Aliases for KCNMB4 Gene
Aliases for KCNMB4 Gene
- Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 4 2 3 5
- Potassium Large Conductance Calcium-Activated Channel, Subfamily M, Beta Member 4 2 3
- Calcium-Activated Potassium Channel, Subfamily M Subunit Beta-4 3 4
- Potassium Channel Subfamily M Regulatory Beta Subunit 4 2 3
- Charybdotoxin Receptor Subunit Beta-4 3 4
- Big Potassium Channel Beta Subunit 4 2 3
- Maxi K Channel Subunit Beta-4 3 4
- MaxiK Channel Beta-Subunit 4 2 3
- BK Channel Beta Subunit 4 2 3
External Ids for KCNMB4 Gene
- HGNC: 6289
- Entrez Gene: 27345
- Ensembl: ENSG00000135643
- OMIM: 605223
- UniProtKB: Q86W47
Previous GeneCards Identifiers for KCNMB4 Gene
- GC12P070632
- GC12P070476
- GC12P069046
- GC12P070760
- GC12P067810
Summaries for KCNMB4 Gene
-
MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNMB4 Gene
KCNMB4 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 4) is a Protein Coding gene. Among its related pathways are Vascular smooth muscle contraction and Insulin secretion. GO annotations related to this gene include potassium channel regulator activity and calcium-activated potassium channel activity. An important paralog of this gene is KCNMB2.
UniProtKB/Swiss-Prot for KCNMB4 Gene
-
Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations.
-
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNMB4 Gene
Genomics for KCNMB4 Gene
Regulatory Elements for KCNMB4 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 |
|---|---|---|---|---|---|---|---|---|
| GH12G070241 | 1.4 | ENCODE dbSUPER | 12.4 | -122.7 | -122690 | 3.9 | CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 | CNOT2 FRS2 ENSG00000257815 KCNMB4 LOC105369826 LINC01481 ENSG00000279530 |
| GH12G070048 | 1.1 | Ensembl ENCODE | 10.5 | -316.2 | -316229 | 2.8 | ATF1 BMI1 FOS RELB ETV6 IKZF2 GATAD2B TBX21 ZNF592 NR2F2 | KCNMB4 ENSG00000257815 LOC105369826 RAB3IP LINC01481 LOC100125409 ENSG00000257241 |
| GH12G070557 | 0.6 | FANTOM5 dbSUPER | 14.5 | +191.7 | 191724 | 0.4 | KCNMB4 PTPRB ENSG00000277247 LOC105369828 | |
| GH12G070365 | 1 | ENCODE | 8.5 | +0.3 | 338 | 2.6 | PKNOX1 ZNF133 SIN3A GLI4 ZNF2 ZNF48 GLIS2 ZNF143 KLF7 ZNF263 | KCNMB4 GC12P070431 |
| GH12G070052 | 1.3 | Ensembl ENCODE | 5.6 | -313.1 | -313116 | 1.2 | ARNT YY1 ZNF766 FOS JUNB ZNF592 MIER3 SMARCA4 NBN HMBOX1 | FRS2 KCNMB4 CNOT2 LOC100125409 ENSG00000257241 |
Regulatory Element Products
Genomic Location for KCNMB4 Gene
- Chromosome:
- 12
- Start:
- 70,366,223 bp from pter
- End:
- 70,434,292 bp from pter
- Size:
- 68,070 bases
- Orientation:
- Plus strand
Genomic View for KCNMB4 Gene
- Cytogenetic band:
-
- 12q15 by Ensembl
- 12q15 by Entrez Gene
- 12q15 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KCNMB4 Gene
Proteins for KCNMB4 Gene
-
Protein details for KCNMB4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q86W47-KCMB4_HUMAN
- Recommended name:
- Calcium-activated potassium channel subunit beta-4
- Protein Accession:
- Q86W47
- Q8IVR3
- Q9NPA4
- Q9P0G5
Protein attributes for KCNMB4 Gene
- Size:
- 210 amino acids
- Molecular mass:
- 23949 Da
- Quaternary structure:
-
- Interacts with KCNMA1 tetramer (PubMed:10692449, PubMed:10804197). There are probably 4 molecules of KCMNB4 per KCNMA1 tetramer (PubMed:10692449, PubMed:10804197). Interacts with FMR1 (via N-terminus) (PubMed:25561520).
- Miscellaneous:
-
- Treatment with okadaic acid reduces its effect on KCNMA1.
Protein Expression for KCNMB4 Gene
Post-translational modifications for KCNMB4 Gene
- N-glycosylated. A highly glycosylated form is promoted by KCNMA1. Glycosylation, which is not required for the interaction with KCNMA1 and subcellular location, increases protection against charybdotoxin.
- Phosphorylated. Phosphorylation modulates its effect on KCNMA1 activation kinetics.
- Glycosylation at isoforms=53 and isoforms=90
- Modification sites at PhosphoSitePlus
Other Protein References for KCNMB4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KCNMB4
- Invitrogen Antibodies for KCNMB4
- antibodies-online Antibodies for KCNMB4: See all 44
- GeneTex KCNMB4 antibody for KCNMB4
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCNMB4
Protein Products
-
OriGene Purified Proteins for KCNMB4
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- Search GeneTex for Proteins for KCNMB4
Assay Products
No data available for DME Specific Peptides for KCNMB4 Gene
Domains & Families for KCNMB4 Gene
Gene Families for KCNMB4 Gene
Protein Domains for KCNMB4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for KCNMB4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q86W47UniProtKB/Swiss-Prot:
KCMB4_HUMAN :- Resistance to charybdotoxin (CTX) toxin is mediated by the extracellular domain.
- Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB4 subfamily.
- Domain:
-
- Resistance to charybdotoxin (CTX) toxin is mediated by the extracellular domain.
- Family:
-
- Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB4 subfamily.
Function for KCNMB4 Gene
Molecular function for KCNMB4 Gene
- UniProtKB/Swiss-Prot Function:
- Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 10692449 |
| GO:0015269 | calcium-activated potassium channel activity | IEA,IDA | 10692449 |
| GO:0015459 | potassium channel regulator activity | IBA | -- |
Phenotypes for KCNMB4 Gene
- MGI mutant phenotypes for KCNMB4:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for KCNMB4:
Animal Model Products
-
Taconic Biosciences Mouse Models for KCNMB4
-
ViGene Biosciences lentiviral particle packaged cDNA for KCNMB4 gene
-
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CRISPR Products
-
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-
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miRNA for KCNMB4 Gene
- miRTarBase miRNAs that target KCNMB4
-
- hsa-mir-215-5p (MIRT024739)
- hsa-mir-192-5p (MIRT026374)
- hsa-mir-335-3p (MIRT640069)
- hsa-mir-1305 (MIRT640070)
- hsa-mir-6826-3p (MIRT640071)
- hsa-mir-190a-3p (MIRT640072)
- hsa-mir-6832-3p (MIRT640073)
- hsa-mir-6756-3p (MIRT640074)
- hsa-mir-3127-3p (MIRT640075)
- hsa-mir-3074-3p (MIRT640076)
- hsa-mir-5011-5p (MIRT640077)
- hsa-mir-421 (MIRT657001)
- hsa-mir-7159-5p (MIRT657002)
- hsa-mir-505-3p (MIRT657003)
- hsa-mir-4446-5p (MIRT657004)
- hsa-mir-3201 (MIRT657005)
- hsa-mir-4791 (MIRT657006)
- hsa-mir-190b (MIRT657007)
- hsa-mir-190a-5p (MIRT657008)
- hsa-mir-3679-5p (MIRT657009)
- hsa-mir-1185-5p (MIRT657010)
- hsa-mir-4307 (MIRT657011)
miRNA Products
- Search ViGene Biosciences for KCNMB4
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for KCNMB4
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-
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Cell Line Products
-
Horizon Cell Lines for KCNMB4
-
ViGene Biosciences adenoviral particle packaged cDNA for KCNMB4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for KCNMB4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNMB4 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNMB4 Gene
Localization for KCNMB4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KCNMB4 Gene
- Membrane; Multi-pass membrane protein.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IDA | 10692449 |
| GO:0008076 | voltage-gated potassium channel complex | IDA | 10692449 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for KCNMB4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vascular smooth muscle contraction | ||
| 2 | Insulin secretion | ||
| 3 | Nitric oxide stimulates guanylate cyclase |
.01
|
|
| 4 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 5 | Transmission across Chemical Synapses |
.62
|
|
Pathways by source for KCNMB4 Gene
7 Reactome pathways for KCNMB4 Gene
3 KEGG pathways for KCNMB4 Gene
Interacting Proteins for KCNMB4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001508 | action potential | IDA | 10692449 |
| GO:0005513 | detection of calcium ion | IDA | 10692449 |
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | IDA,IEA | 10692449 |
No data available for SIGNOR curated interactions for KCNMB4 Gene
Drugs & Compounds for KCNMB4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Miconazole | Approved, Investigational, Vet_approved | Pharma | Antagonist, Pore Blocker, Target, inhibitor | 3706 | ||
| Procaine | Approved, Investigational, Vet_approved | Pharma | Channel blocker, Target, binder | 49 | ||
| 4-Aminopyridine | Approved | Pharma | Pore Blocker | potassium channel-blocking agent, Non-selective KV channel blocker | 69 | |
| calcium | Nutra | 0 | ||||
| E-4031 dihydrochloride | Pharma | KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| HMR 1556 |
|
223749-46-0 |
|
|
(5) Tocris Compounds for KCNMB4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 4-Aminopyridine | Non-selective KV channel blocker | 504-24-5 |
| E-4031 dihydrochloride | KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) | 113559-13-0 |
| HMR 1556 | Potent and selective Iks channel blocker | 223749-46-0 |
| Linopirdine dihydrochloride | KV7 (KCNQ) channel blocker | 113168-57-3 |
| XE 991 dihydrochloride | Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents | 122955-13-9 |
Transcripts for KCNMB4 Gene
mRNA/cDNA for KCNMB4 Gene
- (2) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (121) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KCNMB4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KCNMB4
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNMB4
- GenScript: Design CRISPR guide RNA sequences for KCNMB4
miRNA Products
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Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for KCNMB4
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-
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Clone Products
-
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Flow Cytometry Products
Expression for KCNMB4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Endothelial Cells Blood Brain Barrier
- Medulla Oblongata
-
Ovary (Reproductive System)
- Cumulus Cells Antral Follicle
-
Eye (Sensory Organs)
- Cholinergic Amacrine Cells Inner Nuclear Layer
-
Neurons
- Cholinergic Amacrine Cells Inner Nuclear Layer
-
Endothelium (Cardiovascular System)
- Endothelial Cells Blood Brain Barrier
- Neural Tube (Nervous System)
- Epiblast (Early Embryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for KCNMB4 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNMB4 Gene
NURSA nuclear receptor signaling pathways regulating expression of KCNMB4 Gene:
KCNMB4SOURCE GeneReport for Unigene cluster for KCNMB4 Gene:
Hs.525529mRNA Expression by UniProt/SwissProt for KCNMB4 Gene:
Q86W47-KCMB4_HUMANEvidence on tissue expression from TISSUES for KCNMB4 Gene
- Nervous system(4.7)
- Eye(4)
Primer Products
-
OriGene qPCR primer pairs for KCNMB4
-
OriGene qPCR primer pairs and template standards for KCNMB4
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNMB4 Gene
Orthologs for KCNMB4 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KCNMB4 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KCNMB4 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | KCNMB4 35 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KCNMB4 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Kcnmb4 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Kcnmb4 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | KCNMB4 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KCNMB4 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | KCNMB4 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kcnmb4 34 |
|
||
| Str.16311 34 |
|
- Species where no ortholog for KCNMB4 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)
- zebrafish (Danio rerio)
Paralogs for KCNMB4 Gene
(2) SIMAP similar genes for KCNMB4 Gene using alignment to 2 proteins:
Variants for KCNMB4 Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000037660 | -- | 70,427,277(+) | GGAGT(A/G)CCTTC | intron-variant | |
| rs1000061193 | -- | 70,384,477(+) | CGATA(A/G)TGAAT | intron-variant | |
| rs1000102618 | -- | 70,386,570(+) | TTAAT(G/T)GTAGC | intron-variant | |
| rs1000124437 | -- | 70,372,402(+) | ACACA(C/T)TCTGA | intron-variant | |
| rs1000139521 | -- | 70,432,513(+) | TCAAG(C/T)GATCC | utr-variant-3-prime |
Relevant External Links for KCNMB4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KCNMB4
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNMB4 Gene
Disorders for KCNMB4 Gene
Relevant External Links for KCNMB4
No disorders were found for KCNMB4 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNMB4 Gene
Publications for KCNMB4 Gene
- hKCNMB3 and hKCNMB4, cloning and characterization of two members of the large-conductance calcium-activated potassium channel beta subunit family. (PMID: 10828459) Behrens R. … Pongs O. (FEBS Lett. 2000) 2 3 4 22 64
- Phosphorylation-dependent functional coupling of hSlo calcium- dependent potassium channel and its hbeta 4 subunit. (PMID: 11790768) Jin P. … Levitan I.B. (J. Biol. Chem. 2002) 3 4 22 64
- Cloning and functional characterization of novel large conductance calcium-activated potassium channel beta subunits, hKCNMB3 and hKCNMB4. (PMID: 10692449) Brenner R. … Aldrich R.W. (J. Biol. Chem. 2000) 2 3 4 64
- Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. (PMID: 17913586) Cavalleri G.L. … Goldstein D.B. (Lancet Neurol 2007) 3 46 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
Products for KCNMB4 Gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for KCNMB4 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
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