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This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital... See more...
Aliases for FOXC1 Gene
Aliases for FOXC1 Gene
External Ids for FOXC1 Gene
- HGNC: 3800
- Entrez Gene: 2296
- Ensembl: ENSG00000054598
- OMIM: 601090
- UniProtKB: Q12948
Previous HGNC Symbols for FOXC1 Gene
- FKHL7
- IRID1
Previous GeneCards Identifiers for FOXC1 Gene
- GC06P001595
- GC06P001555
- GC06P001480
Summaries for FOXC1 Gene
-
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]
GeneCards Summary for FOXC1 Gene
FOXC1 (Forkhead Box C1) is a Protein Coding gene. Diseases associated with FOXC1 include Axenfeld-Rieger Syndrome, Type 3 and Anterior Segment Dysgenesis 3. Among its related pathways are Heart Development and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXC2.
UniProtKB/Swiss-Prot Summary for FOXC1 Gene
-
DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:15299087, PubMed:15684392, PubMed:16492674, PubMed:27907090, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:16449236, PubMed:17210863, PubMed:19793056, PubMed:19279310, PubMed:25786029, PubMed:27804176). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes (PubMed:7957066, PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176). Upon DNA-binding, promotes DNA bending (PubMed:7957066, PubMed:14506133). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). Regulates FOXO1 through binding to a conserved element, 5'-GTAAACAAA-3' in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963).
Additional gene information for FOXC1 Gene
- HGNC(3800)
- Entrez Gene(2296)
- Ensembl(ENSG00000054598)
- OMIM(601090)
- UniProtKB(Q12948)
- Open Targets Platform(ENSG00000054598)
- Monarch Initiative
- Search for FOXC1 at DataMed
- Search for FOXC1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXC1 Gene
Genomics for FOXC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FOXC1 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 FOXC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXC1
- Top Transcription factor binding sites by QIAGEN in the FOXC1 gene promoter:
-
- FOXO1
- FOXO1a
- FOXO4
- Nkx2-5
- SRF
- SRF (504 AA)
- STAT1
Genomic Locations for FOXC1 Gene
Genomic Locations for FOXC1 Gene
- chr6:1,609,915-1,613,897
- (GRCh38/hg38)
- Size:
- 3,983 bases
- Orientation:
- Plus strand
- chr6:1,610,681-1,614,132
- (GRCh37/hg19)
- Size:
- 3,452 bases
- Orientation:
- Plus strand
Genomic View for FOXC1 Gene
Genes around FOXC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p25.3 by HGNC
- 6p25.3 by Entrez Gene
- 6p25.3 by Ensembl
FOXC1 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 FOXC1 Gene
Proteins for FOXC1 Gene
-
Protein details for FOXC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12948-FOXC1_HUMAN
- Recommended name:
- Forkhead box protein C1
- Protein Accession:
- Q12948
- Q86UP7
- Q9BYM1
- Q9NUE5
- Q9UDD0
- Q9UP06
Protein attributes for FOXC1 Gene
- Size:
- 553 amino acids
- Molecular mass:
- 56789 Da
- Quaternary structure:
-
- Monomer. Interacts with C1QBP (PubMed:18676636). Interacts (via N-terminus) with GLI2 (via C-terminal internal region); this interaction is direct and increases GLI2 DNA-binding and transcriptional activity through a smoothened (SMO)-independent Hedgehog (Hh) signaling pathway (PubMed:26565916). Interacts (via C-terminus domain) with PITX2 isoform 3 (via homeobox domain) (PubMed:16449236). Interacts with FLNA and PBX1 (PubMed:15684392).
Protein Expression for FOXC1 Gene
Post-translational modifications for FOXC1 Gene
- Phosphorylated (PubMed:11782474, PubMed:19279310, PubMed:25786029). Phosphorylated on Ser-272 in response to epidermal growth factor (EGF) in a ERK1/2 MAPK-dependent signaling pathway; phosphorylation contributes to its protein stability and transcriptional activity (PubMed:16492674).
- Sumoylated preferentially with SUMO2 or SUMO3 (PubMed:22493429). Desumoylated by SENP2 (PubMed:22493429).
- Ubiquitinated, leading to its proteasomal degradation (PubMed:16492674).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for FOXC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FOXC1
- Novus Biologicals Antibodies for FOXC1
-
Abcam antibodies for FOXC1
- Invitrogen Antibodies for FOXC1 (AFLGC-FOXC1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for FOXC1
Protein Products
-
OriGene Purified Proteins for FOXC1
- Search Origene for MassSpec and Protein Over-expression Lysates for FOXC1
- Origene Custom Protein Services for FOXC1
-
Abcam proteins for FOXC1
No data available for DME Specific Peptides for FOXC1 Gene
Domains & Families for FOXC1 Gene
Gene Families for FOXC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for FOXC1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FOXC1 Gene
- GenScript: Design optimal peptide antigens:
-
- Forkhead box C1 (C6KMR8_HUMAN)
- Forkhead-related transcription factor 3 (FOXC1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FOXC1 Gene
Function for FOXC1 Gene
Molecular function for FOXC1 Gene
- UniProtKB/Swiss-Prot Function:
- DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:15299087, PubMed:15684392, PubMed:16492674, PubMed:27907090, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:16449236, PubMed:17210863, PubMed:19793056, PubMed:19279310, PubMed:25786029, PubMed:27804176). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes (PubMed:7957066, PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176). Upon DNA-binding, promotes DNA bending (PubMed:7957066, PubMed:14506133). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). Regulates FOXO1 through binding to a conserved element, 5'-GTAAACAAA-3' in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963).
- UniProtKB/Swiss-Prot Induction:
- Up-regulated during the progression of epidermal keratinocyte differentiation (at protein level) (PubMed:27907090). Up-regulated upon calcium-mediated keratinocyte differentiation (PubMed:27907090). Up-regulated by transforming growth factor TGFB1 (PubMed:12408963).
- GENATLAS Biochemistry:
- transcription factor-like 7,ubiquitously expressed,with a Drosophila homeo forkhead DNA binding domain homolog,homolog to the murine MF1,disrupted in congenital hydrocephalus
Phenotypes From GWAS Catalog for FOXC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA, ISS | -- |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 7957066 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISM | 19274049 |
| GO:0001223 | transcription coactivator binding | IEA,ISS | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 17993506 |
Phenotypes for FOXC1 Gene
- MGI mutant phenotypes for FOXC1:
-
inferred from 5 alleles
- nervous system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- pigmentation phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for FOXC1:
-
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- shRNA abundance <= 25%
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in pancreas lineage
- Decreased viability with paclitaxel
- Increased epidermal growth factor (EGF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased viability with carboplatin
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FOXC1 - Select products 50% OFF >
- * FOXC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FOXC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXC1
miRNA for FOXC1 Gene
- miRTarBase miRNAs that target FOXC1
-
- hsa-miR-204-5p (MIRT006344)
- hsa-miR-1236-3p (MIRT036256)
- hsa-miR-940 (MIRT036606)
- hsa-miR-877-5p (MIRT037280)
- hsa-miR-193b-3p (MIRT041194)
- hsa-miR-324-5p (MIRT043069)
- hsa-miR-378a-3p (MIRT043933)
- hsa-miR-200b-5p (MIRT099046)
- hsa-miR-125a-3p (MIRT099047)
- hsa-miR-200a-5p (MIRT099048)
- hsa-miR-552-3p (MIRT099050)
- hsa-miR-600 (MIRT099051)
- hsa-miR-5095 (MIRT099054)
- hsa-miR-6809-5p (MIRT099058)
- hsa-miR-6830-5p (MIRT099059)
- hsa-miR-7151-3p (MIRT099060)
- hsa-miR-450a-1-3p (MIRT099063)
- hsa-miR-329-5p (MIRT099064)
- hsa-miR-4464 (MIRT099065)
- hsa-miR-4748 (MIRT099066)
- hsa-miR-211-5p (MIRT099067)
- hsa-miR-623 (MIRT099069)
- hsa-miR-4446-5p (MIRT099072)
- hsa-miR-4755-5p (MIRT099073)
- hsa-miR-5006-3p (MIRT099074)
- hsa-miR-6832-3p (MIRT099075)
- hsa-miR-219a-5p (MIRT099110)
- hsa-miR-3607-3p (MIRT099112)
- hsa-miR-4646-3p (MIRT099113)
- hsa-miR-4782-3p (MIRT099114)
- hsa-miR-6766-3p (MIRT099115)
- hsa-miR-17-5p (MIRT257278)
- hsa-miR-20a-5p (MIRT257279)
- hsa-miR-93-5p (MIRT257280)
- hsa-miR-106a-5p (MIRT257281)
- hsa-miR-223-5p (MIRT257282)
- hsa-miR-106b-5p (MIRT257283)
- hsa-miR-302b-5p (MIRT257285)
- hsa-miR-302d-5p (MIRT257286)
- hsa-miR-20b-5p (MIRT257287)
- hsa-miR-526b-3p (MIRT257288)
- hsa-miR-519d-3p (MIRT257289)
- hsa-miR-500a-5p (MIRT257290)
- hsa-miR-501-5p (MIRT257291)
- hsa-miR-3609 (MIRT257295)
- hsa-miR-548ah-5p (MIRT257297)
- hsa-miR-4796-3p (MIRT257298)
- hsa-miR-374a-5p (MIRT260591)
- hsa-miR-374b-5p (MIRT260596)
- hsa-miR-4792 (MIRT316740)
- hsa-miR-31-5p (MIRT316765)
- hsa-miR-605-3p (MIRT316766)
- hsa-miR-3175 (MIRT316768)
- hsa-miR-3185 (MIRT316769)
- hsa-miR-6758-5p (MIRT316771)
- hsa-miR-6856-5p (MIRT316772)
- hsa-miR-561-3p (MIRT316774)
- hsa-miR-548e-5p (MIRT316775)
- hsa-miR-4742-5p (MIRT316776)
- hsa-miR-548at-5p (MIRT316777)
- hsa-miR-6835-3p (MIRT316778)
- hsa-miR-32-3p (MIRT316786)
- hsa-miR-4477a (MIRT316787)
- hsa-miR-4790-3p (MIRT316788)
- hsa-miR-639 (MIRT438413)
- hsa-miR-139-3p (MIRT454701)
- hsa-miR-483-5p (MIRT454702)
- hsa-miR-7106-5p (MIRT483136)
- hsa-miR-6739-5p (MIRT483137)
- hsa-miR-6733-5p (MIRT483138)
- hsa-miR-3153 (MIRT483139)
- hsa-miR-765 (MIRT483140)
- hsa-miR-6783-5p (MIRT483141)
- hsa-miR-4779 (MIRT483142)
- hsa-miR-6516-5p (MIRT540046)
- hsa-miR-302c-5p (MIRT540047)
- hsa-miR-5047 (MIRT540048)
- hsa-miR-1301-3p (MIRT540049)
- hsa-miR-7156-3p (MIRT540050)
- hsa-miR-107 (MIRT540051)
- hsa-miR-103a-3p (MIRT540052)
- hsa-miR-4439 (MIRT548178)
- hsa-miR-943 (MIRT548179)
- hsa-miR-3136-5p (MIRT548180)
- hsa-miR-6857-3p (MIRT548181)
- hsa-miR-4513 (MIRT548182)
- hsa-miR-6855-3p (MIRT548183)
- hsa-miR-4433b-5p (MIRT557833)
- hsa-miR-6895-5p (MIRT557834)
- hsa-miR-6715b-3p (MIRT567508)
- hsa-miR-6758-3p (MIRT567509)
- hsa-miR-5688 (MIRT567510)
- hsa-miR-495-3p (MIRT567511)
- hsa-miR-6513-5p (MIRT567512)
- hsa-miR-887-5p (MIRT567513)
- hsa-miR-3913-5p (MIRT567514)
- hsa-miR-3122 (MIRT567515)
- hsa-miR-8059 (MIRT567516)
- hsa-miR-4471 (MIRT567517)
- hsa-miR-1292-5p (MIRT567518)
- hsa-miR-4692 (MIRT567519)
- hsa-miR-4514 (MIRT567520)
- hsa-miR-6715b-5p (MIRT567521)
- hsa-miR-4269 (MIRT567522)
- hsa-miR-138-5p (MIRT731845)
- hsa-miR-133b (MIRT734543)
Transcription Factor Targets for FOXC1 Gene
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for FOXC1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for FOXC1
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Cell Line Products
-
Horizon Cell Lines for FOXC1
No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for FOXC1 Gene
Localization for FOXC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FOXC1 Gene
- Nucleus. Note=Colocalizes with PITX2 isoform 3 in the nucleus at subnuclear chromatine regions (PubMed:16449236). Colocalizes with CBX5 to a heterochromatin-rich region of the nucleus (PubMed:15684392). Colocalizes with GLI2 in the nucleus (By similarity). {ECO:0000250 UniProtKB:Q61572, ECO:0000269 PubMed:15684392, ECO:0000269 PubMed:16449236}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
- Cytosol (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | IBA,IDA | 11179011 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005720 | nuclear heterochromatin | IDA | 15684392 |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for FOXC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transcriptional Regulatory Network in Embryonic Stem Cell |
Transcriptional Regulatory Network in Embryonic Stem Cell
-
|
|
| 2 | Heart Development | ||
| 3 | Mesodermal Commitment Pathway | ||
Pathways by source for FOXC1 Gene
2 BioSystems pathways for FOXC1 Gene
1 Qiagen pathway for FOXC1 Gene
- Transcriptional Regulatory Network in Embryonic Stem Cell
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,ISS | -- |
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0001503 | ossification | IEA | -- |
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0001541 | ovarian follicle development | IEA | -- |
Transcripts for FOXC1 Gene
mRNA/cDNA for FOXC1 Gene
- 1 REFSEQ mRNAs :
- 4 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000645831 3983 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FOXC1 - Select products 50% OFF >
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for FOXC1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for FOXC1
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Relevant External Links for FOXC1 Gene
- GeneLoc Exon Structure for
- FOXC1
Expression for FOXC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Neural Crest (Gastrulation Derivatives)
- Cardiac Neural Crest Cells "Branchial Arch 3,4,6"
- Cranial Neural Crest Cells Branchial Arch 1
- Cardiac Neural Crest Cells Cardiac Neural Crest
- PureStem 4D20.8, NCr-fac Progenitor
- PureStem MEL2, NCr-fac Progenitor
-
Heart (Cardiovascular System)
- Endocardial Tube Cells Endocardium
- Cushion Mesenchymal Cells Endocardium
- Endocardial Cells Endocardium
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
-
Head Mesenchyme (Muscoskeletal System)
- Cardiac Neural Crest Cells "Branchial Arch 3,4,6"
- Cranial Neural Crest Cells Branchial Arch 1
-
Endothelium (Cardiovascular System)
- Periocular Mesenchymal Cells Periocular Mesenchyme
- Angioblasts Embryonic Blood Islands
- Hair (Integumentary System)
-
Brain (Nervous System)
- Meningeal Progenitor Cells Anterior Meninges
- Meningeal Cells Anterior Meninges
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Angioblasts Embryonic Blood Islands
- PureStem E15, Meso-prx/latp Progenitor
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Extraocular Muscles
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Mesoderm (Gastrulation Derivatives)
- Adipose (Muscoskeletal System)
-
Eye (Sensory Organs)
- Periocular Mesenchymal Cells Periocular Mesenchyme
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Paraxial Mesoderm (Gastrulation Derivatives)
- Epidermis (Integumentary System)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for FOXC1 Gene
This gene is overexpressed in Artery - Tibial (x9.2), Artery - Aorta (x8.8), and Artery - Coronary (x5.1).
This gene is overexpressed in Pancreas (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FOXC1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXC1
SOURCE GeneReport for Unigene cluster for FOXC1 Gene:
Hs.348883mRNA Expression by UniProt/SwissProt for FOXC1 Gene:
Q12948-FOXC1_HUMAN
Tissue specificity:
Expressed in keratinocytes of epidermis and hair follicle (PubMed:27907090). Expressed strongly in microvascular invasion (MVI) formation, basal-like breast cancer (BLBC) and hepatocellular tumors (PubMed:20406990, PubMed:22991501). Expressed in breast cancers (at protein level) (PubMed:26565916). Expressed in hematopoietic cells (PubMed:8499623).
Evidence on tissue expression from TISSUES for FOXC1 Gene
- Heart(4.2)
- Nervous system(4)
- Stomach(4)
- Muscle(3.9)
- Kidney(3.7)
- Liver(3.6)
- Intestine(3.6)
- Eye(2.7)
- Skin(2.3)
- Lung(2.2)
- Lymph node(2.1)
- Blood(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXC1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- nose
- pituitary gland
- skull
- tooth
Thorax:
- heart
- heart valve
Abdomen:
- abdominal wall
- intestine
- large intestine
Pelvis:
- anus
- penis
- rectum
- testicle
- urethra
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for FOXC1
Gene Expression Assay Products
Orthologs for FOXC1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FOXC1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Foxc1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Foxc1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | FOXC1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FOXI3 31 |
|
ManyToMany | |
| Cow (Bos Taurus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxc1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | xfd-11 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | foxc1a 30 30 31 |
|
ManyToMany | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10228 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | fd64A 32 |
|
|
|
| fd96Cb 32 |
|
|
|||
| croc 31 32 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for FOXC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Chicken (Gallus gallus)
- 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)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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)
Evolution for FOXC1 Gene
- ENSEMBL:
- Gene Tree for FOXC1 (if available)
- TreeFam:
- Gene Tree for FOXC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FOXC1: view image
Paralogs for FOXC1 Gene
Paralogs for FOXC1 Gene
- FOXC2 5
- FOXS1 5
- FOXA2 5
- FOXA1 5
- FOXE3 5
- FOXL1 5
- FOXD3 5
- FOXD2 5
- FOXE1 5
- FOXB1 5
- FOXD1 5
- FOXI3 5
- FOXA3 5
- FOXK2 5
- FOXD4L6 5
- FOXL2 5
- FOXI2 5
- FOXD4L5 5
- FOXD4L1 5
- FOXD4L4 5
- FOXD4 5
- FOXD4L3 5
- FOXB2 5
- FOXJ3 5
- FOXK1 5
- FOXM1 5
- FOXF1 5
- FOXQ1 5
- FOXL3 5
- FOXJ2 5
- FOXO4 5
- FOXH1 5
- FOXN1 5
- FOXO6 5
- FOXO3 5
- FOXJ1 5
- FOXO1 5
- ENSG00000285708 5
- FOXP1 5
- FOXP3 5
- FOXR1 5
- FOXR2 5
- FOXO3B 5
(20) SIMAP similar genes for FOXC1 Gene using alignment to 3 proteins:
- FOXC1_HUMAN
- A3KPE3_HUMAN
- C6KMR8_HUMAN
Variants for FOXC1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXC1 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 568112 | Pathogenic: Axenfeld-Rieger syndrome type 3 | 1,610,445(+) | CATGCAGGCGCGCTAC | INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT | |
| 640532 | Uncertain Significance: Axenfeld-Rieger syndrome type 3 | 1,610,789(+) | A/G | MISSENSE_VARIANT | |
| 651309 | Uncertain Significance: Axenfeld-Rieger syndrome type 3 | 1,610,931(+) | C/G | MISSENSE_VARIANT | |
| 660083 | Uncertain Significance: Axenfeld-Rieger syndrome type 3 | 1,610,953(+) | C/T | MISSENSE_VARIANT | |
| 666565 | Likely Pathogenic: Axenfeld-Rieger syndrome type 3 | 1,610,806(+) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv992n67 | CNV | gain | 20364138 |
| nsv1016859 | CNV | gain | 25217958 |
| nsv1073530 | CNV | deletion | 25765185 |
| nsv1073531 | CNV | deletion | 25765185 |
| nsv1119067 | CNV | deletion | 24896259 |
| nsv1119068 | CNV | deletion | 24896259 |
| nsv600807 | CNV | loss | 21841781 |
| nsv823397 | CNV | gain | 20364138 |
| nsv823399 | CNV | gain | 20364138 |
| nsv823400 | CNV | gain | 20364138 |
Gene Damage Index Score:
7.63;
82.73% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FOXC1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXC1 Gene
Disorders for FOXC1 Gene
(53) MalaCards diseases for FOXC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| axenfeld-rieger syndrome, type 3 |
|
|
| anterior segment dysgenesis 3 |
|
|
| axenfeld-rieger syndrome |
|
|
| isolated aniridia |
|
|
| peters-plus syndrome |
|
Search FOXC1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FOXC1_HUMAN- Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. {ECO:0000269 PubMed:11170889, ECO:0000269 PubMed:11179011, ECO:0000269 PubMed:11589884, ECO:0000269 PubMed:11740218, ECO:0000269 PubMed:12454026, ECO:0000269 PubMed:12592227, ECO:0000269 PubMed:14506133, ECO:0000269 PubMed:14578375, ECO:0000269 PubMed:15277473, ECO:0000269 PubMed:15477465, ECO:0000269 PubMed:16449236, ECO:0000269 PubMed:16936096, ECO:0000269 PubMed:17210863, ECO:0000269 PubMed:17653043, ECO:0000269 PubMed:19279310, ECO:0000269 PubMed:23239455, ECO:0000269 PubMed:24914578, ECO:0000269 PubMed:25786029, ECO:0000269 PubMed:27804176, ECO:0000269 PubMed:9792859}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant. {ECO:0000269 PubMed:12614756, ECO:0000269 PubMed:18484311, ECO:0000269 PubMed:19279310, ECO:0000269 PubMed:19793056, ECO:0000269 PubMed:20881294, ECO:0000269 PubMed:9620769}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FOXC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for FOXC1 Gene
Publications for FOXC1 Gene
- Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. (PMID: 20881294) D'haene B … De Baere E (Investigative ophthalmology & visual science 2011) 3 4 41
- FOXC1 is a potential prognostic biomarker with functional significance in basal-like breast cancer. (PMID: 20406990) Ray PS … Cui X (Cancer research 2010) 3 4 23
- The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. (PMID: 18708620) Chakrabarti S … Thomas R (Investigative ophthalmology & visual science 2009) 3 23 41
- Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. (PMID: 19793056) Fetterman CD … Walter MA (Clinical genetics 2009) 3 4 23
- Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. (PMID: 19279310) Ito YA … Walter MA (Investigative ophthalmology & visual science 2009) 3 4 23
ExternalLinks
Products for FOXC1 Gene
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- Novus Biologicals proteins and lysates for FOXC1
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- VectorBuilder Virus packaging for FOXC1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
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- antibodies-online: Show 37 available FOXC1 Antibodies ranked by validation data
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXC1
Sources for FOXC1 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) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
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- (172) GENCODE
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- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB