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SEZ6L2 (seizure related 6 homolog like 2)

Identity

Alias_namesseizure related 6 homolog (mouse)-like 2
Alias_symbol (synonym)PSK-1
FLJ90517
Other aliasBSRPA
HGNC (Hugo) SEZ6L2
LocusID (NCBI) 26470
Atlas_Id 41884
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 29871159 and ends at 29899264 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SEZ6L2   30844
Cards
Entrez_Gene (NCBI)SEZ6L2  26470  seizure related 6 homolog like 2
AliasesBSRPA; PSK-1
GeneCards (Weizmann)SEZ6L2
Ensembl hg19 (Hinxton)ENSG00000174938 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174938 [Gene_View]  chr16:29871159-29899264 [Contig_View]  SEZ6L2 [Vega]
ICGC DataPortalENSG00000174938
TCGA cBioPortalSEZ6L2
AceView (NCBI)SEZ6L2
Genatlas (Paris)SEZ6L2
WikiGenes26470
SOURCE (Princeton)SEZ6L2
Genetics Home Reference (NIH)SEZ6L2
Genomic and cartography
GoldenPath hg38 (UCSC)SEZ6L2  -     chr16:29871159-29899264 -  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEZ6L2  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblSEZ6L2 - 16p11.2 [CytoView hg19]  SEZ6L2 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBISEZ6L2 [Mapview hg19]  SEZ6L2 [Mapview hg38]
OMIM616667   
Gene and transcription
Genbank (Entrez)AB105376 AF131749 AJ245820 AJ245821 AJ245822
RefSeq transcript (Entrez)NM_001114099 NM_001114100 NM_001243332 NM_001243333 NM_012410 NM_201575
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEZ6L2
Cluster EST : UnigeneHs.6314 [ NCBI ]
CGAP (NCI)Hs.6314
Alternative Splicing GalleryENSG00000174938
Gene ExpressionSEZ6L2 [ NCBI-GEO ]   SEZ6L2 [ EBI - ARRAY_EXPRESS ]   SEZ6L2 [ SEEK ]   SEZ6L2 [ MEM ]
Gene Expression Viewer (FireBrowse)SEZ6L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26470
GTEX Portal (Tissue expression)SEZ6L2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UXD5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UXD5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UXD5
Splice isoforms : SwissVarQ6UXD5
PhosPhoSitePlusQ6UXD5
Domaine pattern : Prosite (Expaxy)CUB (PS01180)    SUSHI (PS50923)   
Domains : Interpro (EBI)CUB_dom    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)CUB (PF00431)    Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00431    pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  CUB (SM00042)  
Conserved Domain (NCBI)SEZ6L2
DMDM Disease mutations26470
Blocks (Seattle)SEZ6L2
SuperfamilyQ6UXD5
Human Protein AtlasENSG00000174938
Peptide AtlasQ6UXD5
HPRD06686
IPIIPI00645828   IPI00018276   IPI00892924   IPI01013810   IPI00419722   IPI00306470   
Protein Interaction databases
DIP (DOE-UCLA)Q6UXD5
IntAct (EBI)Q6UXD5
FunCoupENSG00000174938
BioGRIDSEZ6L2
STRING (EMBL)SEZ6L2
ZODIACSEZ6L2
Ontologies - Pathways
QuickGOQ6UXD5
Ontology : AmiGOendoplasmic reticulum membrane  plasma membrane  integral component of membrane  
Ontology : EGO-EBIendoplasmic reticulum membrane  plasma membrane  integral component of membrane  
NDEx NetworkSEZ6L2
Atlas of Cancer Signalling NetworkSEZ6L2
Wikipedia pathwaysSEZ6L2
Orthology - Evolution
OrthoDB26470
GeneTree (enSembl)ENSG00000174938
Phylogenetic Trees/Animal Genes : TreeFamSEZ6L2
HOVERGENQ6UXD5
HOGENOMQ6UXD5
Homologs : HomoloGeneSEZ6L2
Homology/Alignments : Family Browser (UCSC)SEZ6L2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEZ6L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEZ6L2
dbVarSEZ6L2
ClinVarSEZ6L2
1000_GenomesSEZ6L2 
Exome Variant ServerSEZ6L2
ExAC (Exome Aggregation Consortium)SEZ6L2 (select the gene name)
Genetic variants : HAPMAP26470
Genomic Variants (DGV)SEZ6L2 [DGVbeta]
DECIPHERSEZ6L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEZ6L2 
Mutations
ICGC Data PortalSEZ6L2 
TCGA Data PortalSEZ6L2 
Broad Tumor PortalSEZ6L2
OASIS PortalSEZ6L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEZ6L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSEZ6L2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SEZ6L2
DgiDB (Drug Gene Interaction Database)SEZ6L2
DoCM (Curated mutations)SEZ6L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEZ6L2 (select a term)
intoGenSEZ6L2
Cancer3DSEZ6L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616667   
Orphanet
MedgenSEZ6L2
Genetic Testing Registry SEZ6L2
NextProtQ6UXD5 [Medical]
TSGene26470
GENETestsSEZ6L2
Target ValidationSEZ6L2
Huge Navigator SEZ6L2 [HugePedia]
snp3D : Map Gene to Disease26470
BioCentury BCIQSEZ6L2
ClinGenSEZ6L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26470
Chemical/Pharm GKB GenePA134924025
Clinical trialSEZ6L2
Miscellaneous
canSAR (ICR)SEZ6L2 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEZ6L2
EVEXSEZ6L2
GoPubMedSEZ6L2
iHOPSEZ6L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:30:44 CEST 2017

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