CXD2_MOUSE
ID CXD2_MOUSE Reviewed; 321 AA.
AC O54851; Q6PDP3; Q9JII0;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Gap junction delta-2 protein;
DE AltName: Full=Connexin-36;
DE Short=Cx36;
DE AltName: Full=Gap junction alpha-9 protein;
GN Name=Gjd2; Synonyms=Gja9;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=9753189; DOI=10.1046/j.1460-9568.1998.00163.x;
RA Condorelli D.F., Parenti R., Spinella F., Trovato Salinaro A.,
RA Belluardo N., Cardile V., Cicirata F.;
RT "Cloning of a new gap junction gene (Cx36) highly expressed in mammalian
RT brain neurons.";
RL Eur. J. Neurosci. 10:1202-1208(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC STRAIN=129/Sv;
RX PubMed=10876089; DOI=10.1016/s0378-1119(00)00202-x;
RA Cicirata F., Parenti R., Spinella F., Giglio S., Tuorto F., Zuffardi O.,
RA Gulisano M.;
RT "Genomic organization and chromosomal localization of the mouse Connexin36
RT (mCx36) gene.";
RL Gene 251:123-130(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- FUNCTION: One gap junction consists of a cluster of closely packed
CC pairs of transmembrane channels, the connexons, through which materials
CC of low MW diffuse from one cell to a neighboring cell.
CC -!- SUBUNIT: A connexon is composed of a hexamer of connexins.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell
CC junction, gap junction.
CC -!- TISSUE SPECIFICITY: Highly expressed in neurons.
CC -!- SIMILARITY: Belongs to the connexin family. Delta-type subfamily.
CC {ECO:0000305}.
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DR EMBL; AF016190; AAD13684.1; -; Genomic_DNA.
DR EMBL; AF226992; AAF86379.1; -; Genomic_DNA.
DR EMBL; AL844569; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466519; EDL27860.1; -; Genomic_DNA.
DR EMBL; BC058595; AAH58595.1; -; mRNA.
DR CCDS; CCDS16563.1; -.
DR RefSeq; NP_034420.2; NM_010290.2.
DR RefSeq; XP_017171134.1; XM_017315645.1.
DR AlphaFoldDB; O54851; -.
DR SMR; O54851; -.
DR BioGRID; 199930; 1.
DR STRING; 10090.ENSMUSP00000087742; -.
DR iPTMnet; O54851; -.
DR PhosphoSitePlus; O54851; -.
DR PaxDb; O54851; -.
DR PRIDE; O54851; -.
DR ProteomicsDB; 279224; -.
DR Antibodypedia; 9771; 273 antibodies from 29 providers.
DR DNASU; 14617; -.
DR Ensembl; ENSMUST00000090275; ENSMUSP00000087742; ENSMUSG00000068615.
DR GeneID; 14617; -.
DR KEGG; mmu:14617; -.
DR UCSC; uc008lpu.1; mouse.
DR CTD; 57369; -.
DR MGI; MGI:1334209; Gjd2.
DR VEuPathDB; HostDB:ENSMUSG00000068615; -.
DR eggNOG; ENOG502QV4X; Eukaryota.
DR GeneTree; ENSGT01050000244833; -.
DR HOGENOM; CLU_037388_4_0_1; -.
DR InParanoid; O54851; -.
DR OMA; KEMEPDC; -.
DR OrthoDB; 872373at2759; -.
DR PhylomeDB; O54851; -.
DR TreeFam; TF329606; -.
DR Reactome; R-MMU-112303; Electric Transmission Across Gap Junctions.
DR Reactome; R-MMU-190861; Gap junction assembly.
DR BioGRID-ORCS; 14617; 2 hits in 72 CRISPR screens.
DR PRO; PR:O54851; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; O54851; protein.
DR Bgee; ENSMUSG00000068615; Expressed in thoracic ganglion and 86 other tissues.
DR Genevisible; O54851; MM.
DR GO; GO:0005922; C:connexin complex; IEA:InterPro.
DR GO; GO:0005921; C:gap junction; ISO:MGI.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR GO; GO:0007267; P:cell-cell signaling; IMP:MGI.
DR GO; GO:0007268; P:chemical synaptic transmission; IMP:MGI.
DR GO; GO:0019228; P:neuronal action potential; IMP:MGI.
DR GO; GO:0007601; P:visual perception; IMP:MGI.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR002260; Connexin36.
DR InterPro; IPR019570; Connexin_CCC.
DR InterPro; IPR017990; Connexin_CS.
DR InterPro; IPR013092; Connexin_N.
DR InterPro; IPR038359; Connexin_N_sf.
DR PANTHER; PTHR11984; PTHR11984; 1.
DR Pfam; PF00029; Connexin; 1.
DR PRINTS; PR00206; CONNEXIN.
DR PRINTS; PR01131; CONNEXIN36.
DR SMART; SM00037; CNX; 1.
DR SMART; SM01089; Connexin_CCC; 1.
DR PROSITE; PS00407; CONNEXINS_1; 1.
DR PROSITE; PS00408; CONNEXINS_2; 1.
PE 1: Evidence at protein level;
KW Cell junction; Cell membrane; Gap junction; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..321
FT /note="Gap junction delta-2 protein"
FT /id="PRO_0000057836"
FT TOPO_DOM 1..19
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 20..42
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 43..75
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 76..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 99..197
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 198..220
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 221..252
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 253..275
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 276..321
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 120..141
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 17
FT /note="Missing (in Ref. 2; AAF86379)"
FT /evidence="ECO:0000305"
FT CONFLICT 76
FT /note="I -> V (in Ref. 1; AAD13684)"
FT /evidence="ECO:0000305"
FT CONFLICT 149
FT /note="I -> M (in Ref. 1; AAD13684)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 321 AA; 36082 MW; 77858B58CF4B5F5E CRC64;
MGEWTILERL LEAAVQQHST MIGRILLTVV VIFRILIVAI VGETVYDDEQ TMFVCNTLQP
GCNQACYDRA FPISHIRYWV FQIIMVCTPS LCFITYSVHQ SAKQRERRYS TVFLALDRDP
AESIGGPGGT GGGGSGGSKR EDKKLQNAIV NGVLQNTETT SKETEPDCLE VKELTPHPSG
LRTAARSKLR RQEGISRFYI IQVVFRNALE IGFLVGQYFL YGFSVPGLYE CNRYPCIKEV
ECYVSRPTEK TVFLVFMFAV SGICVVLNLA ELNHLGWRKI KLAVRGAQAK RKSVYEIRNK
DLPRVSVPNF GRTQSSDSAY V
