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Q8BQU6

- CXG2_MOUSE

UniProt

Q8BQU6 - CXG2_MOUSE

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Protein
Gap junction gamma-2 protein
Gene
Gjc2, Gja12
Organism
Mus musculus (Mouse)
Status
Reviewed - 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

  1. gap junction channel activity Source: MGI
Complete GO annotation...

GO - Biological processi

  1. cell-cell signaling Source: MGI
  2. response to toxic substance Source: MGI
  3. transmembrane transport Source: GOC
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
ProteomesiUP000000589: Chromosome 11

Organism-specific databases

MGIiMGI:2153060. Gjc2.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Cell junctiongap junction 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2121Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei22 – 4221Helical; Reviewed prediction
Add
BLAST
Topological domaini43 – 7836Extracellular Reviewed prediction
Add
BLAST
Transmembranei79 – 9921Helical; Reviewed prediction
Add
BLAST
Topological domaini100 – 223124Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei224 – 24421Helical; Reviewed prediction
Add
BLAST
Topological domaini245 – 26420Extracellular Reviewed prediction
Add
BLAST
Transmembranei265 – 28521Helical; Reviewed prediction
Add
BLAST
Topological domaini286 – 440155Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. connexon complex Source: InterPro
  2. gap junction Source: MGI
  3. integral component of membrane Source: UniProtKB-KW
  4. 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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 440440Gap junction gamma-2 protein
PRO_0000057843Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei372 – 3721Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PRIDEiQ8BQU6.

PTM databases

PhosphoSiteiQ8BQU6.

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

BgeeiQ8BQU6.
CleanExiMM_GJC2.
GenevestigatoriQ8BQU6.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

IntActiQ8BQU6. 1 interaction.
MINTiMINT-1891911.

Structurei

3D structure databases

ProteinModelPortaliQ8BQU6.
SMRiQ8BQU6. Positions 6-111, 196-288.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG313094.
GeneTreeiENSGT00750000117376.
HOGENOMiHOG000231126.
HOVERGENiHBG009576.
InParanoidiQ8BQU6.
KOiK07619.
OMAiDRDSPPC.
OrthoDBiEOG79SDXT.
PhylomeDBiQ8BQU6.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 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

MTNMSWSFLT RLLEEIHNHS TFVGKVWLTV LVVFRIVLTA VGGESIYSDE    50
QSKFTCNTRQ PGCDNVCYDA FAPLSHVRFW VFQIVVISTP SVMYLGYAVH 100
RLARASEQER RRALRRRPGT RRLPRAQLPP PPPGWPDTTD LGEAEPILAL 150
EEDEDEEPGA PEGPGEDTEE ERAEDVAAKG GGGDGKTVVT PGPAGQHDGR 200
RRIQREGLMR VYVAQLVVRA AFEVAFLVGQ YLLYGFEVPP FFACSRQPCP 250
HVVDCFVSRP TEKTVFLLVM YVVSCLCLLL NLCEMAHLGL GSAQDAVRGR 300
RGASAAGPGP TPRPPPCAFP AAAAGLACPP DYSLVVRAAE RARAHDQNLA 350
NLALQALRDG AAVAAVSADR DSPPCAGLNA TSRGAPRVGG LASGTGSATS 400
GGTVGEQSRP GAQEQLATKP RAGSEKGSTG SRDGKATVWI 440
Length:440
Mass (Da):47,008
Last modified:November 8, 2005 - v2
Checksum:i2D11040FE28ADB1E
GO

Sequence cautioni

The sequence BAC32806.1 differs from that shown. Reason: Erroneous initiation.
The sequence CAC19434.1 differs from that shown. Reason: Erroneous initiation.

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti216 – 2161L → V in BAC32722. 1 Publication
Sequence conflicti388 – 3881V → A in CAC19434. 1 Publication
Sequence conflicti408 – 4081S → G in CAC19434. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS24760.1.
RefSeqi NP_536702.3. NM_080454.4.
NP_780661.2. NM_175452.4.
UniGenei Mm.40016.

3D structure databases

ProteinModelPortali Q8BQU6.
SMRi Q8BQU6. Positions 6-111, 196-288.
ModBasei Search...

Protein-protein interaction databases

IntActi Q8BQU6. 1 interaction.
MINTi MINT-1891911.

Protein family/group databases

TCDBi 1.A.24.2.1. the gap junction-forming connexin (connexin) family.

PTM databases

PhosphoSitei Q8BQU6.

Proteomic databases

PRIDEi Q8BQU6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000108790 ; ENSMUSP00000104418 ; ENSMUSG00000043448 .
ENSMUST00000108793 ; ENSMUSP00000104421 ; ENSMUSG00000043448 .
GeneIDi 118454.
KEGGi mmu:118454.
UCSCi uc007jde.2. mouse.

Organism-specific databases

CTDi 57165.
MGIi MGI:2153060. Gjc2.

Phylogenomic databases

eggNOGi NOG313094.
GeneTreei ENSGT00750000117376.
HOGENOMi HOG000231126.
HOVERGENi HBG009576.
InParanoidi Q8BQU6.
KOi K07619.
OMAi DRDSPPC.
OrthoDBi EOG79SDXT.
PhylomeDBi Q8BQU6.
TreeFami TF329606.

Miscellaneous databases

NextBioi 369746.
PROi Q8BQU6.
SOURCEi Search...

Gene expression databases

Bgeei Q8BQU6.
CleanExi MM_GJC2.
Genevestigatori Q8BQU6.

Family and domain databases

InterProi IPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
SMARTi SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view ]
PROSITEi PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Functional expression of the new gap junction gene connexin47 transcribed in mouse brain and spinal cord neurons."
    Teubner B., Odermatt B., Gueldenagel M., Soehl G., Degen J., Bukauskas F.F., Kronengold J., Verselis V.K., Jung Y.T., Kozak C.A., Schilling K., Willecke K.
    J. Neurosci. 21:1117-1126(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION.
    Strain: 129/SvJ.
  2. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6J.
    Tissue: Adipose tissue and Corpora quadrigemina.
  3. "Variable promoter usage and alternative splicing in five mouse connexin genes."
    Anderson C.L., Zundel M.A., Werner R.
    Genomics 85:238-244(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-79.
    Strain: Swiss Webster.
  4. "Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS."
    Odermatt B., Wellershaus K., Wallraff A., Seifert G., Degen J., Euwens C., Fuss B., Buessow H., Schilling K., Steinhaeuser C., Willecke K.
    J. Neurosci. 23:4549-4559(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE, TISSUE SPECIFICITY.
  5. "Connexins are critical for normal myelination in the CNS."
    Menichella D.M., Goodenough D.A., Sirkowski E., Scherer S.S., Paul D.L.
    J. Neurosci. 23:5963-5973(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE, FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  6. "Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brain."
    Li X., Ionescu A.V., Lynn B.D., Lu S., Kamasawa N., Morita M., Davidson K.G.V., Yasumura T., Rash J.E., Nagy J.I.
    Neuroscience 126:611-630(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TJP1, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  7. "Comprehensive identification of phosphorylation sites in postsynaptic density preparations."
    Trinidad J.C., Specht C.G., Thalhammer A., Schoepfer R., Burlingame A.L.
    Mol. Cell. Proteomics 5:914-922(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-372, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Brain.

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: July 9, 2014
This is version 101 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.

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

External Data

Dasty 3

Similar proteinsi