Aliases for HEATR5B Gene
External Ids for HEATR5B Gene
- HGNC: 29273
- Entrez Gene: 54497
- Ensembl: ENSG00000008869
- UniProtKB: Q9P2D3
Previous GeneCards Identifiers for HEATR5B Gene
- GC02M037061
- GC02M037195
Summaries for HEATR5B Gene
GeneCards Summary for HEATR5B Gene
HEATR5B (HEAT Repeat Containing 5B) is a Protein Coding gene. GO annotations related to this gene include binding. An important paralog of this gene is HEATR5A.
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEATR5B Gene
Genomics for HEATR5B Gene
Regulatory Elements for HEATR5B Gene
Enhancers for HEATR5B Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH02G036657 | 1 | ENCODE | 12.4 | +425.1 | 425078 | 3.2 | FOXA2 ATF1 MLX ZFP64 ARID4B SLC30A9 FOS ZNF202 MXD4 JUNB | ENSG00000272054 CEBPZ HEATR5B CRIM1 VIT LOC100422559 |
| GH02G037168 | 1 | Ensembl ENCODE | 12.2 | -84.0 | -84030 | 0.4 | CTCF ZFP64 CEBPG CHD7 ZNF2 RAD21 IRF9 GTF3C2 ZNF143 SMC3 | ENSG00000272054 NDUFAF7 HEATR5B CEBPZ CEBPZOS EIF2AK2 SULT6B1 RPL31P16 |
| GH02G036448 | 1.9 | FANTOM5 Ensembl ENCODE dbSUPER | 6.2 | +628.1 | 628058 | 15.1 | FOXA2 PKNOX1 ATF1 ZNF133 ZFP64 ARID4B SIN3A DMAP1 ETS1 TCF12 | CRIM1 LOC100288911 HEATR5B ENSG00000273090 GC02P036388 |
| GH02G037877 | 1 | Ensembl ENCODE | 11 | -793.3 | -793276 | 0.5 | CTCF JUN RAD21 ZBTB40 FOSL1 ZNF791 ZNF143 SMC3 FOS CREM | LINC00211 ENSG00000272054 HEATR5B RNU6-939P RMDN2 |
| GH02G037060 | 0.5 | dbSUPER | 17.4 | +23.8 | 23790 | 0.8 | CTCF ZNF654 FUS SMC3 RAD21 | HEATR5B GPATCH11 STRN GC02M036982 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HEATR5B on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for HEATR5B Gene
- Chromosome:
- 2
- Start:
- 36,968,383 bp from pter
- End:
- 37,084,375 bp from pter
- Size:
- 115,993 bases
- Orientation:
- Minus strand
Genomic View for HEATR5B Gene
Genes around HEATR5B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p22.2 by Ensembl
- 2p22.2 by Entrez Gene
- 2p22.2 by HGNC
HEATR5B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HEATR5B Gene
Proteins for HEATR5B Gene
-
Protein details for HEATR5B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9P2D3-HTR5B_HUMAN
- Recommended name:
- HEAT repeat-containing protein 5B
- Protein Accession:
- Q9P2D3
- B5MDU8
- Q7Z3B2
- Q9NVL7
Protein attributes for HEATR5B Gene
- Size:
- 2071 amino acids
- Molecular mass:
- 224302 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA91733.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for HEATR5B Gene
Post-translational modifications for HEATR5B Gene
Other Protein References for HEATR5B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HEATR5B
-
Abcam antibodies for HEATR5B
- Invitrogen Antibodies for HEATR5B
- Search GeneTex for Antibodies for HEATR5B
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HEATR5B
- Origene Custom Protein Services for HEATR5B
- Novus Biologicals proteins for HEATR5B
- Search GeneTex for Proteins for HEATR5B
Assay Products
No data available for DME Specific Peptides for HEATR5B Gene
Domains & Families for HEATR5B Gene
Protein Domains for HEATR5B Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HEATR5B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9P2D3- Family:
-
- Belongs to the HEATR5 family.
No data available for Gene Families for HEATR5B Gene
Function for HEATR5B Gene
Phenotypes for HEATR5B Gene
- GenomeRNAi human phenotypes for HEATR5B:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HEATR5B gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEATR5B gene
- Search ViGene Biosciences for HEATR5B
CRISPR Products
-
OriGene CRISPR knockouts for HEATR5B
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEATR5B
- GenScript: Design CRISPR guide RNA sequences for HEATR5B
miRNA for HEATR5B Gene
- miRTarBase miRNAs that target HEATR5B
miRNA Products
- Search ViGene Biosciences for HEATR5B
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HEATR5B
- Browse OriGene Inhibitory RNA Products For HEATR5B
-
ViGene Biosciences ready-to-package AAV shRNAs for HEATR5B gene
Cell Line Products
-
Horizon Cell Lines for HEATR5B
-
ViGene Biosciences adenoviral particle packaged cDNA for HEATR5B gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HEATR5B gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEATR5B gene
Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HEATR5B Gene
Localization for HEATR5B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016020 | membrane | IDA | 19946888 |
| GO:0070062 | extracellular exosome | IDA | 23376485 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for HEATR5B Gene
Pathways & Interactions for HEATR5B Gene
No Data Available
No data available for Pathways by source and SIGNOR curated interactions for HEATR5B Gene
Transcripts for HEATR5B Gene
mRNA/cDNA for HEATR5B Gene
- (8) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (134) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HEATR5B Gene
CRISPR Products
-
OriGene CRISPR knockouts for HEATR5B
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEATR5B
- GenScript: Design CRISPR guide RNA sequences for HEATR5B
miRNA Products
- Search ViGene Biosciences for HEATR5B
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HEATR5B
- Browse OriGene Inhibitory RNA Products For HEATR5B
-
ViGene Biosciences ready-to-package AAV shRNAs for HEATR5B gene
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33a | · | 33b | ^ | 34 | ^ | 35 | ^ | 36a | · | 36b | ^ | 37 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||
| SP8: |
Expression for HEATR5B Gene
This gene is overexpressed in Peripheral blood mononuclear cells (16.1), Adipocyte (8.9), and Lymph node (7.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HEATR5B Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HEATR5B Gene:
HEATR5BSOURCE GeneReport for Unigene cluster for HEATR5B Gene:
Hs.744084Evidence on tissue expression from TISSUES for HEATR5B Gene
- Nervous system(4.6)
Primer Products
-
OriGene qPCR primer pairs for HEATR5B
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEATR5B Gene
Orthologs for HEATR5B Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HEATR5B 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HEATR5B 35 |
|
OneToOne | |
| LOC540503 34 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | HEATR5B 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HEATR5B 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HEATR5B 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Heatr5b 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Heatr5b 34 |
|
||
| chicken (Gallus gallus) |
Aves | HEATR5B 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HEATR5B 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | heatr5b 34 |
|
||
| Str.14 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19754 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | HEATR5B (1 of 2) 35 |
|
OneToMany | |
| heatr5b 34 |
|
||||
| CABZ01061567.1 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG2747 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002215 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C13F10.4 34 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAA1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for HEATR5B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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 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 HEATR5B Gene
(1) SIMAP similar genes for HEATR5B Gene using alignment to 3 proteins:
Variants for HEATR5B Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000041110 | -- | 37,009,492(+) | GGATC(A/G)CTTAA | intron-variant | |
| rs1000046415 | -- | 36,984,584(+) | TTTGT(A/G)TAAGA | intron-variant | |
| rs1000061893 | -- | 37,037,330(+) | AGTAT(A/G)GATGG | intron-variant | |
| rs1000151344 | -- | 37,083,994(+) | TCCGG(A/C)ATGCA | intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime | |
| rs1000175946 | -- | 36,999,728(+) | AACCT(C/T)CCGGC | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2719926 | CNV | deletion | 23290073 |
| esv2719927 | CNV | deletion | 23290073 |
| esv2719928 | CNV | deletion | 23290073 |
| esv2719930 | CNV | deletion | 23290073 |
| nsv1121565 | CNV | deletion | 24896259 |
| nsv1138767 | CNV | deletion | 24896259 |
| nsv428395 | CNV | gain | 18775914 |
| nsv456363 | CNV | gain | 19166990 |
| nsv581470 | CNV | gain | 21841781 |
| nsv581471 | CNV | loss | 21841781 |
| nsv581472 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
0.783% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.48;
77.53% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HEATR5B Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HEATR5B
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEATR5B Gene
Disorders for HEATR5B Gene
Relevant External Links for HEATR5B
No disorders were found for HEATR5B Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HEATR5B Gene
Publications for HEATR5B Gene
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
- Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke M.M. … Psaty B.M. (Stroke 2009) 3 46 64
- Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. (PMID: 17975119) Shiffman D. … Psaty B.M. (Arterioscler. Thromb. Vasc. Biol. 2008) 3 46 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
Products for HEATR5B Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
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- OriGene qPCR primer pairs for HEATR5B
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- GenScript: Design CRISPR guide RNA sequences for HEATR5B
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- Novus Biologicals Antibodies for HEATR5B
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- ViGene Biosciences adenoviral particle packaged cDNA for HEATR5B gene
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- Horizon Cell Lines for HEATR5B
- Cyagen custom Knockout/knockin (KOKI) mouse models for HEATR5B
- VectorBuilder custom plasmid, inducible vectors for HEATR5B
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- 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 HEATR5B 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
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
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- (122) diseasecard
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (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




