Aliases for HPS5 Gene
Aliases for HPS5 Gene
External Ids for HPS5 Gene
- HGNC: 17022
- Entrez Gene: 11234
- Ensembl: ENSG00000110756
- OMIM: 607521
- UniProtKB: Q9UPZ3
Previous GeneCards Identifiers for HPS5 Gene
- GC00U991233
- GC11M018339
- GC11M018264
- GC11M018256
- GC11M017982
Summaries for HPS5 Gene
-
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for HPS5 Gene
HPS5 (HPS5, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2) is a Protein Coding gene. Diseases associated with HPS5 include Hermansky-Pudlak Syndrome 5 and Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis. An important paralog of this gene is TECPR2.
UniProtKB/Swiss-Prot for HPS5 Gene
-
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPS5 Gene
Genomics for HPS5 Gene
Regulatory Elements for HPS5 Gene
Regulatory Element Products
Genomic Location for HPS5 Gene
- Chromosome:
- 11
- Start:
- 18,278,668 bp from pter
- End:
- 18,322,498 bp from pter
- Size:
- 43,831 bases
- Orientation:
- Minus strand
Genomic View for HPS5 Gene
- Cytogenetic band:
-
- 11p15.1 by Ensembl
- 11p15.1 by Entrez Gene
- 11p15.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HPS5 Gene
Proteins for HPS5 Gene
-
Protein details for HPS5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UPZ3-HPS5_HUMAN
- Recommended name:
- Hermansky-Pudlak syndrome 5 protein
- Protein Accession:
- Q9UPZ3
- A8K6J8
- A8K8S1
- D3DQX9
- D3DQY0
- O95942
- Q8N4U0
Protein attributes for HPS5 Gene
- Size:
- 1129 amino acids
- Molecular mass:
- 127449 Da
- Quaternary structure:
-
- Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS6 (PubMed:15030569, PubMed:25189619). Interacts with HPS3 (PubMed:15030569). May interact with all alpha-integrin chains that have an aromatic residue before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6 (PubMed:10094488).
- SequenceCaution:
-
- Sequence=BAA76861.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for HPS5 Gene
Post-translational modifications for HPS5 Gene
Other Protein References for HPS5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Abcam antibodies for HPS5
- Invitrogen Antibodies for HPS5
- antibodies-online Antibodies for HPS5: See all 26
- Search GeneTex for Antibodies for HPS5
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HPS5
- Origene Custom Protein Services for HPS5
- antibodies-online Proteins for HPS5: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HPS5
-
Abcam proteins for HPS5
Assay Products
- antibodies-online Kits for HPS5: See all 19
No data available for DME Specific Peptides for HPS5 Gene
Domains & Families for HPS5 Gene
Gene Families for HPS5 Gene
Protein Domains for HPS5 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HPS5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UPZ3- Family:
-
- Belongs to the HPS5 family.
Function for HPS5 Gene
Molecular function for HPS5 Gene
- UniProtKB/Swiss-Prot Function:
- May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25189619 |
Phenotypes for HPS5 Gene
- MGI mutant phenotypes for HPS5:
-
inferred from 10 alleles
- growth/size/body region phenotype
- immune system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- limbs/digits/tail phenotype
- pigmentation phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for HPS5:
-
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased viability in esophageal squamous lineage
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased IL-8 secretion
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased homologous recombination repair frequency
- Negative genetic interaction between BLM-/- and BLM+/+
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HPS5 gene
-
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- Search ViGene Biosciences for HPS5
CRISPR Products
-
OriGene CRISPR knockouts for HPS5
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPS5
- GenScript: Design CRISPR guide RNA sequences for HPS5
miRNA for HPS5 Gene
- miRTarBase miRNAs that target HPS5
miRNA Products
- Search ViGene Biosciences for HPS5
Inhibitory RNA Products
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-
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Clone Products
- Sino Biological Human cDNA Clone for HPS5
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
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Horizon Cell Lines for HPS5
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ViGene Biosciences adenoviral particle packaged cDNA for HPS5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HPS5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HPS5 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HPS5 Gene
Localization for HPS5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HPS5 Gene
- Cytoplasm, cytosol.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0031084 | BLOC-2 complex | IPI | 15030569 |
Pathways & Interactions for HPS5 Gene
Interacting Proteins for HPS5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006996 | organelle organization | IEA | -- |
| GO:0007596 | blood coagulation | IEA | -- |
| GO:0043473 | pigmentation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HPS5 Gene
Transcripts for HPS5 Gene
mRNA/cDNA for HPS5 Gene
- (16) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (144) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HPS5 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HPS5
-
Santa Cruz Biotechnology (SCBT) CRISPR for HPS5
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miRNA Products
- Search ViGene Biosciences for HPS5
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HPS5
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-
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Clone Products
- Sino Biological Human cDNA Clone for HPS5
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | · | 8d | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: |
| ExUns: | 8e | · | 8f | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20a | · | 20b | · | 20c | ^ | 21a | · | 21b | · | 21c | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: |
Expression for HPS5 Gene
mRNA differential expression in normal tissues according to GTEx for HPS5 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HPS5 Gene
NURSA nuclear receptor signaling pathways regulating expression of HPS5 Gene:
HPS5SOURCE GeneReport for Unigene cluster for HPS5 Gene:
Hs.437599mRNA Expression by UniProt/SwissProt for HPS5 Gene:
Q9UPZ3-HPS5_HUMANEvidence on tissue expression from TISSUES for HPS5 Gene
- Liver(4.3)
- Nervous system(4.3)
- Eye(4)
- Skin(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HPS5 Gene
- ectoderm
- mesoderm
- cardiovascular
- integumentary
- nervous
- brain
- cranial nerve
- eye
- face
- head
- nose
- blood
- blood vessel
- coagulation system
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for HPS5
-
OriGene qPCR primer pairs and template standards for HPS5
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for HPS5 Gene
Orthologs for HPS5 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HPS5 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HPS5 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HPS5 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hps5 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hps5 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HPS5 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HPS5 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HPS5 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HPS5 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hps5 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hps5 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | p 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | W09G3.6 35 |
|
OneToOne |
- Species where no ortholog for HPS5 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)
- 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)
Paralogs for HPS5 Gene
(1) SIMAP similar genes for HPS5 Gene using alignment to 4 proteins:
Variants for HPS5 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs281865102 | Pathogenic, Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074] | 18,292,011(+) | CCTGT(A/C)GCTTG | intron-variant, nc-transcript-variant, reference, missense | |
| rs61884288 | Pathogenic, Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074] | 18,281,986(+) | CGCAG(A/G)TTCTG | nc-transcript-variant, reference, missense | |
| rs281865101 | Pathogenic | 18,305,438(+) | GTTTG(-/G)GGGAA | nc-transcript-variant, reference, frameshift-variant | |
| rs281865103 | Pathogenic | 18,291,854(+) | TCATT(-/AACT)AATAG | intron-variant, nc-transcript-variant, reference, frameshift-variant | |
| rs281865104 | Pathogenic | 18,287,659(+) | GGATC(A/G)AAGAG | nc-transcript-variant, reference, stop-gained |
Relevant External Links for HPS5 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPS5 Gene
Disorders for HPS5 Gene
(5) MalaCards diseases for HPS5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hermansky-pudlak syndrome 5 |
|
|
| hermansky-pudlak syndrome without pulmonary fibrosis |
|
|
| hermansky-pudlak syndrome |
|
|
| hermansky-pudlak syndrome 6 |
|
|
| hermansky-pudlak syndrome 3 |
|
|
UniProtKB/Swiss-Prot
HPS5_HUMAN- Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269 PubMed:15296495}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for HPS5
No data available for Genatlas for HPS5 Gene
Publications for HPS5 Gene
- Improper trafficking of melanocyte-specific proteins in Hermansky- Pudlak syndrome type-5. (PMID: 17301833) Helip-Wooley A. … Gahl W.A. (J. Invest. Dermatol. 2007) 3 4 22 64
- Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. (PMID: 15030569) Di Pietro S.M. … Dell'Angelica E.C. (Traffic 2004) 3 4 22 64
- Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. (PMID: 15296495) Huizing M. … Gahl W.A. (Traffic 2004) 3 4 22 64
- Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains. (PMID: 10094488) Wixler V. … Aumailley M. (FEBS Lett. 1999) 2 3 4 64
- Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64
Products for HPS5 Gene
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- Novus Biologicals proteins and lysates for HPS5
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- antibodies-online Antibodies for HPS5: See all 26
- antibodies-online Kits for HPS5: See all 19
- antibodies-online Proteins for HPS5: See all 3
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- ViGene Biosciences adenoviral particle packaged cDNA for HPS5 gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
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- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HPS5 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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
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- (92) Vector BioLabs
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- (99) Illumina
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
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- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




