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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SEZ6 Gene

protein-coding GIFtS: 48
GCID: GC17M027281

seizure related 6 homolog (mouse)

(Previous name: seizure related gene 6 (mouse) homolog )

Explore 3 diseases affiliated with
SEZ6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Seizure Related 6 Homolog (Mouse)¹ ²
SEZ-6² ³
HSEZ-6¹
Seizure Related Gene 6 (Mouse) Homolog¹
Seizure Protein 6 Homolog²

External Ids:	HGNC: 15955¹	Entrez Gene: 124925²	Ensembl: ENSG00000063015⁷	UniProtKB: Q53EL9³

Export aliases for SEZ6 gene to outside databases

Previous GC identifers: GC17M027129 GC17M029181 GC17M027427 GC17M024306 GC17M023490

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: SEZ6_HUMAN, Q53EL9

Function: May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the

achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex

dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity)

Gene Wiki entry for SEZ6

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010799.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SEZ6 gene promoter:
E2F-4 E2F-3a USF1 E2F-5 E2F-2 Roaz E2F E2F-1 USF-1 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SEZ6 promoter sequence

Search SABiosciences Chromatin IP Primers for SEZ6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEZ6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2 Ensembl cytogenetic band: 17q11.2 HGNC cytogenetic band: 17q11.2

SEZ6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEZ6 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M027281: view genomic region (about GC identifiers)

Start:	27,281,919 bp from pter	End:	27,333,458 bp from pter
Size:	51,540 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SEZ6_HUMAN, Q53EL9 (See protein sequence)

Recommended Name: Seizure protein 6 homolog precursor

Size: 994 amino acids; 107425 Da

Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity). Note=Localized on dendrites

and in the synaptic and postsynaptic fraction (By similarity)

Sequence caution: Sequence=AAK71497.1; Type=Frameshift; Positions=902, 911; Sequence=AAM22213.1; Type=Frameshift;

Positions=902, 911; Sequence=BAB70826.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAB70912.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: B6ZDN1 Q8N701 Q8NB57 Q8ND50 Q8TD25 Q96NI5 Q96NQ3

Alternative splicing: 4 isoforms: Q53EL9-1 Q53EL9-2 Q53EL9-3 Q53EL9-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEZ6: NX_Q53EL9

Post-translational modifications:

Glycosylated (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q53EL9

SEZ6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001092105.1 NP_849191.3

ENSEMBL proteins:

ENSP00000353440 ENSP00000437650 ENSP00000312942 ENSP00000440764 ENSP00000443255

ENSP00000440216 ENSP00000403784 ENSP00000443589 ENSP00000466107 ENSP00000337407

Human Recombinant Protein Products for SEZ6:

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	GenScript Custom Purified and Recombinant Proteins Services for SEZ6
	Novus Biologicals SEZ6 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SEZ6

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0043197	dendritic spine	IEA	--
GO:0043198	dendritic shaft	IEA	--

SEZ6 for ontologies About GeneDecksing

SEZ6 Antibody Products:

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	Novus Biologicals SEZ6 Antibodies
	Abcam antibodies for SEZ6
	Uscn Antibodies for SEZ6
	Search ThermoFisher Antibodies for SEZ6

Assay Products for SEZ6:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SEZ6
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SEZ6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SEZ6 for domains About GeneDecksing

2 InterPro domains/families:

IPR000859 CUB_dom

IPR000436 Sushi_SCR_CCP

Graphical View of Domain Structure for InterPro Entry Q53EL9

ProtoNet protein and cluster: Q53EL9

2 Blocks protein families:

IPB000436 Sushi domain/SCR domain/CCP module

IPB000859 CUB domain

UniProtKB/Swiss-Prot: SEZ6_HUMAN, Q53EL9

Similarity: Belongs to the SEZ6 family

Similarity: Contains 2 CUB domains

Similarity: Contains 5 Sushi (CCP/SCR) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SEZ6_HUMAN, Q53EL9

Function: May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the

achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex

dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity)

Phenotypes:
1 GenomeRNAi human phenotype for SEZ6:

Increased gamma-H2AX phosphory

3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Sez6):

behavior/neurological

nervous system

normal

SEZ6 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for SEZ6: Sez6^tm1.1Sest Sez6^tm1Hta

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SEZ6

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SEZ6 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEZ6
		8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SEZ6 (see all 21):
		hsa-miR-323-3p hsa-miR-330-5p hsa-miR-520d-5p hsa-miR-374c hsa-miR-9 hsa-miR-149 hsa-miR-654-5p hsa-miR-326

		SwitchGear 3'UTR luciferase reporter plasmid: SEZ6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEZ6 (see all 4) OriGene shRNA RFP: SEZ6 OriGene siRNA: SEZ6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEZ6
		Sirion Biotech Custom design and validation of potent shRNA sequences against SEZ6

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for SEZ6
			Sirion Biotech Customized adenovirus for overexpression of SEZ6 Sirion Biotech Customized adenovirus for potent knockdown of SEZ6

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SEZ6 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SEZ6 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 6): SEZ6 (NM_001184775)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEZ6
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEZ6

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SEZ6
		Search LifeMap BioReagents cell lines for SEZ6
		Sirion Biotech Customized stable knockdown cell line services for SEZ6 Sirion Biotech Customized inducible knockdown cell line services for SEZ6 Sirion Biotech Customized stable overexpressing cell line services for SEZ6 Sirion Biotech Customized inducible overexpressing cell line services for SEZ6

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEZ6

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SEZ6

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for SEZ6 (Q53EL9^{2, 3} ENSP00000353440⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHDH	Q8NE62²^,³, ENSP00000319851⁴	MINT-8252527 I2D: score=2 STRING: ENSP00000319851
TNK2	Q07912²^,³, ENSP00000371341⁴	MINT-64706 I2D: score=3 STRING: ENSP00000371341

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0050773	regulation of dendrite development	--	--
GO:0060079	regulation of excitatory postsynaptic membrane potential	IEA	--
GO:1900006	positive regulation of dendrite development	IEA	--
GO:2000171	negative regulation of dendrite development	IEA	--

SEZ6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SEZ6
Search CenterWatch for drugs/clinical trials and news about SEZ6

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SEZ6 gene (2 alternative transcripts):

NM_001098635.1 NM_178860.4

Unigene Cluster for SEZ6:

Seizure related 6 homolog (mouse)

Hs.21837 [show with all ESTs]

Unigene Representative Sequence: AF502129

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000360295 ENST00000540632 ENST00000317338(uc002hdp.2 uc002hdq.1)

ENST00000540419 ENST00000538978 ENST00000535262 ENST00000442608(uc002hdm.2 uc010cry.1)

ENST00000544224 ENST00000539265 ENST00000585644 ENST00000335960(uc010crz.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SEZ6 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEZ6
		8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SEZ6 (see all 21):
		hsa-miR-323-3p hsa-miR-330-5p hsa-miR-520d-5p hsa-miR-374c hsa-miR-9 hsa-miR-149 hsa-miR-654-5p hsa-miR-326

		SwitchGear 3'UTR luciferase reporter plasmid: SEZ6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEZ6 (see all 4) OriGene shRNA RFP: SEZ6 OriGene siRNA: SEZ6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEZ6
		Sirion Biotech Custom design and validation of potent shRNA sequences against SEZ6

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SEZ6 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SEZ6 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 6): SEZ6 (NM_001184775)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEZ6
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEZ6

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SEZ6 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SEZ6
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEZ6
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEZ6

Additional cDNA sequence:

AF502129.1 AF502130.1 AK054913.1 AK055383.1 AK091522.1 AK096473.1 AK125377.1 AK223620.1

AL834405.1 AY038048.1 BC069260.1

7 DOTS entries:

DT.112039 DT.424860 DT.100021333 DT.120953596 DT.120953612 DT.95249665 DT.92415039

24/78 AceView cDNA sequences (see all 78):

BM354035 AK125377 BU182103 F02105 AX747037 AI815414 AK096473 AL834405

AA322958 BQ187837 BF594084 AK091522 CR603576 AA488106 F05862 AK054913

BM717496 AI419465 CK820017 AI458144 AK055383 AF502130 BF530859 BQ881701

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SEZ6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SEZ6 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Brain

Diencephalic Ventricular Zone

Neural Tube

Diencephalon

Neural Tube

Telencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SEZ6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SEZ6

SOURCE GeneReport for Unigene cluster: Hs.21837

SABiosciences Custom PCR Arrays for SEZ6

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SEZ6 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEZ6

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEZ6

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SEZ6 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SEZ6¹	seizure related 6 homolog (mouse)	70.18(n) 67.23(a)		426388 XM_424040.3 XP_424040.3
lizard (Anolis carolinensis)	Reptilia	SEZ6⁶	--	67(a)	1 ↔ 1	AAWZ02041184(642-4129)
zebrafish (Danio rerio)	Actinopterygii	CR589948.1⁶ sez6a⁶	seizure related 6 homolog a	47(a) 46(a)	1 ↔ many 1 ↔ many	15(23566726-23902584) 10(38161514-38260443)
worm (Caenorhabditis elegans)	Secernentea	T07H6.4⁶	Protein T07H6.4	9(a)	possible ortholog	X(6281881-6286136)

ENSEMBL Gene Tree for SEZ6 (if available)
TreeFam Gene Tree for SEZ6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SEZ6 gene

CSMD1² SEZ6L2² SELP² C4BPA² CR2² SELL² CR1L² CSMD3²

SELE² SEZ6L² CSMD2² CR1² CD55² CD46² SVEP1²

6 SIMAP similar genes for SEZ6 using alignment to 8 protein entries: SEZ6_HUMAN (see all proteins):

SEZ6L SEZ6L2 NRP2 CUBN NRP1 SCUBE2

SEZ6 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12451190^1,2	C,F,A,H	--	27281877(+)	`TATCTC/GCCACC`	2	--	int¹		10		NA WA CSA EA	374
rs183193491^1,2		--	27281887(+)	`CTCCCA/GTCCCT`	2	--	int¹		0	--	--	--	--
rs10712201^1,2	C	--	27281923(+)	`tttttT/-ttttt`	2	--	ut3¹		1		NA	2
rs4795478^1,2	C,A,H	--	27281980(+)	`CAACAG/AAAATA`	2	--	ut3¹ ese³		5		NS EA NA	418
rs2200779^1,2	A,H	--	27282136(+)	`CTCCAG/AAATAT`	2	--	ut3¹		6		NS EA NA	422
rs2200780^1,2	H	--	27282231(+)	`GTGAAG/AATGTT`	2	--	ut3¹		4		NS EA	416
rs16964681^1,2	C,F,H	--	27282236(+)	`GATGTT/GTGCAA`	2	--	ut3¹		15		NA NS EA WA	1528
rs149679019^1,2		--	27282261(+)	`TCGGAA/GGAAAG`	2	--	ut3¹		0	--	--	--	--
rs2200781^1,2	C,H	--	27282308(+)	`AATGGC/TGTGTC`	2	--	ut3¹		8		NS EA NA WA	716
rs111255430^1,2	C	--	27282426(+)	`GGGCAG/-GAGGC`	2	--	ut3¹		1		CSA	2

HapMap Linkage Disequilibrium report for SEZ6 (27281919 - 27333458 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SEZ6: --
Human Gene Mutation Database (HGMD): SEZ6

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEZ6

DNA2.0 Custom Variant and Variant Library Synthesis for SEZ6

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SEZ6 for disorders About GeneDecksing

3 diseases for SEZ6: About MalaCards

seizures febrile seizures neuronitis

Export disorders for SEZ6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SEZ6 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with SEZ6)

Utopia: connect your pdf to the dynamic
world of online information

Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene. (PubMed id 17086543)^{1, 2, 3} Yu Z.L....Bao G.S. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins. (PubMed id 23234360)² Halim A.... Nilsson J. (2013)
A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Localized expression of the seizure-related gene SEZ-6 in developing and adult forebrains. (PubMed id 12351182)¹ Kim M.H....Tan S.S. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 124925	HGNC: 15955	AceView: SEZ6	Ensembl:ENSG00000063015	euGenes: HUgn124925
ECgene: SEZ6	H-InvDB: SEZ6

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SEZ6	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SEZ6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SEZ6 gene:
Search GeneIP for patents involving SEZ6

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SEZ6
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Search for Antibodies & Assays

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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEZ6

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Search ThermoFisher Antibodies for SEZ6

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEZ6

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Sirion Biotech Customized:

	stable knockdown cell line services for SEZ6
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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SEZ6 Gene

seizure related 6 homolog (mouse)

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SEZ6 Gene

seizure related 6 homolog (mouse)

Aliasesfor SEZ6 gene

Summariesfor SEZ6 gene

Genomic Viewsfor SEZ6 gene

Proteinsfor SEZ6 gene

Protein Domains /Familiesfor SEZ6 gene

Functionfor SEZ6 gene

Pathways & Interactionsfor SEZ6 gene

Drugs & Compoundsfor SEZ6 gene

Transcriptsfor SEZ6 gene

Expression for SEZ6 gene

Orthologsfor SEZ6 gene

Paralogsfor SEZ6 gene

Genomic Variantsfor SEZ6 gene

Disorders / Diseasesfor SEZ6 gene

Publicationsfor SEZ6 gene

External Searches for SEZ6 gene

Genome Databases showing SEZ6 gene

Other Databases showing SEZ6 gene

Specialized Databases showing SEZ6 gene

Intellectual Propertyfor SEZ6 gene

Productsfor SEZ6 gene

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Aliases
for SEZ6 gene

Summaries
for SEZ6 gene

Genomic Views
for SEZ6 gene

Proteins
for SEZ6 gene

Protein Domains /
Families
for SEZ6 gene

Function
for SEZ6 gene

Pathways & Interactions
for SEZ6 gene

Drugs & Compounds
for SEZ6 gene

Transcripts
for SEZ6 gene

Expression
for SEZ6 gene

Orthologs
for SEZ6 gene

Paralogs
for SEZ6 gene

Genomic Variants
for SEZ6 gene

Disorders / Diseases
for SEZ6 gene

Publications
for SEZ6 gene

Intellectual Property
for SEZ6 gene

Products
for SEZ6 gene