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Aliases for CGNL1 Gene

Aliases for CGNL1 Gene

  • Cingulin Like 1 2 3 5
  • Junction-Associated Coiled-Coil Protein 2 3 4
  • Paracingulin 2 3 4
  • JACOP 3 4
  • Cingulin-Like Protein 1 3
  • KIAA1749 4
  • PCING 3

External Ids for CGNL1 Gene

Previous GeneCards Identifiers for CGNL1 Gene

  • GC15P055456
  • GC15P057668
  • GC15P034553

Summaries for CGNL1 Gene

Entrez Gene Summary 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. 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

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

Regulatory Elements for CGNL1 Gene

Enhancers for CGNL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H057504 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.1 +130.1 130082 4.1 ELF3 CTCF PKNOX1 FOXA2 SAP130 SIN3A MAX RAD21 TEAD3 CTBP1 CGNL1 RNU6-844P GC15P057504 ENSG00000261265
GH15H057474 1.2 Ensembl ENCODE 15.5 +101.4 101361 4.8 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 SLC30A9 ZHX2 REST PPARG CGNL1 RNU6-844P ENSG00000261489 GC15P057471
GH15H057560 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +185.5 185473 2.5 FOXA2 BATF ZNF2 RAD21 RFX5 ZNF143 ATF7 RCOR1 ETV6 IKZF2 GCOM1 POLR2M CGNL1 MYZAP RPS13P7 GC15P057580
GH15H057485 1 Ensembl ENCODE 17 +110.1 110138 1.7 ELF3 TFAP4 PKNOX1 SAP130 JUN RAD21 THRB RARA TEAD3 FOSL1 CGNL1 RNU6-844P GCOM1 POLR2M ENSG00000261489 GC15P057500 GC15P057501 GC15P057503 GC15P057502 PIR54453
GH15H057510 1 Ensembl ENCODE dbSUPER 16 +134.5 134540 1.8 E2F1 TFAP4 TAL1 CGNL1 RNU6-844P GC15P057504 ENSG00000261265
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CGNL1 on UCSC Golden Path with GeneCards custom track

Promoters for CGNL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000077054 733 1001 FOXA2 ARID4B RAD21 YY1 GLIS2 ZNF202 SP3 CEBPB REST ZNF398

Genomic Locations for CGNL1 Gene

Genomic Locations for CGNL1 Gene
174,761 bases
Plus strand

Genomic View for CGNL1 Gene

Genes around CGNL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CGNL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CGNL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CGNL1 Gene

Proteins for CGNL1 Gene

  • Protein details for CGNL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cingulin-like protein 1
    Protein Accession:
    Secondary Accessions:
    • Q05BZ4
    • Q52LR0
    • Q695C7
    • Q7Z2L3
    • Q96JV2
    • Q96MN6
    • Q9C0B4

    Protein attributes for CGNL1 Gene

    1302 amino acids
    Molecular mass:
    149079 Da
    Quaternary structure:
    • Homodimer or oligomer.
    • Sequence=AAH30995.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for CGNL1 Gene


neXtProt entry for CGNL1 Gene

Post-translational modifications for CGNL1 Gene

  • Ubiquitination at posLast=525525 and posLast=681681
  • Modification sites at PhosphoSitePlus

Other Protein References for CGNL1 Gene

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


Suggested Antigen Peptide Sequences for CGNL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The head region is responsible for junction-based distribution.
  • Belongs to the cingulin family.
  • The head region is responsible for junction-based distribution.
  • Belongs to the cingulin family.
genes like me logo Genes that share domains with CGNL1: view

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

Gene Ontology (GO) - Molecular Function for CGNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0005515 protein binding IPI 22891260
genes like me logo Genes that share ontologies with CGNL1: view
genes like me logo Genes that share phenotypes with CGNL1: view

Animal Model Products

Clone Products

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. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CGNL1 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
cytosol 3
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CGNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005923 bicellular tight junction IEA --
GO:0016459 myosin complex IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CGNL1: view

Pathways & Interactions for CGNL1 Gene

SuperPathways for CGNL1 Gene

SuperPathway Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with CGNL1: view

Pathways by source for CGNL1 Gene

1 KEGG pathway for CGNL1 Gene

Interacting Proteins for CGNL1 Gene

Selected Interacting proteins: Q0VF96-CGNL1_HUMAN for CGNL1 Gene via IID

Gene Ontology (GO) - Biological Process 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
genes like me logo Genes that share ontologies with CGNL1: view

No data available for SIGNOR curated interactions for CGNL1 Gene

Drugs & Compounds for CGNL1 Gene

No Compound Related Data Available

Transcripts for CGNL1 Gene

Unigene Clusters for CGNL1 Gene

Cingulin-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CGNL1 Gene

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 ^
SP3: - - -
SP4: - - -
SP7: - - - -

ExUns: 23 ^ 24

Relevant External Links for CGNL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CGNL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CGNL1 Gene

mRNA differential expression in normal tissues according to GTEx for CGNL1 Gene

This gene is overexpressed in Kidney - Cortex (x5.2).

Protein differential expression in normal tissues from HIPED for CGNL1 Gene

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:


SOURCE GeneReport for Unigene cluster for CGNL1 Gene:


mRNA Expression by UniProt/SwissProt for CGNL1 Gene:

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)
genes like me logo Genes that share expression patterns with CGNL1: view

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.

Orthologs for CGNL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CGNL1 33 34
  • 99.41 (n)
(Canis familiaris)
Mammalia CGNL1 33 34
  • 86.12 (n)
(Bos Taurus)
Mammalia CGNL1 33 34
  • 85.29 (n)
(Mus musculus)
Mammalia Cgnl1 33 16 34
  • 82 (n)
(Rattus norvegicus)
Mammalia Cgnl1 33
  • 81.41 (n)
(Monodelphis domestica)
Mammalia CGNL1 34
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 60 (a)
-- 34
  • 53 (a)
(Gallus gallus)
Aves CGNL1 33 34
  • 66.38 (n)
(Anolis carolinensis)
Reptilia CGNL1 34
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cgnl1 33
  • 65.75 (n)
Str.15211 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7082 33
(Danio rerio)
Actinopterygii cgnl1 33 34
  • 58.26 (n)
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)

Evolution for CGNL1 Gene

Gene Tree for CGNL1 (if available)
Gene Tree for CGNL1 (if available)

Paralogs for CGNL1 Gene

Paralogs for CGNL1 Gene

(1) SIMAP similar genes for CGNL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CGNL1: view

Variants for CGNL1 Gene

Sequence variations from dbSNP and Humsavar for CGNL1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs483352760 other 57,461,811(+) AGCCA(C/T)GATCA reference, synonymous-codon
rs1000007593 -- 57,435,287(+) TGAGA(A/G)ACTTG intron-variant
rs1000011608 -- 57,402,074(+) GGCTT(G/T)GATGT intron-variant, upstream-variant-2KB
rs1000036848 -- 57,435,079(+) CAGAT(A/G)TAATG intron-variant
rs1000053863 -- 57,517,940(+) TGGGG(A/G/T)TCCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CGNL1 Gene

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

Variation tolerance for CGNL1 Gene

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)

Relevant External Links for CGNL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CGNL1 Gene

Disorders for CGNL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CGNL1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
aromatase excess syndrome
  • aexs
estrogen excess
  • hyperestrogenism
- elite association - COSMIC cancer census association via MalaCards
Search CGNL1 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for CGNL1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CGNL1: view

No data available for Genatlas for CGNL1 Gene

Publications for CGNL1 Gene

  1. 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 60
  2. 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 60
  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 45 60
  4. 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 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for CGNL1 Gene

Sources for CGNL1 Gene

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