• Gene id: 57530

Gene Summary

• Gene Symbol: CGN   Gene   UCSC   Ensembl
• Gene name: cingulin
• Alternate names: cingulin,
• Gene location: 1q21.3 (151510857: 151538691)     Exons: 22     NC_000001.11
• OMIM: 176911

Protein Summary

• Protein general information: Q9P2M7  
  • Name: Cingulin
  • Length: 1197  
  • Mass: 136386
  • 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:

  MAEPRGPVDHGVQIRFITEPVSGAEMGTLRRGGRRPAKDARASTYGVAVRVQGIAGQPFVVLNSGEKGGDSFGVQ
  IKGANDQGASGALSSDLELPENPYSQVKGFPAPSQSSTSDEEPGAYWNGKLLRSHSQASLAGPGPVDPSNRSNSM
  LELAPKVASPGSTIDTAPLSSVDSLINKFDSQLGGQARGRTGRRTRMLPPEQRKRSKSLDSRLPRDTFEERERQS
  TNHWTSSTKYDNHVGTSKQPAQSQNLSPLSGFSRSRQTQDWVLQSFEEPRRSAQDPTMLQFKSTPDLLRDQQEAA
  PPGSVDHMKATIYGILREGSSESETSVRRKVSLVLEKMQPLVMVSSGSTKAVAGQGELTRKVEELQRKLDEEVKK
  RQKLEPSQVGLERQLEEKTEECSRLQELLERRKGEAQQSNKELQNMKRLLDQGEDLRHGLETQVMELQNKLKHVQ
  GPEPAKEVLLKDLLETRELLEEVLEGKQRVEEQLRLRERELTALKGALKEEVASRDQEVEHVRQQYQRDTEQLRR
  SMQDATQDHAVLEAERQKMSALVRGLQRELEETSEETGHWQSMFQKNKEDLRATKQELLQLRMEKEEMEEELGEK
  IEVLQRELEQARASAGDTRQVEVLKKELLRTQEELKELQAERQSQEVAGRHRDRELEKQLAVLRVEADRGRELEE
  QNLQLQKTLQQLRQDCEEASKAKMVAEAEATVLGQRRAAVETTLRETQEENDEFRRRILGLEQQLKETRGLVDGG
  EAVEARLRDKLQRLEAEKQQLEEALNASQEEEGSLAAAKRALEARLEEAQRGLARLGQEQQTLNRALEEEGKQRE
  VLRRGKAELEEQKRLLDRTVDRLNKELEKIGEDSKQALQQLQAQLEDYKEKARREVADAQRQAKDWASEAEKTSG
  GLSRLQDEIQRLRQALQASQAERDTARLDKELLAQRLQGLEQEAENKKRSQDDRARQLKGLEEKVSRLETELDEE
  KNTVELLTDRVNRGRDQVDQLRTELMQERSARQDLECDKISLERQNKDLKTRLASSEGFQKPSASLSQLESQNQL
  LQERLQAEEREKTVLQSTNRKLERKVKELSIQIEDERQHVNDQKDQLSLRVKALKRQVDEAEEEIERLDGLRKKA
  QREVEEQHEVNEQLQARIKSLEKDSWRKASRSAAESALKNEGLSSDEEFDSVYDPSSIASLLTESNLQTSSC

• Structural information:
  • Interpro: IPR002928  
  • DIP: 30947
  • STRING: ENSP00000271636
• Other Databases: GeneCards:  CGN  Malacards:  CGN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003774	motor activity	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	NAS	cellular component
GO:0003779	actin binding	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq