Cgn cingulin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cgnprovided by MGI
Official Full Name: cingulinprovided by MGI
Primary source: MGI:MGI:1927237
See related: Ensembl:ENSMUSG00000068876 AllianceGenome:MGI:1927237
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 6330408J11Rik
Summary: Enables microtubule binding activity. Acts upstream of or within bicellular tight junction assembly; epithelial cell morphogenesis; and microtubule cytoskeleton organization. Located in bicellular tight junction and brush border. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; pituitary gland; and respiratory system. Orthologous to human CGN (cingulin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in large intestine adult (RPKM 14.9), colon adult (RPKM 11.8) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 40.74 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (94667376..94695036, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (94760069..94787725, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.
Title: Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.
The tight junction protein cingulin regulates the vascular response to burn injury in a mouse model.
Title: The tight junction protein cingulin regulates the vascular response to burn injury in a mouse model.
The authors found that cingulin's binding properties to actin filaments and microtubules was regulated by AMPK-dependent phosphorylation that changed its conformation and binding properties.
Title: AMPK-dependent phosphorylation of cingulin reversibly regulates its binding to actin filaments and microtubules.
Cingulin modulates barrier function in endothelium.
Title: Evidence That Cingulin Regulates Endothelial Barrier Function In Vitro and In Vivo.
the regulated cingulin-microtubule association has a specific role in tight junction-related epithelial morphogenesis that is sensitive to metabolic homeostasis-related AMPK activity.
Title: The association of microtubules with tight junctions is promoted by cingulin phosphorylation by AMPK.
cingulin is dispensable for the structure and barrier function of tight junctions, and is embedded in signaling networks that control the expression of claudin-2.
Title: Cingulin is dispensable for epithelial barrier function and tight junction structure, and plays a role in the control of claudin-2 expression and response to duodenal mucosa injury.
Data show by immunofluorescence labeling that the cytoskeletal-associated protein cingulin, commonly found at tight junctions, is also localized at neuronal gap junctions throughout the central nervous system.
Title: Under construction: building the macromolecular superstructure and signaling components of an electrical synapse.
cingulin does not have a critical role in tight-junction formation, but gene expression and tight junction protein levels are altered by the cingulin mutation
Title: Disruption of the cingulin gene does not prevent tight junction formation but alters gene expression.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3Umi5 (e-PCR), detects polymorphism
- UniSTS:280401

AI647528 (e-PCR)
- UniSTS:178875

AI987749 (e-PCR)
- UniSTS:178876

NoName (e-PCR)
- UniSTS:234749

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical junction complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	ISO Inferred from Sequence Orthology more info
located_in bicellular tight junction	NAS Non-traceable Author Statement more info	PubMed
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	ISO Inferred from Sequence Orthology more info
part_of myosin complex	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cingulin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001037711.3 → NP_001032800.3 cingulin isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform.

Source sequence(s)

AC087903

Consensus CDS

CCDS50984.2

UniProtKB/Swiss-Prot

P59242, Q05BC4, Q69ZM0, Q6P2K0

UniProtKB/TrEMBL

E9QMC1

Related

ENSMUSP00000102894.3, ENSMUST00000107273.9

Conserved Domains (1) summary

pfam01576
Location:356 → 1140

Myosin_tail_1; Myosin tail
NM_001293727.2 → NP_001280656.2 cingulin isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC087903

Consensus CDS

CCDS79976.2

UniProtKB/Swiss-Prot

P59242, Q05BC4, Q69ZM0, Q6P2K0

UniProtKB/TrEMBL

D3YUW7

Related

ENSMUSP00000102893.3, ENSMUST00000107272.7

Conserved Domains (1) summary

pfam01576
Location:348 → 1132

Myosin_tail_1; Myosin tail

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

94667376..94695036 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252817.1 → XP_030108677.1 cingulin isoform X2

UniProtKB/Swiss-Prot

P59242, Q05BC4, Q69ZM0, Q6P2K0

Conserved Domains (1) summary

pfam01576
Location:349 → 1133

Myosin_tail_1; Myosin tail
XM_006502061.2 → XP_006502124.1 cingulin isoform X1

See identical proteins and their annotated locations for XP_006502124.1

UniProtKB/Swiss-Prot

P59242, Q05BC4, Q69ZM0, Q6P2K0

UniProtKB/TrEMBL

A0A5F8MPT6

Conserved Domains (1) summary

pfam01576
Location:357 → 1141

Myosin_tail_1; Myosin tail
XM_006502062.5 → XP_006502125.1 cingulin isoform X1

See identical proteins and their annotated locations for XP_006502125.1

UniProtKB/Swiss-Prot

P59242, Q05BC4, Q69ZM0, Q6P2K0

UniProtKB/TrEMBL

A0A5F8MPT6

Conserved Domains (1) summary

pfam01576
Location:357 → 1141

Myosin_tail_1; Myosin tail
XM_006502064.1 → XP_006502127.1 cingulin isoform X3

UniProtKB/TrEMBL

Q32NZ7

Conserved Domains (1) summary

COG1196
Location:345 → 645

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]