Gene Gene information from NCBI Gene database.
Entrez ID 84952
Gene name Cingulin like 1
Gene symbol CGNL1
Synonyms (NCBI Gene)
JACOPPCING
Chromosome 15
Chromosome location 15q21.3
Summary 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.
1
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.
281
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607856 25931 ENSG00000128849
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
29
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CGNL1-related disorder Uncertain significance; Likely benign; Benign rs773490526, rs145255148, rs140115768, rs200180268, rs566024340, rs7182648, rs2551557011, rs1280395, rs1280396, rs1620402, rs56726484, rs746906487, rs116793730, rs145594414, rs2551662043
View all (8 more)
RCV003412082
RCV003919121
RCV003909465
RCV003981562
RCV003981567
RCV003974318
RCV003982586
RCV003984697
RCV003982537
RCV003982235
RCV003909643
RCV003944031
RCV003963884
RCV003929445
RCV003924755
RCV003944755
RCV003922246
RCV003952307
RCV003954648
RCV003979254
RCV003969015
RCV003962176
RCV003972121
Clear cell carcinoma of kidney Likely benign rs148544821 RCV005933401
Familial cancer of breast Benign rs143875419 RCV005938715
Hepatocellular carcinoma Benign rs1620402, rs143875419 RCV005937254
RCV005938716
Associations from Text MiningDisease 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