Aliases for SMARCAD1 Gene
Aliases for SMARCAD1 Gene
External Ids for SMARCAD1 Gene
- HGNC: 18398
- Entrez Gene: 56916
- Ensembl: ENSG00000163104
- OMIM: 612761
- UniProtKB: Q9H4L7
Previous GeneCards Identifiers for SMARCAD1 Gene
- GC04P095521
- GC04P095587
- GC04P095486
- GC04P095347
- GC04P095128
- GC04P090866
Summaries for SMARCAD1 Gene
-
This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for SMARCAD1 Gene
SMARCAD1 (SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1) is a Protein Coding gene. Diseases associated with SMARCAD1 include Adermatoglyphia and Epilepsy, Familial Temporal Lobe, 1. Among its related pathways are BRCA1 Pathway and Transcriptional Regulatory Network in Embryonic Stem Cell. GO annotations related to this gene include nucleic acid binding and helicase activity.
UniProtKB/Swiss-Prot for SMARCAD1 Gene
-
DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 Lys-9 trimethylation (H3K9me3) and restoration of silencing.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCAD1 Gene
Genomics for SMARCAD1 Gene
Regulatory Elements for SMARCAD1 Gene
Enhancers for SMARCAD1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around SMARCAD1 on UCSC Golden Path with GeneCards custom track
Promoters for SMARCAD1 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around SMARCAD1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SMARCAD1 gene promoter:
Regulatory Element Products
Genomic Location for SMARCAD1 Gene
- Chromosome:
- 4
- Start:
- 94,207,608 bp from pter
- End:
- 94,291,292 bp from pter
- Size:
- 83,685 bases
- Orientation:
- Plus strand
Genomic View for SMARCAD1 Gene
Genes around SMARCAD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q22.3 by Ensembl
- 4q22.3 by Entrez Gene
- 4q22.3 by HGNC
SMARCAD1 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 SMARCAD1 Gene
Proteins for SMARCAD1 Gene
-
Protein details for SMARCAD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H4L7-SMRCD_HUMAN
- Recommended name:
- SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1
- Protein Accession:
- Q9H4L7
- B7Z799
- Q05D56
- Q96SX1
- Q9H017
- Q9H860
- Q9NPU9
- Q9ULU7
Protein attributes for SMARCAD1 Gene
- Size:
- 1026 amino acids
- Molecular mass:
- 117402 Da
- Quaternary structure:
-
- Binds to DNA preferentially in the vicinity of transcriptional start sites. Interacts with MSH2 and TRIM28. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with PCNA.
- SequenceCaution:
-
- Sequence=AAH17953.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA86436.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB14759.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for SMARCAD1 Gene
Selected DME Specific Peptides for SMARCAD1 Gene
Post-translational modifications for SMARCAD1 Gene
Other Protein References for SMARCAD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Santa Cruz Biotechnology (SCBT) Antibodies for SMARCAD1
Protein Products
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- antibodies-online Proteins for SMARCAD1: See all 3
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Assay Products
Domains & Families for SMARCAD1 Gene
Protein Domains for SMARCAD1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMARCAD1 Gene
Graphical View of Domain Structure for InterPro Entry
Q9H4L7UniProtKB/Swiss-Prot:
SMRCD_HUMAN :- Contains 2 CUE domains.
- Belongs to the SNF2/RAD54 helicase family.
- Domain:
-
- Contains 2 CUE domains.
- Contains 1 helicase ATP-binding domain.
- Contains 1 helicase C-terminal domain.
- Family:
-
- Belongs to the SNF2/RAD54 helicase family.
No data available for Gene Families for SMARCAD1 Gene
Function for SMARCAD1 Gene
Molecular function for SMARCAD1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + H(2)O = ADP + phosphate.
- UniProtKB/Swiss-Prot Function:
- DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 Lys-9 trimethylation (H3K9me3) and restoration of silencing.
Enzyme Numbers (IUBMB) for SMARCAD1 Gene
- EC 3.6.1 63
- EC 3.6.4.12 4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IDA | 18675275 |
Phenotypes for SMARCAD1 Gene
- MGI mutant phenotypes for SMARCAD1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SMARCAD1:
Animal Models for SMARCAD1 Gene
- MGI Knock Outs for SMARCAD1:
-
- Smarcad1 tm1Gos
Animal Model Products
-
Taconic Biosciences Mouse Models for SMARCAD1
-
ViGene Biosciences lentiviral particle packaged cDNA for SMARCAD1 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for SMARCAD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMARCAD1
- GenScript: Design CRISPR guide RNA sequences for SMARCAD1
miRNA for SMARCAD1 Gene
- miRTarBase miRNAs that target SMARCAD1
-
- hsa-mir-196a-5p (MIRT026072)
- hsa-let-7d-5p (MIRT032177)
- hsa-mir-320a (MIRT044732)
- hsa-let-7a-5p (MIRT052382)
- hsa-let-7b-5p (MIRT094457)
- hsa-let-7c-5p (MIRT094458)
- hsa-let-7e-5p (MIRT094460)
- hsa-let-7f-5p (MIRT094461)
- hsa-mir-98-5p (MIRT094463)
- hsa-let-7g-5p (MIRT094464)
- hsa-let-7i-5p (MIRT094465)
- hsa-mir-3927-3p (MIRT094473)
- hsa-mir-4458 (MIRT094474)
- hsa-mir-4500 (MIRT094475)
- hsa-mir-6831-5p (MIRT094478)
- hsa-mir-190a-3p (MIRT213823)
- hsa-mir-4443 (MIRT213824)
- hsa-mir-4650-3p (MIRT213825)
- hsa-mir-5011-5p (MIRT213826)
- hsa-mir-5692a (MIRT213827)
- hsa-mir-6515-5p (MIRT213828)
- hsa-mir-1277-5p (MIRT311040)
- hsa-mir-524-5p (MIRT501056)
- hsa-mir-520d-5p (MIRT501057)
- hsa-mir-6851-5p (MIRT501058)
- hsa-mir-3689d (MIRT501059)
- hsa-mir-5002-5p (MIRT501060)
- hsa-mir-5680 (MIRT501061)
- hsa-mir-338-5p (MIRT501062)
- hsa-mir-1251-3p (MIRT529348)
- hsa-mir-892c-5p (MIRT529349)
- hsa-mir-5583-5p (MIRT529350)
- hsa-mir-3129-3p (MIRT529351)
- hsa-mir-548av-3p (MIRT529352)
- hsa-mir-548f-3p (MIRT529353)
- hsa-mir-548e-3p (MIRT529354)
- hsa-mir-548az-3p (MIRT529355)
- hsa-mir-548ar-3p (MIRT529356)
- hsa-mir-548a-3p (MIRT529357)
miRNA Products
- Search ViGene Biosciences for SMARCAD1
Clone Products
- OriGene clones in human for SMARCAD1
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Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for SMARCAD1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SMARCAD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMARCAD1 gene
Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for SMARCAD1 Gene
Localization for SMARCAD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMARCAD1 Gene
- Nucleus. Chromosome. Note=Colocalizes with PCNA at replication forks during S phase. Recruited to double-strand breaks (DSBs) sites of DNA damage.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016363 | nuclear matrix | NAS | 11031099 |
| GO:0043596 | nuclear replication fork | IDA | 21549307 |
Pathways & Interactions for SMARCAD1 Gene
More details on SuperPathways for SMARCAD1| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | AMPK Enzyme Complex Pathway | ||
| 2 | Signaling pathways regulating pluripotency of stem cells | ||
| 3 | Chromatin Regulation / Acetylation | ||
| 4 | BRCA1 Pathway | ||
| 5 | PEDF Induced Signaling |
Pathways by source for SMARCAD1 Gene
1 Cell Signaling Technology pathway for SMARCAD1 Gene
1 KEGG pathway for SMARCAD1 Gene
5 Qiagen pathways for SMARCAD1 Gene
Interacting Proteins for SMARCAD1 Gene
Selected Interacting proteins:
Q9H4L7-SMRCD_HUMAN
ENSP00000351947
for SMARCAD1 Gene via
MINT
STRING
I2D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006338 | chromatin remodeling | NAS | 21549307 |
| GO:0016568 | chromatin modification | NAS | 11031099 |
| GO:0043044 | ATP-dependent chromatin remodeling | IMP | 22960744 |
| GO:0045893 | positive regulation of transcription, DNA-templated | NAS | 11031099 |
No data available for SIGNOR curated interactions for SMARCAD1 Gene
Drugs & Compounds for SMARCAD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Adenosine triphosphate | Approved | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
||
| phosphoric acid |
|
7664-38-2 |
|
|||
| Water |
|
7732-18-5 |
|
Transcripts for SMARCAD1 Gene
mRNA/cDNA for SMARCAD1 Gene
- (4) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (148) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SMARCAD1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SMARCAD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMARCAD1
- GenScript: Design CRISPR guide RNA sequences for SMARCAD1
miRNA Products
- Search ViGene Biosciences for SMARCAD1
Clone Products
- OriGene clones in human for SMARCAD1
- OriGene ORF clones in human,mouse,rat for SMARCAD1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for SMARCAD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Head Mesenchyme (Muscoskeletal System)
This gene is overexpressed in Esophagus (18.1), Fetal Liver (11.1), and Lung (9.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMARCAD1 Gene
SOURCE GeneReport for Unigene cluster for SMARCAD1 Gene Hs.410406
mRNA Expression by UniProt/SwissProt for SMARCAD1 Gene
Q9H4L7-SMRCD_HUMAN
Tissue specificity:
Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts, keratinocytes and esophagus.
- Elite partner
Primer Products
-
OriGene qPCR primer pairs and template standards for SMARCAD1
-
OriGene qPCR primer pairs for SMARCAD1
No data available for mRNA differential expression in normal tissues for SMARCAD1 Gene
Orthologs for SMARCAD1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | SMARCAD1 35 |
|
||
| SMARCAD1 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | SMARCAD1 35 |
|
||
| SMARCAD1 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Smarcad1 35 |
|
||
| Smarcad1 16 |
|
||||
| Smarcad1 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | SMARCAD1 35 |
|
||
| SMARCAD1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Smarcad1 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SMARCAD1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SMARCAD1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SMARCAD1 35 |
|
||
| SMARCAD1 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | SMARCAD1 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | smarcad1 35 |
|
||
| Str.11960 35 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33554 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC563175 35 |
|
||
| wufi25c01 35 |
|
||||
| smarcad1 36 |
|
OneToMany | |||
| SMARCAD1 (2 of 2) 36 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5000 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009980 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Etl1 35 |
|
||
| Etl1 36 |
|
OneToOne | |||
| worm (Caenorhabditis elegans) |
Secernentea | M03C11.8 36 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FUN30 36 |
|
OneToOne | |
| FUN30 38 |
|
|
|||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.12375 35 |
|
- Species with no ortholog for SMARCAD1:
-
- 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)
- 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 SMARCAD1 Gene
(2) SIMAP similar genes for SMARCAD1 Gene using alignment to 3 proteins:
No data available for Paralogs for SMARCAD1 Gene
Variants for SMARCAD1 Gene
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs11723410 | - | 94,226,125(+) | AGATT(C/T)TAGTG | nc-transcript-variant, reference, missense | |
| rs2664891 | - | 94,233,988(-) | AGGAA(A/G)GCCTT | nc-transcript-variant, reference, missense | |
| rs2632398 | - | 94,234,003(+) | TCTAC(A/C/G/T)TGCCA | nc-transcript-variant, reference, missense | |
| rs3103117 | - | 94,249,682(+) | TGCTA(A/C/G/T)ATTCT | nc-transcript-variant, reference, missense | |
| rs11722476 | - | 94,249,688(+) | TAGCA(A/G)TAATT | nc-transcript-variant, reference, missense |
Residual Variation Intolerance Score:
7.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.45;
90.98% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SMARCAD1 Gene
- Human Gene Mutation Database (HGMD)
- SMARCAD1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCAD1 Gene
Disorders for SMARCAD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adermatoglyphia |
|
|
| epilepsy, familial temporal lobe, 1 |
|
|
Search SMARCAD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SMRCD_HUMAN- Adermatoglyphia (ADERM) [MIM:136000]: An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles. {ECO:0000269 PubMed:21820097}. Note=The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation causing aberrant splicing of isoform 3 is likely to exert a loss-of-function effect and is associated with ADERM.
Relevant External Links for SMARCAD1
No data available for Genatlas for SMARCAD1 Gene
Publications for SMARCAD1 Gene
- SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22- q23, a band rich in breakpoints and deletion mutants involved in several human diseases. (PMID: 11031099) Adra C.N. … Drews R. (Genomics 2000) 2 3 4 23 67
- Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
- Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
- Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
Products for SMARCAD1 Gene
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- Humanized Mice
- antibodies-online Antibodies for SMARCAD1: See all 20
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- antibodies-online Proteins for SMARCAD1: See all 3
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- Search GeneTex for Antibodies for SMARCAD1
- Search GeneTex for Proteins for SMARCAD1
- ViGene Biosciences adenoviral particle packaged cDNA for SMARCAD1 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for SMARCAD1 gene
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- Santa Cruz Biotechnology (SCBT) CRISPR for SMARCAD1
Sources for SMARCAD1 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) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
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