Aliases for PHOX2B Gene
Aliases for PHOX2B Gene
External Ids for PHOX2B Gene
- HGNC: 9143
- Entrez Gene: 8929
- Ensembl: ENSG00000109132
- OMIM: 603851
- UniProtKB: Q99453
Previous HGNC Symbols for PHOX2B Gene
- PMX2B
Previous GeneCards Identifiers for PHOX2B Gene
- GC04M042029
- GC04M041596
- GC04M041661
- GC04M041587
- GC04M041440
- GC04M041068
Summaries for PHOX2B Gene
-
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]
GeneCards Summary for PHOX2B Gene
PHOX2B (Paired Like Homeobox 2b) is a Protein Coding gene. Diseases associated with PHOX2B include Central Hypoventilation Syndrome, Congenital and Neuroblastoma 2. Among its related pathways are Neural Crest Differentiation and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is PHOX2A.
UniProtKB/Swiss-Prot for PHOX2B Gene
-
Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.
Additional gene information for PHOX2B Gene
- Monarch Initiative
- Search for PHOX2B at DataMed
- Search for PHOX2B at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHOX2B Gene
Genomics for PHOX2B Gene
GeneHancer (GH) Regulatory Elements for PHOX2B 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH04I041746 | Promoter/Enhancer | 1.6 | UCNEbase EPDnew ENCODE | 550.8 | -0.1 | -76 | 5.4 | CTCF PKNOX1 SUZ12 FEZF1 POLR2A ZSCAN5C RCOR1 CHD2 EZH2 L3MBTL2 | ENSG00000249122 PHOX2B LOC105374425 | |
GH04I041873 | Enhancer | 0.5 | FANTOM5 | 30.8 | -125.1 | -125111 | 0.4 | POLR2A CTBP2 RCOR1 CHD2 EZH2 | PHOX2B LOC105374421 LIMCH1 LOC105374425 ENSG00000249122 LINC00682 HMGB1P28 | |
GH04I041709 | Enhancer | 0.9 | ENCODE | 11.1 | +38.7 | 38707 | 1.8 | ATF1 INSM2 KLF17 MZF1 ZNF76 FEZF1 ZNF2 BRCA1 ZNF335 ZNF213 | LIMCH1 LOC105374425 PHOX2B ENSG00000249122 RNU1-49P LOC105374421 OR5M14P | |
GH04I041884 | Enhancer | 1 | FANTOM5 ENCODE | 7.4 | -135.6 | -135606 | 1 | PKNOX1 FOXA2 RAD21 RARA YY1 RCOR1 MIXL1 RXRA REST NFIL3 | LINC00682 PHOX2B ENSG00000249887 LOC105374426 | |
GH04I041878 | Enhancer | 0.4 | FANTOM5 | 18.2 | -130.1 | -130073 | 0.3 | CTBP2 EZH2 | PHOX2B LINC00682 HMGB1P28 |
Regulatory Element Products
Genomic Locations for PHOX2B Gene
- chr4:41,744,082-41,748,970
- (GRCh38/hg38)
- Size:
- 4,889 bases
- Orientation:
- Minus strand
- chr4:41,746,099-41,750,987
- (GRCh37/hg19)
Genomic View for PHOX2B Gene
- Cytogenetic band:
-
- 4p13 by Ensembl
- 4p13 by Entrez Gene
- 4p13 by HGNC


RefSeq DNA sequence for PHOX2B Gene
Proteins for PHOX2B Gene
-
Protein details for PHOX2B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99453-PHX2B_HUMAN
- Recommended name:
- Paired mesoderm homeobox protein 2B
- Protein Accession:
- Q99453
- Q6PJD9
Protein attributes for PHOX2B Gene
- Size:
- 314 amino acids
- Molecular mass:
- 31621 Da
- Quaternary structure:
-
- Interacts with TRIM11.
Protein Expression for PHOX2B Gene
Post-translational modifications for PHOX2B Gene
Other Protein References for PHOX2B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
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Assay Products
No data available for DME Specific Peptides for PHOX2B Gene
Domains & Families for PHOX2B Gene
Gene Families for PHOX2B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for PHOX2B Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PHOX2B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99453- Family:
-
- Belongs to the paired homeobox family.
Function for PHOX2B Gene
Molecular function for PHOX2B Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.
Phenotypes From GWAS Catalog for PHOX2B Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 16280598 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 16144830 |
GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 16144830 |
GO:0003677 | DNA binding | IEA | -- |
GO:0043565 | sequence-specific DNA binding | IEA | -- |
Phenotypes for PHOX2B Gene
- MGI mutant phenotypes for PHOX2B:
- inferred from 8 alleles
- GenomeRNAi human phenotypes for PHOX2B:
Animal Models for PHOX2B Gene
- MGI Knock Outs for PHOX2B:
-
- Phox2b tm1Jbr
Animal Model Products
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miRNA for PHOX2B Gene
- miRTarBase miRNAs that target PHOX2B
miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
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Cell Line Products
-
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-
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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PHOX2B Gene
Localization for PHOX2B Gene
Subcellular locations from UniProtKB/Swiss-Prot for PHOX2B Gene
- Nucleus.
- Nucleoplasm (4)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA | 16280598 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
Pathways & Interactions for PHOX2B Gene
Pathways by source for PHOX2B Gene
2 BioSystems pathways for PHOX2B Gene
Interacting Proteins for PHOX2B Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001764 | neuron migration | ISS,IEA | -- |
GO:0002087 | regulation of respiratory gaseous exchange by neurological system process | IEA,ISS | -- |
GO:0003357 | noradrenergic neuron differentiation | IEA,ISS | -- |
GO:0003358 | noradrenergic neuron development | ISS,IEA | -- |
GO:0003360 | brainstem development | IEP | 12640453 |
Drugs & Compounds for PHOX2B Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cyclic amp | Experimental | Pharma | 0 |
Transcripts for PHOX2B Gene
mRNA/cDNA for PHOX2B Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (18) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PHOX2B Gene
CRISPR Products
-
OriGene CRISPR knockouts for PHOX2B
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-
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-
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miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
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Expression for PHOX2B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for PHOX2B Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHOX2B Gene
NURSA nuclear receptor signaling pathways regulating expression of PHOX2B Gene:
PHOX2BSOURCE GeneReport for Unigene cluster for PHOX2B Gene:
Hs.87202mRNA Expression by UniProt/SwissProt for PHOX2B Gene:
Q99453-PHX2B_HUMANEvidence on tissue expression from TISSUES for PHOX2B Gene
- Nervous system(4.5)
- Adrenal gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PHOX2B Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- outer ear
- skull
- chest wall
- clavicle
- diaphragm
- heart
- lung
- rib
- rib cage
- scapula
- sternum
- adrenal gland
- intestine
- kidney
- large intestine
- small intestine
- pelvis
- rectum
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
- blood
- blood vessel
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for PHOX2B
-
OriGene qPCR primer pairs for PHOX2B
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No data available for Protein tissue co-expression partners for PHOX2B Gene
Orthologs for PHOX2B Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PHOX2B 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | PHOX2B 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | PHOX2B 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | PHOX2B 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Phox2b 33 16 34 |
|
||
chicken (Gallus gallus) |
Aves | PHOX2B 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | PHOX2B 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | phox2b 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32231 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | phox2bb 33 34 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | PHDP 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | ceh-17 34 |
|
OneToMany |
- Species where no ortholog for PHOX2B 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)
- 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)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- 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)
Paralogs for PHOX2B Gene
Paralogs for PHOX2B Gene
(13) SIMAP similar genes for PHOX2B Gene using alignment to 2 proteins:
Variants for PHOX2B Gene
SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs104893855 | risk-factor, uncertain-significance, Neuroblastoma 2, Congenital central hypoventilation | 41,747,479(-) | C/A | coding_sequence_variant, missense_variant | |
rs104893856 | risk-factor, Neuroblastoma 2 | 41,746,162(-) | C/T | coding_sequence_variant, missense_variant | |
rs1060501118 | uncertain-significance, Congenital central hypoventilation | 41,746,082(-) | G/T | coding_sequence_variant, missense_variant | |
rs1060501119 | uncertain-significance, Congenital central hypoventilation | 41,746,228(-) | T/A | coding_sequence_variant, missense_variant | |
rs1060501120 | uncertain-significance, Congenital central hypoventilation | 41,746,119(-) | A/C | coding_sequence_variant, missense_variant |
Additional Variant Information for PHOX2B Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHOX2B Gene
Disorders for PHOX2B Gene

(15) MalaCards diseases for PHOX2B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
central hypoventilation syndrome, congenital |
|
|
neuroblastoma 2 |
|
|
hirschsprung disease ganglioneuroblastoma |
|
|
neuroblastoma |
|
|
autonomic nervous system disease |
|
|
UniProtKB/Swiss-Prot
PHX2B_HUMAN- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. {ECO:0000269 PubMed:12640453, ECO:0000269 PubMed:14566559, ECO:0000269 PubMed:15657873}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Neuroblastoma 2 (NBLST2) [MIM:613013]: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. {ECO:0000305 PubMed:15024693}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Additional Disease Information for PHOX2B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PHOX2B Gene
Publications for PHOX2B Gene
- PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. (PMID: 15657873) Trochet D … Amiel J (American journal of human genetics 2005) 3 4 22 44 58
- Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (PMID: 15024693) Trochet D … Amiel J (American journal of human genetics 2004) 3 4 22 44 58
- Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China. (PMID: 19735829) Liu CP … Li JC (Journal of pediatric surgery 2009) 3 22 44 58
- Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE. (PMID: 17300129) Hung CC … Hsu SM (Electrophoresis 2007) 3 22 44 58
- PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. (PMID: 16691592) McConville C … Rahman N (American journal of medical genetics. Part A 2006) 3 4 44 58
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Sources for PHOX2B 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
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- (114) diseasecard
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- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
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- (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