Aliases for PKP2 Gene
External Ids for PKP2 Gene
- HGNC: 9024
- Entrez Gene: 5318
- Ensembl: ENSG00000057294
- OMIM: 602861
- UniProtKB: Q99959
Previous GeneCards Identifiers for PKP2 Gene
- GC12M033434
- GC12M033020
- GC12M032844
- GC12M032835
- GC12M032834
- GC12M032943
- GC12M032696
Summaries for PKP2 Gene
-
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]
GeneCards Summary for PKP2 Gene
PKP2 (Plakophilin 2) is a Protein Coding gene. Diseases associated with PKP2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 and Arrhythmogenic Right Ventricular Cardiomyopathy. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include binding and protein kinase C binding. An important paralog of this gene is PKP1.
UniProtKB/Swiss-Prot for PKP2 Gene
-
May play a role in junctional plaques.
Additional gene information for PKP2 Gene
- Monarch Initiative
- Search for PKP2 at DataMed
- Search for PKP2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKP2 Gene
Genomics for PKP2 Gene
GeneHancer (GH) Regulatory Elements for PKP2 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH12I032891 | Promoter/Enhancer | 2.6 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 560.8 | +1.4 | 1377 | 8.7 | FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF213 FOS KLF13 SP3 | PKP2 BICD1 DNM1L LOC100420981 RPL35AP27 | |
GH12I032873 | Enhancer | 0.6 | ENCODE dbSUPER | 17.2 | +21.5 | 21480 | 2.8 | CEBPB CEBPG | PKP2 RPL35AP27 | |
GH12I032843 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 11.5 | +53.1 | 53075 | 1.1 | PRDM6 SCRT2 CEBPB | PKP2 GC12P032848 ENSG00000274976 | |
GH12I032856 | Enhancer | 0.4 | dbSUPER | 16.6 | +39.7 | 39731 | 0.7 | ZNF121 ZNF18 | PKP2 GC12P032861 GC12P032848 | |
GH12I032916 | Enhancer | 1 | FANTOM5 ENCODE | 6.2 | -22.7 | -22666 | 5.6 | FEZF1 RAD21 RFX5 ZNF335 ZNF121 FOS RCOR1 ZNF654 CEBPB REST | GC12P032918 PKP2 GC12P032966 |
Regulatory Element Products
Genomic Locations for PKP2 Gene
- chr12:32,790,745-32,896,846
- (GRCh38/hg38)
- Size:
- 106,102 bases
- Orientation:
- Minus strand
- chr12:32,943,679-33,049,780
- (GRCh37/hg19)
Genomic View for PKP2 Gene
- Cytogenetic band:
-
- 12p11.21 by Ensembl
- 12p11.21 by Entrez Gene
- 12p11.21 by HGNC


RefSeq DNA sequence for PKP2 Gene
Proteins for PKP2 Gene
-
Protein details for PKP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99959-PKP2_HUMAN
- Recommended name:
- Plakophilin-2
- Protein Accession:
- Q99959
- A0AV37
- B8QFA1
- B8QGS6
- B8QGS7
- D3DUW9
- Q4VC01
- Q99960
Protein attributes for PKP2 Gene
- Size:
- 881 amino acids
- Molecular mass:
- 97415 Da
- Quaternary structure:
-
- Interacts with DSC2. Interacts with JUP and DSP.
Protein Expression for PKP2 Gene
Post-translational modifications for PKP2 Gene
Other Protein References for PKP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Assay Products
No data available for DME Specific Peptides for PKP2 Gene
Domains & Families for PKP2 Gene
Gene Families for PKP2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for PKP2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PKP2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99959- Family:
-
- Belongs to the beta-catenin family.
Function for PKP2 Gene
Molecular function for PKP2 Gene
- GENATLAS Biochemistry:
- plakophilin 2,component of karyoplasm and desmosomal plaque protein of desmosomes in stratified epithelia,also expressed in the nucleus of non epithelial cells, homologous to Drosophila Armadillo segment polarity gene
- UniProtKB/Swiss-Prot Function:
- May play a role in junctional plaques.
Phenotypes From GWAS Catalog for PKP2 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005080 | protein kinase C binding | IPI | 18474624 |
GO:0005515 | protein binding | IPI | 10852826 |
GO:0017080 | sodium channel regulator activity | ISS | -- |
GO:0019215 | intermediate filament binding | IDA | 10852826 |
Phenotypes for PKP2 Gene
- MGI mutant phenotypes for PKP2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PKP2:
Animal Models for PKP2 Gene
- MGI Knock Outs for PKP2:
-
- Pkp2 tm1Wbm
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-
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miRNA for PKP2 Gene
- miRTarBase miRNAs that target PKP2
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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PKP2 Gene
Localization for PKP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PKP2 Gene
- Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes.
- Cell Junctions (4)
- Nucleoplasm (3)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001533 | cornified envelope | TAS | -- |
GO:0005634 | nucleus | NAS | 8922383 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005882 | intermediate filament | ISS,IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
Pathways & Interactions for PKP2 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
2 | Keratinization |
.33
|
|
3 | Developmental Biology | ||
4 | Cytoskeleton remodeling Neurofilaments |
Pathways by source for PKP2 Gene
1 BioSystems pathway for PKP2 Gene
3 Reactome pathways for PKP2 Gene
1 KEGG pathway for PKP2 Gene
1 GeneGo (Thomson Reuters) pathway for PKP2 Gene
Interacting Proteins for PKP2 Gene
Symbol | External ID(s) | Details |
---|---|---|
PB1 (XENO) | ||
MARK3 | ||
NDEL1 | ||
YWHAZ | ||
APC |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002159 | desmosome assembly | IMP | 18474624 |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007507 | heart development | ISS,IEA | -- |
GO:0008285 | negative regulation of cell proliferation | ISS | -- |
GO:0010765 | positive regulation of sodium ion transport | ISS | -- |
No data available for SIGNOR curated interactions for PKP2 Gene
Transcripts for PKP2 Gene
mRNA/cDNA for PKP2 Gene
- (2) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (166) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
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- genomics-online: shRNA clones - Search results for 116 available Plakophilin 2 gene related products
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- Applied Biological Materials Clones for PKP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - |
Expression for PKP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
-
Heart (Cardiovascular System)
- Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Gonad
- Primordial Germ Cells Allantois
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Bone (Muscoskeletal System)
- Eye (Sensory Organs)
- Adipose (Muscoskeletal System)
-
Colon (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for PKP2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PKP2 Gene
NURSA nuclear receptor signaling pathways regulating expression of PKP2 Gene:
PKP2SOURCE GeneReport for Unigene cluster for PKP2 Gene:
Hs.164384mRNA Expression by UniProt/SwissProt for PKP2 Gene:
Q99959-PKP2_HUMANEvidence on tissue expression from TISSUES for PKP2 Gene
- Liver(4.4)
- Nervous system(4.3)
- Heart(3.9)
- Muscle(3.3)
- Intestine(3.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PKP2 Gene
- ectoderm
- mesoderm
- cardiovascular
- nervous
- brain
- ear
- head
- heart
- heart valve
- blood
- blood vessel
- red blood cell
Primer Products
-
OriGene qPCR primer pairs for PKP2
Orthologs for PKP2 Gene
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PKP2 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | PKP2 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | PKP2 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
mouse (Mus musculus) |
Mammalia | Pkp2 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Pkp2 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | PKP2 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | PKP2 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | PKP2 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | pkp2 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | pkp2 33 34 |
|
- Species where no ortholog for PKP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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 PKP2 Gene
(5) SIMAP similar genes for PKP2 Gene using alignment to 3 proteins:
Pseudogenes.org Pseudogenes for PKP2 Gene
Variants for PKP2 Gene
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1046116 | benign, likely-benign, not specified, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy, ARVC | 32,869,000(-) | A/G | coding_sequence_variant, missense_variant | |
rs1046138 | likely-benign, Cardiomyopathy, ARVC | 32,791,228(-) | C/T | 3_prime_UTR_variant | |
rs1046150 | likely-benign, Cardiomyopathy, ARVC | 32,790,993(-) | C/T | 3_prime_UTR_variant | |
rs1046154 | likely-benign, Cardiomyopathy, ARVC | 32,790,861(-) | C/A | 3_prime_UTR_variant | |
rs1060501182 | pathogenic, Arrhythmogenic right ventricular cardiomyopathy, type 9 | 32,824,094(-) | A/ | coding_sequence_variant, frameshift |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv796n106 | CNV | deletion | 24896259 |
esv1043456 | CNV | deletion | 17803354 |
esv2485280 | CNV | deletion | 19546169 |
esv2745751 | CNV | deletion | 23290073 |
esv2745753 | CNV | deletion | 23290073 |
esv3252829 | CNV | deletion | 24192839 |
esv3549028 | CNV | deletion | 23714750 |
esv3629089 | CNV | loss | 21293372 |
esv4479 | CNV | loss | 18987735 |
esv8190 | CNV | loss | 19470904 |
nsv1070523 | CNV | deletion | 25765185 |
nsv516937 | CNV | loss | 19592680 |
nsv526287 | CNV | loss | 19592680 |
nsv958653 | CNV | deletion | 24416366 |
nsv976595 | CNV | duplication | 23825009 |
Additional Variant Information for PKP2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKP2 Gene
Disorders for PKP2 Gene

(14) MalaCards diseases for PKP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
arrhythmogenic right ventricular dysplasia, familial, 9 |
|
|
arrhythmogenic right ventricular cardiomyopathy |
|
|
familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
|
|
familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
|
|
familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
|
|
UniProtKB/Swiss-Prot
PKP2_HUMAN- Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:15489853, ECO:0000269 PubMed:19863551, ECO:0000269 PubMed:20031617, ECO:0000269 PubMed:22781308}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PKP2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PKP2 Gene
Publications for PKP2 Gene
- Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders? (PMID: 19955750) Christensen AH … Svendsen JH (Cardiology 2010) 3 4 22 44 58
- Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 20031617) den Haan AD … Judge DP (Circulation. Cardiovascular genetics 2009) 3 4 22 44 58
- Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. (PMID: 8922383) Mertens C … Franke WW (The Journal of cell biology 1996) 2 3 4 22 58
- Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C … Brugada R (Clinical genetics 2010) 3 4 44 58
- Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy. (PMID: 19302745) Wu SL … Deng M (Chinese medical journal 2009) 3 22 44 58
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- Overview of 116 available Plakophilin 2 gene related products
Sources for PKP2 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