Aliases for PADI2 Gene
Aliases for PADI2 Gene
External Ids for PADI2 Gene
- HGNC: 18341
- Entrez Gene: 11240
- Ensembl: ENSG00000117115
- OMIM: 607935
- UniProtKB: Q9Y2J8
Previous GeneCards Identifiers for PADI2 Gene
- GC01M017130
- GC01M016434
- GC01M016775
- GC01M016776
- GC01M017138
- GC01M017265
- GC01M017393
- GC01M015637
Summaries for PADI2 Gene
-
This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
GeneCards Summary for PADI2 Gene
PADI2 (Peptidyl Arginine Deiminase 2) is a Protein Coding gene. Diseases associated with PADI2 include Multiple Sclerosis and Alzheimer Disease. Among its related pathways are Innate Immune System and Chromatin organization. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein-arginine deiminase activity. An important paralog of this gene is PADI1.
UniProtKB/Swiss-Prot for PADI2 Gene
-
Catalyzes the deimination of arginine residues of proteins.
Additional gene information for PADI2 Gene
- Monarch Initiative
- Search for PADI2 at DataMed
- Search for PADI2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PADI2 Gene
Genomics for PADI2 Gene
GeneHancer (GH) Regulatory Elements for PADI2 Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01I017119 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE dbSUPER | 550.8 | -0.1 | -55 | 0.2 | CTCF PKNOX1 RB1 DDX20 BACH1 EBF1 POLR2A SCRT2 FOS KLF8 | PADI2 PIR46847 GC01M017106 GC01M017107 | |
GH01I017120 | Enhancer | 0.9 | ENCODE dbSUPER | 550.8 | -0.9 | -868 | 0.2 | CTCF HDGF RB1 ZNF223 KLF17 EBF1 ZIC2 ZFHX2 GLIS2 POLR2A | PADI2 PIR46847 GC01M017106 GC01M017107 | |
GH01I017117 | Enhancer | 0.7 | dbSUPER | 550.8 | +1.1 | 1078 | 1.9 | CTCF KLF1 PKNOX1 RB1 BACH1 EBF1 ZBTB48 POLR2A SCRT2 PRDM10 | PADI2 SDHB GC01M017106 GC01M017107 | |
GH01I017096 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 104.9 | +20.8 | 20848 | 3.4 | SMARCA5 PKNOX1 ZNF687 PHF21A KLF17 CEBPB ZMYM3 EBF1 ZIC2 ZNF341 | PADI2 PADI4 CROCCP2 SDHB | |
GH01I017087 | Enhancer | 0.6 | dbSUPER | 84.8 | +31.3 | 31300 | 1 | PKNOX1 FEZF1 ZIC2 ZNF121 ZNF664 OSR2 ZNF423 ZNF18 | PADI2 PADI4 SDHB |
Regulatory Element Products
Genomic Locations for PADI2 Gene
- chr1:17,066,761-17,119,453
- (GRCh38/hg38)
- Size:
- 52,693 bases
- Orientation:
- Minus strand
- chr1:17,393,256-17,445,948
- (GRCh37/hg19)
Genomic View for PADI2 Gene
- Cytogenetic band:
-
- 1p36.13 by Ensembl
- 1p36.13 by Entrez Gene
- 1p36.13 by HGNC


RefSeq DNA sequence for PADI2 Gene
Proteins for PADI2 Gene
-
Protein details for PADI2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y2J8-PADI2_HUMAN
- Recommended name:
- Protein-arginine deiminase type-2
- Protein Accession:
- Q9Y2J8
- Q96DA7
- Q9UPN2
Protein attributes for PADI2 Gene
- Size:
- 665 amino acids
- Molecular mass:
- 75564 Da
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA76838.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for PADI2 Gene
Protein Expression for PADI2 Gene
Selected DME Specific Peptides for PADI2 Gene
- Q9Y2J8:
-
- AQQVQAPV
- VSPPVTV
- HCGTNVRRKPF
- APWIMTP
- LGIPKPFGP
Post-translational modifications for PADI2 Gene
Other Protein References for PADI2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Domains & Families for PADI2 Gene
Gene Families for PADI2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for PADI2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PADI2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y2J8- Family:
-
- Belongs to the protein arginine deiminase family.
Function for PADI2 Gene
Molecular function for PADI2 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Protein L-arginine + H(2)O = protein L-citrulline + NH(3).
- UniProtKB/Swiss-Prot Function:
- Catalyzes the deimination of arginine residues of proteins.
Enzyme Numbers (IUBMB) for PADI2 Gene
Phenotypes From GWAS Catalog for PADI2 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004668 | protein-arginine deiminase activity | IDA | 12392711 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0030331 | estrogen receptor binding | IPI | 22853951 |
Phenotypes for PADI2 Gene
- MGI mutant phenotypes for PADI2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PADI2:
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miRNA for PADI2 Gene
- miRTarBase miRNAs that target PADI2
-
- hsa-mir-3678-3p (MIRT498280)
- hsa-mir-2467-3p (MIRT498281)
- hsa-mir-3158-5p (MIRT498282)
- hsa-mir-509-5p (MIRT498283)
- hsa-mir-509-3-5p (MIRT498284)
- hsa-mir-4418 (MIRT498285)
- hsa-mir-4643 (MIRT625829)
- hsa-mir-8485 (MIRT625830)
- hsa-mir-5006-3p (MIRT655537)
- hsa-mir-629-3p (MIRT655538)
- hsa-mir-4755-5p (MIRT655539)
- hsa-mir-6867-3p (MIRT655540)
- hsa-mir-4713-5p (MIRT655541)
- hsa-mir-211-5p (MIRT655542)
- hsa-mir-204-5p (MIRT655543)
- hsa-mir-623 (MIRT655544)
- hsa-mir-6826-3p (MIRT655545)
- hsa-mir-3128 (MIRT655546)
- hsa-mir-3667-3p (MIRT655547)
- hsa-mir-6734-3p (MIRT655548)
- hsa-mir-5088-3p (MIRT655549)
- hsa-mir-6795-3p (MIRT655550)
- hsa-mir-6887-3p (MIRT655551)
- hsa-mir-4728-5p (MIRT732773)
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No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PADI2 Gene
Localization for PADI2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PADI2 Gene
- Cytoplasm.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005634 | nucleus | IBA | -- |
GO:0005737 | cytoplasm | IDA | 12392711 |
GO:0005829 | cytosol | TAS | -- |
GO:0035327 | transcriptionally active chromatin | IDA | 22853951 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PADI2 Gene
Pathways & Interactions for PADI2 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
|
2 | Chromatin organization |
Pathways by source for PADI2 Gene
5 Reactome pathways for PADI2 Gene
Interacting Proteins for PADI2 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | TAS | -- |
GO:0010848 | regulation of chromatin disassembly | IDA | 22853951 |
GO:0018101 | protein citrullination | IDA | 12392711 |
GO:0021762 | substantia nigra development | HEP,IEP | 22926577 |
GO:0030520 | intracellular estrogen receptor signaling pathway | IMP | 22853951 |
No data available for SIGNOR curated interactions for PADI2 Gene
Transcripts for PADI2 Gene
mRNA/cDNA for PADI2 Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (78) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PADI2 Gene
CRISPR Products
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: |
Expression for PADI2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Monocytes Peripheral Blood
-
Eye (Sensory Organs)
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Epithelial Cells
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Brain (Nervous System)
- Oligodendrocyte Precursor Cells Forebrain White Matter
-
Colon (Gastrointestinal Tract)
-
Spinal Cord (Nervous System)
-
Skeletal Muscle (Muscoskeletal System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for PADI2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PADI2 Gene
NURSA nuclear receptor signaling pathways regulating expression of PADI2 Gene:
PADI2SOURCE GeneReport for Unigene cluster for PADI2 Gene:
Hs.33455Evidence on tissue expression from TISSUES for PADI2 Gene
- Nervous system(4.7)
- Skin(4.2)
- Pancreas(4.1)
- Muscle(3.1)
- Blood(2.3)
- Eye(2.1)
Primer Products
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No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PADI2 Gene
Orthologs for PADI2 Gene
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PADI2 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | PADI2 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | PADI2 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Padi2 33 |
|
||
mouse (Mus musculus) |
Mammalia | Padi2 33 16 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | PADI2 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | PADI2 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | PADI2 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | PADI2 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | padi2 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | padi2-prov 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | padi2 33 34 |
|
||
sbcb968 33 |
|
- Species where no ortholog for PADI2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for PADI2 Gene
Variants for PADI2 Gene
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000042855 | -- | 17,097,534(-) | G/A | genic_upstream_transcript_variant, intron_variant | |
rs1000146890 | -- | 17,086,644(-) | A/G | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant | |
rs1000192763 | -- | 17,081,891(-) | T/A | intron_variant | |
rs1000293448 | -- | 17,109,006(-) | G/C | genic_upstream_transcript_variant, intron_variant | |
rs1000321427 | -- | 17,104,231(-) | A/G | genic_upstream_transcript_variant, intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2422314 | CNV | duplication | 17116639 |
esv2758925 | CNV | gain+loss | 17122850 |
esv3305460 | CNV | mobile element insertion | 20981092 |
esv3310333 | CNV | mobile element insertion | 20981092 |
esv3585359 | CNV | gain | 21293372 |
nsv1009931 | CNV | gain | 25217958 |
nsv1076191 | CNV | deletion | 25765185 |
nsv1133818 | CNV | deletion | 24896259 |
nsv1137735 | CNV | deletion | 24896259 |
nsv1145323 | CNV | deletion | 24896259 |
nsv428421 | CNV | gain+loss | 18775914 |
nsv460662 | CNV | loss | 19166990 |
nsv545690 | CNV | gain | 21841781 |
nsv545691 | CNV | loss | 21841781 |
nsv834280 | CNV | loss | 17160897 |
Additional Variant Information for PADI2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PADI2 Gene
Disorders for PADI2 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple sclerosis |
|
|
alzheimer disease |
|
|
Additional Disease Information for PADI2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PADI2 Gene
Publications for PADI2 Gene
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- A two-stage case-control association study of PADI2 with schizophrenia. (PMID: 19478818) Watanabe Y … Someya T (Journal of human genetics 2009) 3 44 58
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
- Comparison of enzymatic properties between hPADI2 and hPADI4. (PMID: 15629448) Nakayama-Hamada M … Yamamoto K (Biochemical and biophysical research communications 2005) 3 22 58
- Regulation of the expression of peptidylarginine deiminase type II gene (PADI2) in human keratinocytes involves Sp1 and Sp3 transcription factors. (PMID: 15854045) Dong S … Takahara H (The Journal of investigative dermatology 2005) 22 25 58
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- Search ViGene Biosciences for PADI2
- Santa Cruz Biotechnology (SCBT) Antibodies for PADI2
- Search Santa Cruz Biotechnology (SCBT) for PADI2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PADI2
- Horizon Cell Lines for PADI2
- genomics-online: cdna clones - Search results for available PADI2 gene related products
- orf clones - Search results for available PADI2 gene related products
- genomics-online: gRNA clones - Search results for available PADI2 gene related products
- genomics-online: primer clones - Search results for available PADI2 gene related products
- genomics-online: shRNA clones - Search results for available PADI2 gene related products
Sources for PADI2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew