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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 Development Slit-Robo signaling and Sertoli-Sertoli Cell Junction Dynamics. 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

Additional gene information 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
GH01H151508 2 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +2.6 2609 8.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZBTB7B YY1 FOS SP3 ARNT SETDB1 PIP5K1A PI4KB CGN PRUNE1 GOLPH3L UBE2D3P3 C1orf56 CTSK
GH01H151537 1.4 ENCODE dbSUPER 15.8 +29.7 29697 7.3 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 ZNF766 ZNF143 CGN SNX27 SCNM1 PI4KB HRNR CELF3 ENSG00000227045 RIIAD1 ENSG00000232937 MRPL9
GH01H151835 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +327.6 327610 6 HDGF PKNOX1 ARID4B SIN3A BRCA1 ZNF2 ZBTB7B ETS1 ELK1 ZNF207 SETDB1 PIP5K1A ARNT POGZ PI4KB GABPB2 MRPL9 PRUNE1 C1orf56 LYSMD1
GH01H151971 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +462.4 462446 2.8 PKNOX1 ATF1 FEZF1 ZNF2 GLIS2 FOS TSHZ1 MAFF ZNF610 SMARCA4 ENSG00000229021 THEM4 S100A10 SCNM1 S100A11 PI4KB THEM5 ENSG00000252840 CGN LINGO4
GH01H151472 1.4 FANTOM5 Ensembl ENCODE 11.6 -37.3 -37251 1.5 LEF1 ATF1 GTF2E2 RAD21 ZBTB7B ZNF121 E2F1 MTA3 ELK1 EGR1 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 YY1 GLIS2 ELK1 RUNX3 SP3 SP5 YY2

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)

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

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:

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.

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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

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:

Clone 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 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

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 33 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia CGN 33 34
  • 88.92 (n)
dog
(Canis familiaris)
Mammalia CGN 33 34
  • 87.51 (n)
rat
(Rattus norvegicus)
Mammalia Cgn 33
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Cgn 33 16 34
  • 85.7 (n)
oppossum
(Monodelphis domestica)
Mammalia CGN 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CGN 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves CGN 33 34
  • 63.29 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cgn 33
  • 62.19 (n)
zebrafish
(Danio rerio)
Actinopterygii cgnb 33 34
  • 49.89 (n)
cgna 34
  • 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 DA (Journal of structural biology 2000) 2 3 4 22 60
  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 22 60
  3. Tight junctions of the blood-brain barrier: development, composition and regulation. (PMID: 12529927) Wolburg H … Lippoldt A (Vascular pharmacology 2002) 2 3 22 60
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  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 22 60

Products for CGN Gene

Sources for CGN Gene

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