Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatas... See more...
Aliases for CGNL1 Gene
Aliases for CGNL1 Gene
External Ids for CGNL1 Gene
- HGNC: 25931
- Entrez Gene: 84952
- Ensembl: ENSG00000128849
- OMIM: 607856
- UniProtKB: Q0VF96
Previous GeneCards Identifiers for CGNL1 Gene
- GC15P055456
- GC15P057668
- GC15P034553
Summaries for CGNL1 Gene
-
This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]
GeneCards Summary for CGNL1 Gene
CGNL1 (Cingulin Like 1) is a Protein Coding gene. Diseases associated with CGNL1 include Aromatase Excess Syndrome and Estrogen Excess. Among its related pathways are Tight junction. Gene Ontology (GO) annotations related to this gene include motor activity. An important paralog of this gene is CGN.
UniProtKB/Swiss-Prot Summary for CGNL1 Gene
-
May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.
Additional gene information for CGNL1 Gene
- HGNC(25931)
- Entrez Gene(84952)
- Ensembl(ENSG00000128849)
- OMIM(607856)
- UniProtKB(Q0VF96)
- Open Targets Platform(ENSG00000128849)
- Monarch Initiative
- Search for CGNL1 at DataMed
- Search for CGNL1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CGNL1 Gene
Genomics for CGNL1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CGNL1 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 CGNL1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CGNL1
- Top Transcription factor binding sites by QIAGEN in the CGNL1 gene promoter:
-
- AREB6
- C/EBPbeta
- Cart-1
- Chx10
- deltaCREB
- E47
- LyF-1
- Pax-2
- Pax-2a
- Tal-1beta
Genomic Locations for CGNL1 Gene
Genomic Locations for CGNL1 Gene
- chr15:57,375,967-57,550,727
- (GRCh38/hg38)
- Size:
- 174,761 bases
- Orientation:
- Plus strand
- chr15:57,668,165-57,842,925
- (GRCh37/hg19)
- Size:
- 174,761 bases
- Orientation:
- Plus strand
Genomic View for CGNL1 Gene
Genes around CGNL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q21.3 by HGNC
- 15q21.3 by Entrez Gene
- 15q21.3 by Ensembl
CGNL1 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 CGNL1 Gene
Proteins for CGNL1 Gene
-
Protein details for CGNL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q0VF96-CGNL1_HUMAN
- Recommended name:
- Cingulin-like protein 1
- Protein Accession:
- Q0VF96
- Q05BZ4
- Q52LR0
- Q695C7
- Q7Z2L3
- Q96JV2
- Q96MN6
- Q9C0B4
Protein attributes for CGNL1 Gene
- Size:
- 1302 amino acids
- Molecular mass:
- 149079 Da
- Quaternary structure:
-
- Homodimer or oligomer (By similarity). Interacts with CD2AP and SH3BP1; probably part of a complex at cell junctions (PubMed:22891260).
- SequenceCaution:
-
- Sequence=AAH30995.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Protein Expression for CGNL1 Gene
Post-translational modifications for CGNL1 Gene
Other Protein References for CGNL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CGNL1
- Invitrogen Antibodies for CGNL1 (AFLGC-CGNL1)
-
Biorbyt antibodies for CGNL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CGNL1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CGNL1
- Origene Custom Protein Services for CGNL1
- Novus Biologicals proteins for CGNL1
No data available for DME Specific Peptides for CGNL1 Gene
Domains & Families for CGNL1 Gene
Gene Families for CGNL1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for CGNL1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CGNL1 Gene
- GenScript: Design optimal peptide antigens:
-
- Paracingulin (CGNL1_HUMAN)
- CGNL1 protein (Q6P5Q2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q0VF96UniProtKB/Swiss-Prot:
CGNL1_HUMAN :- The head region is responsible for both junction and actin filament-based distribution.
- Belongs to the cingulin family.
- Domain:
-
- The head region is responsible for both junction and actin filament-based distribution.
- Family:
-
- Belongs to the cingulin family.
Function for CGNL1 Gene
Molecular function for CGNL1 Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.
Phenotypes From GWAS Catalog for CGNL1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003774 | motor activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 22891260 |
Phenotypes for CGNL1 Gene
- MGI mutant phenotypes for CGNL1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CGNL1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CGNL1 - Select products 50% OFF >
- * CGNL1 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 CGNL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CGNL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CGNL1
miRNA for CGNL1 Gene
- miRTarBase miRNAs that target CGNL1
-
- hsa-miR-335-5p (MIRT018735)
- hsa-miR-215-5p (MIRT024620)
- hsa-miR-192-5p (MIRT026805)
- hsa-miR-744-5p (MIRT037512)
- hsa-miR-130b-5p (MIRT038313)
- hsa-miR-125a-5p (MIRT045751)
- hsa-miR-195-5p (MIRT437659)
- hsa-miR-1273h-5p (MIRT762026)
- hsa-miR-149-3p (MIRT762775)
- hsa-miR-1827 (MIRT763030)
- hsa-miR-3065-3p (MIRT764541)
- hsa-miR-30b-3p (MIRT764564)
- hsa-miR-30c-1-3p (MIRT764649)
- hsa-miR-30c-2-3p (MIRT764694)
- hsa-miR-3122 (MIRT764800)
- hsa-miR-3165 (MIRT765178)
- hsa-miR-340-3p (MIRT765709)
- hsa-miR-3613-3p (MIRT765981)
- hsa-miR-3622a-3p (MIRT766121)
- hsa-miR-3622b-3p (MIRT766142)
- hsa-miR-3665 (MIRT766532)
- hsa-miR-3689a-3p (MIRT766792)
- hsa-miR-3689b-3p (MIRT766880)
- hsa-miR-3689c (MIRT766968)
- hsa-miR-383-3p (MIRT767556)
- hsa-miR-3913-5p (MIRT767604)
- hsa-miR-3929 (MIRT767764)
- hsa-miR-4293 (MIRT768420)
- hsa-miR-4419b (MIRT768760)
- hsa-miR-4433a-3p (MIRT768988)
- hsa-miR-4459 (MIRT769248)
- hsa-miR-4478 (MIRT769511)
- hsa-miR-450a-1-3p (MIRT769837)
- hsa-miR-4649-3p (MIRT770621)
- hsa-miR-4684-5p (MIRT770985)
- hsa-miR-4728-5p (MIRT771690)
- hsa-miR-4736 (MIRT771804)
- hsa-miR-4768-3p (MIRT772066)
- hsa-miR-485-5p (MIRT772599)
- hsa-miR-544b (MIRT773997)
- hsa-miR-6513-5p (MIRT776990)
- hsa-miR-665 (MIRT777540)
- hsa-miR-6765-3p (MIRT778530)
- hsa-miR-6771-3p (MIRT778610)
- hsa-miR-6779-5p (MIRT778869)
- hsa-miR-6780a-5p (MIRT778960)
- hsa-miR-6785-5p (MIRT779100)
- hsa-miR-6787-3p (MIRT779184)
- hsa-miR-6788-5p (MIRT779226)
- hsa-miR-6799-5p (MIRT779390)
- hsa-miR-6808-5p (MIRT779654)
- hsa-miR-6827-3p (MIRT779907)
- hsa-miR-6849-3p (MIRT780265)
- hsa-miR-6883-5p (MIRT780896)
- hsa-miR-6884-5p (MIRT780987)
- hsa-miR-6893-5p (MIRT781187)
- hsa-miR-7106-5p (MIRT781325)
- hsa-miR-7160-5p (MIRT781596)
- hsa-miR-7162-3p (MIRT781678)
- hsa-miR-887-5p (MIRT782548)
- hsa-miR-940 (MIRT782881)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CGNL1
- Browse OriGene Inhibitory RNA Products For CGNL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CGNL1
Clone Products
- Applied Biological Materials (abm): Clones for CGNL1 - Select products 50% OFF >
- * CGNL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CGNL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CGNL1
Cell Line Products
-
Horizon Cell Lines for CGNL1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CGNL1 Gene
Localization for CGNL1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CGNL1 Gene
- Cell junction, tight junction. Note=Localizes to the apical junction complex composed of tight and adherens junctions (PubMed:22891260). In the liver and kidney, it is also found along non-junctional actin filament bundles in addition to the apical junction (By similarity). {ECO:0000250 UniProtKB:Q6AW69, ECO:0000269 PubMed:22891260}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| nucleus | 4 |
| cytosol | 4 |
| golgi apparatus | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| peroxisome | 1 |
- Cell Junctions (3)
- Nuclear bodies (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005923 | bicellular tight junction | IEA | -- |
| GO:0016459 | myosin complex | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
| GO:0032991 | protein-containing complex | IDA | 25753039 |
Pathways & Interactions for CGNL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Tight junction | ||
Pathways by source for CGNL1 Gene
1 KEGG pathway for CGNL1 Gene
Interacting Proteins for CGNL1 Gene
GPS-Prot Interaction Network for CGNL1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007015 | actin filament organization | IMP | 22891260 |
| GO:0051058 | negative regulation of small GTPase mediated signal transduction | IMP | 22891260 |
| GO:0051497 | negative regulation of stress fiber assembly | IMP | 25753039 |
No data available for SIGNOR curated interactions for CGNL1 Gene
Transcripts for CGNL1 Gene
mRNA/cDNA for CGNL1 Gene
- 2 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000559194 577 nts (view in UCSC)
- ENST00000281282 7224 nts (view in UCSC)
- ENST00000557813 915 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CGNL1 - Select products 50% OFF >
- * CGNL1 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 CGNL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CGNL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CGNL1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CGNL1
- Browse OriGene Inhibitory RNA Products For CGNL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CGNL1
Clone Products
- Applied Biological Materials (abm): Clones for CGNL1 - Select products 50% OFF >
- * CGNL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CGNL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CGNL1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - |
| ExUns: | 23 | ^ | 24 |
|---|---|---|---|
| SP1: | |||
| SP2: | |||
| SP3: | |||
| SP4: | |||
| SP5: | |||
| SP6: | |||
| SP7: |
Relevant External Links for CGNL1 Gene
- GeneLoc Exon Structure for
- CGNL1
Expression for CGNL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Heart (Cardiovascular System)
- Endocardial Tube Cells Endocardium
- Cushion Mesenchymal Cells Endocardium
- Endothelium (Cardiovascular System)
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Umbilical Cord (Extraembryonic Tissues)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
- Brain (Nervous System)
- Neurons
-
Kidney (Urinary System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for CGNL1 Gene
This gene is overexpressed in Kidney - Cortex (x5.2).
This gene is overexpressed in Cervix (13.2), Adrenal (12.8), and Placenta (9.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CGNL1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CGNL1
SOURCE GeneReport for Unigene cluster for CGNL1 Gene:
Hs.148989mRNA Expression by UniProt/SwissProt for CGNL1 Gene:
Q0VF96-CGNL1_HUMAN
Tissue specificity:
Smooth muscle, spleen, testis, fetal brain, amygdala, corpus callosum, cerebellum, thalamus and subthalamic nucleus of adult brain.
Evidence on tissue expression from TISSUES for CGNL1 Gene
- Kidney(4.7)
- Liver(4.6)
- Nervous system(4.6)
- Intestine(4.4)
- Heart(2.6)
- Skin(2.5)
- Stomach(2.4)
- Lung(2.4)
- Muscle(2.3)
- Eye(2.2)
- Blood(2.2)
Primer Products
-
OriGene qPCR primer pairs for CGNL1
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CGNL1 Gene
Orthologs for CGNL1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CGNL1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CGNL1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CGNL1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cgnl1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cgnl1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CGNL1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | CGNL1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CGNL1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cgnl1 30 |
|
||
| Str.15211 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7082 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cgnl1 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ASF2 33 |
|
|
- Species where no ortholog for CGNL1 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)
- 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 Vase (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)
Evolution for CGNL1 Gene
- ENSEMBL:
- Gene Tree for CGNL1 (if available)
- TreeFam:
- Gene Tree for CGNL1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CGNL1: view image
Paralogs for CGNL1 Gene
Paralogs for CGNL1 Gene
- CGN 5
- MYH10 5
- MYH9 5
- MYH11 5
- MYH14 5
- MYO18A 5
- MYH13 5
- MYH2 5
- MYH1 5
- MYH8 5
- MYH4 5
- MYH3 5
- MYH6 5
- MYH7B 5
- MYH7 5
- TMF1 5
- MYO5A 5
- MYO18B 5
- MYO5B 5
- MYO10 5
- MYO5C 5
- MYO9A 5
- MYO7B 5
- MYO7A 5
- MYO15A 5
- MYO9B 5
- MYH15 5
- MYO1E 5
- MYO3A 5
- CCDC158 5
- MYO16 5
- MYO1F 5
- MYO1B 5
- MYO6 5
- MYO3B 5
- MYO1C 5
- MYO1G 5
- MYO1A 5
- MYO19 5
- MYO1D 5
- CCDC102A 5
- MYO1H 5
- CCDC102B 5
- ENSG00000266997 5
(1) SIMAP similar genes for CGNL1 Gene using alignment to 2 proteins:
- CGNL1_HUMAN
- Q6P5Q2_HUMAN
Variants for CGNL1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CGNL1 Gene
| SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 726907 | Likely Benign: not provided | 57,518,428(+) | C/T | SYNONYMOUS_VARIANT | |
| 735974 | Likely Benign: not provided | 57,439,317(+) | G/T | MISSENSE_VARIANT | |
| 735975 | Likely Benign: not provided | 57,544,499(+) | C/T | SYNONYMOUS_VARIANT | |
| 783056 | Benign: not provided | 57,523,584(+) | C/T | SYNONYMOUS_VARIANT | |
| 783057 | Benign: not provided | 57,544,562(+) | C/T | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2607n100 | CNV | gain | 25217958 |
| dgv4556n54 | CNV | gain | 21841781 |
| esv2454508 | CNV | deletion | 19546169 |
| esv2751536 | CNV | gain | 17911159 |
| esv2761873 | CNV | gain | 21179565 |
| esv2763103 | CNV | loss | 21179565 |
| esv3636608 | CNV | gain | 21293372 |
| esv3636609 | CNV | gain | 21293372 |
| nsv1045611 | CNV | gain | 25217958 |
| nsv1054547 | CNV | gain | 25217958 |
| nsv1116074 | CNV | deletion | 24896259 |
| nsv457166 | CNV | gain | 19166990 |
| nsv516366 | CNV | gain+loss | 19592680 |
| nsv569590 | CNV | loss | 21841781 |
| nsv569591 | CNV | loss | 21841781 |
| nsv569592 | CNV | gain | 21841781 |
| nsv7266 | OTHER | inversion | 18451855 |
| nsv833021 | CNV | gain | 17160897 |
| nsv833022 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.93;
93.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CGNL1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CGNL1 Gene
Disorders for CGNL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| aromatase excess syndrome |
|
|
| estrogen excess |
|
|
Search CGNL1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CGNL1_HUMAN- Aromatase excess syndrome (AEXS) [MIM:139300]: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. {ECO:0000269 PubMed:12736278}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration inv(15)(q21.2;q21.3) has been found in patients with aromatase excess syndrome. The inversion moves the promoter of the CGNL1 gene into a 5-prime position in relation to the aromatase coding region.
Additional Disease Information for CGNL1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CGNL1 Gene
Publications for CGNL1 Gene
- Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
- Epithelial junction formation requires confinement of Cdc42 activity by a novel SH3BP1 complex. (PMID: 22891260) Elbediwy A … Balda MS (The Journal of cell biology 2012) 3 4
- Distinct domains of paracingulin are involved in its targeting to the actin cytoskeleton and regulation of apical junction assembly. (PMID: 22315225) Paschoud S … Citi S (The Journal of biological chemistry 2012) 2 3
- Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder. (PMID: 21305692) Belmonte Mahon P … Zandi PP (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011) 3 41
- Paracingulin regulates the activity of Rac1 and RhoA GTPases by recruiting Tiam1 and GEF-H1 to epithelial junctions. (PMID: 18653465) Guillemot L … Citi S (Molecular biology of the cell 2008) 3 23
ExternalLinks
Products for CGNL1 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CGNL1
- Origene Custom Protein Services for CGNL1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CGNL1
- Browse OriGene Inhibitory RNA Products For CGNL1
- OriGene qPCR primer pairs for CGNL1
- OriGene CRISPR knockouts for CGNL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CGNL1
- Sino Biological Human cDNA Clone for CGNL1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CGNL1
- Novus Biologicals proteins for CGNL1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for CGNL1 (AFLGC-CGNL1)
- VectorBuilder Custom and pre-made DNA vectors for CGNL1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CGNL1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CGNL1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CGNL1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CGNL1
- antibodies-online: Show 9 available CGNL1 Antibodies ranked by validation data
- Compare Top CGNL1 Antibodies
- antibodies-online: Search results for available CGNL1 related products ranked by validation data
- antibodies-online: Search results for available CGNL1 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for CGNL1
- Search Santa Cruz Biotechnology (SCBT) for CGNL1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CGNL1
- Horizon Cell Lines for CGNL1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CGNL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CGNL1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CGNL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CGNL1
- Biorbyt antibodies for CGNL1
Sources for CGNL1 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
- (129) BRCA Exchange
- (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
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB