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Q9UKL4

- CXD2_HUMAN

UniProt

Q9UKL4 - CXD2_HUMAN

Protein

Gap junction delta-2 protein

Gene

GJD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      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.

    GO - Molecular functioni

    1. gap junction channel activity Source: Reactome

    GO - Biological processi

    1. action potential Source: Ensembl
    2. synaptic transmission Source: Reactome
    3. transmembrane transport Source: GOC
    4. visual perception Source: Ensembl

    Enzyme and pathway databases

    ReactomeiREACT_16970. Electric Transmission Across Gap Junctions.
    REACT_9509. Gap junction assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction delta-2 protein
    Alternative name(s):
    Connexin-36
    Short name:
    Cx36
    Gap junction alpha-9 protein
    Gene namesi
    Name:GJD2
    Synonyms:GJA9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:19154. GJD2.

    Subcellular locationi

    GO - Cellular componenti

    1. connexon complex Source: InterPro
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162389706.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 321321Gap junction delta-2 proteinPRO_0000057835Add
    BLAST

    Proteomic databases

    PaxDbiQ9UKL4.
    PRIDEiQ9UKL4.

    PTM databases

    PhosphoSiteiQ9UKL4.

    Expressioni

    Tissue specificityi

    Highly expressed in neurons.

    Gene expression databases

    BgeeiQ9UKL4.
    CleanExiHS_GJA9.
    HS_GJD2.
    GenevestigatoriQ9UKL4.

    Organism-specific databases

    HPAiHPA014355.

    Interactioni

    Subunit structurei

    A connexon is composed of a hexamer of connexins.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000290374.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UKL4.
    SMRiQ9UKL4. Positions 3-108, 182-275.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini43 – 7533ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini99 – 19799CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini221 – 25232ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini276 – 32146CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei20 – 4223HelicalSequence AnalysisAdd
    BLAST
    Transmembranei76 – 9823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei198 – 22023HelicalSequence AnalysisAdd
    BLAST
    Transmembranei253 – 27523HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi125 – 13814Poly-GlyAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG47775.
    HOGENOMiHOG000231127.
    HOVERGENiHBG009576.
    InParanoidiQ9UKL4.
    KOiK07373.
    OMAiNKETEPD.
    OrthoDBiEOG7FNC7T.
    PhylomeDBiQ9UKL4.
    TreeFamiTF329606.

    Family and domain databases

    InterProiIPR000500. Connexin.
    IPR002260. Connexin36.
    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.
    PR01131. CONNEXIN36.
    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.

    Q9UKL4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGEWTILERL LEAAVQQHST MIGRILLTVV VIFRILIVAI VGETVYDDEQ    50
    TMFVCNTLQP GCNQACYDRA FPISHIRYWV FQIIMVCTPS LCFITYSVHQ 100
    SAKQRERRYS TVFLALDRDP PESIGGPGGT GGGGSGGGKR EDKKLQNAIV 150
    NGVLQNTENT SKETEPDCLE VKELTPHPSG LRTASKSKLR RQEGISRFYI 200
    IQVVFRNALE IGFLVGQYFL YGFSVPGLYE CNRYPCIKEV ECYVSRPTEK 250
    TVFLVFMFAV SGICVVLNLA ELNHLGWRKI KLAVRGAQAK RKSIYEIRNK 300
    DLPRVSVPNF GRTQSSDSAY V 321
    Length:321
    Mass (Da):36,093
    Last modified:May 1, 2000 - v1
    Checksum:i39980B61532A4E76
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF153047 Genomic DNA. Translation: AAD54234.1.
    BC069339 mRNA. Translation: AAH69339.1.
    BC112110 mRNA. Translation: AAI12111.1.
    BC112114 mRNA. Translation: AAI12115.1.
    AB037509 Genomic DNA. Translation: BAA90429.1.
    CCDSiCCDS10040.1.
    RefSeqiNP_065711.1. NM_020660.2.
    UniGeneiHs.283816.

    Genome annotation databases

    EnsembliENST00000290374; ENSP00000290374; ENSG00000159248.
    GeneIDi57369.
    KEGGihsa:57369.
    UCSCiuc001zis.2. human.

    Polymorphism databases

    DMDMi8928073.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF153047 Genomic DNA. Translation: AAD54234.1 .
    BC069339 mRNA. Translation: AAH69339.1 .
    BC112110 mRNA. Translation: AAI12111.1 .
    BC112114 mRNA. Translation: AAI12115.1 .
    AB037509 Genomic DNA. Translation: BAA90429.1 .
    CCDSi CCDS10040.1.
    RefSeqi NP_065711.1. NM_020660.2.
    UniGenei Hs.283816.

    3D structure databases

    ProteinModelPortali Q9UKL4.
    SMRi Q9UKL4. Positions 3-108, 182-275.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000290374.

    Chemistry

    GuidetoPHARMACOLOGYi 724.

    PTM databases

    PhosphoSitei Q9UKL4.

    Polymorphism databases

    DMDMi 8928073.

    Proteomic databases

    PaxDbi Q9UKL4.
    PRIDEi Q9UKL4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290374 ; ENSP00000290374 ; ENSG00000159248 .
    GeneIDi 57369.
    KEGGi hsa:57369.
    UCSCi uc001zis.2. human.

    Organism-specific databases

    CTDi 57369.
    GeneCardsi GC15M035043.
    HGNCi HGNC:19154. GJD2.
    HPAi HPA014355.
    MIMi 607058. gene.
    neXtProti NX_Q9UKL4.
    PharmGKBi PA162389706.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47775.
    HOGENOMi HOG000231127.
    HOVERGENi HBG009576.
    InParanoidi Q9UKL4.
    KOi K07373.
    OMAi NKETEPD.
    OrthoDBi EOG7FNC7T.
    PhylomeDBi Q9UKL4.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_16970. Electric Transmission Across Gap Junctions.
    REACT_9509. Gap junction assembly.

    Miscellaneous databases

    GeneWikii GJD2.
    GenomeRNAii 57369.
    NextBioi 63474.
    PROi Q9UKL4.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UKL4.
    CleanExi HS_GJA9.
    HS_GJD2.
    Genevestigatori Q9UKL4.

    Family and domain databases

    InterProi IPR000500. Connexin.
    IPR002260. Connexin36.
    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.
    PR01131. CONNEXIN36.
    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. "Structure, chromosomal localization, and brain expression of human Cx36 gene."
      Belluardo N., Trovato-Salinaro A., Mudo G., Hurd Y.L., Condorelli D.F.
      J. Neurosci. Res. 57:740-752(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Human-specific amino acid changes found in 103 protein-coding genes."
      Kitano T., Liu Y.-H., Ueda S., Saitou N.
      Mol. Biol. Evol. 21:936-944(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 59-295.

    Entry informationi

    Entry nameiCXD2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UKL4
    Secondary accession number(s): Q2M241, Q9P2R0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 116 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3