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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEBOX Gene

protein-coding   GIFtS: 39
GCID: GC17M026691

SEBOX Homeobox

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SEBOX Homeobox1 2     OG92 5
Homeobox OG-92 3     OG-92
Skin-, Embryo-, Brain- And Oocyte-Specific Homeobox2 3     Homeobox Protein SEBOX2
OG9X2 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 Gene:
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)

GeneCards Summary for SEBOX Gene: 
SEBOX (SEBOX homeobox) is a protein-coding gene. Diseases associated with SEBOX include mouth disease, and thrombasthenia. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PROP1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins: NP_001074306.2  
ENSEMBL proteins: 
 ENSP00000452347   ENSP00000444503   ENSP00000395142   ENSP00000416240  

Human Recombinant Protein Products for SEBOX: 
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Cloud-Clone Corp. Proteins for SEBOX 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0005634nucleus IEA--

SEBOX for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
PRD: Homeoboxes / PRD class

2 InterPro protein domains:
 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


SEBOX for domains           About GeneDecksing


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

Molecular Function:

     UniProtKB/Swiss-Prot Summary: SEBOX_HUMAN, Q9HB31
Function: Probable transcription factor involved in the control of specification of mesoderm and endoderm (By
similarity)

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0003677DNA binding ----
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding IEA--
     
SEBOX for ontologies           About GeneDecksing


Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Sebox):
 vision/eye 

SEBOX for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Seboxtm1Clc for SEBOX

   inGenious Targeting Laboratory - Custom generated mouse model solutions for SEBOX 
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEBOX

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-dependent IEA--
GO:0006355regulation of transcription, DNA-dependent ----
GO:0007275multicellular organismal development ----
GO:0008150biological_process ND--
GO:0009792embryo development ending in birth or egg hatching IEA--

SEBOX for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
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
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000555059 ENST00000536498 ENST00000438614 ENST00000431468(uc010wai.1)

miRNA
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                     Customized lentivirus expression plasmids for stable overexpression of SEBOX 
Primer
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SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SEBOX
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEBOX
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEBOX

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)      SEBOX embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
SEBOX Expression
About this image


SEBOX expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/14 selected tissues (see all 14) fully expand
 
 Adrenal Gland (Endocrine System)    fully expand to see all 2 entries
         adrenal gland ; glandular cells   
         adrenal cortex   
 
 Colon (Gastrointestinal Tract)
         colon ; endothelial cells   
 
 Kidney (Urinary System)
         kidney ; cells in tubules   
 
 Lower Urinary Tract (Urinary System)
         visceral organ/urethra of male   
 
 Eye (Sensory Organs)
         Mature Rod Bipolar Cells Inner Nuclear Layer

Genevestigator expression for SEBOX

SOURCE GeneReport for Unigene cluster: Hs.728714
    SABiosciences Custom PCR Arrays for SEBOX
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEBOX

(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 chordates.

Orthologs for SEBOX gene from 4/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Sebox1 , 5 SEBOX homeobox1, 5 74.47(n)1
63.3(a)1
  11 (46.74 cM)5
182921  NM_008759.21  NP_032785.11 
 785034495 
chicken
(Gallus gallus)
Aves SEBOX1 SEBOX homeobox 57.14(n)
58.82(a)
  417567  XM_415813.3  XP_415813.3 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
52(a)
1 → many
GL343470.1(569004-573873)
zebrafish
(Danio rerio)
Actinopterygii sebox1 SEBOX homeobox 50.98(n)
48.82(a)
  282666  NM_173227.1  NP_775334.1 


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
PROP12  MIXL12  
4 SIMAP similar genes for SEBOX using alignment to 3 protein entries:     SEBOX_HUMAN (see all proteins):
VTN    PRG4    DUX2    NKX2-5

SEBOX for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

10/92 SNPs in SEBOX are shown (see all 92)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1450702001,2
C--26690799(+) AGAGGA/GGGCCC 1 -- ds50010--------
rs1906707381,2
--26690858(+) CTCTCC/TTCTCC 1 -- ds50010--------
rs1833389901,2
--26690916(+) AGACAA/GGAGCC 1 -- ds50010--------
rs743590451,2
F--26690917(+) GACAGG/CAGCCT 1 -- ds50011Minor allele frequency- C:0.01WA 118
rs1156162741,2
C,F--26691024(+) GGTACC/GACCTG 1 -- ds50011Minor allele frequency- G:0.03WA 118
rs1880775181,2
--26691147(+) GGATGC/TCTGAG 1 -- ds50010--------
rs1997449221,2
C--26691310(+) ATTGAC/TGACAA 2 I V mis10--------
rs99101631,2,4
C,F,A,H--26691321(+) TGGCCG/AAGGCA 2 /S /L mis132Minor allele frequency- A:0.11NS EA NA WA CSA EU 3182
rs2009921831,2
C--26691360(+) AAGTCC/TGGGGA 2 Q R mis10--------
rs2004609711,2
C--26691492(+) GACACA/GCTGAG 2 A V mis10--------

HapMap Linkage Disequilibrium report for SEBOX (26691290 - 26697373 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for SEBOX:    About this table     
Variant IDTypeSubtypePubMed ID
nsv519388CNV Loss19592680

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 610975    OMIM disorders: --

6 diseases for SEBOX:    About MalaCards
mouth disease    thrombasthenia    glanzmann's thrombasthenia    macular degeneration
age related macular degeneration    giant cell tumor

2 diseases from the University of Copenhagen DISEASES database for SEBOX:
Glanzmann's thrombasthenia     Melanoma

SEBOX for disorders           About GeneDecksing

Genetic Association Database (GAD): SEBOX
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

  1. Mouse Sebox homeobox gene expression in skin, brain, oocytes, and two-cell embryos. (PubMed id 10922053)1, 2, 3 Cinquanta M.... Nirenberg M. (2000)
  2. 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, 4 Bailey S.D....Anand S. (2010)
  3. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
  4. 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
 ANDOR
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
NameDescription
PharmGKB entry for SEBOX Pharmacogenomics, SNPs, Pathways

(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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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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 


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