Aliases for HEPACAM Gene
Aliases for HEPACAM Gene
External Ids for HEPACAM Gene
- HGNC: 26361
- Entrez Gene: 220296
- Ensembl: ENSG00000165478
- OMIM: 611642
- UniProtKB: Q14CZ8
Previous GeneCards Identifiers for HEPACAM Gene
- GC11M124295
- GC11M124789
- GC11M120731
Summaries for HEPACAM Gene
-
The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
GeneCards Summary for HEPACAM Gene
HEPACAM (Hepatic And Glial Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with HEPACAM include Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation and Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A. An important paralog of this gene is HEPACAM2.
UniProtKB/Swiss-Prot for HEPACAM Gene
-
Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEPACAM Gene
Genomics for HEPACAM Gene
Regulatory Elements for HEPACAM Gene
- Transcription factor binding sites by QIAGEN in the HEPACAM gene promoter:
Regulatory Element Products
Genomic Location for HEPACAM Gene
- Chromosome:
- 11
- Start:
- 124,919,193 bp from pter
- End:
- 124,936,412 bp from pter
- Size:
- 17,220 bases
- Orientation:
- Minus strand
Genomic View for HEPACAM Gene
- Cytogenetic band:
-
- 11q24.2 by Ensembl
- 11q24.2 by Entrez Gene
- 11q24.2 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HEPACAM Gene
Proteins for HEPACAM Gene
-
Protein details for HEPACAM Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q14CZ8-HECAM_HUMAN
- Recommended name:
- Hepatocyte cell adhesion molecule
- Protein Accession:
- Q14CZ8
- Q67IP8
- Q6ZWL4
- Q8N7I3
- Q8ND35
Protein attributes for HEPACAM Gene
- Size:
- 416 amino acids
- Molecular mass:
- 46026 Da
- Quaternary structure:
-
- Homodimer. Dimer formation occurs predominantly through cis interactions on the cell surface. Part of a complex containing MLC1, TRPV4, AQP4 and ATP1B1.
Protein Expression for HEPACAM Gene
Post-translational modifications for HEPACAM Gene
- N-glycosylated.
- Glycosylation at isoforms=235, isoforms=2138, isoforms=2167, and isoforms=2189
- Modification sites at PhosphoSitePlus
Other Protein References for HEPACAM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HEPACAM
- R&D Systems Antibodies for HEPACAM (HepaCAM)
-
Custom Antibody ServicesOriGene Antibodies for HEPACAM
- Novus Biologicals Antibodies for HEPACAM
-
Abcam antibodies for HEPACAM
- Invitrogen Antibodies for HEPACAM
- antibodies-online Antibodies for HEPACAM: See all 41
- GeneTex Avpr1b antibody for HEPACAM
- GeneTex HEPACAM antibody for HEPACAM
-
Santa Cruz Biotechnology (SCBT) Antibodies for HEPACAM
Protein Products
-
OriGene Purified Proteins for HEPACAM
- Search Origene for MassSpec and Protein Over-expression Lysates for HEPACAM
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- Sino Biological Recombinant Proteins for HEPACAM
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- antibodies-online Proteins for HEPACAM: See all 9
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- Search GeneTex for Proteins for HEPACAM
-
ProSci Proteins for HEPACAM
-
Abcam proteins for HEPACAM
Assay Products
- antibodies-online Kits for HEPACAM: See all 3
No data available for DME Specific Peptides for HEPACAM Gene
Domains & Families for HEPACAM Gene
Gene Families for HEPACAM Gene
Protein Domains for HEPACAM Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HEPACAM Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q14CZ8UniProtKB/Swiss-Prot:
HECAM_HUMAN :- The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.
- Domain:
-
- The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.
Function for HEPACAM Gene
Molecular function for HEPACAM Gene
- UniProtKB/Swiss-Prot Function:
- Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.
- UniProtKB/Swiss-Prot Induction:
- Down-regulated in 20 out of 23 of hepatocellular carcinoma (HCC) samples and is undetectable in 5 HCC cell lines tested.
Phenotypes for HEPACAM Gene
- MGI mutant phenotypes for HEPACAM:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for HEPACAM:
Animal Model Products
-
Taconic Biosciences Mouse Models for HEPACAM
-
ViGene Biosciences lentiviral particle packaged cDNA for HEPACAM gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEPACAM gene
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CRISPR Products
-
OriGene CRISPR knockouts for HEPACAM
-
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miRNA for HEPACAM Gene
- miRTarBase miRNAs that target HEPACAM
miRNA Products
- Search ViGene Biosciences for HEPACAM
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HEPACAM
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for HEPACAM
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for HEPACAM Gene
Localization for HEPACAM Gene
Subcellular locations from UniProtKB/Swiss-Prot for HEPACAM Gene
- Cytoplasm. Membrane; Single-pass type I membrane protein; Cytoplasmic side. Note=In MCF-7 breast carcinoma and hepatic Hep 3B2.1-7 and Hep-G2 cell lines, localization of HEPACAM is cell density-dependent. In well spread cells, localized to punctate structures in the perinuclear membrane, cytoplasm, and at cell surface of protusions. In confluent cells, localized predominantly to the cytoplasmic membrane, particularly in areas of cell-cell contacts. Colocalizes with CDH1.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005911 | cell-cell junction | IDA | 21419380 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030424 | axon | IDA | 21419380 |
Pathways & Interactions for HEPACAM Gene
Interacting Proteins for HEPACAM Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007050 | cell cycle arrest | IEA | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0034613 | cellular protein localization | IEA | -- |
| GO:0040008 | regulation of growth | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HEPACAM Gene
Transcripts for HEPACAM Gene
mRNA/cDNA for HEPACAM Gene
- (3) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (50) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HEPACAM Gene
CRISPR Products
-
OriGene CRISPR knockouts for HEPACAM
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEPACAM
- GenScript: Design CRISPR guide RNA sequences for HEPACAM
miRNA Products
- Search ViGene Biosciences for HEPACAM
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HEPACAM
- Browse OriGene Inhibitory RNA Products For HEPACAM
-
ViGene Biosciences ready-to-package AAV shRNAs for HEPACAM gene
Clone Products
-
OriGene ORF clones in human for HEPACAM
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HEPACAM
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- R&D Systems cDNA Clones for HEPACAM (HepaCAM)
Flow Cytometry Products
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||
| SP5: |
Expression for HEPACAM Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Protoplasmic Astrocyte Cells Neocortex
- Hypothalamus
- Thalamus
- Striatum
- Neural Tube (Nervous System)
- Heart (Cardiovascular System)
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Protoplasmic Astrocyte Cells Neocortex
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- NULL (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for HEPACAM Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HEPACAM Gene
NURSA nuclear receptor signaling pathways regulating expression of HEPACAM Gene:
HEPACAMSOURCE GeneReport for Unigene cluster for HEPACAM Gene:
Hs.745294Evidence on tissue expression from TISSUES for HEPACAM Gene
- Nervous system(4.7)
- Liver(4.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HEPACAM Gene
- ectoderm
- mesoderm
- nervous
- skeletal muscle
- skeleton
- brain
- cerebellum
- head
- skull
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for HEPACAM
No data available for mRNA Expression by UniProt/SwissProt for HEPACAM Gene
Orthologs for HEPACAM Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HEPACAM 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HEPACAM 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HEPACAM 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hepacam 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | RGD1306811 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HEPACAM 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HEPACAM 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HEPACAM 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HEPACAM 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hepacam 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100333891 34 |
|
||
| HEPACAM (2 of 2) 35 |
|
OneToMany | |||
| hepacam 35 |
|
OneToMany |
- Species where no ortholog for HEPACAM 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 HEPACAM Gene
Variants for HEPACAM Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs149782549 | Uncertain significance, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926] | 124,922,760(+) | CAGGC(A/G)GTCAT | intron-variant, reference, missense | |
| rs387907049 | Pathogenic, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925] | 124,923,851(-) | CCTGT(A/C/T)CCCCG | intron-variant, reference, missense | |
| rs387907050 | Pathogenic, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925] | 124,924,880(-) | CCTGC(A/G)GCCTG | intron-variant, reference, missense | |
| rs387907051 | Pathogenic, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925] | 124,923,807(-) | TGGAG(A/G)ATGAC | intron-variant, reference, missense | |
| rs387907052 | Pathogenic, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925] | 124,924,863(-) | GAGAC(C/T)GTATC | intron-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2745189 | CNV | deletion | 23290073 |
Relevant External Links for HEPACAM Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPACAM Gene
Disorders for HEPACAM Gene
(6) MalaCards diseases for HEPACAM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation |
|
|
| megalencephalic leukoencephalopathy with subcortical cysts 2a |
|
|
| megalencephalic leukoencephalopathy with subcortical cysts |
|
|
| macrocephaly/autism syndrome |
|
|
| hepacam-related megalencephalic leukoencephalopathy with subcortical cysts |
|
|
UniProtKB/Swiss-Prot
HECAM_HUMAN- Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]: A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease. {ECO:0000269 PubMed:21419380}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]: A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency. {ECO:0000269 PubMed:21419380}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for HEPACAM
No data available for Genatlas for HEPACAM Gene
Publications for HEPACAM Gene
- Cloning and characterization of hepaCAM, a novel Ig-like cell adhesion molecule suppressed in human hepatocellular carcinoma. (PMID: 15885354) Moh M.C. … Shen S. (J. Hepatol. 2005) 2 3 4 22 64
- Structural and functional analyses of a novel Ig-like cell adhesion molecule, hepaCAM, in the human breast carcinoma MCF7 cells. (PMID: 15917256) Moh M.C. … Shen S. (J. Biol. Chem. 2005) 2 3 4 64
- Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (PMID: 21419380) Lopez-Hernandez T. … van der Knaap M.S. (Am. J. Hum. Genet. 2011) 3 4 64
- Overexpression of HepaCAM inhibits bladder cancer cell proliferation and viability through the AKT/FoxO pathway. (PMID: 28229220) Tang M. … Luo C. (J. Cancer Res. Clin. Oncol. 2017) 3 64
- The SMAD2/3 pathway is involved in hepaCAM-induced apoptosis by inhibiting the nuclear translocation of SMAD2/3 in bladder cancer cells. (PMID: 26873485) Wang X. … Luo C. (Tumour Biol. 2016) 3 64
Products for HEPACAM Gene
- R&D Systems Antibodies for HEPACAM (HepaCAM)
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- R&D Systems cDNA Clones for HEPACAM (HepaCAM)
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- Novus Biologicals Antibodies for HEPACAM
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- Search for Assays for HEPACAM at Abcam
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- Taconic Biosciences Mouse Models for HEPACAM
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- Humanized Mice
- antibodies-online Antibodies for HEPACAM: See all 41
- antibodies-online Kits for HEPACAM: See all 3
- antibodies-online Proteins for HEPACAM: See all 9
- Search antibodies-online for peptides
- GeneTex Avpr1b antibody for HEPACAM
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- Search GeneTex for Proteins for HEPACAM
- ViGene Biosciences adenoviral particle packaged cDNA for HEPACAM gene
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- Search ViGene Biosciences for HEPACAM
- Santa Cruz Biotechnology (SCBT) Antibodies for HEPACAM
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- VectorBuilder custom plasmid, inducible vectors for HEPACAM
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- 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 HEPACAM 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
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