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 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
- 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 , fRNAdb sequence ontologies and piRNA Summary for CGNL1 Gene
Genomics for CGNL1 Gene
GeneHancer (GH) Regulatory Elements for CGNL1 Gene
Promoters and enhancers for CGNL1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH15I057375 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 550.8 | +0.9 | 880 | 1.8 | FOXA2 ARID4B SIN3A RAD21 YY1 GLIS2 SCRT2 ZNF202 SP3 RXRA | GC15P057377 CGNL1 | |
| GH15I057417 | Promoter | 0.5 | EPDnew | 550.3 | +41.1 | 41087 | 0.1 | CGNL1 RNU6-844P GC15P057377 GC15P057471 | ||
| GH15I057504 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE dbSUPER | 19.1 | +130.1 | 130081 | 4.1 | ELF3 PKNOX1 FOXA2 NEUROD1 SIN3A RAD21 SCRT2 ZNF143 FOS MXD4 | CGNL1 RNU6-844P GC15P057504 ENSG00000261265 | |
| GH15I057474 | Enhancer | 1.1 | Ensembl ENCODE | 15.5 | +101.4 | 101361 | 4.8 | FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 RXRA ZHX2 | ENSG00000261489 CGNL1 RNU6-844P GC15P057471 | |
| GH15I057485 | Enhancer | 1 | Ensembl ENCODE | 17 | +110.1 | 110138 | 1.7 | ELF3 TFAP4 PKNOX1 SAP130 JUN BACH1 RAD21 THRB RARA ETS1 | CGNL1 RNU6-844P GCOM1 POLR2M ENSG00000261489 GC15P057502 GC15P057503 PIR54453 GC15P057501 GC15P057500 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CGNL1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for CGNL1 Gene
Genes around CGNL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q21.3 by Ensembl
- 15q21.3 by Entrez Gene
- 15q21.3 by HGNC
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
- Ubiquitination at Lys525 and Lys681
Other Protein References for CGNL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CGNL1
- Invitrogen Antibodies for CGNL1
- Search GeneTex for 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
- Search GeneTex for Proteins for CGNL1
Assay Products
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:
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
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CGNL1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CGNL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CGNL1 gene
- Search ViGene Biosciences for CGNL1
CRISPR Products
-
OriGene CRISPR knockouts for CGNL1
- genomics-online: gRNA clones - Search results for 89 available CGNL1 gene related products
- Overview of 89 available CGNL1 gene related products
- Applied Biological Materials CRISPR for CGNL1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CGNL1
- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for CGNL1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for CGNL1
- Browse OriGene Inhibitory RNA Products For CGNL1
- genomics-online: shRNA clones - Search results for 89 available CGNL1 gene related products
- Overview of 89 available CGNL1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CGNL1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CGNL1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CGNL1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for CGNL1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CGNL1
-
ViGene Biosciences adenoviral particle packaged cDNA for CGNL1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CGNL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CGNL1 gene
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 | 3 |
| golgi apparatus | 2 |
- Cell Junctions (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005923 | bicellular tight junction | IEA | -- |
| GO:0016459 | myosin complex | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for CGNL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Tight junction | ||
Pathways by source for CGNL1 Gene
1 KEGG pathway for CGNL1 Gene
| 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 |
No data available for SIGNOR curated interactions for CGNL1 Gene
Transcripts for CGNL1 Gene
mRNA/cDNA for CGNL1 Gene
- (8) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (118) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CGNL1 Gene
- Cingulin-like 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for CGNL1
- genomics-online: gRNA clones - Search results for 89 available CGNL1 gene related products
- Overview of 89 available CGNL1 gene related products
- Applied Biological Materials CRISPR for CGNL1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CGNL1
- GenScript: Design CRISPR guide RNA sequences for CGNL1
miRNA Products
- Search ViGene Biosciences for CGNL1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for CGNL1
- Browse OriGene Inhibitory RNA Products For CGNL1
- genomics-online: shRNA clones - Search results for 89 available CGNL1 gene related products
- Overview of 89 available CGNL1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CGNL1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CGNL1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CGNL1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for CGNL1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of CGNL1 Gene:
CGNL1SOURCE 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(4.6)
- Liver(4.4)
- Nervous system(4.3)
- Intestine(4.1)
Primer Products
-
OriGene qPCR primer pairs for CGNL1
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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | CGNL1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CGNL1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cgnl1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cgnl1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CGNL1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | CGNL1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CGNL1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cgnl1 33 |
|
||
| Str.15211 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7082 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cgnl1 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ASF2 36 |
|
|
- Species where no ortholog for CGNL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for CGNL1 Gene
(1) SIMAP similar genes for CGNL1 Gene using alignment to 2 proteins:
Variants for CGNL1 Gene
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs483352760 | conflicting-interpretations-of-pathogenicity, not provided | 57,461,811(+) | T/C | coding_sequence_variant, synonymous_variant | |
| rs1000007593 | -- | 57,435,287(+) | G/A | intron_variant | |
| rs1000011608 | -- | 57,402,074(+) | G/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000036848 | -- | 57,435,079(+) | G/A | intron_variant | |
| rs1000053863 | -- | 57,517,940(+) | G/A/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv833022 | CNV | gain | 17160897 |
| nsv833021 | CNV | gain | 17160897 |
| nsv7266 | OTHER | inversion | 18451855 |
| nsv569592 | CNV | gain | 21841781 |
| nsv569591 | CNV | loss | 21841781 |
| nsv569590 | CNV | loss | 21841781 |
| nsv516366 | CNV | gain+loss | 19592680 |
| nsv457166 | CNV | gain | 19166990 |
| nsv1116074 | CNV | deletion | 24896259 |
| nsv1054547 | CNV | gain | 25217958 |
| nsv1045611 | CNV | gain | 25217958 |
| esv3636609 | CNV | gain | 21293372 |
| esv3636608 | CNV | gain | 21293372 |
| esv2763103 | CNV | loss | 21179565 |
| esv2761873 | CNV | gain | 21179565 |
| esv2751536 | CNV | gain | 17911159 |
| esv2454508 | CNV | deletion | 19546169 |
| dgv4556n54 | CNV | gain | 21841781 |
| dgv2607n100 | CNV | gain | 25217958 |
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
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
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 58
- 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 58
- 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 58
- 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 44 58
- 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 22 58
Products for CGNL1 Gene
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- Invitrogen Antibodies for CGNL1
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 26 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
- Search GeneTex for Antibodies for CGNL1
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- ViGene Biosciences adenoviral particle packaged cDNA for CGNL1 gene
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- Search ViGene Biosciences for CGNL1
- Santa Cruz Biotechnology (SCBT) Antibodies for CGNL1
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- Horizon Cell Lines for CGNL1
- genomics-online: cdna clones - Search results for 89 available CGNL1 gene related products
- Overview of 89 available CGNL1 gene related products
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- Overview of 89 available CGNL1 gene related products
- genomics-online: primer clones - Search results for 89 available CGNL1 gene related products
- Overview of 89 available CGNL1 gene related products
- genomics-online: shRNA clones - Search results for 89 available CGNL1 gene related products
- Overview of 89 available CGNL1 gene related products
Sources for CGNL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
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- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
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- (128) ViGene Biosciences
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- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew