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P22223

- CADH3_HUMAN

UniProt

P22223 - CADH3_HUMAN

Protein

Cadherin-3

Gene

CDH3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 149 (01 Oct 2014)
      Sequence version 2 (01 May 2007)
      Previous versions | rss
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    Functioni

    Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    GO - Biological processi

    1. adherens junction organization Source: Reactome
    2. canonical Wnt signaling pathway Source: UniProt
    3. cell adhesion Source: ProtInc
    4. cell-cell junction organization Source: Reactome
    5. cell junction assembly Source: Reactome
    6. hair cycle process Source: UniProt
    7. homophilic cell adhesion Source: InterPro
    8. keratinization Source: UniProt
    9. negative regulation of catagen Source: UniProt
    10. negative regulation of transforming growth factor beta2 production Source: UniProt
    11. positive regulation of gene expression Source: UniProt
    12. positive regulation of insulin-like growth factor receptor signaling pathway Source: UniProt
    13. positive regulation of keratinocyte proliferation Source: UniProt
    14. positive regulation of melanin biosynthetic process Source: UniProt
    15. positive regulation of melanosome transport Source: UniProt
    16. positive regulation of monophenol monooxygenase activity Source: UniProt
    17. regulation of hair cycle by canonical Wnt signaling pathway Source: UniProt
    18. response to drug Source: Ensembl
    19. retina homeostasis Source: UniProt
    20. single organismal cell-cell adhesion Source: Ensembl
    21. visual perception Source: UniProtKB-KW
    22. wound healing Source: Ensembl

    Keywords - Biological processi

    Cell adhesion, Sensory transduction, Vision

    Keywords - Ligandi

    Calcium, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_19195. Adherens junctions interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cadherin-3
    Alternative name(s):
    Placental cadherin
    Short name:
    P-cadherin
    Gene namesi
    Name:CDH3
    Synonyms:CDHP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:1762. CDH3.

    Subcellular locationi

    GO - Cellular componenti

    1. cell-cell adherens junction Source: Ensembl
    2. cytoplasm Source: Ensembl
    3. integral component of membrane Source: UniProtKB-KW
    4. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553]: A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti503 – 5031R → H in HJMD. 1 Publication
    VAR_015422
    Ectodermal dysplasia, with ectrodactyly and macular dystrophy (EEM) [MIM:225280]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti322 – 3221N → I in EEM. 1 Publication
    VAR_033010

    Keywords - Diseasei

    Disease mutation, Ectodermal dysplasia, Hypotrichosis

    Organism-specific databases

    MIMi225280. phenotype.
    601553. phenotype.
    Orphaneti1897. EEM syndrome.
    1573. Hypotrichosis with juvenile macular degeneration.
    PharmGKBiPA26299.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Propeptidei25 – 10783PRO_0000003745Add
    BLAST
    Chaini108 – 829722Cadherin-3PRO_0000003746Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi200 – 2001N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi566 – 5661N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Cleavage on pair of basic residues, Glycoprotein

    Proteomic databases

    MaxQBiP22223.
    PaxDbiP22223.
    PRIDEiP22223.

    PTM databases

    PhosphoSiteiP22223.

    Expressioni

    Tissue specificityi

    Expressed in some normal epithelial tissues and in some carcinoma cell lines.1 Publication

    Gene expression databases

    ArrayExpressiP22223.
    BgeeiP22223.
    CleanExiHS_CDH3.
    GenevestigatoriP22223.

    Organism-specific databases

    HPAiCAB002487.
    HPA001767.

    Interactioni

    Subunit structurei

    Interacts with CDCP1 and CTNNB1.2 Publications

    Protein-protein interaction databases

    BioGridi107436. 7 interactions.
    IntActiP22223. 5 interactions.
    STRINGi9606.ENSP00000264012.

    Structurei

    3D structure databases

    ProteinModelPortaliP22223.
    SMRiP22223. Positions 108-647, 729-822.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini108 – 654547ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini678 – 829152CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei655 – 67723HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini108 – 215108Cadherin 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini216 – 328113Cadherin 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini329 – 440112Cadherin 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini441 – 546106Cadherin 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini547 – 650104Cadherin 5PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi785 – 80016Ser-richAdd
    BLAST

    Domaini

    Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.By similarity

    Sequence similaritiesi

    Contains 5 cadherin domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG328838.
    HOGENOMiHOG000231254.
    HOVERGENiHBG106438.
    InParanoidiP22223.
    KOiK06796.
    OMAiKQDTYDV.
    OrthoDBiEOG7PS1DS.
    PhylomeDBiP22223.
    TreeFamiTF316817.

    Family and domain databases

    Gene3Di2.60.40.60. 5 hits.
    4.10.900.10. 1 hit.
    InterProiIPR002126. Cadherin.
    IPR015919. Cadherin-like.
    IPR020894. Cadherin_CS.
    IPR000233. Cadherin_cytoplasmic-dom.
    IPR027397. Catenin_binding_dom.
    [Graphical view]
    PfamiPF00028. Cadherin. 4 hits.
    PF01049. Cadherin_C. 1 hit.
    [Graphical view]
    PRINTSiPR00205. CADHERIN.
    SMARTiSM00112. CA. 4 hits.
    [Graphical view]
    SUPFAMiSSF49313. SSF49313. 5 hits.
    PROSITEiPS00232. CADHERIN_1. 3 hits.
    PS50268. CADHERIN_2. 5 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P22223-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGLPRGPLAS LLLLQVCWLQ CAASEPCRAV FREAEVTLEA GGAEQEPGQA    50
    LGKVFMGCPG QEPALFSTDN DDFTVRNGET VQERRSLKER NPLKIFPSKR 100
    ILRRHKRDWV VAPISVPENG KGPFPQRLNQ LKSNKDRDTK IFYSITGPGA 150
    DSPPEGVFAV EKETGWLLLN KPLDREEIAK YELFGHAVSE NGASVEDPMN 200
    ISIIVTDQND HKPKFTQDTF RGSVLEGVLP GTSVMQVTAT DEDDAIYTYN 250
    GVVAYSIHSQ EPKDPHDLMF TIHRSTGTIS VISSGLDREK VPEYTLTIQA 300
    TDMDGDGSTT TAVAVVEILD ANDNAPMFDP QKYEAHVPEN AVGHEVQRLT 350
    VTDLDAPNSP AWRATYLIMG GDDGDHFTIT THPESNQGIL TTRKGLDFEA 400
    KNQHTLYVEV TNEAPFVLKL PTSTATIVVH VEDVNEAPVF VPPSKVVEVQ 450
    EGIPTGEPVC VYTAEDPDKE NQKISYRILR DPAGWLAMDP DSGQVTAVGT 500
    LDREDEQFVR NNIYEVMVLA MDNGSPPTTG TGTLLLTLID VNDHGPVPEP 550
    RQITICNQSP VRQVLNITDK DLSPHTSPFQ AQLTDDSDIY WTAEVNEEGD 600
    TVVLSLKKFL KQDTYDVHLS LSDHGNKEQL TVIRATVCDC HGHVETCPGP 650
    WKGGFILPVL GAVLALLFLL LVLLLLVRKK RKIKEPLLLP EDDTRDNVFY 700
    YGEEGGGEED QDYDITQLHR GLEARPEVVL RNDVAPTIIP TPMYRPRPAN 750
    PDEIGNFIIE NLKAANTDPT APPYDTLLVF DYEGSGSDAA SLSSLTSSAS 800
    DQDQDYDYLN EWGSRFKKLA DMYGGGEDD 829
    Length:829
    Mass (Da):91,418
    Last modified:May 1, 2007 - v2
    Checksum:i7C03C8536CD98C7B
    GO
    Isoform 2 (identifier: P22223-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         761-829: NLKAANTDPT...ADMYGGGEDD → GRGERGSQRGNGGLQLARGRTRRS

    Note: No experimental confirmation available.

    Show »
    Length:784
    Mass (Da):86,552
    Checksum:i0BE52C6E9C281154
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti237 – 2371V → M.1 Publication
    Corresponds to variant rs17854171 [ dbSNP | Ensembl ].
    VAR_031929
    Natural varianti322 – 3221N → I in EEM. 1 Publication
    VAR_033010
    Natural varianti477 – 4771R → H.
    Corresponds to variant rs34494880 [ dbSNP | Ensembl ].
    VAR_031930
    Natural varianti503 – 5031R → H in HJMD. 1 Publication
    VAR_015422
    Natural varianti563 – 5631Q → H.4 Publications
    Corresponds to variant rs1126933 [ dbSNP | Ensembl ].
    VAR_031931

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei761 – 82969NLKAA…GGEDD → GRGERGSQRGNGGLQLARGR TRRS in isoform 2. 1 PublicationVSP_024820Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X63629 mRNA. Translation: CAA45177.1.
    AK312554 mRNA. Translation: BAG35451.1.
    CH471092 Genomic DNA. Translation: EAW83238.1.
    BC014462 mRNA. Translation: AAH14462.1.
    BC041846 mRNA. Translation: AAH41846.1.
    X95824 Genomic DNA. Translation: CAA65093.1.
    CCDSiCCDS10868.1. [P22223-1]
    PIRiA33659. IJHUCP.
    RefSeqiNP_001784.2. NM_001793.4. [P22223-1]
    UniGeneiHs.191842.

    Genome annotation databases

    EnsembliENST00000264012; ENSP00000264012; ENSG00000062038. [P22223-1]
    ENST00000429102; ENSP00000398485; ENSG00000062038. [P22223-2]
    GeneIDi1001.
    KEGGihsa:1001.
    UCSCiuc002ewf.2. human. [P22223-1]

    Polymorphism databases

    DMDMi146345382.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the CDH3 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X63629 mRNA. Translation: CAA45177.1 .
    AK312554 mRNA. Translation: BAG35451.1 .
    CH471092 Genomic DNA. Translation: EAW83238.1 .
    BC014462 mRNA. Translation: AAH14462.1 .
    BC041846 mRNA. Translation: AAH41846.1 .
    X95824 Genomic DNA. Translation: CAA65093.1 .
    CCDSi CCDS10868.1. [P22223-1 ]
    PIRi A33659. IJHUCP.
    RefSeqi NP_001784.2. NM_001793.4. [P22223-1 ]
    UniGenei Hs.191842.

    3D structure databases

    ProteinModelPortali P22223.
    SMRi P22223. Positions 108-647, 729-822.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107436. 7 interactions.
    IntActi P22223. 5 interactions.
    STRINGi 9606.ENSP00000264012.

    PTM databases

    PhosphoSitei P22223.

    Polymorphism databases

    DMDMi 146345382.

    Proteomic databases

    MaxQBi P22223.
    PaxDbi P22223.
    PRIDEi P22223.

    Protocols and materials databases

    DNASUi 1001.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264012 ; ENSP00000264012 ; ENSG00000062038 . [P22223-1 ]
    ENST00000429102 ; ENSP00000398485 ; ENSG00000062038 . [P22223-2 ]
    GeneIDi 1001.
    KEGGi hsa:1001.
    UCSCi uc002ewf.2. human. [P22223-1 ]

    Organism-specific databases

    CTDi 1001.
    GeneCardsi GC16P068679.
    H-InvDB HIX0026973.
    HGNCi HGNC:1762. CDH3.
    HPAi CAB002487.
    HPA001767.
    MIMi 114021. gene.
    225280. phenotype.
    601553. phenotype.
    neXtProti NX_P22223.
    Orphaneti 1897. EEM syndrome.
    1573. Hypotrichosis with juvenile macular degeneration.
    PharmGKBi PA26299.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG328838.
    HOGENOMi HOG000231254.
    HOVERGENi HBG106438.
    InParanoidi P22223.
    KOi K06796.
    OMAi KQDTYDV.
    OrthoDBi EOG7PS1DS.
    PhylomeDBi P22223.
    TreeFami TF316817.

    Enzyme and pathway databases

    Reactomei REACT_19195. Adherens junctions interactions.

    Miscellaneous databases

    ChiTaRSi CDH3. human.
    GeneWikii CDH3_(gene).
    GenomeRNAii 1001.
    NextBioi 4208.
    PROi P22223.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P22223.
    Bgeei P22223.
    CleanExi HS_CDH3.
    Genevestigatori P22223.

    Family and domain databases

    Gene3Di 2.60.40.60. 5 hits.
    4.10.900.10. 1 hit.
    InterProi IPR002126. Cadherin.
    IPR015919. Cadherin-like.
    IPR020894. Cadherin_CS.
    IPR000233. Cadherin_cytoplasmic-dom.
    IPR027397. Catenin_binding_dom.
    [Graphical view ]
    Pfami PF00028. Cadherin. 4 hits.
    PF01049. Cadherin_C. 1 hit.
    [Graphical view ]
    PRINTSi PR00205. CADHERIN.
    SMARTi SM00112. CA. 4 hits.
    [Graphical view ]
    SUPFAMi SSF49313. SSF49313. 5 hits.
    PROSITEi PS00232. CADHERIN_1. 3 hits.
    PS50268. CADHERIN_2. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of a human Ca2+-dependent cell-cell adhesion molecule homologous to mouse placental cadherin: its low expression in human placental tissues."
      Shimoyama Y., Yoshida T., Terada M., Shimosato Y., Abe O., Hirohashi S.
      J. Cell Biol. 109:1787-1794(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT HIS-563.
    2. "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] (ISOFORM 1), VARIANT HIS-563.
      Tissue: Tongue.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT HIS-563.
    4. "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] (ISOFORMS 1 AND 2), VARIANT MET-237.
      Tissue: Skin and Testis.
    5. "P-cadherin is a basal cell-specific epithelial marker that is not expressed in prostate cancer."
      Jarrard D.F., Paul R., Van Bokhoven A., Nguyen S.H., Bova G.S., Wheelock M.J., Johnson K.R., Schalken J., Bussemakers M., Isaacs W.B.
      Clin. Cancer Res. 3:2121-2128(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-15.
      Tissue: Fetal brain.
    6. "Cadherin cell-adhesion molecules in human epithelial tissues and carcinomas."
      Shimoyama Y., Hirohashi S., Hirano S., Noguchi M., Shimosato Y., Takeichi M., Abe O.
      Cancer Res. 49:2128-2133(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    7. "Adhesion signaling by a novel mitotic substrate of src kinases."
      Bhatt A.S., Erdjument-Bromage H., Tempst P., Craik C.S., Moasser M.M.
      Oncogene 24:5333-5343(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CDCP1.
    8. "Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin."
      Sprecher E., Bergman R., Richard G., Lurie R., Shalev S., Petronius D., Shalata A., Anbinder Y., Leibu R., Perlman I., Cohen N., Szargel R.
      Nat. Genet. 29:134-136(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN HJMD.
    9. "Crystal structure of a beta-catenin/BCL9/Tcf4 complex."
      Sampietro J., Dahlberg C.L., Cho U.S., Hinds T.R., Kimelman D., Xu W.
      Mol. Cell 24:293-300(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CTNNB1.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy."
      Indelman M., Bergman R., Lurie R., Richard G., Miller B., Petronius D., Ciubutaro D., Leibu R., Sprecher E.
      J. Invest. Dermatol. 119:1210-1213(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HJMD HIS-503.
    12. "Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)."
      Kjaer K.W., Hansen L., Schwabe G.C., Marques-de-Faria A.P., Eiberg H., Mundlos S., Tommerup N., Rosenberg T.
      J. Med. Genet. 42:292-298(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EEM ILE-322, VARIANT HIS-563.

    Entry informationi

    Entry nameiCADH3_HUMAN
    AccessioniPrimary (citable) accession number: P22223
    Secondary accession number(s): B2R6F4, Q05DI6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1991
    Last sequence update: May 1, 2007
    Last modified: October 1, 2014
    This is version 149 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 16
      Human chromosome 16: 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