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Aliases for CGN Gene

Aliases for CGN Gene

  • Cingulin 2 3 3 5
  • KIAA1319 4

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. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. GO annotations related to this gene include actin binding and motor activity. An important paralog of this gene is CGNL1.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for CGN Gene

Genomics for CGN Gene

Regulatory Elements for CGN Gene

Enhancers for CGN 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
GH01G151508 2 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +2.6 2609 8.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZBTB7B YY1 CBX5 FOS CGN FLG C1orf56 TUFT1 C2CD4D RORC SELENBP1 ENSG00000252840
GH01G151537 1.4 ENCODE dbSUPER 15.8 +29.7 29697 7.3 MLX FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 ZNF610 GLIS1 CGN SNX27 HRNR CELF3 ENSG00000227045 RIIAD1 MRPL9 OAZ3 ENSG00000232937 RNU6-1062P
GH01G151835 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +327.6 327610 6.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A ZNF2 ZBTB7B ZNF143 ZNF207 FOS LYSMD1 GABPB2 TDRKH-AS1 TDRKH ENSG00000252840 CGN MRPL9 ENSG00000232937 OAZ3 C2CD4D
GH01G151971 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +462.4 462446 2.8 PKNOX1 FEZF1 ZNF2 ZBTB7B FOS DEK ZNF263 SP3 JUNB ZNF610 ENSG00000229021 THEM4 S100A10 VPS72 MRPL9 LYSMD1 S100A11 GABPB2 THEM5 ENSG00000252840
GH01G151472 1.4 FANTOM5 Ensembl ENCODE 11.6 -37.3 -37251 1.5 CBX3 ATF1 CREB3L1 RAD21 ZBTB7B ZNF121 ELK1 EGR1 CREM NCOA1 SELENBP1 CGN ENSG00000252840 TUFT1 ENSG00000232536 CELF3 LINGO4 THEM5 OAZ3 C1orf56
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CGN on UCSC Golden Path with GeneCards custom track

Promoters for CGN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000013627 890 1201 ARID4B SIN3A ZNF2 ZNF48 YY1 GLIS2 ELK1 SP3 SP5 YY2

Genomic Location for CGN Gene

Chromosome:
1
Start:
151,510,510 bp from pter
End:
151,538,692 bp from pter
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=CAI16590.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW53434.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CGN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CGN Gene

Post-translational modifications for CGN Gene

  • Ubiquitination at posLast=461461, 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

Protein Domains for CGN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CGN Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for CGN Gene

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.

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 IDA 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 tm1b(KOMP)Wtsi
  • Cgn tm1.1Citi

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
cytoskeleton 3
cytosol 3
golgi apparatus 2

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 NAS,IDA 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

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

Unigene Clusters for CGN Gene

Cingulin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
CGN

Expression for CGN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CGN Gene



NURSA nuclear receptor signaling pathways regulating expression of CGN Gene:

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(4.5)
  • Blood(4.2)
  • Nervous system(4.1)
  • Kidney(2.6)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with CGN: view

Primer Products

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 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia CGN 34 35
  • 88.92 (n)
dog
(Canis familiaris)
Mammalia CGN 34 35
  • 87.51 (n)
rat
(Rattus norvegicus)
Mammalia Cgn 34
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Cgn 34 16 35
  • 85.7 (n)
oppossum
(Monodelphis domestica)
Mammalia CGN 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CGN 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves CGN 34 35
  • 63.29 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cgn 34
  • 62.19 (n)
zebrafish
(Danio rerio)
Actinopterygii cgnb 34 35
  • 49.89 (n)
cgna 35
  • 34 (a)
OneToMany
Species where no ortholog for CGN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 CGN Gene

ENSEMBL:
Gene Tree for CGN (if available)
TreeFam:
Gene Tree for CGN (if available)

Paralogs for CGN Gene

Paralogs for CGN Gene

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

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

Variants for CGN Gene

Sequence variations from dbSNP and Humsavar for CGN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000081141 -- 151,531,089(+) TGAGG(C/T)GAGAT intron-variant
rs1000092828 -- 151,512,989(+) GTGTG(A/G)GATCA intron-variant
rs1000264401 -- 151,516,891(+) TGCGT(A/G)GCTCA intron-variant
rs1000361976 -- 151,509,998(+) TTTTT(-/A)AAAAA upstream-variant-2KB
rs1000396748 -- 151,509,884(+) GTCTT(-/A)AAAAA upstream-variant-2KB

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)

Relevant External Links for CGN Gene

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

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

Disorders for CGN Gene

Relevant External Links for CGN

Genetic Association Database (GAD)
CGN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CGN

No disorders were found for CGN Gene.

No data available for MalaCards , 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 D.A.D. (J. Struct. Biol. 2000) 2 3 4 22 64
  2. Tight junctions of the blood-brain barrier: development, composition and regulation. (PMID: 12529927) Wolburg H. … Lippoldt A. (Vascul. Pharmacol. 2002) 2 3 22 64
  3. Evidence for a functional interaction between cingulin and ZO-1 in cultured cells. (PMID: 12023291) D'Atri F. … Citi S. (J. Biol. Chem. 2002) 3 4 22 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  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. (Dev. Cell 2005) 3 22 64

Products for CGN Gene

Sources for CGN Gene

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