
  4. NM_001243333.1NP_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)
    AK293675, AY358404, BC000567, DA188718, DA726021
    Consensus CDS
    CCDS58447.1
    UniProtKB/Swiss-Prot
    Q6UXD5
    Related
    ENSP00000439412.1, ENST00000537485.5
    Conserved Domains (4) summary
    cd00033
    Location:600656
    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:661720
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    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:420479
    Sushi; Sushi repeat (SCR repeat)
  5. NM_012410.3NP_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)
    AJ245820, AY358404, BC000567, DA726021
    Consensus CDS
    CCDS10658.1
    UniProtKB/Swiss-Prot
    Q6UXD5
    UniProtKB/TrEMBL
    A0A0A8K8P7
    Related
    ENSP00000310206.3, OTTHUMP00000162991, ENST00000350527.7, OTTHUMT00000255153
    Conserved Domains (4) summary
    cd00033
    Location:574630
    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:635694
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:457547
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:394453
    Sushi; Sushi repeat (SCR repeat)
  6. NM_201575.3NP_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)
    AY358404, BC000567, DA188718, DA726021
    Consensus CDS
    CCDS10659.1
    UniProtKB/Swiss-Prot
    Q6UXD5
    Related
    ENSP00000312550.5, OTTHUMP00000162992, ENST00000308713.9, OTTHUMT00000255154
    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:464523
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    29871159..29899573 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023135.2XP_016878624.1  seizure 6-like protein 2 isoform X3

  2. XM_024450229.1XP_024305997.1  seizure 6-like protein 2 isoform X2

    Conserved Domains (4) summary
    smart00032
    Location:176231
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:413503
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:350409
    Sushi; Sushi repeat (SCR repeat)
    cl27761
    Location:551714
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  3. XM_005255252.3XP_005255309.1  seizure 6-like protein 2 isoform X1

    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:464523
    Sushi; Sushi repeat (SCR repeat)
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