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O95452

- CXB6_HUMAN

UniProt

O95452 - CXB6_HUMAN

Protein

Gap junction beta-6 protein

Gene

GJB6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 2 (19 Sep 2003)
      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 - Biological processi

    1. apoptotic process Source: Ensembl
    2. cell communication Source: InterPro
    3. ear morphogenesis Source: Ensembl
    4. inner ear development Source: Ensembl
    5. negative regulation of cell proliferation Source: Ensembl
    6. sensory perception of sound Source: ProtInc

    Keywords - Biological processi

    Hearing

    Enzyme and pathway databases

    ReactomeiREACT_9509. Gap junction assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction beta-6 protein
    Alternative name(s):
    Connexin-30
    Short name:
    Cx30
    Gene namesi
    Name:GJB6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:4288. GJB6.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. connexon complex Source: InterPro
    3. cytosol Source: Ensembl
    4. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111G → R in ECTD2. 1 Publication
    VAR_015696
    Natural varianti37 – 371V → E in ECTD2. 1 Publication
    VAR_016838
    Natural varianti88 – 881A → V in ECTD2. 1 Publication
    Corresponds to variant rs28937872 [ dbSNP | Ensembl ].
    VAR_015697
    Deafness, autosomal recessive, 1B (DFNB1B) [MIM:612645]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]: A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51T → M in DFNA3B. 1 Publication
    VAR_008711

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi129500. phenotype.
    612643. phenotype.
    612645. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    189. Hidrotic ectodermal dysplasia.
    477. KID syndrome.
    PharmGKBiPA28699.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 261261Gap junction beta-6 proteinPRO_0000057871Add
    BLAST

    Proteomic databases

    PaxDbiO95452.
    PRIDEiO95452.

    Expressioni

    Gene expression databases

    BgeeiO95452.
    CleanExiHS_GJB6.
    GenevestigatoriO95452.

    Organism-specific databases

    HPAiHPA014846.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi116018. 1 interaction.
    STRINGi9606.ENSP00000241124.

    Structurei

    3D structure databases

    ProteinModelPortaliO95452.
    SMRiO95452. Positions 2-216.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2222CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini46 – 7530ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini99 – 13133CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini155 – 19238ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini216 – 26146CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei23 – 4523HelicalSequence AnalysisAdd
    BLAST
    Transmembranei76 – 9823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei132 – 15423HelicalSequence AnalysisAdd
    BLAST
    Transmembranei193 – 21523HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG39645.
    HOGENOMiHOG000231127.
    HOVERGENiHBG009576.
    InParanoidiO95452.
    KOiK07625.
    OMAiQTQRNHP.
    OrthoDBiEOG7P2XSS.
    PhylomeDBiO95452.
    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.

    O95452-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED    50
    FVCNTLQPGC KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH 100
    ETTRKFRRGE KRNDFKDIED IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF 150
    MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC FISRPTEKTV FTIFMISASV 200
    ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK QNEMNELISD 250
    SGQNAITGFP S 261
    Length:261
    Mass (Da):30,387
    Last modified:September 19, 2003 - v2
    Checksum:i394A2D97E08EEB43
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti11 – 111G → E in AAV67951. (PubMed:15792634)Curated
    Sequence conflicti124 – 1241Q → H in CAA06611. (PubMed:10471490)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51T → M in DFNA3B. 1 Publication
    VAR_008711
    Natural varianti11 – 111G → R in ECTD2. 1 Publication
    VAR_015696
    Natural varianti37 – 371V → E in ECTD2. 1 Publication
    VAR_016838
    Natural varianti59 – 591G → R Found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey syndromes. 1 Publication
    VAR_057960
    Natural varianti88 – 881A → V in ECTD2. 1 Publication
    Corresponds to variant rs28937872 [ dbSNP | Ensembl ].
    VAR_015697
    Natural varianti139 – 1391S → G.1 Publication
    VAR_022424
    Natural varianti159 – 1591N → S.
    Corresponds to variant rs35277762 [ dbSNP | Ensembl ].
    VAR_048825
    Natural varianti199 – 1991S → T.1 Publication
    Corresponds to variant rs111033338 [ dbSNP | Ensembl ].
    VAR_022425

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ005585 Genomic DNA. Translation: CAA06611.1.
    AY297110 mRNA. Translation: AAP51162.1.
    AK289592 mRNA. Translation: BAF82281.1.
    AK075247 mRNA. Translation: BAG52094.1.
    AL355984 Genomic DNA. Translation: CAI14832.1.
    CH471075 Genomic DNA. Translation: EAX08254.1.
    BC038934 mRNA. Translation: AAH38934.1.
    AY789474 mRNA. Translation: AAV67951.1.
    AY789475 mRNA. Translation: AAV67952.1.
    AY789476 mRNA. Translation: AAV67953.1.
    CCDSiCCDS9291.1.
    RefSeqiNP_001103689.1. NM_001110219.2.
    NP_001103690.1. NM_001110220.2.
    NP_001103691.1. NM_001110221.2.
    NP_006774.2. NM_006783.4.
    UniGeneiHs.511757.

    Genome annotation databases

    EnsembliENST00000241124; ENSP00000241124; ENSG00000121742.
    ENST00000356192; ENSP00000348521; ENSG00000121742.
    ENST00000400065; ENSP00000382938; ENSG00000121742.
    ENST00000400066; ENSP00000382939; ENSG00000121742.
    GeneIDi10804.
    KEGGihsa:10804.
    UCSCiuc001umz.4. 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
    AJ005585 Genomic DNA. Translation: CAA06611.1 .
    AY297110 mRNA. Translation: AAP51162.1 .
    AK289592 mRNA. Translation: BAF82281.1 .
    AK075247 mRNA. Translation: BAG52094.1 .
    AL355984 Genomic DNA. Translation: CAI14832.1 .
    CH471075 Genomic DNA. Translation: EAX08254.1 .
    BC038934 mRNA. Translation: AAH38934.1 .
    AY789474 mRNA. Translation: AAV67951.1 .
    AY789475 mRNA. Translation: AAV67952.1 .
    AY789476 mRNA. Translation: AAV67953.1 .
    CCDSi CCDS9291.1.
    RefSeqi NP_001103689.1. NM_001110219.2.
    NP_001103690.1. NM_001110220.2.
    NP_001103691.1. NM_001110221.2.
    NP_006774.2. NM_006783.4.
    UniGenei Hs.511757.

    3D structure databases

    ProteinModelPortali O95452.
    SMRi O95452. Positions 2-216.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116018. 1 interaction.
    STRINGi 9606.ENSP00000241124.

    Chemistry

    GuidetoPHARMACOLOGYi 717.

    Proteomic databases

    PaxDbi O95452.
    PRIDEi O95452.

    Protocols and materials databases

    DNASUi 10804.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000241124 ; ENSP00000241124 ; ENSG00000121742 .
    ENST00000356192 ; ENSP00000348521 ; ENSG00000121742 .
    ENST00000400065 ; ENSP00000382938 ; ENSG00000121742 .
    ENST00000400066 ; ENSP00000382939 ; ENSG00000121742 .
    GeneIDi 10804.
    KEGGi hsa:10804.
    UCSCi uc001umz.4. human.

    Organism-specific databases

    CTDi 10804.
    GeneCardsi GC13M020796.
    GeneReviewsi GJB6.
    HGNCi HGNC:4288. GJB6.
    HPAi HPA014846.
    MIMi 129500. phenotype.
    604418. gene.
    612643. phenotype.
    612645. phenotype.
    neXtProti NX_O95452.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    189. Hidrotic ectodermal dysplasia.
    477. KID syndrome.
    PharmGKBi PA28699.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39645.
    HOGENOMi HOG000231127.
    HOVERGENi HBG009576.
    InParanoidi O95452.
    KOi K07625.
    OMAi QTQRNHP.
    OrthoDBi EOG7P2XSS.
    PhylomeDBi O95452.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.

    Miscellaneous databases

    GeneWikii GJB6.
    GenomeRNAii 10804.
    NextBioi 41041.
    PROi O95452.
    SOURCEi Search...

    Gene expression databases

    Bgeei O95452.
    CleanExi HS_GJB6.
    Genevestigatori O95452.

    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. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT DFNA3B MET-5.
    2. "Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12."
      Kelley P.M., Abe S., Askew J.W., Smith S.D., Usami S., Kimberling W.J.
      Genomics 62:172-176(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-139 AND THR-199.
    3. "Human connexin30, updated ORF."
      Enriquez A.D., Scherer S.S.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Corpus callosum.
    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: Brain cortex.
    5. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Thyroid.
    6. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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.
    9. "Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30."
      Essenfelder G.M., Larderet G., Waksman G., Lamartine J.
      Gene 350:33-40(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-40, GENE STRUCTURE.
      Tissue: Hair follicle.
    10. Cited for: INVOLVEMENT IN DFNB1B.
    11. Cited for: INVOLVEMENT IN DFNB1B.
    12. Cited for: VARIANTS ECTD2 ARG-11 AND VAL-88.
    13. "A novel connexin 30 mutation in Clouston syndrome."
      Smith F.J., Morley S.M., McLean W.H.I.
      J. Invest. Dermatol. 118:530-532(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ECTD2 GLU-37.
    14. "Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss."
      Nemoto-Hasebe I., Akiyama M., Kudo S., Ishiko A., Tanaka A., Arita K., Shimizu H.
      Br. J. Dermatol. 161:452-455(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-59.

    Entry informationi

    Entry nameiCXB6_HUMAN
    AccessioniPrimary (citable) accession number: O95452
    Secondary accession number(s): B3KQN2
    , Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: September 19, 2003
    Last modified: October 1, 2014
    This is version 128 of the entry and version 2 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 13
      Human chromosome 13: 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