Human Gene CGN (ENST00000271636.12_5) from GENCODE V47lift37
  Description: cingulin (from RefSeq NM_020770.3)
Gencode Transcript: ENST00000271636.12_5
Gencode Gene: ENSG00000143375.15_16
Transcript (Including UTRs)
   Position: hg19 chr1:151,483,863-151,511,168 Size: 27,306 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr1:151,490,996-151,509,822 Size: 18,827 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:151,483,863-151,511,168)mRNA (may differ from genome)Protein (1203 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CING_HUMAN
DESCRIPTION: RecName: Full=Cingulin;
FUNCTION: Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.
SUBUNIT: Homodimer (By similarity). Interacts with TJP1/ZO-1.
SUBCELLULAR LOCATION: Cell junction, tight junction (By similarity). Note=Localizes to the apical junction complex composed of tight and adherens junctions (By similarity).
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.
DOMAIN: Deletion of the ZO-1 interaction motif (ZIM) decreases but does not abolish colocalization with ZO-1.
SIMILARITY: Belongs to the cingulin family.
SEQUENCE CAUTION: Sequence=AAF74498.1; Type=Erroneous initiation; Sequence=AAI52446.1; Type=Erroneous initiation; Sequence=BAA92557.1; Type=Erroneous initiation; Sequence=BAF82696.1; Type=Erroneous initiation; Sequence=CAI16590.1; Type=Erroneous initiation; Sequence=EAW53434.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.91 RPKM in Colon - Transverse
Total median expression: 307.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.00143-0.455 Picture PostScript Text
3' UTR -444.001346-0.330 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002928 - Myosin_tail

Pfam Domains:
PF01576 - Myosin tail

ModBase Predicted Comparative 3D Structure on Q9P2M7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003774 motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0045296 cadherin binding

Biological Process:
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0008150 biological_process

Cellular Component:
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0016459 myosin complex
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  KJ894434 - Synthetic construct Homo sapiens clone ccsbBroadEn_03828 CGN gene, encodes complete protein.
DQ656045 - Homo sapiens clone UGL004-A-B1, mRNA sequence.
DQ656046 - Homo sapiens clone UGL004-A-C1, mRNA sequence.
AF263462 - Homo sapiens cingulin mRNA, complete cds.
JD173344 - Sequence 154368 from Patent EP1572962.
AK290007 - Homo sapiens cDNA FLJ77968 complete cds, highly similar to Homo sapiens cingulin (CGN), mRNA.
AB037740 - Homo sapiens KIAA1319 mRNA for KIAA1319 protein.
BC152445 - Homo sapiens cingulin, mRNA (cDNA clone MGC:176694 IMAGE:8862573), complete cds.
BC146657 - Homo sapiens cingulin, mRNA (cDNA clone MGC:164854 IMAGE:40147940), complete cds.
JD450211 - Sequence 431235 from Patent EP1572962.
BC150604 - Homo sapiens cingulin, mRNA (cDNA clone MGC:183514 IMAGE:9056974), complete cds.
AB385447 - Synthetic construct DNA, clone: pF1KA1319, Homo sapiens CGN gene for cingulin, complete cds, without stop codon, in Flexi system.
AK096600 - Homo sapiens cDNA FLJ39281 fis, clone OCBBF2011067, highly similar to Homo sapiens cingulin mRNA.
BX647343 - Homo sapiens mRNA; cDNA DKFZp779N1112 (from clone DKFZp779N1112).
JD324311 - Sequence 305335 from Patent EP1572962.
JD085841 - Sequence 66865 from Patent EP1572962.
JD244580 - Sequence 225604 from Patent EP1572962.
JD297811 - Sequence 278835 from Patent EP1572962.
JD074103 - Sequence 55127 from Patent EP1572962.
JD356091 - Sequence 337115 from Patent EP1572962.
JD551870 - Sequence 532894 from Patent EP1572962.
JD533528 - Sequence 514552 from Patent EP1572962.
JD214803 - Sequence 195827 from Patent EP1572962.
JD521138 - Sequence 502162 from Patent EP1572962.
JD552811 - Sequence 533835 from Patent EP1572962.
JD113288 - Sequence 94312 from Patent EP1572962.
JD132594 - Sequence 113618 from Patent EP1572962.
JD148663 - Sequence 129687 from Patent EP1572962.
JD439694 - Sequence 420718 from Patent EP1572962.
JD227207 - Sequence 208231 from Patent EP1572962.
JD299884 - Sequence 280908 from Patent EP1572962.
JD303891 - Sequence 284915 from Patent EP1572962.
JD497450 - Sequence 478474 from Patent EP1572962.
JD379004 - Sequence 360028 from Patent EP1572962.
JD338516 - Sequence 319540 from Patent EP1572962.
JD521941 - Sequence 502965 from Patent EP1572962.
JD482269 - Sequence 463293 from Patent EP1572962.
JD297542 - Sequence 278566 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9P2M7 (Reactome details) participates in the following event(s):

R-HSA-2134506 TGFBR1 is recruited to tight junctions by PARD6A
R-NUL-2161147 TGFBR1 is recruited to tight junction by binding Pard6a
R-HSA-2134519 TGFBR2 is recruited to tight junctions after TGF-beta stimulation
R-HSA-2134532 TGFBR2 phosphorylates TGFBR1 and PARD6A
R-HSA-2160932 SMURF1 binds phosphorylated PARD6A
R-NUL-2161165 TGFBR2 phosphorylates Pard6a
R-NUL-2161160 TGFBR2 is recruited to tight junctions-associated, Pard6a-bound, TGFBR1 after TGF-beta stimulation
R-HSA-2160935 SMURF1 ubiquitinates RHOA
R-HSA-2173791 TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
R-HSA-170834 Signaling by TGF-beta Receptor Complex
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A6H8L3, A7MD22, CGN , CING_HUMAN, ENST00000271636.1, ENST00000271636.10, ENST00000271636.11, ENST00000271636.2, ENST00000271636.3, ENST00000271636.4, ENST00000271636.5, ENST00000271636.6, ENST00000271636.7, ENST00000271636.8, ENST00000271636.9, KIAA1319, NM_020770, Q5T386, Q9NR25, Q9P2M7, uc317iwk.1, uc317iwk.2
UCSC ID: ENST00000271636.12_5
RefSeq Accession: NM_020770.3
Protein: Q9P2M7 (aka CING_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.