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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 Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Tight junction. 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 , 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
GH01F151508 0.9 FANTOM5 Ensembl ENCODE 15.9 +2.6 2609 8.9 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 CBX5 FOS SP3 SP5 CGN C1orf56 SCNM1 SETDB1 FLG TUFT1 C2CD4D RORC SELENBP1 ENSG00000252840
GH01F151537 1 Ensembl ENCODE 15.8 +29.7 29697 7.3 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF143 CGN SNX27 SCNM1 HRNR SETDB1 CELF3 ENSG00000227045 RIIAD1 MRPL9 OAZ3
GH01F151479 0.7 ENCODE 11.6 -30.9 -30857 1.0 CGN ENSG00000252840 TUFT1 MIR554 RPS10P6 RNU6-1062P PSMB4 ENSG00000232536 MRPL9 OAZ3
GH01F151472 1.6 FANTOM5 Ensembl ENCODE 11.6 -37.3 -37251 1.5 CBX3 ATF1 GTF2E2 ZNF384 RAD21 ZNF121 E2F1 ZNF316 ELK1 EGR1 SELENBP1 CGN ENSG00000252840 ENSG00000232536 TUFT1 CELF3 LINGO4 THEM5 OAZ3 C1orf56
GH01F151578 0.6 ENCODE 11.3 +68.8 68826 1.7 ZNF263 ZNF362 KLF1 JUN OSR2 JUND GATA3 FOSL2 FOS TUFT1 RPS10P6 MIR554 ENSG00000252840 CGN ENSG00000232536 ENSG00000250734 SNX27 RNU6-1062P CELF3
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000671115 790 2201 ARID4B SIN3A ZNF48 ZNF2 YY1 GLIS2 SP3 YY2 SP5 NFYC

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 Lys 461, Lys 580, and Lys 658
  • 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:0098641 cadherin binding involved in cell-cell adhesion 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

Flow Cytometry Products

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
Jensen Localization Image for CGN Gene COMPARTMENTS Subcellular localization image for CGN gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 3
golgi apparatus 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for CGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0005923 bicellular tight junction NAS,IDA 12529927
GO:0016459 myosin complex IEA --
GO:0030054 cell junction 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 --
GO:0098609 cell-cell adhesion IEA --
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

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with CGN: view

Primer Products

No data available for Protein tissue co-expression partners 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
rs1045298 -- 151,538,349(+) GGACC(C/T)TCATT upstream-variant-2KB, utr-variant-3-prime
rs10570307 -- 151,526,182(+) TCTCC(-/T)TTTTT intron-variant
rs10749664 -- 151,525,370(+) CTTCA(C/G)CCTGG intron-variant
rs10788808 -- 151,509,983(+) AAAAA(C/T)AAGAA upstream-variant-2KB
rs10888418 -- 151,510,072(+) GTCCC(C/T)ACCCC 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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