Aliases for CGN Gene

Aliases for CGN Gene

  • Cingulin 2 3 4 5
  • KIAA1319 2 4
  • CGN 5

External Ids for CGN Gene

Previous GeneCards Identifiers for CGN Gene

  • GC01P149325
  • GC01P147231
  • GC01P148258
  • GC01P148700
  • GC01P148296
  • GC01P149750
  • GC01P122861

Summaries for CGN Gene

GeneCards Summary for CGN Gene

CGN (Cingulin) is a Protein Coding gene. Diseases associated with CGN include Acute Proliferative Glomerulonephritis. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include actin binding and motor activity. An important paralog of this gene is CGNL1.

UniProtKB/Swiss-Prot Summary for CGN Gene

  • Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.

Gene Wiki entry for CGN Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CGN Gene

Genomics for CGN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CGN 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 CGN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CGN

Top Transcription factor binding sites by QIAGEN in the CGN gene promoter:
  • c-Myb
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • HNF-4alpha1
  • HNF-4alpha2
  • IRF-1

Genomic Locations for CGN Gene

Genomic Locations for CGN Gene
chr1:151,510,510-151,538,692
(GRCh38/hg38)
Size:
28,183 bases
Orientation:
Plus strand
chr1:151,482,986-151,511,168
(GRCh37/hg19)
Size:
28,183 bases
Orientation:
Plus strand

Genomic View for CGN Gene

Genes around CGN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CGN Gene

Proteins for CGN Gene

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

    Protein Symbol:
    Q9P2M7-CING_HUMAN
    Recommended name:
    Cingulin
    Protein Accession:
    Q9P2M7
    Secondary Accessions:
    • A6H8L3
    • A7MD22
    • Q5T386
    • Q9NR25

    Protein attributes for CGN Gene

    Size:
    1197 amino acids
    Molecular mass:
    136386 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with TJP1/ZO-1.
    SequenceCaution:
    • Sequence=AAF74498.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI52446.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92557.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAF82696.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW53434.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be due to an intron retention.

    Alternative splice isoforms for CGN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CGN Gene

Post-translational modifications for CGN Gene

  • Ubiquitination at Lys461, Lys580, and Lys658
  • Modification sites at PhosphoSitePlus

Other Protein References for CGN Gene

No data available for DME Specific Peptides for CGN Gene

Domains & Families for CGN Gene

Gene Families for CGN Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CGN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CGN Gene

GenScript: Design optimal peptide antigens:
  • Cingulin (B7ZBT6_HUMAN)
  • Cingulin (B9EK46_HUMAN)
  • Cingulin (CING_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P2M7

UniProtKB/Swiss-Prot:

CING_HUMAN :
  • Deletion of the ZO-1 interaction motif (ZIM) decreases but does not abolish colocalization with ZO-1.
  • Belongs to the cingulin family.
Domain:
  • Deletion of the ZO-1 interaction motif (ZIM) decreases but does not abolish colocalization with ZO-1.
Family:
  • Belongs to the cingulin family.
genes like me logo Genes that share domains with CGN: view

Function for CGN Gene

Molecular function for CGN Gene

UniProtKB/Swiss-Prot Function:
Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.

Phenotypes From GWAS Catalog for CGN Gene

Gene Ontology (GO) - Molecular Function for CGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003779 actin binding ISS --
GO:0005515 protein binding IPI 11042084
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with CGN: view
genes like me logo Genes that share phenotypes with CGN: view

Animal Models for CGN Gene

MGI Knock Outs for CGN:
  • Cgn Cgn<tm1b(KOMP)Wtsi>
  • Cgn Cgn<tm1.1Citi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CGN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CGN Gene

Localization for CGN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CGN Gene

Cell junction, tight junction. Note=Localizes to the apical junction complex composed of tight and adherens junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
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 CGN gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 4
cytoskeleton 3
extracellular 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0005923 bicellular tight junction IDA,NAS 12529927
GO:0016459 myosin complex IEA --
GO:0030054 cell junction IDA,TAS --
genes like me logo Genes that share ontologies with CGN: view

Pathways & Interactions for CGN Gene

genes like me logo Genes that share pathways with CGN: view

Pathways by source for CGN Gene

1 KEGG pathway for CGN Gene
3 GeneGo (Thomson Reuters) pathways for CGN Gene
  • Cell adhesion Gap junctions
  • Cell adhesion Tight junctions
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms

Gene Ontology (GO) - Biological Process for CGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007179 transforming growth factor beta receptor signaling pathway TAS --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CGN: view

No data available for SIGNOR curated interactions for CGN Gene

Drugs & Compounds for CGN Gene

(3) Drugs for CGN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CGN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CGN: view

Transcripts for CGN Gene

mRNA/cDNA for CGN Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CGN

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

No ASD Table

Relevant External Links for CGN Gene

GeneLoc Exon Structure for
CGN

Expression for CGN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Colon - Transverse (x6.4) and Liver (x5.4).

Protein differential expression in normal tissues from HIPED for CGN Gene

This gene is overexpressed in Cervix (23.5), Ovary (9.7), and Islet of Langerhans (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CGN Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CGN

SOURCE GeneReport for Unigene cluster for CGN Gene:

Hs.591464

mRNA Expression by UniProt/SwissProt for CGN Gene:

Q9P2M7-CING_HUMAN
Tissue specificity: Localized on the cytoplasmic face of tight junctions of polarized epithelia and some endothelia. Expressed in pancreas, kidney, liver and lung, but not in skeletal muscle, placenta, brain or heart.

Evidence on tissue expression from TISSUES for CGN Gene

  • Liver(4.6)
  • Blood(4.4)
  • Nervous system(4.4)
  • Intestine(3)
  • Kidney(2.8)
  • Lung(2.5)
  • Heart(2.5)
  • Skin(2.4)
  • Stomach(2.3)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with CGN: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CGN Gene

Orthologs for CGN Gene

This gene was present in the common ancestor of chordates.

Orthologs for CGN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CGN 30 31
  • 99.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CGN 30 31
  • 88.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CGN 30 31
  • 87.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cgn 30
  • 85.83 (n)
Mouse
(Mus musculus)
Mammalia Cgn 30 17 31
  • 85.7 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CGN 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CGN 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CGN 30 31
  • 63.29 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cgn 30
  • 62.19 (n)
Zebrafish
(Danio rerio)
Actinopterygii cgnb 30 31
  • 49.89 (n)
OneToMany
cgna 31
  • 34 (a)
OneToMany
Species where no ortholog for CGN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • 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 CGN Gene

ENSEMBL:
Gene Tree for CGN (if available)
TreeFam:
Gene Tree for CGN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CGN: view image

Paralogs for CGN Gene

(4) SIMAP similar genes for CGN Gene using alignment to 5 proteins:

  • CING_HUMAN
  • A2A3M4_HUMAN
  • A6PVU7_HUMAN
  • B9EK46_HUMAN
  • H0Y4A8_HUMAN
genes like me logo Genes that share paralogs with CGN: view

Variants for CGN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CGN Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
711289 Benign: not provided 151,518,699(+) C/T SYNONYMOUS_VARIANT
715850 Benign: not provided 151,520,622(+) C/T SYNONYMOUS_VARIANT
730505 Likely Benign: not provided 151,518,550(+) C/T MISSENSE_VARIANT
737275 Likely Benign: not provided 151,519,198(+) C/T MISSENSE_VARIANT
739893 Likely Benign: not provided 151,530,562(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CGN Gene

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

Variant ID Type Subtype PubMed ID
nsv997511 CNV gain 25217958

Variation tolerance for CGN Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.69; 86.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CGN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CGN

SNP Genotyping and Copy Number Assay Products

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

Disorders for CGN Gene

MalaCards: The human disease database

(1) MalaCards diseases for CGN Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute proliferative glomerulonephritis
  • acute glomerulonephritis with lesion of proliferative glomerulonephritis
- elite association - COSMIC cancer census association via MalaCards
Search CGN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CGN

genes like me logo Genes that share disorders with CGN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CGN Gene

Publications for CGN Gene

  1. Human and Xenopus cingulin share a modular organization of the coiled-coil rod domain: predictions for intra- and intermolecular assembly. (PMID: 11042084) Citi S … Parry DA (Journal of structural biology 2000) 2 3 4 23
  2. Evidence for a functional interaction between cingulin and ZO-1 in cultured cells. (PMID: 12023291) D'Atri F … Citi S (The Journal of biological chemistry 2002) 3 4 23
  3. Tight junctions of the blood-brain barrier: development, composition and regulation. (PMID: 12529927) Wolburg H … Lippoldt A (Vascular pharmacology 2002) 2 3 23
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Binding of GEF-H1 to the tight junction-associated adaptor cingulin results in inhibition of Rho signaling and G1/S phase transition. (PMID: 15866167) Aijaz S … Matter K (Developmental cell 2005) 3 23

Products for CGN Gene

Sources for CGN Gene