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

EMX1 Gene

protein-coding   GIFtS: 51
GCID: GC02P073148

Empty Spiracles Homeobox 1

(Previous name: empty spiracles homolog 1 (Drosophila))
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Empty Spiracles Homeobox 11 2
Empty Spiracles Homolog 12 3
Empty Spiracles-Like Protein 12 3
Empty Spiracles Homolog 1 (Drosophila)1
Homeobox Protein EMX12

External Ids:    HGNC: 33401   Entrez Gene: 20162   Ensembl: ENSG000001356387   OMIM: 6000345   UniProtKB: Q047413   
ORGUL members:         
NONCODE14:n335931 n338879      

Export aliases for EMX1 gene to outside databases

Previous GC identifers: GC02P073154 GC02P073356 GC02P073119 GC02P073056 GC02P072880 GC02P073144


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

GeneCards Summary for EMX1 Gene: 
EMX1 (empty spiracles homeobox 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with EMX1 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma. 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 NOTO.

UniProtKB/Swiss-Prot: EMX1_HUMAN, Q04741
Function: Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and
archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the
developing central nervous system

Gene Wiki entry for EMX1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EMX1 gene promoter:
         LHX3b/Lhx3b   Elk-1   POU3F1   NF-kappaB   S8   Nkx6-1   STAT3   LHX3a/Lhx3a   Pax-4a   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for EMX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EMX1


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

Entrez Gene cytogenetic band: 2p13.2   Ensembl cytogenetic band:  2p13.2   HGNC cytogenetic band: 2p13.2

EMX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EMX1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P073148:  view genomic region     (about GC identifiers)

Start:
73,143,389 bp from pter      End:
73,162,020 bp from pter
Size:
18,632 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for EMX1

(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: EMX1_HUMAN, Q04741 (See protein sequence)
Recommended Name: Homeobox protein EMX1  
Size: 257 amino acids; 28039 Da
Subcellular location: Nucleus. Cytoplasm. Note=Might be shuttling between the nucleus and the cytoplasm
Sequence caution: Sequence=AAH45762.2; Type=Erroneous initiation;
Secondary accessions: Q0D2P0 Q53T30 Q86XB0
Alternative splicing: 2 isoforms:  Q04741-1   Q04741-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EMX1: NX_Q04741

Explore proteomics data for EMX1 at MOPED 

EMX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

EMX1 Protein Expression

REFSEQ proteins: NP_004088.2  
ENSEMBL proteins: 
 ENSP00000258106   ENSP00000446992   ENSP00000449394  

Human Recombinant Protein Products for EMX1: 
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OriGene Protein Over-expression Lysate for EMX1
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OriGene Custom Protein Services for EMX1
GenScript Custom Purified and Recombinant Proteins Services for EMX1
Novus Biologicals EMX1 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for EMX1 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus NAS--
GO:0005737cytoplasm IEA--

EMX1 for ontologies           About GeneDecksing



EMX1 Antibody Products: 
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Abcam antibodies for EMX1
Cloud-Clone Corp. Antibodies for EMX1 
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LSBio Antibodies in human, mouse, rat for EMX1 

Assay Products for EMX1: 
Browse Kits and Assays available from EMD Millipore
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Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for EMX1
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for EMX1 
Cloud-Clone Corp. CLIAs for EMX1


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

4 InterPro protein domains:
 IPR017970 Homeobox_CS
 IPR020479 Homeobox_metazoa
 IPR001356 Homeodomain
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q04741

ProtoNet protein and cluster: Q04741

1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

UniProtKB/Swiss-Prot: EMX1_HUMAN, Q04741
Similarity: Belongs to the EMX homeobox family
Similarity: Contains 1 homeobox DNA-binding domain


EMX1 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: EMX1_HUMAN, Q04741
Function: Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and
archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the
developing central nervous system

     Genatlas biochemistry entry for EMX1:
Drosophila empty spiracles (ems) homolog 1,Dres93,mouse homolog expressed in optic cup in early embryo
(E9,5),homeo domain encoding gene involved in brain development

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding NAS--
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0005515protein binding IPI--
GO:0043565sequence-specific DNA binding IEA--
     
EMX1 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for EMX1:
 Decreased POU5F1-GFP protein e 

     15/20 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Emx1) (see all 20):
 behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
 endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  immune system 
 integument  mortality/aging  nervous system  no phenotypic analysis  normal 

EMX1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for EMX1: Emx1tm1Jlr Emx1tm1Sia

   inGenious Targeting Laboratory - Custom generated mouse model solutions for EMX1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EMX1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EMX1 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EMX1 

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EMX1
8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate EMX1 (see all 32):
hsa-miR-1287 hsa-miR-485-5p hsa-miR-3938 hsa-miR-875-3p hsa-miR-3194-5p hsa-miR-642a hsa-miR-146b-3p hsa-miR-330-5p
SwitchGear 3'UTR luciferase reporter plasmidEMX1 3' UTR sequence
Inhib. RNA
Products:
    
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OriGene RNAi products in human, mouse, rat for EMX1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EMX1

Gene Editing
Products:
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Sirion Biotech Customized adenovirus for overexpression of EMX1

Clone
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Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for EMX1 (see all 7)
OriGene ORF clones in mouse, rat for EMX1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: EMX1 (NM_004097)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for EMX1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMX1
Sirion Biotech Customized lentivirus for stable overexpression of EMX1 
                     Customized lentivirus expression plasmids for stable overexpression of EMX1 

Cell Line
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GenScript Custom overexpressing Cell Line Services for EMX1
Search LifeMap BioReagents cell lines for EMX1
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMX1


(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 EMX1

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/19 Interacting proteins for EMX1 (Q047413 ENSP000002581064) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
InteractantInteraction Details
GeneCardExternal ID(s)
GTF2A1LQ9UNN43, ENSP000003845974I2D: score=2 STRING: ENSP00000384597
ALX4Q9H1613, ENSP000003327444I2D: score=1 STRING: ENSP00000332744
TP63Q9H3D43, ENSP000002647314I2D: score=1 STRING: ENSP00000264731
HOXA10P312603, ENSP000002839214I2D: score=1 STRING: ENSP00000283921
POLR2DO155143, ENSP000002726454I2D: score=1 STRING: ENSP00000272645
About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006355regulation of transcription, DNA-dependent ----
GO:0007275multicellular organismal development NAS--
GO:0007420brain development ----
GO:0009791post-embryonic development IEA--
GO:0021796cerebral cortex regionalization IEA--

EMX1 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 EMX1

Search CenterWatch for drugs/clinical trials and news about EMX1

(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 EMX1 gene (2 alternative transcripts): 
NM_001040404.1  NM_004097.2  

Unigene Cluster for EMX1:

Empty spiracles homeobox 1
Hs.516090  [show with all ESTs]
Unigene Representative Sequence: NM_004097
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000394111 ENST00000258106(uc002sin.1) ENST00000473732 ENST00000491023
ENST00000464675
miRNA
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8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate EMX1 (see all 32):
hsa-miR-1287 hsa-miR-485-5p hsa-miR-3938 hsa-miR-875-3p hsa-miR-3194-5p hsa-miR-642a hsa-miR-146b-3p hsa-miR-330-5p
SwitchGear 3'UTR luciferase reporter plasmidEMX1 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for EMX1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EMX1
Clone
Products:
     
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OriGene ORF clones in mouse, rat for EMX1
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GenScript: all cDNA clones in your preferred vector: EMX1 (NM_004097)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for EMX1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMX1
Sirion Biotech Customized lentivirus for stable overexpression of EMX1 
                     Customized lentivirus expression plasmids for stable overexpression of EMX1 
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for EMX1
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EMX1
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EMX1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EMX1

Additional mRNA sequence: 

BC037242.1 BC045762.1 X68879.1 

5 DOTS entries:

DT.65288720  DT.75122555  DT.40287291  DT.65287743  DT.100746817 

24/28 AceView cDNA sequences (see all 28):

BC037242 AI767620 BE464231 CR592760 AI271966 CB156771 X68879 NM_004097 
AW614888 AL539399 AA775410 AW771596 BF476155 AI830463 BF515060 BI546426 
BI760910 AI925948 BC045762 BI752302 AI253122 BI757898 AL567823 AA579989 

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

EMX1 expression in normal human tissues (normalized intensities)      EMX1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCCCCACAGG
EMX1 Expression
About this image


EMX1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/8 selected tissues (see all 8) fully expand
 
 Brain (Nervous System)    fully expand to see all 16 entries
         Neocortical Progenitor Cells Cerebral Cortex
         Thalamus
         Septum   
 
 Neural Tube (Nervous System)    fully expand to see all 3 entries
         Neocortical Progenitor Cells Cerebral Cortex
         Telencephalon
 
 Gonad
         Secondary Oocyte Antral Follicle
 
 Ovary (Reproductive System)
         Secondary Oocyte Antral Follicle
 
 Kidney (Urinary System)

See EMX1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EMX1

SOURCE GeneReport for Unigene cluster: Hs.516090

UniProtKB/Swiss-Prot: EMX1_HUMAN, Q04741
Tissue specificity: Cerebral cortex

    SABiosciences Expression via Pathway-Focused PCR Array including EMX1: 
          Homeobox (HOX) Genes in human mouse rat

Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EMX1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMX1

(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 EMX1 gene from 7/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Emx11 , 5 empty spiracles homolog 1 (Drosophila)5
empty spiracles homeobox 11
91.18(n)1
96.5(a)1
  6 (37.21 cM)5
137961  NM_010131.21  NP_034261.11 
 851874385 
chicken
(Gallus gallus)
Aves EMX11 empty spiracles homeobox 1 81.26(n)
86.07(a)
  768977  XM_001232150.2  XP_001232151.2 
lizard
(Anolis carolinensis)
Reptilia EMX16
Uncharacterized protein
94(a)
possible ortholog
GL343814.1(25633-27745)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.52412 Transcribed sequence with strong similarity to protein more 81.76(n)    BX688458.1 
zebrafish
(Danio rerio)
Actinopterygii AF534523.12   -- 76.25(n)   378964  AF534523.1 
fruit fly
(Drosophila melanogaster)
Insecta E51 CG9930-PA 49.86(n)
43.8(a)
  45396  NM_080086.2  NP_524825.1 
worm
(Caenorhabditis elegans)
Secernentea ceh-26
cog-16
(see all 3)
Protein COG-1, isoform a
(see all 3)
26(a)
14(a)
(see all 3)
1 ↔ many
possible ortholog
(see all 3)
I(6046832-6050462)
II(14902493-14907533)


ENSEMBL Gene Tree for EMX1 (if available)
TreeFam Gene Tree for EMX1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for EMX1 gene
NOTO2  EN12  EMX22  VAX12  VAX22  EN22  
4 SIMAP similar genes for EMX1 using alignment to 4 protein entries:     EMX1_HUMAN (see all proteins):
EMX2    HLX    HHEX    POU6F1

EMX1 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

10/291 SNPs in EMX1 are shown (see all 291)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1841344681,2
C--73142663(+) CTGGGC/TTCCTG 1 -- us2k10--------
rs1897688721,2
C--73142767(+) GTTCCA/CACAAA 1 -- us2k10--------
rs1407844631,2
--73142811(+) AATCTC/TCTTCT 1 -- us2k10--------
rs2014805661,2
C--73142983(+) GGAGAC/GAGGAG 1 -- us2k10--------
rs134231861,2
C,F,H--73143056(+) ATCTCC/TGGAGA 1 -- us2k19Minor allele frequency- T:0.03NS EA NA WA 1208
rs1482194451,2
--73143079(+) CCCGCA/GCTCCC 1 -- us2k10--------
rs1131075471,2
C,F--73143400(+) CGCGGG/CGCACG 1 -- us2k11Minor allele frequency- C:0.50NA 2
rs1813728481,2
--73143483(+) ATGGAA/CCCCGG 1 -- us2k10--------
rs1857891331,2
--73143774(+) CAGGCG/TGCTTC 1 -- us2k10--------
rs1124718591,2
C,F--73143816(+) AGATGG/AGCTCG 1 -- us2k13Minor allele frequency- A:0.08CSA WA 122

HapMap Linkage Disequilibrium report for EMX1 (73143389 - 73162020 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for EMX1:    About this table     
Variant IDTypeSubtypePubMed ID
esv2677197CNV Deletion23128226
nsv874266CNV Loss21882294

SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing EMX1
DNA2.0 Custom Variant and Variant Library Synthesis for EMX1

(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: 600034    OMIM disorders: --

5 diseases for EMX1:    About MalaCards
intrahepatic cholangiocarcinoma    cholangiocarcinoma    choroiditis    cerebritis
neuronitis


EMX1 for disorders           About GeneDecksing


Export disorders for EMX1 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 EMX1 gene, integrated from 9 sources (see all 23):
(articles sorted by number of sources associating them with EMX1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Chromosome locations of human EMX and OTX genes. (PubMed id 7959790)1, 3, 9 Kastury K....Boncinelli E. (1994)
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
  3. 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)
  4. Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex. (PubMed id 1352754)1, 2 Simeone A....Boncinelli E. (1992)
  5. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallma nn syndrome. (PubMed id 20887964)2 Kim H.G....Layman L.C. (2010)
  6. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
  7. Emx1-lineage progenitors differentially contribute to neural diversity in the striatum and amygdala. (PubMed id 20016109)1 Cocas L.A....Corbin J.G. (2009)
  8. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)
  9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
  10. 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)

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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: 2016 HGNC: 3340 AceView: EMX1 Ensembl:ENSG00000135638 euGenes: HUgn2016
ECgene: EMX1 H-InvDB: EMX1

(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)
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NameDescription
PharmGKB entry for EMX1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
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Patent Information for EMX1 gene:
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