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

EVX2 Gene

protein-coding   GIFtS: 42
GCID: GC02M176908

Even-Skipped Homeobox 2

(Previous names: eve, even-skipped homeobox homolog 2 (Drosophila))
  See related disease
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
Even-Skipped Homeobox 21 2
EVX-22 3
Eve, Even-Skipped Homeobox Homolog 2 (Drosophila)1
Eve, Even-Skipped Homeo Box Homolog 22
Even-Skipped Homeo Box 2 (Homolog Of Drosophila Eve)2
Homeobox Even-Skipped Homolog Protein 22

External Ids:    HGNC: 35071   Entrez Gene: 3441912   Ensembl: ENSG000001742797   OMIM: 1429915   UniProtKB: Q038283   

Export aliases for EVX2 gene to outside databases

Previous GC identifers: GC02U990026 GC02M175605 GC02M177147 GC02M176770 GC02M176653 GC02M168822


(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 EVX2 Gene:
This gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox
transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member
of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster,
which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease
resulting in limb malformation. (provided by RefSeq, Sep 2009)

GeneCards Summary for EVX2 Gene: 
EVX2 (even-skipped homeobox 2) is a protein-coding gene. Diseases associated with EVX2 include syndactyly. 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 MNX1.




(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  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EVX2 gene promoter:
         TBP   PPAR-gamma1   AP-1   ATF-2   c-Jun   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for EVX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EVX2


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

EVX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EVX2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M176908:  view genomic region     (about GC identifiers)

Start:
176,942,200 bp from pter      End:
176,948,690 bp from pter
Size:
6,491 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: EVX2_HUMAN, Q03828 (See protein sequence)
Recommended Name: Homeobox even-skipped homolog protein 2  
Size: 476 amino acids; 47800 Da
Subcellular location: Nucleus
Developmental stage: Expressed during early embryogenesis and neurogenesis in a biphasic manner

Explore the universe of human proteins at neXtProt for EVX2: NX_Q03828

Explore proteomics data for EVX2 at MOPED 

EVX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

EVX2 Protein Expression

REFSEQ proteins: NP_001073927.1  
ENSEMBL proteins: 
 ENSP00000312385  

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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:0005730NOT nucleolus IDA--

EVX2 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: 
HOXL: Homeoboxes / ANTP class : HOXL subclass

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

Graphical View of Domain Structure for InterPro Entry Q03828

ProtoNet protein and cluster: Q03828

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

UniProtKB/Swiss-Prot: EVX2_HUMAN, Q03828
Similarity: Belongs to the even-skipped homeobox family
Similarity: Contains 1 homeobox DNA-binding domain


EVX2 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:
     Genatlas biochemistry entry for EVX2:
Drosophila even-skipped pair rule gene homolog 2 (murine Evx2),homeo domain encoding gene,expressed in limbs

     Gene Ontology (GO): 3 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:0043565sequence-specific DNA binding IEA--
     
EVX2 for ontologies           About GeneDecksing


Phenotypes:
     8 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Evx2):
 embryogenesis  growth/size  limbs/digits/tail  mortality/aging  nervous system 
 no phenotypic analysis  reproductive system  skeleton 

EVX2 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for EVX2: Evx2/Hoxd13Evx2/tm3.1Ddu Evx2tm1Ddu Evx2/Hoxd13Evx2/tm2Ddu Evx2/Hoxd11/Hoxd12/Hoxd13Evx2/Hoxd11/Hoxd12/tm1Ddu Evx2/Hoxd13Evx2/tm3Ddu Evx2/Hoxd13Evx2/tm1Ddu

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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 EVX2

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006355regulation of transcription, DNA-dependent ----
GO:0008150biological_process ND--
GO:0035108limb morphogenesis IEA--

EVX2 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
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Browse Tocris compounds for EVX2

Search CenterWatch for drugs/clinical trials and news about EVX2

(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 EVX2 gene: 
NM_001080458.1  

Unigene Cluster for EVX2:

Even-skipped homeobox 2
Hs.452341  [show with all ESTs]
Unigene Representative Sequence: NM_001080458
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000308618(uc010zeu.2)
miRNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EVX2

1 DOTS entry:

DT.91921632 

1 AceView cDNA sequence:

BF057568 

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

EVX2 expression in normal human tissues (normalized intensities)      EVX2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATGACGCACG
EVX2 Expression
About this image


EVX2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/4 selected tissues (see all 4) fully expand
 
 Brain (Nervous System)    fully expand to see all 4 entries
         ganglion/cranial/facial VII   
 
 Neural Tube (Nervous System)    fully expand to see all 2 entries
         V0 Interneurons pV0 Neural Domain
         Metencephalon
 
 Peripheral Nervous System (Nervous System)
         spinal/ganglion/dorsal root ganglion   
 
 Spinal Cord (Nervous System)
         spinal/ganglion/dorsal root ganglion   

See EVX2 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.452341
    SABiosciences Custom PCR Arrays for EVX2
Primer
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OriGene qSTAR qPCR primer pairs in human, mouse for EVX2
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EVX2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EVX2

(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 EVX2 gene from 6/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Evx21 , 5 even skipped homeotic gene 2 homolog1, 5 88.35(n)1
95.13(a)1
  2 (44.13 cM)5
140291  NM_007967.21  NP_031993.11 
 746529975 
chicken
(Gallus gallus)
Aves EVX26
even-skipped homeobox 2
62(a)
1 ↔ 1
7(15833129-15835917)
lizard
(Anolis carolinensis)
Reptilia EVX26
Uncharacterized protein
65(a)
1 ↔ 1
GL343356.1(628378-632437)
zebrafish
(Danio rerio)
Actinopterygii evx22 even-skipped homeobox 2 76.28(n)   30479  NM_131232.1 
fruit fly
(Drosophila melanogaster)
Insecta eve3 blastoderm segmentation specific RNA
polymerase more
71(a)   46C10   --
worm
(Caenorhabditis elegans)
Secernentea vab-76
Homeobox protein vab-7
32(a)
1 → many
III(10920336-10926041)


ENSEMBL Gene Tree for EVX2 (if available)
TreeFam Gene Tree for EVX2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for EVX2 gene
MNX12  EVX12  MEOX12  GBX12  MEOX22  GBX22  
1 SIMAP similar gene for EVX2 using alignment to 1 protein entry:     EVX2_HUMAN:
EVX1

EVX2 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

10/140 SNPs in EVX2 are shown (see all 140)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1886040671,2
--176339341(+) CGCACA/TGCATC 1 -- ds50010--------
rs8471421,2
C,F--176339626(-) CCGAAG/AGGAAC 1 -- ds50011Minor allele frequency- A:0.07WA 118
rs789382161,2
F--176339697(+) CTCAGG/CGGGCG 1 -- ds50011Minor allele frequency- C:0.06WA 118
rs730299211,2
C,F--176339708(+) CACAGG/AGGACT 1 -- ds50011Minor allele frequency- A:0.14WA 118
rs1998440251,2
--176339727(+) CACTCA/GGAGAG 1 -- ds50010--------
rs2018353661,2
C--176339786(+) GCCTCC/GTCCCT 2 D E mis10--------
rs18681011,2
C,A--176339942(-) ggcggC/Tggtgg 2 G syn1 ese30--------
rs1836772451,2
C--176340106(+) GGCTGC/GCGCGG 2 P A mis10--------
rs2008443471,2
C--176340233(+) CGGAAC/GGTGTC 2 T syn10--------
rs1442291891,2
F--176340348(+) GCAGCG/TGCACG 2 Q P mis11Minor allele frequency- T:0.00NA 2344

HapMap Linkage Disequilibrium report for EVX2 (176942200 - 176948690 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for EVX2:    About this table     
Variant IDTypeSubtypePubMed ID
nsv520227CNV Loss19592680
nsv875437CNV Loss21882294
dgv4368n71CNV Loss21882294
nsv527187CNV Loss19592680
nsv517968CNV Loss19592680
nsv875438CNV Loss21882294
dgv676n67CNV Gain20364138

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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: 142991    OMIM disorders: --

2 diseases for EVX2:    About MalaCards
syndactyly    

1 disease from the University of Copenhagen DISEASES database for EVX2:
Syndactyly

EVX2 for disorders           About GeneDecksing


Export disorders for EVX2 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 EVX2 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with EVX2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2. (PubMed id 1675198)1, 2, 3 D'Esposito M....Boncinelli E. (1991)
  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. Genome-wide association study of periodontal pathogen colonization. (PubMed id 22699663)1 Divaris K....Offenbacher S. (2012)
  4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
  5. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. (PubMed id 11778160)1 Goodman F.R....Scambler P.J. (2002)
  6. NotI flanking sequences: a tool for gene discovery and verification of the human genome. (PubMed id 12136098)1 Kutsenko A.S....Zabarovsky E.R. (2002)
  7. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
  8. Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1. (PubMed id 11060466)1 Limongi M.Z....Rocchi A. (2000)
  9. Two cases with interstitial deletions of chromosome 2 and sex reversal in one. (PubMed id 10440834)1 Slavotinek A....Kingston H. (1999)
  10. Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. (PubMed id 7581388)1 Sarfarazi M....Sayli B.S. (1995)

(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: 344191 HGNC: 3507 AceView: LOC344191 Ensembl:ENSG00000174279 euGenes: HUgn344191
ECgene: EVX2 H-InvDB: EVX2

(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 EVX2 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 EVX2 gene:
Search GeneIP for patents involving EVX2

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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 Proteins for EVX2
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Customized transgenic rodents for:
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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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(GIFtS: 73)
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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