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Q8BQU6 (CXG2_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gap junction gamma-2 protein
Alternative name(s):
Connexin-47
Short name=Cx47
Gap junction alpha-12 protein
Gene names
Name:Gjc2
Synonyms:Gja12
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length440 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.5

Subunit structure

A connexon is composed of a hexamer of connexins. Interacts with TJP1. Ref.6

Subcellular location

Cell membrane; Multi-pass membrane protein. Cell junctiongap junction Ref.6.

Tissue specificity

Mainly expressed by oligodendrocytes in the central nervous system (at protein level). Ref.4 Ref.5 Ref.6

Developmental stage

Expression starts after birth in the central nervous system and parallels myelination process. Ref.5

Disruption phenotype

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. Ref.4 Ref.5

Sequence similarities

Belongs to the connexin family. Gamma-type subfamily.

Caution

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

Sequence caution

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

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 440440Gap junction gamma-2 protein
PRO_0000057843

Regions

Topological domain1 – 2121Cytoplasmic Potential
Transmembrane22 – 4221Helical; Potential
Topological domain43 – 7836Extracellular Potential
Transmembrane79 – 9921Helical; Potential
Topological domain100 – 223124Cytoplasmic Potential
Transmembrane224 – 24421Helical; Potential
Topological domain245 – 26420Extracellular Potential
Transmembrane265 – 28521Helical; Potential
Topological domain286 – 440155Cytoplasmic Potential

Amino acid modifications

Modified residue3721Phosphoserine Ref.7

Experimental info

Sequence conflict2161L → V in BAC32722. Ref.2
Sequence conflict3881V → A in CAC19434. Ref.1
Sequence conflict4081S → G in CAC19434. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q8BQU6 [UniParc].

Last modified November 8, 2005. Version 2.
Checksum: 2D11040FE28ADB1E

FASTA44047,008
        10         20         30         40         50         60 
MTNMSWSFLT RLLEEIHNHS TFVGKVWLTV LVVFRIVLTA VGGESIYSDE QSKFTCNTRQ 

        70         80         90        100        110        120 
PGCDNVCYDA FAPLSHVRFW VFQIVVISTP SVMYLGYAVH RLARASEQER RRALRRRPGT 

       130        140        150        160        170        180 
RRLPRAQLPP PPPGWPDTTD LGEAEPILAL EEDEDEEPGA PEGPGEDTEE ERAEDVAAKG 

       190        200        210        220        230        240 
GGGDGKTVVT PGPAGQHDGR RRIQREGLMR VYVAQLVVRA AFEVAFLVGQ YLLYGFEVPP 

       250        260        270        280        290        300 
FFACSRQPCP HVVDCFVSRP TEKTVFLLVM YVVSCLCLLL NLCEMAHLGL GSAQDAVRGR 

       310        320        330        340        350        360 
RGASAAGPGP TPRPPPCAFP AAAAGLACPP DYSLVVRAAE RARAHDQNLA NLALQALRDG 

       370        380        390        400        410        420 
AAVAAVSADR DSPPCAGLNA TSRGAPRVGG LASGTGSATS GGTVGEQSRP GAQEQLATKP 

       430        440 
RAGSEKGSTG SRDGKATVWI 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS24760.1.
RefSeqNP_536702.3. NM_080454.4.
NP_780661.2. NM_175452.4.
UniGeneMm.40016.

3D structure databases

ProteinModelPortalQ8BQU6.
SMRQ8BQU6. Positions 6-111, 196-288.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8BQU6. 1 interaction.
MINTMINT-1891911.

Protein family/group databases

TCDB1.A.24.2.1. the gap junction-forming connexin (connexin) family.

PTM databases

PhosphoSiteQ8BQU6.

Proteomic databases

PRIDEQ8BQU6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000108790; ENSMUSP00000104418; ENSMUSG00000043448.
ENSMUST00000108793; ENSMUSP00000104421; ENSMUSG00000043448.
GeneID118454.
KEGGmmu:118454.
UCSCuc007jde.2. mouse.

Organism-specific databases

CTD57165.
MGIMGI:2153060. Gjc2.

Phylogenomic databases

eggNOGNOG313094.
GeneTreeENSGT00750000117376.
HOGENOMHOG000231126.
HOVERGENHBG009576.
InParanoidQ8BQU6.
KOK07619.
OMADRDSPPC.
OrthoDBEOG79SDXT.
PhylomeDBQ8BQU6.
TreeFamTF329606.

Gene expression databases

BgeeQ8BQU6.
CleanExMM_GJC2.
GenevestigatorQ8BQU6.

Family and domain databases

InterProIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERPTHR11984. PTHR11984. 1 hit.
PfamPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSPR00206. CONNEXIN.
SMARTSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio369746.
PROQ8BQU6.
SOURCESearch...

Entry information

Entry nameCXG2_MOUSE
AccessionPrimary (citable) accession number: Q8BQU6
Secondary accession number(s): Q6TLV2, Q8BQS2, Q9EPM1
Entry history
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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot