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Gap junction gamma-2 protein

Summary

UniProt ID: Q5T442
Gene Symbol: GJC2 GJA12
Gene ID: 57165
Organism: Homo sapiens (human)

External Links

GlyGen: Q5T442
The O-GlcNAc Database: Q5T442
O-GlcNAcAtlas: Q5T442
Re-Glyco: Q5T442

Annotation

Keyword: Cell membrane Disease variant Gap junction Hereditary spastic paraplegia Leukodystrophy Phosphoprotein Proteomics identification Reference proteome Transmembrane helix

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	Reference
cell-cell signaling	IBA	GO_REF
response to toxic substance
cell communication by electrical coupling	IMP	PMID

GO Hierarchy

biological process

cellular process [inference]

cell communication [inference]

response to stimulus [inference]

response to chemical [inference]

response to toxic substance

biological regulation [inference]

regulation of biological process [inference]

signaling [inference]

cell-cell signaling

Displaying **all 5** entries
GO Term	Evidence Code	Reference
gap junction	IMP	PMID
gap junction	IEA	GO_REF GO_REF
connexin complex	IBA	GO_REF
connexin complex	IEA	GO_REF
myelin sheath	IEA	GO_REF

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

plasma membrane protein complex [inference]

connexin complex

cellular anatomical structure [inference]

cell junction [inference]

anchoring junction [inference]

cell-cell junction [inference]

gap junction

myelin sheath

Displaying **all 3** entries
GO Term	Evidence Code	Reference
gap junction channel activity	IBA	GO_REF
gap junction channel activity	IEA	GO_REF
gap junction channel activity involved in cell communication by electrical coupling	IMP	PMID

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

passive transmembrane transporter activity [inference]

channel activity [inference]

wide pore channel activity [inference]

gap junction channel activity

gap junction channel activity involved in cell communication by electrical coupling

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVRPFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 3** entries
Position	PubMed ID	GlyTouCan ID	Source
10	30620550	G49108TO	GlyGen The O-GlcNAc Database
191			GlyGen
195			GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying 1 entry
Pathway Name	Organism
Gap junction assembly	Homo sapiens

Disease

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0060787	hypomyelinating leukodystrophy 2	Alliance of Genome Resources
DOID:4977	lymphedema	Alliance of Genome Resources
DOID:0110796	hereditary spastic paraplegia 44	Alliance of Genome Resources
DOID:0070208	hereditary lymphedema IC	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

International Collaboration

Acknowledgements