This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012] See more...
Aliases for FOXL1 Gene
Aliases for FOXL1 Gene
External Ids for FOXL1 Gene
- HGNC: 3817
- Entrez Gene: 2300
- Ensembl: ENSG00000176678
- OMIM: 603252
- UniProtKB: Q12952
Previous HGNC Symbols for FOXL1 Gene
- FKHL11
Previous GeneCards Identifiers for FOXL1 Gene
- GC16U990020
- GC16P087645
- GC16P086353
- GC16P086393
- GC16P085169
- GC16P086612
- GC16P072351
Summaries for FOXL1 Gene
-
This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012]
GeneCards Summary for FOXL1 Gene
FOXL1 (Forkhead Box L1) is a Protein Coding gene. Diseases associated with FOXL1 include Lymphedema-Distichiasis Syndrome and Hypoplastic Left Heart Syndrome. Among its related pathways are Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription factor activity, RNA polymerase II-specific. An important paralog of this gene is FOXC1.
UniProtKB/Swiss-Prot Summary for FOXL1 Gene
-
Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors (By similarity).
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXL1 Gene
Genomics for FOXL1 Gene
GeneHancer (GH) Regulatory Elements for FOXL1 Gene
Promoters and enhancers for FOXL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FOXL1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FOXL1 gene promoter:
-
- C/EBPalpha
- MyoD
- Pax-4a
- PPAR-gamma2
- ZID
Genomic Locations for FOXL1 Gene
Genomic Locations for FOXL1 Gene
- chr16:86,576,368-86,582,160
- (GRCh38/hg38)
- Size:
- 5,793 bases
- Orientation:
- Plus strand
- chr16:86,609,974-86,615,304
- (GRCh37/hg19)
- Size:
- 5,331 bases
- Orientation:
- Plus strand
Genomic View for FOXL1 Gene
Genes around FOXL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q24.1 by HGNC
- 16q24.1 by Entrez Gene
- 16q24.1 by Ensembl
FOXL1 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 FOXL1 Gene
Proteins for FOXL1 Gene
-
Protein details for FOXL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12952-FOXL1_HUMAN
- Recommended name:
- Forkhead box protein L1
- Protein Accession:
- Q12952
- Q17RR1
- Q9H242
Protein attributes for FOXL1 Gene
- Size:
- 345 amino acids
- Molecular mass:
- 36490 Da
- Quaternary structure:
- No Data Available
Protein Expression for FOXL1 Gene
Post-translational modifications for FOXL1 Gene
Other Protein References for FOXL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FOXL1
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-
Abcam antibodies for FOXL1
- Invitrogen Antibodies for FOXL1 (AFLGC-FOXL1)
-
Boster Bio Antibodies for FOXL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for FOXL1
Protein Products
-
OriGene Purified Proteins for FOXL1
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- antibodies-online: Show 4 available FOXL1 Proteins ranked by validation data
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Abcam proteins for FOXL1
Assay Products
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Quality Products:
-
Boster Bio ELISA Kits for FOXL1
No data available for DME Specific Peptides for FOXL1 Gene
Domains & Families for FOXL1 Gene
Gene Families for FOXL1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for FOXL1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FOXL1 Gene
- GenScript: Design optimal peptide antigens:
-
- Forkhead-related transcription factor 7 (FOXL1_HUMAN)
- Forkhead box L1 (Q498Y4_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FOXL1 Gene
Function for FOXL1 Gene
Molecular function for FOXL1 Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors (By similarity).
Phenotypes From GWAS Catalog for FOXL1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0003677 | DNA binding | IDA | 7957066 |
| GO:0003700 | DNA-binding transcription factor activity | ISS | -- |
| GO:0008301 | DNA binding, bending | NAS | 7957066 |
| GO:0043565 | sequence-specific DNA binding | IDA | 7957066 |
Phenotypes for FOXL1 Gene
- MGI mutant phenotypes for FOXL1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for FOXL1:
-
- Decreased viability ratio
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased viability in esophageal squamous lineage
- Decreased circadian period length
- Decreased viability
- no effect
- Increased caspase activity
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FOXL1 - Select products 50% OFF >
- * FOXL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * FOXL1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXL1
- genomics-online: gRNA clones - Search for available FOXL1 gRNA products
- Overview of 71 available FOXL1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXL1
miRNA for FOXL1 Gene
- miRTarBase miRNAs that target FOXL1
-
- hsa-mir-6516-3p (MIRT509696)
- hsa-mir-3924 (MIRT509697)
- hsa-mir-190a-3p (MIRT509698)
- hsa-mir-5011-5p (MIRT509699)
- hsa-mir-5580-3p (MIRT509700)
- hsa-mir-4262 (MIRT548173)
- hsa-mir-181d-5p (MIRT548174)
- hsa-mir-181c-5p (MIRT548175)
- hsa-mir-181b-5p (MIRT548176)
- hsa-mir-181a-5p (MIRT548177)
- hsa-mir-493-5p (MIRT557823)
- hsa-mir-3177-5p (MIRT557824)
- hsa-mir-410-3p (MIRT557825)
- hsa-mir-466 (MIRT633736)
- hsa-mir-3941 (MIRT633737)
- hsa-mir-5195-5p (MIRT633738)
- hsa-mir-4643 (MIRT633739)
- hsa-mir-4789-3p (MIRT633740)
- hsa-mir-603 (MIRT633741)
- hsa-mir-362-3p (MIRT633742)
- hsa-mir-329-3p (MIRT633743)
- hsa-mir-8485 (MIRT633744)
- hsa-mir-6873-3p (MIRT647654)
- hsa-mir-642a-5p (MIRT647655)
- hsa-mir-20a-3p (MIRT647656)
- hsa-mir-6728-3p (MIRT647657)
- hsa-mir-6817-3p (MIRT647658)
- hsa-mir-7110-3p (MIRT647659)
- hsa-mir-6769b-3p (MIRT647660)
- hsa-mir-4723-3p (MIRT647661)
- hsa-mir-3183 (MIRT647662)
- hsa-mir-2276-5p (MIRT647663)
- hsa-mir-6892-3p (MIRT647664)
- hsa-mir-6729-3p (MIRT647665)
- hsa-mir-4686 (MIRT647666)
Transcription Factor Targets for FOXL1 Gene
miRNA Products
Inhibitory RNA Products
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- Overview of 71 available FOXL1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for FOXL1 - Select products 50% OFF >
- * FOXL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * FOXL1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for FOXL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXL1
- genomics-online: cdna clones - Search for available FOXL1 CDNA products
- Overview of 71 available FOXL1 gene related products
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- Overview of 71 available FOXL1 gene related products
Cell Line Products
-
Horizon Cell Lines for FOXL1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for FOXL1 Gene
Localization for FOXL1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FOXL1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IC,IBA | 7957066 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for FOXL1 Gene
Pathways & Interactions for FOXL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ectoderm Differentiation | ||
Pathways by source for FOXL1 Gene
1 BioSystems pathway for FOXL1 Gene
Interacting Proteins for FOXL1 Gene
GPS-Prot Interaction Network for FOXL1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0007275 | multicellular organism development | NAS | 11078474 |
| GO:0007495 | visceral mesoderm-endoderm interaction involved in midgut development | ISS,IEA | -- |
| GO:0007507 | heart development | IMP | 21457232 |
No data available for SIGNOR curated interactions for FOXL1 Gene
Transcripts for FOXL1 Gene
mRNA/cDNA for FOXL1 Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (3) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000320241 3655 bps (ENST00000320241.4)
- ENST00000593625 592 bps (ENST00000593625.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FOXL1 - Select products 50% OFF >
- * FOXL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * FOXL1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for FOXL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXL1
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- Overview of 71 available FOXL1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXL1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for FOXL1
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXL1
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- Overview of 71 available FOXL1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for FOXL1 - Select products 50% OFF >
- * FOXL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXL1
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- Overview of 71 available FOXL1 gene related products
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- Overview of 71 available FOXL1 gene related products
Expression for FOXL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for FOXL1 Gene
This gene is overexpressed in Artery - Aorta (x8.3), Artery - Tibial (x8.1), and Artery - Coronary (x7.4).
This gene is overexpressed in Platelet (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FOXL1 Gene
NURSA nuclear receptor signaling pathways regulating expression of FOXL1 Gene:
FOXL1SOURCE GeneReport for Unigene cluster for FOXL1 Gene:
Hs.533830Primer Products
-
OriGene qPCR primer pairs for FOXL1
- genomics-online: primer clones - Search for available FOXL1 Primer products
- Overview of 71 available FOXL1 gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXL1 Gene
Orthologs for FOXL1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FOXL1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FOXL1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FOXL1 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Foxl1 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC687553 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FOXL1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FOXL1 32 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FOXL1 33 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | foxl1 33 |
|
OneToOne | |
| zgc63595 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | croc 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
ManyToMany |
- Species where no ortholog for FOXL1 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)
- platypus (Ornithorhynchus anatinus)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for FOXL1 Gene
- ENSEMBL:
- Gene Tree for FOXL1 (if available)
- TreeFam:
- Gene Tree for FOXL1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FOXL1: view image
Paralogs for FOXL1 Gene
Paralogs for FOXL1 Gene
- FOXC1 5
- FOXC2 5
- FOXD2 5
- FOXD3 5
- FOXL2 5
- FOXS1 5
- FOXI3 5
- FOXD4L1 5
- FOXD4 5
- WI2-2373I1.2 5
- FOXA2 5
- FOXD4L4 5
- FOXD1 5
- FOXE1 5
- FOXD4L6 5
- FOXD4L3 5
- FOXA1 5
- FOXE3 5
- FOXD4L5 5
- FOXI2 5
- FOXF1 5
- FOXQ1 5
- FOXB1 5
- FOXB2 5
- FOXA3 5
- FOXK1 5
- FOXK2 5
- FOXJ2 5
- FOXM1 5
- FOXN1 5
- FOXJ1 5
- FOXJ3 5
- FOXH1 5
- FOXO1 5
- FOXO3 5
- FOXO4 5
- FOXO6 5
- ENSG00000285708 5
- FOXP1 5
- FOXP3 5
- FOXR1 5
- FOXR2 5
- FOXO3B 5
(19) SIMAP similar genes for FOXL1 Gene using alignment to 3 proteins:
- FOXL1_HUMAN
- M0R279_HUMAN
- Q498Y4_HUMAN
Variants for FOXL1 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs537362211 | uncertain-significance, not specified | 86,579,181(+) | A/C | coding_sequence_variant, missense_variant | |
| rs1000471177 | -- | 86,580,677(+) | C/T | 3_prime_UTR_variant | |
| rs1000574648 | -- | 86,577,249(+) | T/G | upstream_transcript_variant | |
| rs1000683970 | -- | 86,581,662(+) | C/T | 3_prime_UTR_variant | |
| rs1001362928 | -- | 86,577,925(+) | C/A/T | upstream_transcript_variant |
Residual Variation Intolerance Score:
75.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.75;
33.14% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FOXL1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXL1 Gene
Disorders for FOXL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lymphedema-distichiasis syndrome |
|
|
| hypoplastic left heart syndrome |
|
|
| distichiasis |
|
|
| congenital hydrocephalus |
|
|
| hereditary lymphedema |
|
|
Search FOXL1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FOXL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for FOXL1 Gene
Publications for FOXL1 Gene
- Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. (PMID: 7957066) Pierrou S … Carlsson P (The EMBO journal 1994) 2 3 4 56
- Mutational analysis of FOXL2 codon 134 in granulosa cell tumour of ovary and other human cancers. (PMID: 20198651) Kim MS … Lee SH (The Journal of pathology 2010) 3 43 56
- Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PMID: 19801982) Rivadeneira F … Genetic Factors for Osteoporosis (GEFOS) Consortium (Nature genetics 2009) 3 43 56
- Candidate gene analysis in primary lymphedema. (PMID: 18564921) Ferrell RE … Finegold DN (Lymphatic research and biology 2008) 3 43 56
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
ExternalLinks
Products for FOXL1 Gene
- Custom Antibody ServicesOriGene Antibodies for FOXL1
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- Overview of 71 available FOXL1 gene related products
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- Overview of 71 available FOXL1 gene related products
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- Overview of 71 available FOXL1 gene related products
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- Overview of 71 available FOXL1 gene related products
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Sources for FOXL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
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