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Q5T442

- CXG2_HUMAN

UniProt

Q5T442 - CXG2_HUMAN

Protein

Gap junction gamma-2 protein

Gene

GJC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      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. May play a role in myelination in central and peripheral nervous systems.1 Publication

    GO - Molecular functioni

    1. gap junction channel activity Source: Ensembl

    GO - Biological processi

    1. cell-cell signaling Source: Ensembl
    2. cell death Source: UniProtKB-KW
    3. response to toxic substance Source: Ensembl

    Enzyme and pathway databases

    ReactomeiREACT_9509. Gap junction assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction gamma-2 protein
    Alternative name(s):
    Connexin-46.6
    Short name:
    Cx46.6
    Connexin-47
    Short name:
    Cx47
    Gap junction alpha-12 protein
    Gene namesi
    Name:GJC2
    Synonyms:GJA12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:17494. GJC2.

    Subcellular locationi

    GO - Cellular componenti

    1. connexon complex Source: InterPro
    2. integral component of membrane Source: UniProtKB-KW
    3. myelin sheath Source: Ensembl

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]: An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901P → S in HLD2. 1 Publication
    VAR_023754
    Natural varianti272 – 2721Y → D in HLD2. 1 Publication
    VAR_023755
    Natural varianti286 – 2861M → T in HLD2. 1 Publication
    VAR_023756
    Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361I → M in SPG44; does not form functional homotypic channels. 1 Publication
    VAR_063172
    Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480]: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481S → L in LMPH1C. 1 Publication
    VAR_063877
    Natural varianti260 – 2601R → C in LMPH1C. 1 Publication
    VAR_063880

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Leukodystrophy, Neurodegeneration

    Organism-specific databases

    MIMi608804. phenotype.
    613206. phenotype.
    613480. phenotype.
    Orphaneti320401. Autosomal recessive spastic paraplegia type 44.
    79452. Milroy disease.
    280282. Pelizaeus-Merzbacher-like due to GJC2 mutation.
    PharmGKBiPA162389696.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 439439Gap junction gamma-2 proteinPRO_0000057842Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei371 – 3711PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ5T442.
    PRIDEiQ5T442.

    PTM databases

    PhosphoSiteiQ5T442.

    Expressioni

    Tissue specificityi

    Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.1 Publication

    Gene expression databases

    BgeeiQ5T442.
    CleanExiHS_GJC2.
    GenevestigatoriQ5T442.

    Interactioni

    Subunit structurei

    A connexon is composed of a hexamer of connexins. Interacts with TJP1 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi121419. 1 interaction.
    IntActiQ5T442. 1 interaction.
    STRINGi9606.ENSP00000355675.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5T442.
    SMRiQ5T442. Positions 6-111, 197-289.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini47 – 7832ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini100 – 216117CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini238 – 26528ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini287 – 439153CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei79 – 9921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei217 – 23721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei266 – 28621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi143 – 17634Glu-richAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG313094.
    HOGENOMiHOG000231126.
    HOVERGENiHBG009576.
    InParanoidiQ5T442.
    KOiK07619.
    OMAiDRDSPPC.
    OrthoDBiEOG79SDXT.
    PhylomeDBiQ5T442.
    TreeFamiTF329606.

    Family and domain databases

    InterProiIPR000500. Connexin.
    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.
    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.

    Q5T442-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTNMSWSFLT RLLEEIHNHS TFVGKVWLTV LVVFRIVLTA VGGEAIYSDE    50
    QAKFTCNTRQ PGCDNVCYDA FAPLSHVRFW VFQIVVISTP SVMYLGYAVH 100
    RLARASEQER RRALRRRPGP RRAPRAHLPP PHAGWPEPAD LGEEEPMLGL 150
    GEEEEEEETG AAEGAGEEAE EAGAEEACTK AVGADGKAAG TPGPTGQHDG 200
    RRRIQREGLM RVYVAQLVAR AAFEVAFLVG QYLLYGFEVR PFFPCSRQPC 250
    PHVVDCFVSR PTEKTVFLLV MYVVSCLCLL LNLCEMAHLG LGSAQDAVRG 300
    RRGPPASAPA PAPRPPPCAF PAAAAGLACP PDYSLVVRAA ERARAHDQNL 350
    ANLALQALRD GAAAGDRDRD SSPCVGLPAA SRGPPRAGAP ASRTGSATSA 400
    GTVGEQGRPG THERPGAKPR AGSEKGSASS RDGKTTVWI 439
    Length:439
    Mass (Da):47,002
    Last modified:December 21, 2004 - v1
    Checksum:i09725B5DC476672A
    GO

    Sequence cautioni

    The sequence AAB94511.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH35840.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti83 – 831Q → H in AAB94511. 1 PublicationCurated
    Sequence conflicti252 – 2521H → Q in AAB94511. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191H → P Associated with lymphedema in a small family. 1 Publication
    VAR_063876
    Natural varianti36 – 361I → M in SPG44; does not form functional homotypic channels. 1 Publication
    VAR_063172
    Natural varianti48 – 481S → L in LMPH1C. 1 Publication
    VAR_063877
    Natural varianti90 – 901P → S in HLD2. 1 Publication
    VAR_023754
    Natural varianti125 – 1251R → Q Associated with lymphedema in a small family. 1 Publication
    VAR_063878
    Natural varianti149 – 1491G → S Associated with lymphedema in a small family. 1 Publication
    VAR_063879
    Natural varianti260 – 2601R → C in LMPH1C. 1 Publication
    VAR_063880
    Natural varianti272 – 2721Y → D in HLD2. 1 Publication
    VAR_023755
    Natural varianti286 – 2861M → T in HLD2. 1 Publication
    VAR_023756
    Natural varianti316 – 3161P → L Associated with lymphedema in a small family. 1 Publication
    VAR_063881

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF014643 Genomic DNA. Translation: AAB94511.1. Different initiation.
    AL359510 Genomic DNA. Translation: CAI15069.1.
    BC035840 mRNA. Translation: AAH35840.1. Different initiation.
    BC089439 mRNA. Translation: AAH89439.1.
    AY285161 mRNA. Translation: AAP37488.1.
    CCDSiCCDS1569.1.
    RefSeqiNP_065168.2. NM_020435.3.
    UniGeneiHs.100072.
    Hs.743715.

    Genome annotation databases

    EnsembliENST00000366714; ENSP00000355675; ENSG00000198835.
    GeneIDi57165.
    KEGGihsa:57165.
    UCSCiuc001hsk.3. human.

    Polymorphism databases

    DMDMi74744875.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF014643 Genomic DNA. Translation: AAB94511.1 . Different initiation.
    AL359510 Genomic DNA. Translation: CAI15069.1 .
    BC035840 mRNA. Translation: AAH35840.1 . Different initiation.
    BC089439 mRNA. Translation: AAH89439.1 .
    AY285161 mRNA. Translation: AAP37488.1 .
    CCDSi CCDS1569.1.
    RefSeqi NP_065168.2. NM_020435.3.
    UniGenei Hs.100072.
    Hs.743715.

    3D structure databases

    ProteinModelPortali Q5T442.
    SMRi Q5T442. Positions 6-111, 197-289.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121419. 1 interaction.
    IntActi Q5T442. 1 interaction.
    STRINGi 9606.ENSP00000355675.

    Chemistry

    GuidetoPHARMACOLOGYi 731.

    PTM databases

    PhosphoSitei Q5T442.

    Polymorphism databases

    DMDMi 74744875.

    Proteomic databases

    PaxDbi Q5T442.
    PRIDEi Q5T442.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000366714 ; ENSP00000355675 ; ENSG00000198835 .
    GeneIDi 57165.
    KEGGi hsa:57165.
    UCSCi uc001hsk.3. human.

    Organism-specific databases

    CTDi 57165.
    GeneCardsi GC01P228337.
    HGNCi HGNC:17494. GJC2.
    MIMi 608803. gene.
    608804. phenotype.
    613206. phenotype.
    613480. phenotype.
    neXtProti NX_Q5T442.
    Orphaneti 320401. Autosomal recessive spastic paraplegia type 44.
    79452. Milroy disease.
    280282. Pelizaeus-Merzbacher-like due to GJC2 mutation.
    PharmGKBi PA162389696.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG313094.
    HOGENOMi HOG000231126.
    HOVERGENi HBG009576.
    InParanoidi Q5T442.
    KOi K07619.
    OMAi DRDSPPC.
    OrthoDBi EOG79SDXT.
    PhylomeDBi Q5T442.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.

    Miscellaneous databases

    GeneWikii GJC2.
    GenomeRNAii 57165.
    NextBioi 63173.
    PROi Q5T442.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q5T442.
    CleanExi HS_GJC2.
    Genevestigatori Q5T442.

    Family and domain databases

    InterProi IPR000500. Connexin.
    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.
    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. "Cloning and molecular characterization of human connexin46.6, a new gap junction gene."
      Bloemker B.K., Swaroop A., Kimberling W.J.
      Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
      Tissue: Brain and Chondrosarcoma.
    4. "Human connexin47, updated ORF."
      Enriquez A.D., Scherer S.S.
      Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-439.
      Tissue: Corpus callosum.
    5. "Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease."
      Uhlenberg B., Schuelke M., Rueschendorf F., Ruf N., Kaindl A.M., Henneke M., Thiele H., Stoltenburg-Didinger G., Aksu F., Topaloglu H., Nuernberg P., Huebner C., Weschke B., Gaertner J.
      Am. J. Hum. Genet. 75:251-260(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DISEASE, VARIANTS HLD2 SER-90; ASP-272 AND THR-286, TISSUE SPECIFICITY.
    6. Cited for: VARIANT SPG44 MET-36, CHARACTERIZATION OF VARIANT SPG44 MET-36.
    7. Cited for: VARIANTS LMPH1C LEU-48 AND CYS-260, VARIANTS PRO-19; GLN-125; SER-149 AND LEU-316.

    Entry informationi

    Entry nameiCXG2_HUMAN
    AccessioniPrimary (citable) accession number: Q5T442
    Secondary accession number(s): O43440, Q7Z7J2, Q8IWJ9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2005
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 104 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

    Caution

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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3