CXB2_MOUSE
ID CXB2_MOUSE Reviewed; 226 AA.
AC Q00977;
DT 01-APR-1993, integrated into UniProtKB/Swiss-Prot.
DT 01-APR-1993, sequence version 1.
DT 03-AUG-2022, entry version 178.
DE RecName: Full=Gap junction beta-2 protein;
DE AltName: Full=Connexin-26;
DE Short=Cx26;
GN Name=Gjb2; Synonyms=Cxn-26;
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=1322820;
RA Willecke K., Nicholson B.J., Dahl E., Kozjek G., Hennemann H.;
RT "Molecular cloning of mouse connexins26 and -32: similar genomic
RT organization but distinct promoter sequences of two gap junction genes.";
RL Eur. J. Cell Biol. 58:81-89(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=2060697; DOI=10.1016/0012-1606(91)90452-9;
RA Nishi M., Kumar N.M., Gilula N.B.;
RT "Developmental regulation of gap junction gene expression during mouse
RT embryonic development.";
RL Dev. Biol. 146:117-130(1991).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=FVB/N; TISSUE=Liver, and Olfactory epithelium;
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 [4]
RP FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RX PubMed=15692151; DOI=10.1152/ajpcell.00341.2004;
RA Sun J., Ahmad S., Chen S., Tang W., Zhang Y., Chen P., Lin X.;
RT "Cochlear gap junctions coassembled from Cx26 and 30 show faster
RT intercellular Ca2+ signaling than homomeric counterparts.";
RL Am. J. Physiol. 288:C613-C623(2005).
RN [5]
RP INTERACTION WITH CNST, AND SUBCELLULAR LOCATION.
RX PubMed=19864490; DOI=10.1093/hmg/ddp490;
RA del Castillo F.J., Cohen-Salmon M., Charollais A., Caille D., Lampe P.D.,
RA Chavrier P., Meda P., Petit C.;
RT "Consortin, a trans-Golgi network cargo receptor for the plasma membrane
RT targeting and recycling of connexins.";
RL Hum. Mol. Genet. 19:262-275(2010).
CC -!- FUNCTION: Structural component of gap junctions (PubMed:15692151). Gap
CC junctions are dodecameric channels that connect the cytoplasm of
CC adjoining cells. They are formed by the docking of two hexameric
CC hemichannels, one from each cell membrane (By similarity). Small
CC molecules and ions diffuse from one cell to a neighboring cell via the
CC central pore (PubMed:15692151). {ECO:0000250|UniProtKB:P29033,
CC ECO:0000269|PubMed:15692151}.
CC -!- SUBUNIT: A hemichannel or connexon is composed of a hexamer of
CC connexins. A functional gap junction is formed by the apposition of two
CC hemichannels (By similarity). Forms heteromeric channels with GJB4
CC (PubMed:15692151). Interacts with CNST (PubMed:19864490).
CC {ECO:0000250|UniProtKB:P29033, ECO:0000269|PubMed:15692151,
CC ECO:0000269|PubMed:19864490}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15692151,
CC ECO:0000269|PubMed:19864490}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:P29033}. Cell junction, gap junction
CC {ECO:0000269|PubMed:15692151, ECO:0000269|PubMed:19864490}.
CC Note=Colocalizes with GJB4 at gap junction plaques in the cochlea.
CC {ECO:0000269|PubMed:15692151}.
CC -!- TISSUE SPECIFICITY: Detected in cochlea (at protein level)
CC (PubMed:15692151). Detected in cochlea (PubMed:15692151). Liver,
CC kidney, intestine, lung, spleen, stomach, testis and brain, but not
CC heart and adult skeletal muscle. {ECO:0000269|PubMed:15692151}.
CC -!- DEVELOPMENTAL STAGE: Detected in cochlea after 14.5 dpc. Detected in
CC the spiral limbus in neoneates at 2, 8 and 12 days after birth, before
CC the onset of hearing. {ECO:0000269|PubMed:15692151}.
CC -!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
CC subfamily. {ECO:0000305}.
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DR EMBL; M81445; AAA37495.1; -; Genomic_DNA.
DR EMBL; M63803; AAA37276.1; -; mRNA.
DR EMBL; BC013634; AAH13634.1; -; mRNA.
DR EMBL; BC051437; AAH51437.1; -; mRNA.
DR CCDS; CCDS27153.1; -.
DR RefSeq; NP_032151.1; NM_008125.3.
DR AlphaFoldDB; Q00977; -.
DR SMR; Q00977; -.
DR BioGRID; 199932; 1.
DR IntAct; Q00977; 1.
DR STRING; 10090.ENSMUSP00000054343; -.
DR iPTMnet; Q00977; -.
DR PhosphoSitePlus; Q00977; -.
DR jPOST; Q00977; -.
DR PaxDb; Q00977; -.
DR PeptideAtlas; Q00977; -.
DR PRIDE; Q00977; -.
DR ProteomicsDB; 284074; -.
DR Antibodypedia; 4587; 337 antibodies from 37 providers.
DR DNASU; 14619; -.
DR Ensembl; ENSMUST00000055698; ENSMUSP00000054343; ENSMUSG00000046352.
DR GeneID; 14619; -.
DR KEGG; mmu:14619; -.
DR UCSC; uc007ucx.2; mouse.
DR CTD; 2706; -.
DR MGI; MGI:95720; Gjb2.
DR VEuPathDB; HostDB:ENSMUSG00000046352; -.
DR eggNOG; ENOG502QWM8; Eukaryota.
DR GeneTree; ENSGT01030000234513; -.
DR HOGENOM; CLU_037388_4_1_1; -.
DR InParanoid; Q00977; -.
DR OMA; RKFMKGE; -.
DR OrthoDB; 1043502at2759; -.
DR PhylomeDB; Q00977; -.
DR TreeFam; TF329606; -.
DR Reactome; R-MMU-190872; Transport of connexons to the plasma membrane.
DR BioGRID-ORCS; 14619; 1 hit in 73 CRISPR screens.
DR ChiTaRS; Gjb2; mouse.
DR PRO; PR:Q00977; -.
DR Proteomes; UP000000589; Chromosome 14.
DR RNAct; Q00977; protein.
DR Bgee; ENSMUSG00000046352; Expressed in placenta labyrinth and 201 other tissues.
DR ExpressionAtlas; Q00977; baseline and differential.
DR Genevisible; Q00977; MM.
DR GO; GO:0097449; C:astrocyte projection; ISO:MGI.
DR GO; GO:0044297; C:cell body; ISO:MGI.
DR GO; GO:0030054; C:cell junction; ISO:MGI.
DR GO; GO:0005922; C:connexin complex; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISO:MGI.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0005921; C:gap junction; IDA:MGI.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
DR GO; GO:0016328; C:lateral plasma membrane; ISO:MGI.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; ISO:MGI.
DR GO; GO:0005886; C:plasma membrane; ISO:MGI.
DR GO; GO:0005509; F:calcium ion binding; ISS:UniProtKB.
DR GO; GO:0005243; F:gap junction channel activity; IDA:UniProtKB.
DR GO; GO:1903763; F:gap junction channel activity involved in cell communication by electrical coupling; ISO:MGI.
DR GO; GO:0042802; F:identical protein binding; ISO:MGI.
DR GO; GO:0007568; P:aging; IEA:Ensembl.
DR GO; GO:0007267; P:cell-cell signaling; IDA:UniProtKB.
DR GO; GO:0071549; P:cellular response to dexamethasone stimulus; IEA:Ensembl.
DR GO; GO:0071377; P:cellular response to glucagon stimulus; IEA:Ensembl.
DR GO; GO:0034599; P:cellular response to oxidative stress; IEA:Ensembl.
DR GO; GO:0046697; P:decidualization; IEA:Ensembl.
DR GO; GO:1905867; P:epididymis development; IEA:Ensembl.
DR GO; GO:0016264; P:gap junction assembly; IMP:MGI.
DR GO; GO:1990349; P:gap junction-mediated intercellular transport; IDA:UniProtKB.
DR GO; GO:0048839; P:inner ear development; IEA:Ensembl.
DR GO; GO:0046677; P:response to antibiotic; IEA:Ensembl.
DR GO; GO:0032355; P:response to estradiol; IEA:Ensembl.
DR GO; GO:0044752; P:response to human chorionic gonadotropin; IEA:Ensembl.
DR GO; GO:0002931; P:response to ischemia; IEA:Ensembl.
DR GO; GO:0032496; P:response to lipopolysaccharide; IEA:Ensembl.
DR GO; GO:0032570; P:response to progesterone; IEA:Ensembl.
DR GO; GO:0032526; P:response to retinoic acid; IEA:Ensembl.
DR GO; GO:0007605; P:sensory perception of sound; IEA:UniProtKB-KW.
DR GO; GO:0055085; P:transmembrane transport; ISO:MGI.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR002268; Connexin26.
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; PR01139; CONNEXINB2.
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 Calcium; Cell junction; Cell membrane; Disulfide bond; Gap junction;
KW Hearing; Membrane; Metal-binding; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..226
FT /note="Gap junction beta-2 protein"
FT /id="PRO_0000057858"
FT INTRAMEM 2..13
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT TOPO_DOM 14..20
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 21..40
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT TOPO_DOM 41..73
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 74..94
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT TOPO_DOM 95..135
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 136..156
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT TOPO_DOM 157..189
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 190..210
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT TOPO_DOM 211..226
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT BINDING 42
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_note="ligand shared between two neighboring
FT subunits"
FT /note="in other chain"
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT BINDING 45
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_note="ligand shared between two neighboring
FT subunits"
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT BINDING 47
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_note="ligand shared between two neighboring
FT subunits"
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT DISULFID 53..180
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT DISULFID 60..174
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT DISULFID 64..169
FT /evidence="ECO:0000250|UniProtKB:P29033"
SQ SEQUENCE 226 AA; 26411 MW; 0D8178F7A339E0B6 CRC64;
MDWGTLQSIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD FVCNTLQPGC
KNVCYDHHFP ISHIRLWALQ LIMVSTPALL VAMHVAYRRH EKKRKFMKGE IKNEFKDIEE
IKTQKVRIEG SLWWTYTTSI FFRVIFEAVF MYVFYIMYNG FFMQRLVKCN AWPCPNTVDC
FISRPTEKTV FTVFMISVSG ICILLNITEL CYLFVRYCSG KSKRPV