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Q8BQU6

- CXG2_MOUSE

UniProt

Q8BQU6 - CXG2_MOUSE

Protein

Gap junction gamma-2 protein

Gene

Gjc2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 2 (08 Nov 2005)
      Previous versions | rss
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    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

    GO - Biological processi

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

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

    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

    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 proteinPRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2121CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini43 – 7836ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini100 – 223124CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini245 – 26420ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini286 – 440155CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei22 – 4221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei79 – 9921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei224 – 24421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei265 – 28521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

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

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti216 – 2161L → V in BAC32722. (PubMed:16141072)Curated
    Sequence conflicti388 – 3881V → A in CAC19434. (PubMed:11160382)Curated
    Sequence conflicti408 – 4081S → G in CAC19434. (PubMed:11160382)Curated

    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 102 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

    External Data

    Dasty 3