ID   CXD2_HUMAN              Reviewed;         321 AA.
AC   Q9UKL4; Q2M241; Q9P2R0;
DT   01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-MAY-2000, sequence version 1.
DT   03-AUG-2022, entry version 168.
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   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   PubMed=10462698;
RX   DOI=10.1002/(sici)1097-4547(19990901)57:5<740::aid-jnr16>3.0.co;2-z;
RA   Belluardo N., Trovato-Salinaro A., Mudo G., Hurd Y.L., Condorelli D.F.;
RT   "Structure, chromosomal localization, and brain expression of human Cx36
RT   gene.";
RL   J. Neurosci. Res. 57:740-752(1999).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 59-295.
RX   PubMed=15014171; DOI=10.1093/molbev/msh100;
RA   Kitano T., Liu Y.-H., Ueda S., Saitou N.;
RT   "Human-specific amino acid changes found in 103 protein-coding genes.";
RL   Mol. Biol. Evol. 21:936-944(2004).
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; AF153047; AAD54234.1; -; Genomic_DNA.
DR   EMBL; BC069339; AAH69339.1; -; mRNA.
DR   EMBL; BC112110; AAI12111.1; -; mRNA.
DR   EMBL; BC112114; AAI12115.1; -; mRNA.
DR   EMBL; AB037509; BAA90429.1; -; Genomic_DNA.
DR   CCDS; CCDS10040.1; -.
DR   RefSeq; NP_065711.1; NM_020660.2.
DR   PDB; 2N6A; NMR; -; A=276-292.
DR   PDBsum; 2N6A; -.
DR   AlphaFoldDB; Q9UKL4; -.
DR   SMR; Q9UKL4; -.
DR   BioGRID; 121496; 3.
DR   STRING; 9606.ENSP00000290374; -.
DR   TCDB; 1.A.24.1.13; the gap junction-forming connexin (connexin) family.
DR   iPTMnet; Q9UKL4; -.
DR   PhosphoSitePlus; Q9UKL4; -.
DR   BioMuta; GJD2; -.
DR   DMDM; 8928073; -.
DR   EPD; Q9UKL4; -.
DR   MassIVE; Q9UKL4; -.
DR   PaxDb; Q9UKL4; -.
DR   PeptideAtlas; Q9UKL4; -.
DR   PRIDE; Q9UKL4; -.
DR   ProteomicsDB; 84817; -.
DR   Antibodypedia; 9771; 273 antibodies from 29 providers.
DR   DNASU; 57369; -.
DR   Ensembl; ENST00000290374.5; ENSP00000290374.4; ENSG00000159248.5.
DR   GeneID; 57369; -.
DR   KEGG; hsa:57369; -.
DR   MANE-Select; ENST00000290374.5; ENSP00000290374.4; NM_020660.3; NP_065711.1.
DR   UCSC; uc001zis.3; human.
DR   CTD; 57369; -.
DR   DisGeNET; 57369; -.
DR   GeneCards; GJD2; -.
DR   HGNC; HGNC:19154; GJD2.
DR   HPA; ENSG00000159248; Tissue enhanced (adrenal gland, pituitary gland, retina).
DR   MIM; 607058; gene.
DR   neXtProt; NX_Q9UKL4; -.
DR   OpenTargets; ENSG00000159248; -.
DR   PharmGKB; PA162389706; -.
DR   VEuPathDB; HostDB:ENSG00000159248; -.
DR   eggNOG; ENOG502QV4X; Eukaryota.
DR   GeneTree; ENSGT01050000244833; -.
DR   HOGENOM; CLU_037388_4_0_1; -.
DR   InParanoid; Q9UKL4; -.
DR   OMA; KEMEPDC; -.
DR   OrthoDB; 872373at2759; -.
DR   PhylomeDB; Q9UKL4; -.
DR   TreeFam; TF329606; -.
DR   PathwayCommons; Q9UKL4; -.
DR   Reactome; R-HSA-112303; Electric Transmission Across Gap Junctions.
DR   Reactome; R-HSA-190861; Gap junction assembly.
DR   BioGRID-ORCS; 57369; 13 hits in 1065 CRISPR screens.
DR   GeneWiki; GJD2; -.
DR   GenomeRNAi; 57369; -.
DR   Pharos; Q9UKL4; Tbio.
DR   PRO; PR:Q9UKL4; -.
DR   Proteomes; UP000005640; Chromosome 15.
DR   RNAct; Q9UKL4; protein.
DR   Bgee; ENSG00000159248; Expressed in islet of Langerhans and 73 other tissues.
DR   Genevisible; Q9UKL4; HS.
DR   GO; GO:0005922; C:connexin complex; IEA:InterPro.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
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; IBA:GO_Central.
DR   GO; GO:0007268; P:chemical synaptic transmission; IEA:Ensembl.
DR   GO; GO:0019228; P:neuronal action potential; IEA:Ensembl.
DR   GO; GO:0007601; P:visual perception; IEA:Ensembl.
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   3D-structure; Cell junction; Cell membrane; Gap junction; Membrane;
KW   Reference proteome; Transmembrane; Transmembrane helix.
FT   CHAIN           1..321
FT                   /note="Gap junction delta-2 protein"
FT                   /id="PRO_0000057835"
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          118..141
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   HELIX           276..286
FT                   /evidence="ECO:0007829|PDB:2N6A"
SQ   SEQUENCE   321 AA;  36093 MW;  39980B61532A4E76 CRC64;
     MGEWTILERL LEAAVQQHST MIGRILLTVV VIFRILIVAI VGETVYDDEQ TMFVCNTLQP
     GCNQACYDRA FPISHIRYWV FQIIMVCTPS LCFITYSVHQ SAKQRERRYS TVFLALDRDP
     PESIGGPGGT GGGGSGGGKR EDKKLQNAIV NGVLQNTENT SKETEPDCLE VKELTPHPSG
     LRTASKSKLR RQEGISRFYI IQVVFRNALE IGFLVGQYFL YGFSVPGLYE CNRYPCIKEV
     ECYVSRPTEK TVFLVFMFAV SGICVVLNLA ELNHLGWRKI KLAVRGAQAK RKSIYEIRNK
     DLPRVSVPNF GRTQSSDSAY V