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O75712

- CXB3_HUMAN

UniProt

O75712 - CXB3_HUMAN

Protein

Gap junction beta-3 protein

Gene

GJB3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      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: UniProtKB

    GO - Biological processi

    1. cell communication Source: InterPro
    2. in utero embryonic development Source: Ensembl
    3. placenta development Source: Ensembl
    4. sensory perception of sound Source: Ensembl
    5. skin development Source: Ensembl
    6. transmembrane transport Source: GOC

    Enzyme and pathway databases

    ReactomeiREACT_9509. Gap junction assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction beta-3 protein
    Alternative name(s):
    Connexin-31
    Short name:
    Cx31
    Gene namesi
    Name:GJB3
    Synonyms:CX31
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4285. GJB3.

    Subcellular locationi

    GO - Cellular componenti

    1. connexon complex Source: InterPro
    2. cytoplasm Source: Ensembl
    3. gap junction Source: UniProtKB
    4. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Erythrokeratodermia variabilis (EKV) [MIM:133200]: A genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121G → D in EKV. 1 Publication
    VAR_002147
    Natural varianti12 – 121G → R in EKV. 1 Publication
    VAR_002148
    Natural varianti42 – 421R → P in EKV. 2 Publications
    VAR_015085
    Natural varianti86 – 861C → S in EKV. 1 Publication
    VAR_002149
    Natural varianti137 – 1371F → L in EKV. 1 Publication
    VAR_015086
    Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]: A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti141 – 1411I → V in DFNA2B.
    VAR_015087
    Natural varianti183 – 1831E → K in DFNA2B. 1 Publication
    Corresponds to variant rs74315318 [ dbSNP | Ensembl ].
    VAR_002150

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness, Palmoplantar keratoderma

    Organism-specific databases

    MIMi133200. phenotype.
    603324. gene+phenotype.
    612644. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    317. Erythrokeratodermia variabilis.
    139512. Neuropathy with hearing impairment.
    495. Transgrediens et progrediens palmoplantar keratoderma.
    PharmGKBiPA28696.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 270270Gap junction beta-3 proteinPRO_0000057862Add
    BLAST

    Proteomic databases

    MaxQBiO75712.
    PaxDbiO75712.
    PRIDEiO75712.

    PTM databases

    PhosphoSiteiO75712.

    Expressioni

    Gene expression databases

    ArrayExpressiO75712.
    BgeeiO75712.
    CleanExiHS_GJB3.
    GenevestigatoriO75712.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi108973. 3 interactions.
    IntActiO75712. 1 interaction.
    STRINGi9606.ENSP00000362460.

    Structurei

    3D structure databases

    ProteinModelPortaliO75712.
    SMRiO75712. Positions 2-210.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini41 – 7535ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini99 – 12628CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini150 – 18738ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini211 – 27060CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4020HelicalSequence AnalysisAdd
    BLAST
    Transmembranei76 – 9823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei127 – 14923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei188 – 21023HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG39157.
    HOGENOMiHOG000231127.
    HOVERGENiHBG009576.
    InParanoidiO75712.
    KOiK07622.
    OMAiHTLWHGF.
    OrthoDBiEOG7P2XSS.
    PhylomeDBiO75712.
    TreeFamiTF329606.

    Family and domain databases

    InterProiIPR000500. Connexin.
    IPR002269. Connexin31.
    IPR019570. Connexin_CCC.
    IPR017990. Connexin_CS.
    IPR013092. Connexin_N.
    [Graphical view]
    PANTHERiPTHR11984. PTHR11984. 1 hit.
    PTHR11984:SF29. PTHR11984:SF29. 1 hit.
    PfamiPF00029. Connexin. 1 hit.
    PF10582. Connexin_CCC. 1 hit.
    [Graphical view]
    PRINTSiPR00206. CONNEXIN.
    PR01140. CONNEXINB3.
    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.

    O75712-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDWKTLQALL SGVNKYSTAF GRIWLSVVFV FRVLVYVVAA ERVWGDEQKD    50
    FDCNTKQPGC TNVCYDNYFP ISNIRLWALQ LIFVTCPSLL VILHVAYREE 100
    RERRHRQKHG DQCAKLYDNA GKKHGGLWWT YLFSLIFKLI IEFLFLYLLH 150
    TLWHGFNMPR LVQCANVAPC PNIVDCYIAR PTEKKIFTYF MVGASAVCIV 200
    LTICELCYLI CHRVLRGLHK DKPRGGCSPS SSASRASTCR CHHKLVEAGE 250
    VDPDPGNNKL QASAPNLTPI 270
    Length:270
    Mass (Da):30,818
    Last modified:November 1, 1998 - v1
    Checksum:iE46D36E5835646A4
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121G → D in EKV. 1 Publication
    VAR_002147
    Natural varianti12 – 121G → R in EKV. 1 Publication
    VAR_002148
    Natural varianti32 – 321R → W.4 Publications
    Corresponds to variant rs1805063 [ dbSNP | Ensembl ].
    VAR_011978
    Natural varianti42 – 421R → P in EKV. 2 Publications
    VAR_015085
    Natural varianti86 – 861C → S in EKV. 1 Publication
    VAR_002149
    Natural varianti137 – 1371F → L in EKV. 1 Publication
    VAR_015086
    Natural varianti141 – 1411I → V in DFNA2B.
    VAR_015087
    Natural varianti183 – 1831E → K in DFNA2B. 1 Publication
    Corresponds to variant rs74315318 [ dbSNP | Ensembl ].
    VAR_002150
    Natural varianti200 – 2001V → I.2 Publications
    Corresponds to variant rs61734064 [ dbSNP | Ensembl ].
    VAR_022423

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ004856 Genomic DNA. Translation: CAA06165.1.
    AF052692 mRNA. Translation: AAD11816.1.
    AF099730 Genomic DNA. Translation: AAC95471.1.
    AK312890 mRNA. Translation: BAG35737.1.
    AL121988 Genomic DNA. Translation: CAB90269.1.
    CH471059 Genomic DNA. Translation: EAX07442.1.
    BC012918 mRNA. Translation: AAH12918.1.
    BC110640 mRNA. Translation: AAI10641.1.
    CCDSiCCDS384.1.
    PIRiJE0274.
    RefSeqiNP_001005752.1. NM_001005752.1.
    NP_076872.1. NM_024009.2.
    UniGeneiHs.522561.

    Genome annotation databases

    EnsembliENST00000373362; ENSP00000362460; ENSG00000188910.
    ENST00000373366; ENSP00000362464; ENSG00000188910.
    GeneIDi2707.
    KEGGihsa:2707.
    UCSCiuc001bxx.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Connexin-deafness homepage
    Hereditary hearing loss homepage

    Gene page

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ004856 Genomic DNA. Translation: CAA06165.1 .
    AF052692 mRNA. Translation: AAD11816.1 .
    AF099730 Genomic DNA. Translation: AAC95471.1 .
    AK312890 mRNA. Translation: BAG35737.1 .
    AL121988 Genomic DNA. Translation: CAB90269.1 .
    CH471059 Genomic DNA. Translation: EAX07442.1 .
    BC012918 mRNA. Translation: AAH12918.1 .
    BC110640 mRNA. Translation: AAI10641.1 .
    CCDSi CCDS384.1.
    PIRi JE0274.
    RefSeqi NP_001005752.1. NM_001005752.1.
    NP_076872.1. NM_024009.2.
    UniGenei Hs.522561.

    3D structure databases

    ProteinModelPortali O75712.
    SMRi O75712. Positions 2-210.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108973. 3 interactions.
    IntActi O75712. 1 interaction.
    STRINGi 9606.ENSP00000362460.

    Chemistry

    GuidetoPHARMACOLOGYi 720.

    PTM databases

    PhosphoSitei O75712.

    Proteomic databases

    MaxQBi O75712.
    PaxDbi O75712.
    PRIDEi O75712.

    Protocols and materials databases

    DNASUi 2707.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373362 ; ENSP00000362460 ; ENSG00000188910 .
    ENST00000373366 ; ENSP00000362464 ; ENSG00000188910 .
    GeneIDi 2707.
    KEGGi hsa:2707.
    UCSCi uc001bxx.3. human.

    Organism-specific databases

    CTDi 2707.
    GeneCardsi GC01P035246.
    GeneReviewsi GJB3.
    H-InvDB HIX0000402.
    HGNCi HGNC:4285. GJB3.
    MIMi 133200. phenotype.
    603324. gene+phenotype.
    612644. phenotype.
    neXtProti NX_O75712.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    317. Erythrokeratodermia variabilis.
    139512. Neuropathy with hearing impairment.
    495. Transgrediens et progrediens palmoplantar keratoderma.
    PharmGKBi PA28696.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39157.
    HOGENOMi HOG000231127.
    HOVERGENi HBG009576.
    InParanoidi O75712.
    KOi K07622.
    OMAi HTLWHGF.
    OrthoDBi EOG7P2XSS.
    PhylomeDBi O75712.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.

    Miscellaneous databases

    ChiTaRSi GJB3. human.
    GeneWikii GJB3.
    GenomeRNAii 2707.
    NextBioi 10702.
    PROi O75712.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75712.
    Bgeei O75712.
    CleanExi HS_GJB3.
    Genevestigatori O75712.

    Family and domain databases

    InterProi IPR000500. Connexin.
    IPR002269. Connexin31.
    IPR019570. Connexin_CCC.
    IPR017990. Connexin_CS.
    IPR013092. Connexin_N.
    [Graphical view ]
    PANTHERi PTHR11984. PTHR11984. 1 hit.
    PTHR11984:SF29. PTHR11984:SF29. 1 hit.
    Pfami PF00029. Connexin. 1 hit.
    PF10582. Connexin_CCC. 1 hit.
    [Graphical view ]
    PRINTSi PR00206. CONNEXIN.
    PR01140. CONNEXINB3.
    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. "Human gap junction protein connexin31: molecular cloning and expression analysis."
      Wenzel K., Manthey D., Willecke K., Grzeschik K.-H., Traub O.
      Biochem. Biophys. Res. Commun. 248:910-915(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Placenta.
    2. "Molecular cloning of human connexin 31 and 31.1 genes."
      Xia J.-H., Pan Q., Liu C.-Y., Zheng D., Xie W.
      Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis."
      Richard G., Smith L.E., Bailey R.A., Itin P., Hohl D., Epstein E.H. Jr., DiGiovanna J.J., Compton J.G., Bale S.J.
      Nat. Genet. 20:366-369(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS EKV ASP-12; ARG-12 AND SER-86.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Cerebellum.
    5. "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].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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], VARIANT TRP-32.
      Tissue: Skin and Urinary bladder.
    8. "Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment."
      Xia J.-H., Liu C.-Y., Tang B.S., Pan Q., Huang L., Dai H.P., Zhang B.R., Xie W., Hu D.X., Zheng D., Shi X.L., Wang D.A., Xia K., Yu K.P., Liao X.D., Feng Y., Yang Y.F., Xiao J.Y., Xie D.H., Huang J.Z.
      Nat. Genet. 20:370-373(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA2B LYS-183.
    9. "Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis."
      Wilgoss A., Leigh I.M., Barnes M.R., Dopping-Hepenstal P., Eady R.A.J., Walter J.M., Kennedy C.T., Kelsell D.P.
      J. Invest. Dermatol. 113:1119-1122(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EKV PRO-42.
    10. "Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family."
      Kelsell D.P., Wilgoss A.L., Richard G., Stevens H.P., Munro C.S., Leigh I.M.
      Eur. J. Hum. Genet. 8:141-144(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TRP-32.
    11. "The spectrum of mutations in erythrokeratodermias -- novel and de novo mutations in GJB3."
      Richard G., Brown N., Smith L.E., Terrinoni A., Melino G., Mackie R.M., Bale S.J., Uitto J.
      Hum. Genet. 106:321-329(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EKV PRO-42 AND LEU-137.
    12. "Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene."
      Lopez-Bigas N., Rabionet R., Martinez E., Banchs I., Volpini V., Vance J.M., Arbones M.L., Estivill X.
      Hum. Mutat. 15:481-482(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TRP-32 AND ILE-200.
    13. "Connexin mutations in Brazilian patients with skin disorders with or without hearing loss."
      Alexandrino F., de Oliveira C.A., Magalhaes R.F., Florence M.E., de Souza E.M., Sartorato E.L.
      Am. J. Med. Genet. A 149:681-684(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TRP-32 AND ILE-200.

    Entry informationi

    Entry nameiCXB3_HUMAN
    AccessioniPrimary (citable) accession number: O75712
    Secondary accession number(s): B2R790, Q2TAZ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 139 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 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