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Protein

Gap junction gamma-2 protein

Gene

Gjc2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems.2 Publications

GO - Molecular functioni

  • gap junction channel activity Source: MGI

GO - Biological processi

  • cell-cell signaling Source: MGI
  • response to toxic substance Source: MGI
Complete GO annotation...

Protein family/group databases

TCDBi1.A.24.2.1. the gap junction-forming connexin (connexin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction gamma-2 protein
Alternative name(s):
Connexin-47
Short name:
Cx47
Gap junction alpha-12 protein
Gene namesi
Name:Gjc2
Synonyms:Gja12
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:2153060. Gjc2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 21CytoplasmicSequence analysisAdd BLAST21
Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Topological domaini43 – 78ExtracellularSequence analysisAdd BLAST36
Transmembranei79 – 99HelicalSequence analysisAdd BLAST21
Topological domaini100 – 223CytoplasmicSequence analysisAdd BLAST124
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Topological domaini245 – 264ExtracellularSequence analysisAdd BLAST20
Transmembranei265 – 285HelicalSequence analysisAdd BLAST21
Topological domaini286 – 440CytoplasmicSequence analysisAdd BLAST155

GO - Cellular componenti

  • connexin complex Source: InterPro
  • gap junction Source: MGI
  • integral component of membrane Source: UniProtKB-KW
  • myelin sheath Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Disruption phenotypei

Mice display myelination abnormalities characterized by extracellular vacuolation along nerve fibers. Mice lacking both Gja12 and Gjb1 display a more severe demyelination phenotype associated with oligodendrocyte death. These mice develop action tremors, tonic seizures, sporadic convulsions and loss of consciousness preceding death in the sixth week after birth.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578431 – 440Gap junction gamma-2 proteinAdd BLAST440

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei372PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8BQU6.
PRIDEiQ8BQU6.

PTM databases

iPTMnetiQ8BQU6.
PhosphoSitePlusiQ8BQU6.

Expressioni

Tissue specificityi

Mainly expressed by oligodendrocytes in the central nervous system (at protein level).3 Publications

Developmental stagei

Expression starts after birth in the central nervous system and parallels myelination process.1 Publication

Gene expression databases

BgeeiENSMUSG00000043448.
CleanExiMM_GJC2.
GenevisibleiQ8BQU6. MM.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. Interacts with TJP1.1 Publication

Protein-protein interaction databases

IntActiQ8BQU6. 1 interactor.
MINTiMINT-1891911.
STRINGi10090.ENSMUSP00000104418.

Structurei

3D structure databases

ProteinModelPortaliQ8BQU6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the connexin family. Gamma-type subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFK3. Eukaryota.
ENOG410Z7PN. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231126.
HOVERGENiHBG009576.
InParanoidiQ8BQU6.
KOiK07619.
OMAiDRDSPPC.
OrthoDBiEOG091G08B8.
PhylomeDBiQ8BQU6.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 2 hits.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8BQU6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTNMSWSFLT RLLEEIHNHS TFVGKVWLTV LVVFRIVLTA VGGESIYSDE
60 70 80 90 100
QSKFTCNTRQ PGCDNVCYDA FAPLSHVRFW VFQIVVISTP SVMYLGYAVH
110 120 130 140 150
RLARASEQER RRALRRRPGT RRLPRAQLPP PPPGWPDTTD LGEAEPILAL
160 170 180 190 200
EEDEDEEPGA PEGPGEDTEE ERAEDVAAKG GGGDGKTVVT PGPAGQHDGR
210 220 230 240 250
RRIQREGLMR VYVAQLVVRA AFEVAFLVGQ YLLYGFEVPP FFACSRQPCP
260 270 280 290 300
HVVDCFVSRP TEKTVFLLVM YVVSCLCLLL NLCEMAHLGL GSAQDAVRGR
310 320 330 340 350
RGASAAGPGP TPRPPPCAFP AAAAGLACPP DYSLVVRAAE RARAHDQNLA
360 370 380 390 400
NLALQALRDG AAVAAVSADR DSPPCAGLNA TSRGAPRVGG LASGTGSATS
410 420 430 440
GGTVGEQSRP GAQEQLATKP RAGSEKGSTG SRDGKATVWI
Length:440
Mass (Da):47,008
Last modified:November 8, 2005 - v2
Checksum:i2D11040FE28ADB1E
GO

Sequence cautioni

The sequence BAC32806 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAC19434 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti216L → V in BAC32722 (PubMed:16141072).Curated1
Sequence conflicti388V → A in CAC19434 (PubMed:11160382).Curated1
Sequence conflicti408S → G in CAC19434 (PubMed:11160382).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ276435 Genomic DNA. Translation: CAC19434.1. Different initiation.
AK046421 mRNA. Translation: BAC32722.1.
AK046609 mRNA. Translation: BAC32806.1. Different initiation.
AY394498 mRNA. Translation: AAR05823.1.
AY394499 mRNA. Translation: AAR05824.1.
AY394500 mRNA. Translation: AAR05825.1.
CCDSiCCDS24760.1.
RefSeqiNP_536702.3. NM_080454.4.
NP_780661.2. NM_175452.4.
UniGeneiMm.40016.

Genome annotation databases

EnsembliENSMUST00000108790; ENSMUSP00000104418; ENSMUSG00000043448.
ENSMUST00000108793; ENSMUSP00000104421; ENSMUSG00000043448.
GeneIDi118454.
KEGGimmu:118454.
UCSCiuc007jde.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ276435 Genomic DNA. Translation: CAC19434.1. Different initiation.
AK046421 mRNA. Translation: BAC32722.1.
AK046609 mRNA. Translation: BAC32806.1. Different initiation.
AY394498 mRNA. Translation: AAR05823.1.
AY394499 mRNA. Translation: AAR05824.1.
AY394500 mRNA. Translation: AAR05825.1.
CCDSiCCDS24760.1.
RefSeqiNP_536702.3. NM_080454.4.
NP_780661.2. NM_175452.4.
UniGeneiMm.40016.

3D structure databases

ProteinModelPortaliQ8BQU6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8BQU6. 1 interactor.
MINTiMINT-1891911.
STRINGi10090.ENSMUSP00000104418.

Protein family/group databases

TCDBi1.A.24.2.1. the gap junction-forming connexin (connexin) family.

PTM databases

iPTMnetiQ8BQU6.
PhosphoSitePlusiQ8BQU6.

Proteomic databases

PaxDbiQ8BQU6.
PRIDEiQ8BQU6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000108790; ENSMUSP00000104418; ENSMUSG00000043448.
ENSMUST00000108793; ENSMUSP00000104421; ENSMUSG00000043448.
GeneIDi118454.
KEGGimmu:118454.
UCSCiuc007jde.2. mouse.

Organism-specific databases

CTDi57165.
MGIiMGI:2153060. Gjc2.

Phylogenomic databases

eggNOGiENOG410IFK3. Eukaryota.
ENOG410Z7PN. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231126.
HOVERGENiHBG009576.
InParanoidiQ8BQU6.
KOiK07619.
OMAiDRDSPPC.
OrthoDBiEOG091G08B8.
PhylomeDBiQ8BQU6.
TreeFamiTF329606.

Miscellaneous databases

PROiQ8BQU6.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000043448.
CleanExiMM_GJC2.
GenevisibleiQ8BQU6. MM.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 2 hits.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCXG2_MOUSE
AccessioniPrimary (citable) accession number: Q8BQU6
Secondary accession number(s): Q6TLV2, Q8BQS2, Q9EPM1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: November 8, 2005
Last modified: November 2, 2016
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-4 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.