Gene Gene information from NCBI Gene database.
Entrez ID 57530
Gene name Cingulin
Gene symbol CGN
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
206
miRTarBase ID miRNA Experiments Reference
MIRT004994 hsa-miR-125b-5p Microarray 17891175
MIRT021173 hsa-miR-186-5p Sequencing 20371350
MIRT031289 hsa-miR-19b-3p Sequencing 20371350
MIRT724322 hsa-miR-6771-3p HITS-CLIP 19536157
MIRT724321 hsa-miR-4705 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0003779 Function Actin binding ISS
GO:0005515 Function Protein binding IPI 11042084, 12023291, 15161933, 15778465, 28514442, 31473225, 33961781, 35271311, 36931259
GO:0005886 Component Plasma membrane IDA
GO:0005923 Component Bicellular tight junction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609473 17429 ENSG00000143375
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2M7
Protein name Cingulin
Protein function Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01576 Myosin_tail_1 786 1149 Myosin tail Coiled-coil
Tissue specificity 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.
Sequence
MAEPRGPVDHGVQIRFITEPVSGAEMGTLRRGGRRPAKDARASTYGVAVRVQGIAGQPFV
VLNSGEKGGDSFGVQIKGANDQGASGALSSDLELPENPYSQVKGFPAPSQSSTSDEEPGA
YWNGKLLRSHSQASLAGPGPVDPSNRSNSMLELAPKVASPGSTIDTAPLSSVDSLINKFD
SQLGGQARGRTGRRTRMLPPEQRKRSKSLDSRLPRDTFEERERQSTNHWTSSTKYDNHVG
TSKQPAQSQNLSPLSGFSRSRQTQDWVLQSFEEPRRSAQDPTMLQFKSTPDLLRDQQEAA
PPGSVDHMKATIYGILREGSSESETSVRRKVSLVLEKMQPLVMVSSGSTKAVAGQGELTR
KVEELQRKLDEEVKKRQKLEPSQVGLERQLEEKTEECSRLQELLERRKGEAQQSNKELQN
MKRLLDQGEDLRHGLETQVMELQNKLKHVQGPEPAKEVLLKDLLETRELLEEVLEGKQRV
EEQLRLRERELTALKGALKEEVASRDQEVEHVRQQYQRDTEQLRRSMQDATQDHAVLEAE
RQKMSALVRGLQRELEETSEETGHWQSMFQKNKEDLRATKQELLQLRMEKEEMEEELGEK
IEVLQRELEQARASAGDTRQVEVLKKELLRTQEELKELQAERQSQEVAGRHRDRELEKQL
AVLRVEADRGRELEEQNLQLQKTLQQLRQDCEEASKAKMVAEAEATVLGQRRAAVETTLR
ETQEENDEFRRRILGLEQQLKETRGLVDGGEAVEARLRDKLQRLEAEKQQLEEALNASQE
EEGSLAAAKRALEARLEEAQRGLARLGQEQQTLNRALEEEGKQREVLRRGKAELEEQKRL
LDRTVDRLNKELEKIGEDSKQALQQLQAQLEDYKEKARREVADAQRQAKDWASEAEKTSG
GLSRLQDEIQRLRQALQASQAERDTARLDKELLAQRLQGLEQEAENKKRSQDDRARQLKG
LEEKVSRLETELDEEKNTVELLTDRVNRGRDQVDQLRTELMQERSARQDLECDKISLERQ
NKDLKTRLASSEGFQKPSASLSQLESQNQLLQERLQAEEREKTVLQSTNRKLERKVKELS
IQIEDERQHVNDQKDQLSLRVKALKRQVDEAEEEIERLDGLRKKAQREVEEQHEVNEQLQ
ARIKSLEKD
SWRKASRSAAESALKNEGLSSDEEFDSVYDPSSIASLLTESNLQTSSC
Sequence length 1197
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tight junction   TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 32371920 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 20086175 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28617990
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 2012170 Associate
★☆☆☆☆
Found in Text Mining only
Dental Caries Dental caries Pubtator 25373699 Associate
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 39796069 Associate
★☆☆☆☆
Found in Text Mining only
Diarrhea Diarrhea Pubtator 28082316 Associate
★☆☆☆☆
Found in Text Mining only
Enterocolitis Necrotizing Enterocolitis Pubtator 29276042 Inhibit
★☆☆☆☆
Found in Text Mining only
Ichthyosis Bullosa of Siemens Junctional epidermolysis bullosa Pubtator 28082316 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 24625834 Associate
★☆☆☆☆
Found in Text Mining only