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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SEBOX Gene

protein-coding GIFtS: 36
GCID: GC17M026691

SEBOX homeobox

Explore 6 diseases affiliated with
SEBOX 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
SEBOX Homeobox¹ ²		Skin-, Embryo-, Brain- And Oocyte-Specific Homeobox² ³
OG9X¹ ² ³		OG-9²
OG9¹ ² ⁵		Homeobox Protein SEBOX²
Homeobox OG-9² ³

External Ids:	HGNC: 32942¹	Entrez Gene: 645832²	Ensembl: ENSG00000109072⁷	OMIM: 610975⁵	UniProtKB: Q9HB31³

Export aliases for SEBOX gene to outside databases

Previous GC identifer: GC17M023716

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

Entrez Gene summary for SEBOX:

Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et

al., 2000 (PubMed 10922053)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: SEBOX_HUMAN, Q9HB31

Function: Probable transcription factor involved in the control of specification of mesoderm and endoderm (By

similarity)

(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 SEBOX gene promoter:
p300 NRSF form 1 NF-kappaB NRSF form 2 ATF
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for SEBOX

Epigenetics:

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

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

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

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M026691: view genomic region (about GC identifiers)

Start:	26,691,290 bp from pter	End:	26,697,373 bp from pter
Size:	6,084 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: SEBOX_HUMAN, Q9HB31 (See protein sequence)

Recommended Name: Homeobox protein SEBOX

Size: 216 amino acids; 22879 Da

Subcellular location: Nucleus (By similarity)

Sequence caution: Sequence=AAG14458.1; Type=Frameshift; Positions=9; Sequence=EAW51081.1; Type=Erroneous gene model

prediction;

Explore the universe of human proteins at neXtProt for SEBOX: NX_Q9HB31

SEBOX Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_001074306.2

ENSEMBL proteins:

ENSP00000416240 ENSP00000444503 ENSP00000395142

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	Uscn Proteins for SEBOX

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005634	nucleus	IEA	--

SEBOX for ontologies About GeneDecksing

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

SEBOX for domains About GeneDecksing

2 InterPro domains/families:

IPR001356 Homeodomain

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q9HB31

ProtoNet protein and cluster: Q9HB31

UniProtKB/Swiss-Prot: SEBOX_HUMAN, Q9HB31

Similarity: Belongs to the paired homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

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

Function Summary:

UniProtKB/Swiss-Prot: SEBOX_HUMAN, Q9HB31

Function: Probable transcription factor involved in the control of specification of mesoderm and endoderm (By

similarity)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
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Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

SEBOX for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Sebox^tm1Clc for SEBOX
     1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Sebox):

vision/eye

SEBOX for phenotypes About GeneDecksing

(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 SEBOX

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:0006351	transcription, DNA-dependent	IEA	--
GO:0007275	multicellular organismal development	IEA	--
GO:0008150	biological_process	ND	--
GO:0030154	cell differentiation	IEA	--

SEBOX 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 SEBOX
Search CenterWatch for drugs/clinical trials and news about SEBOX

(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,
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About This Section

REFSEQ mRNAs for SEBOX gene (2 alternative transcripts):

NM_001083896.1 NM_001080837.2

Unigene Cluster for SEBOX:

SEBOX homeobox

Hs.728714

Unigene Representative Sequence: NM_001080837

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

ENST00000431468(uc010wai.1) ENST00000536498 ENST00000438614

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEBOX
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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

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

About this image

SEBOX expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Rod Bipolar Cells

Bipolar, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Genevestigator expression for SEBOX

SOURCE GeneReport for Unigene cluster: Hs.728714

SABiosciences Custom PCR Arrays for SEBOX

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In Situ
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(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 SEBOX gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SEBOX¹	SEBOX homeobox	57.14(n) 58.82(a)		417567 XM_415813.3 XP_415813.3
lizard (Anolis carolinensis)	Reptilia	SEBOX⁶	--	36(a)	1 ↔ 1	GL343470.1(576598-577054)
zebrafish (Danio rerio)	Actinopterygii	sebox¹	SEBOX homeobox	50.98(n) 48.82(a)		282666 NM_173227.1 NP_775334.1
worm (Caenorhabditis elegans)	Secernentea	ceh-54⁶	Protein CEH-54	14(a)	1 → many	X(6191555-6192913)

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

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

Paralogs for SEBOX gene

GSC² OTX2² HESX1² PROP1² ARGFX² DMBX1² GSC2² OTX1²

CRX² MIXL1²

2 SIMAP similar genes for SEBOX using alignment to 2 protein entries: SEBOX_HUMAN (see all proteins):

DUX2 NKX2-5

SEBOX 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
				--	--	--		--	--
rs145070200^1,2		--	26690799(+)	`AGAGGA/GGGCCC`	1	--	ds500¹		0	--	--	--	--
rs190670738^1,2		--	26690858(+)	`CTCTCC/TTCTCC`	1	--	ds500¹		0	--	--	--	--
rs183338990^1,2		--	26690916(+)	`AGACAA/GGAGCC`	1	--	ds500¹		0	--	--	--	--
rs74359045^1,2		--	26690917(+)	`GACAGG/CAGCCT`	1	--	ds500¹		1		WA	118
rs115616274^1,2	F,	--	26691024(+)	`GGTACC/GACCTG`	1	--	ds500¹		1		WA	118
rs188077518^1,2		--	26691147(+)	`GGATGC/TCTGAG`	1	--	ds500¹		0	--	--	--	--
rs9910163^1,2	C,F,A,H,	--	26691321(+)	`TGGCCG/AAGGCA`	2	/S /L	mis¹		32		NS EA NA WA CSA EU	3182
rs200992183^1,2	C,	--	26691360(+)	`AAGTCC/TGGGGA`	2	Q R	mis¹		0	--	--	--	--
rs200460971^1,2		--	26691492(+)	`GACACA/GCTGAG`	2	A V	mis¹		0	--	--	--	--
rs148939879^1,2	C,	--	26691583(+)	`AGAACA/TGGAGC`	2	S C	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SEBOX (26691290 - 26697373 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SEBOX: --

SABiosciences Cancer Mutation PCR Assays

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

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(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

SEBOX for disorders           About GeneDecksing

OMIM gene information: 610975    OMIM disorders: --

6 diseases for SEBOX:    About MalaCards

giant cell tumor macular degeneration

2 diseases from the University of Copenhagen DISEASES database for SEBOX:

Glanzmann's thrombasthenia Melanoma

Human Genome Epidemiology (HuGE) Navigator: SEBOX (3 documents)

Export disorders for SEBOX 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 SEBOX gene integrated from 9 sources:
(articles sorted by number of sources associating them with SEBOX)

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

Mouse Sebox homeobox gene expression in skin, brain, oocytes, and two-cell embryos. (PubMed id 10922053)^{1, 2, 3} Cinquanta M.... Nirenberg M. (2000)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)

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

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 645832	HGNC: 32942	Ensembl:ENSG00000109072	euGenes: HUgn645832	ECgene: SEBOX
H-InvDB: SEBOX

(According to HUGE)
About This Section

(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 SEBOX	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
About This Section


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Browse ProSpec Recombinant Proteins

SEBOX Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for SEBOX

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SEBOX

	Browse SwitchGear 3'UTR luciferase reporter plasmids for SEBOX
	Browse SwitchGear Promoter luciferase reporter plasmids for SEBOX

Search ThermoFisher Antibodies for SEBOX

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

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

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

Hot genes Disease genes SEBOX gene at Home site.

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SEBOX Gene

SEBOX homeobox

Aliases
for SEBOX gene

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for SEBOX gene

Genomic Views
for SEBOX gene

Proteins
for SEBOX gene

Protein Domains /
Families
for SEBOX gene

Function
for SEBOX gene

Pathways & Interactions
for SEBOX gene

Drugs & Compounds
for SEBOX gene

Transcripts
for SEBOX gene

Expression
for SEBOX gene

Orthologs
for SEBOX gene

Paralogs
for SEBOX gene

Genomic Variants
for SEBOX gene

Disorders / Diseases
for SEBOX gene

Publications
for SEBOX gene

External Searches for SEBOX gene

Genome Databases showing SEBOX gene

Other Databases showing SEBOX gene

Specialized Databases showing SEBOX gene

Intellectual Property
for SEBOX gene

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for SEBOX gene

View Random Gene

Advanced Search

Export list of displayed genes

SEBOX Gene

SEBOX homeobox

Aliasesfor SEBOX gene

Summariesfor SEBOX gene

Genomic Viewsfor SEBOX gene

Proteinsfor SEBOX gene

Protein Domains /Familiesfor SEBOX gene

Functionfor SEBOX gene

Pathways & Interactionsfor SEBOX gene

Drugs & Compoundsfor SEBOX gene

Transcriptsfor SEBOX gene

Expression for SEBOX gene

Orthologsfor SEBOX gene

Paralogsfor SEBOX gene

Genomic Variantsfor SEBOX gene

Disorders / Diseasesfor SEBOX gene

Publicationsfor SEBOX gene

External Searches for SEBOX gene

Genome Databases showing SEBOX gene

Other Databases showing SEBOX gene

Specialized Databases showing SEBOX gene

Intellectual Propertyfor SEBOX gene

Productsfor SEBOX gene

View Random Gene

Aliases
for SEBOX gene

Summaries
for SEBOX gene

Genomic Views
for SEBOX gene

Proteins
for SEBOX gene

Protein Domains /
Families
for SEBOX gene

Function
for SEBOX gene

Pathways & Interactions
for SEBOX gene

Drugs & Compounds
for SEBOX gene

Transcripts
for SEBOX gene

Expression
for SEBOX gene

Orthologs
for SEBOX gene

Paralogs
for SEBOX gene

Genomic Variants
for SEBOX gene

Disorders / Diseases
for SEBOX gene

Publications
for SEBOX gene

Intellectual Property
for SEBOX gene

Products
for SEBOX gene