Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84952
Gene name Gene Name - the full gene name approved by the HGNC.
Cingulin like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CGNL1
Synonyms (NCBI Gene) Gene synonyms aliases
JACOP, PCING
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chro
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs483352760 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018735 hsa-miR-335-5p Microarray 18185580
MIRT024620 hsa-miR-215-5p Microarray 19074876
MIRT026805 hsa-miR-192-5p Microarray 19074876
MIRT045751 hsa-miR-125a-5p CLASH 23622248
MIRT038313 hsa-miR-130b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20936779, 22891260, 25753039, 28514442, 33961781, 36931259
GO:0005923 Component Bicellular tight junction IBA
GO:0005923 Component Bicellular tight junction IEA
GO:0007015 Process Actin filament organization IMP 22891260
GO:0015629 Component Actin cytoskeleton IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607856 25931 ENSG00000128849
Protein
UniProt ID Q0VF96
Protein name Cingulin-like protein 1 (Junction-associated coiled-coil protein) (Paracingulin)
Protein function May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01576 Myosin_tail_1 576 1042 Myosin tail Coiled-coil
PF01576 Myosin_tail_1 1015 1257 Myosin tail Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Smooth muscle, spleen, testis, fetal brain, amygdala, corpus callosum, cerebellum, thalamus and subthalamic nucleus of adult brain. {ECO:0000269|PubMed:11214970}.
Sequence
MELYFGEYQHVQQEYGVHLRLASDDTQKSRSSQNSKAGSYGVSIRVQGIDGHPYIVLNNT
ERCLAGTSFSENGPPFPPPVINNLPLHSSNGSVPKENSEELQLPENPYAQPSPIRNLKQP
LLHEGKNGVLDRKDGSVKPSHLLNFQRHPELLQPYDPEKNELNLQNHQPSESNWLKTLTE
EGINNKKPWTCFPKPSNSQPTSPSLEDPAKSGVTAIRLCSSVVIEDPKKQTSVCVNVQSC
TKERVGEEALFTSGRPLTAHSPHAHPETKKTRPDVLPFRRQDSAGPVLDGARSRRSSSSS
TTPTSANSLYRFLLDDQECAIHADNVNRHENRRYIPFLPGTGRDIDTGSIPGVDQLIEKF
DQKPGLQRRGRSGKRNRINTDDRKRSRSVDSAFPFGLQGNSEYLIEFSRNLGKSSEHLLR
PSQVCPQRPLSQERRGKQSVGRTFAKLQGAAHGASCAHSRPPQPNIDGKVLETEGSQEST
VIRAPSLGAQSKKEEEVKTATATLMLQNRATATSPDSGAKKISVKTFPSASNTQATPDLL
KGQQELTQQTNEETAKQILYNYLKEGSTDNDDATKRKVNLVFEKIQTLKSRAAGSAQGNN
QACNSTSEVKDLLEQKSKLTIEVAELQRQLQLEVKNQQNIKEERERMRANLEELRSQHNE
KVEENSTLQQRLEESEGELRKNLEELFQVKMEREQHQTEIRDLQDQLSEMHDELDSAKRS
EDREKGALIEELLQAKQDLQDLLIAKEEQEDLLRKRERELTALKGALKEEVSSHDQEMDK
LKEQYDAELQALRESVEEATKNVEVLASRSNTSEQDQAGTEMRVKLLQEENEKLQGRSEE
LERRVAQLQRQIEDLKGDEAKAKETLKKYEGEIRQLEEALVHARKEEKEAVSARRALENE
LEAAQGNLSQTTQEQKQLSEKLKEESEQKEQLRRLKNEMENERWHLGKTIEKLQKEMADI
VEASRTSTLELQNQLDEYKEKNRRELAEMQRQLKEKTLEAEKSRLTAMKMQDEM
RLMEEE
LRDYQRAQDEALTKRQLLEQTL
KDLEYELEAKSHLKDDRSRLVKQMEDKVSQLEMELEEE
RNNSDLLSERISRSREQMEQLRNELLQERAARQDLECDKISLERQNKDLKSRIIHLEGSY
RSSKEGLVVQMEARIAELEDRLESEERDRANLQLSNRRLERKVKELVMQVDDEHLSLTDQ
KDQLSLRLKAMKRQVEEAEEEIDRLESSKKKLQRELEEQMDMNEHLQGQLNSMKKDL
RLK
KLPSKVLDDMDDDDDLSTDGGSLYEAPVSYTFSKDSTVASQI
Sequence length 1302
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Tight junction  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Burkitt Lymphoma Associate 26325594
Mouth Neoplasms Associate 36626444
Osteoporosis Associate 38484114
Osteosarcoma Associate 37980450
Pancreatic Neoplasms Associate 38297362
Psoriasis Associate 39344312
Spinal Dysraphism Associate 38484114
Squamous Cell Carcinoma of Head and Neck Associate 34201353