Aliases &
Descriptions
for SEZ6L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| seizure related 6 homolog (mouse)-like1 2 | | seizure related gene 6-like2 | | seizure related gene 6 (mouse)-like1 | | seizure 6-like protein2 | | OTTHUMP000001986482 | | KIAA09273 | | OTTHUMP000001986492 | | |
Export aliases for SEZ6L gene to outside databasesPrevious GC identifers: GC22P023261 GC22P023384 GC22P024890 GC22P024889 GC22P026565 |
Summaries
for SEZ6L gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: SE6L1_HUMAN, Q9BYH1Function: May contribute to specialized endoplasmic reticulum functions in neurons (By similarity)
Gene Wiki entry for SEZ6L |
Genomic Views
for SEZ6L gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SEZ6L gene promoter:
RSRFC4 MEF-2A GCNF-1 GCNF-2 Chx10 c-Myc Max1 NF-kappaB1 FOXD3 AP-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for SEZ6L
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q12.1 Ensembl cytogenetic band: 22q12.1 HGNC cytogenetic band: 22q12.1SEZ6L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P009512: view genomic region
(about GC identifiers)
Start:
|
9,512,935 bp from pter |
End:
|
9,727,121 bp from pter |
Size:
|
214,187 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr22+ 26,565,440-26,779,562 |
RefSeq DNA sequence:- NC_000022.10 NT_011520.12
|
Proteins
for SEZ6L gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: SE6L1_HUMAN, Q9BYH1 (See
protein sequence)Recommended Name: Seizure 6-like protein precursor Size: 1024 amino acids; 111782 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity)
Sequence caution: Sequence=BAA76771.2; Type=Erroneous initiation; Sequence=CAB37431.1; Type=Erroneous initiation;Sequence=CAB43355.1; Type=Erroneous initiation;
PDB structures from  and Proteopedia  :2YRA (3D)
Secondary accessions: A0AUW7 B0QYG4 B0QYG5 O95917 Q5THY5 Q6IBZ4 Q6UXD4 Q9NUI3 Q9NUI4 Q9NUI5 Q9Y2E1Q9Y3J6Alternative splicing: 5 isoforms: Q9BYH1-1 Q9BYH1-2 Q9BYH1-3 Q9BYH1-4 Q9BYH1-5 (Experimental confirmation may be lacking for some isoforms)Explore the universe of human proteins at neXtProt for SEZ6L: NX_Q9BYH1
REFSEQ proteins (6 alternative transcripts):
NP_001171702.1 NP_001171703.1 NP_001171704.1 NP_001171705.1 NP_001171706.1 NP_066938.2
ENSEMBL proteins: ENSP00000384838 ENSP00000381245 ENSP00000248933 ENSP00000384772 ENSP00000404225 ENSP00000342661 ENSP00000384733 ENSP00000354185 ENSP00000397274
Human Recombinant Proteins
4 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
SEZ6L for ontologies About GeneDecksing
Antibodies for SEZ6L:
Assays for SEZ6L: |
Protein
Domains/
Families
for SEZ6L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SEZ6L for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BYH1ProtoNet protein and cluster: Q9BYH1 2 Blocks protein families: IPB000436 Sushi domain/SCR domain/CCP module IPB000859 CUB domain
UniProtKB/Swiss-Prot: SE6L1_HUMAN, Q9BYH1Similarity: Belongs to the SEZ6 familySimilarity: Contains 3 CUB domainsSimilarity: Contains 5 Sushi (CCP/SCR) domains |
Gene Function
for SEZ6L gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: SE6L1_HUMAN, Q9BYH1Function: May contribute to specialized endoplasmic reticulum functions in neurons (By similarity)
Genatlas biochemistry entry for SEZ6L:seizure related gene 6 (mouse)-likeAnimal Models: 2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Sez6l):
SEZ6L for phenotypes About GeneDecksing
|
Pathways & Interactions
for SEZ6L gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for SEZ6L
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEZ6L
|
Drugs & Compounds
for SEZ6L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for SEZ6L
|
Transcripts
for SEZ6L gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for SEZ6L gene (6 alternative transcripts): NM_001184773.1 NM_001184774.1 NM_001184775.1 NM_001184776.1 NM_001184777.1 NM_021115.4 Additional cDNA sequence: AB023144.2 AB041736.1 AK294790.1 AL050253.1 AY358405.1 BC037846.2 BC126115.1 BC143851.1 BC143854.1 CR456574.1 7 DOTS entries: DT.111922 DT.97838043 DT.102829718 DT.75132234 DT.91644521 DT.40271865 DT.97769534 24/100 AceView cDNA sequences (see all 100): BF062276 AI360299 BM875435 BF591700 BE220403 AI015798 F05756 CR456574 AI360241 AY358405 BE503273 BE222339 AI363908 H55462 BI962863 Z38680 BI962921 AB041736 NM_021115 AI281980 N46729 AI365630 BF447755 BE219812
 highest scoring ESTs for SEZ6L:AB023144 AA133829 AA629566 AA663853 AA991780 AB041736 AI015798 AI281980 AI360241 AI360299 Unigene Cluster for SEZ6L: Seizure related 6 homolog (mouse)-like Hs.194766 [show with all ESTs]Unigene Representative Sequence: NM_021115
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SEZ6L (see all 10)
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ |
|---|
|
| SP1: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | - | | - | | | | - | | | | | | | | | | |
| SP5: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | - | | - | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for SEZ6L
11 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000403121 ENST00000483291 ENST00000398184 ENST00000248933 ENST00000404234(uc003acb.2 uc003acc.2 uc011akc.1 uc011akd.1 uc003ace.2 uc011ake.1)
ENST00000422412 ENST00000343706 ENST00000494013 ENST00000402979(uc003acf.1 uc010gvc.1)
ENST00000360929(uc003acd.2) ENST00000411842
|
Expression
for SEZ6L gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| SEZ6L expression in normal and diseased human tissues
1 / 2 / 3 10 probe-sets matching SEZ6L gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 32968_s_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
0.64 |
1.70 |
AL050253 |
0.80 |
1.00 |
0.91 |
1 |
| 33735_at2, 3
|
U95-A |
1 |
0.62 |
1.00 |
0.98 |
0.63 |
AB023144 |
1.00 |
1.00 |
1.00 |
1 |
| 211894_x_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
AB041736 |
0.80 |
1.00 |
0.91 |
1 |
| 207873_x_at2, 3
|
U133-A |
1 |
0.91 |
1.00 |
-- |
-- |
NM_021115 |
0.60 |
1.00 |
0.82 |
1 |
| 216047_x_at2, 3
|
U133-A |
1 |
0.82 |
1.00 |
-- |
-- |
AL050253 |
0.80 |
1.00 |
0.91 |
1 |
| 213609_s_at2, 3
|
U133-A |
1 |
0.46 |
1.00 |
-- |
-- |
AB023144 |
1.00 |
1.00 |
1.00 |
1 |
| 211894_x_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 207873_x_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 216047_x_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 213609_s_at2
|
U133Plus2 |
1 |
0.46 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
SEZ6L for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: ACGAGTCATT
SOURCE GeneReport for Unigene cluster: Hs.194766
Expression variation in blood from EXPOLDB for SEZ6L UniProtKB/Swiss-Prot: SE6L1_HUMAN, Q9BYH1Tissue specificity: Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer celllines
SABiosciences Custom PCR Arrays for SEZ6L
|
Orthologs
for SEZ6L gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SEZ6L gene from 5/6 species (see all 6)
About this table Species with no ortholog for SEZ6L
ENSEMBL Gene Tree for SEZ6L (if available) |
Paralogs
for SEZ6L gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for SEZ6L gene
- SEZ6L22 SELP2 SEZ62 SELE2 SELL2 SVEP12
SEZ6L for paralogs About GeneDecksing
|
Genomic Variants
for SEZ6L gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 22 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for SEZ6L (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SEZ6L
1 CNV: 2273 | | QIAGEN SeqTarget long-range PCR primers for resequencing SEZ6L |
|
Disorders & Mutations
for SEZ6L gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SEZ6L for disorders About GeneDecksing
OMIM: 607021
Human Genome Epidemiology (HuGE) Navigator: SEZ6L (7 documents)
Export disorders and mutations for SEZ6L gene to outside databases
|
Medical News
for SEZ6L gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for SEZ6L gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/17 PubMed articles for SEZ6L gene, integrated from 7 sources (see all 17):
(articles sorted by number of sources associating them with SEZ6L)- Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line. (PubMed id 11175339)1, 2, 7 Nishioka M....Yokota J. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
- Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PubMed id 12529303)1, 2 Collins J.E.... Dunham I. (2003)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
- A genomic screen for genes upregulated by demethylation and histone deacetylase inhibition in human colorectal cancer. (PubMed id 11992124)1, 2 Suzuki H.... Baylin S.B. (2002)
- Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
- Seizure 6-like (SEZ6L) gene and risk for lung cancer. (PubMed id 17804757)1, 7 Gorlov I.P....Amos C.I. (2007)
- Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease i n the atherosclerosis risk in communities study. (PubMed id 19955471)1 Bressler J....Boerwinkle E. (2010)
|
External Searches for SEZ6L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SEZ6L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SEZ6L gene
(According to HUGE)
About This Section
| |
Specialized Databases showing SEZ6L gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for SEZ6L gene:
Search GeneIP for patents involving SEZ6L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SEZ6L gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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| | | |
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 |  |  |  | |
| |  | Search Tocris compounds for SEZ6L |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for SEZ6L |
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