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Q9Y6C5

- PTC2_HUMAN

UniProt

Q9Y6C5 - PTC2_HUMAN

Protein

Protein patched homolog 2

Gene

PTCH2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 2 (24 Jan 2001)
      Previous versions | rss
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    Functioni

    May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).

    GO - Molecular functioni

    1. hedgehog family protein binding Source: BHF-UCL
    2. hedgehog receptor activity Source: BHF-UCL
    3. smoothened binding Source: BHF-UCL

    GO - Biological processi

    1. epidermis development Source: Ensembl
    2. hair cycle Source: Ensembl
    3. negative regulation of smoothened signaling pathway Source: BHF-UCL
    4. signal transduction Source: GOC

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_18372. Class B/2 (Secretin family receptors).
    SignaLinkiQ9Y6C5.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein patched homolog 2
    Short name:
    PTC2
    Gene namesi
    Name:PTCH2
    ORF Names:UNQ560/PRO1121/PRO57079
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:9586. PTCH2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi155255. phenotype.
    605462. phenotype.
    Orphaneti141276. Commissural facial cleft.
    PharmGKBiPA33938.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12031203Protein patched homolog 2PRO_0000205970Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi370 – 3701N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi812 – 8121N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9Y6C5.
    PRIDEiQ9Y6C5.

    PTM databases

    PhosphoSiteiQ9Y6C5.

    Expressioni

    Gene expression databases

    BgeeiQ9Y6C5.
    CleanExiHS_PTCH2.
    GenevestigatoriQ9Y6C5.

    Organism-specific databases

    HPAiHPA046839.

    Interactioni

    Protein-protein interaction databases

    BioGridi114195. 3 interactions.
    IntActiQ9Y6C5. 1 interaction.
    STRINGi9606.ENSP00000361266.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y6C5.
    SMRiQ9Y6C5. Positions 968-1115.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5757CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini79 – 392314ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini414 – 42815CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini450 – 4578ExtracellularSequence Analysis
    Topological domaini479 – 50123CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini523 – 5319ExtracellularSequence Analysis
    Topological domaini553 – 686134CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini708 – 963256ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini985 – 9917CytoplasmicSequence Analysis
    Topological domaini1013 – 10131ExtracellularSequence Analysis
    Topological domaini1035 – 106430CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1086 – 10938ExtracellularSequence Analysis
    Topological domaini1115 – 120389CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei58 – 7821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei393 – 41321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei429 – 44921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei458 – 47821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei502 – 52221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei532 – 55221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei687 – 70721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei964 – 98421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei992 – 101221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1014 – 103421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1065 – 108521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1094 – 111421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini394 – 552159SSDPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the patched family.Curated
    Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG313603.
    HOGENOMiHOG000231331.
    HOVERGENiHBG003801.
    InParanoidiQ9Y6C5.
    KOiK11101.
    OMAiHCEASSQ.
    OrthoDBiEOG7HMS06.
    PhylomeDBiQ9Y6C5.
    TreeFamiTF106489.

    Family and domain databases

    InterProiIPR003392. Patched.
    IPR000731. SSD.
    IPR004766. TM_rcpt_patched.
    [Graphical view]
    PfamiPF02460. Patched. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR00918. 2A060602. 1 hit.
    PROSITEiPS50156. SSD. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y6C5-1) [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

    MTRSPPLREL PPSYTPPART AAPQILAGSL KAPLWLRAYF QGLLFSLGCG     50
    IQRHCGKVLF LGLLAFGALA LGLRMAIIET NLEQLWVEVG SRVSQELHYT 100
    KEKLGEEAAY TSQMLIQTAR QEGENILTPE ALGLHLQAAL TASKVQVSLY 150
    GKSWDLNKIC YKSGVPLIEN GMIERMIEKL FPCVILTPLD CFWEGAKLQG 200
    GSAYLPGRPD IQWTNLDPEQ LLEELGPFAS LEGFRELLDK AQVGQAYVGR 250
    PCLHPDDLHC PPSAPNHHSR QAPNVAHELS GGCHGFSHKF MHWQEELLLG 300
    GMARDPQGEL LRAEALQSTF LLMSPRQLYE HFRGDYQTHD IGWSEEQAST 350
    VLQAWQRRFV QLAQEALPEN ASQQIHAFSS TTLDDILHAF SEVSAARVVG 400
    GYLLMLAYAC VTMLRWDCAQ SQGSVGLAGV LLVALAVASG LGLCALLGIT 450
    FNAATTQVLP FLALGIGVDD VFLLAHAFTE ALPGTPLQER MGECLQRTGT 500
    SVVLTSINNM AAFLMAALVP IPALRAFSLQ AAIVVGCTFV AVMLVFPAIL 550
    SLDLRRRHCQ RLDVLCCFSS PCSAQVIQIL PQELGDGTVP VGIAHLTATV 600
    QAFTHCEASS QHVVTILPPQ AHLVPPPSDP LGSELFSPGG STRDLLGQEE 650
    ETRQKAACKS LPCARWNLAH FARYQFAPLL LQSHAKAIVL VLFGALLGLS 700
    LYGATLVQDG LALTDVVPRG TKEHAFLSAQ LRYFSLYEVA LVTQGGFDYA 750
    HSQRALFDLH QRFSSLKAVL PPPATQAPRT WLHYYRNWLQ GIQAAFDQDW 800
    ASGRITRHSY RNGSEDGALA YKLLIQTGDA QEPLDFSQLT TRKLVDREGL 850
    IPPELFYMGL TVWVSSDPLG LAASQANFYP PPPEWLHDKY DTTGENLRIP 900
    PAQPLEFAQF PFLLRGLQKT ADFVEAIEGA RAACAEAGQA GVHAYPSGSP 950
    FLFWEQYLGL RRCFLLAVCI LLVCTFLVCA LLLLNPWTAG LIVLVLAMMT 1000
    VELFGIMGFL GIKLSAIPVV ILVASVGIGV EFTVHVALGF LTTQGSRNLR 1050
    AAHALEHTFA PVTDGAISTL LGLLMLAGSH FDFIVRYFFA ALTVLTLLGL 1100
    LHGLVLLPVL LSILGPPPEV IQMYKESPEI LSPPAPQGGG LRWGASSSLP 1150
    QSFARVTTSM TVAIHPPPLP GAYIHPAPDE PPWSPAATSS GNLSSRGPGP 1200
    ATG 1203
    Length:1,203
    Mass (Da):130,544
    Last modified:January 24, 2001 - v2
    Checksum:i4FAB06999782C031
    GO
    Isoform 2 (identifier: Q9Y6C5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1143-1203: WGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGPATG → PEEI

    Show »
    Length:1,146
    Mass (Da):124,909
    Checksum:iFC9A05E2E37C455F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2 – 21T → N in AAD25953. (PubMed:9931336)Curated
    Sequence conflicti120 – 1201R → L in AAD25953. (PubMed:9931336)Curated
    Sequence conflicti175 – 1751R → W in AAC79847. (PubMed:9811851)Curated
    Sequence conflicti175 – 1751R → W in AAQ88919. (PubMed:12975309)Curated
    Sequence conflicti175 – 1751R → W in AAQ89375. (PubMed:12975309)Curated
    Sequence conflicti753 – 7531Q → R in AAD25953. (PubMed:9931336)Curated
    Sequence conflicti787 – 7871N → S in AAD25953. (PubMed:9931336)Curated
    Sequence conflicti833 – 8331P → L in AAD17260. (PubMed:10029063)Curated
    Sequence conflicti837 – 8371S → G in AAD25953. (PubMed:9931336)Curated
    Sequence conflicti846 – 8461D → E in AAD25953. (PubMed:9931336)Curated
    Sequence conflicti897 – 8971L → F in AAD17260. (PubMed:10029063)Curated
    Sequence conflicti1203 – 12031G → GDYKDDDDK in AAQ88919. (PubMed:12975309)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti346 – 3461E → Q.1 Publication
    Corresponds to variant rs11573578 [ dbSNP | Ensembl ].
    VAR_018935
    Natural varianti493 – 4931E → K.1 Publication
    Corresponds to variant rs11573581 [ dbSNP | Ensembl ].
    VAR_018936
    Natural varianti622 – 6221H → Y.1 Publication
    Corresponds to variant rs11573586 [ dbSNP | Ensembl ].
    VAR_018937
    Natural varianti988 – 9881T → M.1 Publication
    Corresponds to variant rs11573590 [ dbSNP | Ensembl ].
    VAR_018938
    Natural varianti995 – 9951V → M.
    Corresponds to variant rs11573591 [ dbSNP | Ensembl ].
    VAR_050466
    Natural varianti1019 – 10191V → M.1 Publication
    Corresponds to variant rs11573591 [ dbSNP | Ensembl ].
    VAR_018939
    Natural varianti1121 – 11211I → M.1 Publication
    Corresponds to variant rs11573598 [ dbSNP | Ensembl ].
    VAR_018940

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1143 – 120361WGASS…GPATG → PEEI in isoform 2. 1 PublicationVSP_004542Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF091501 mRNA. Translation: AAC79847.1.
    AF087651 mRNA. Translation: AAD25953.1.
    AF119569 mRNA. Translation: AAD17260.1.
    AY358555 mRNA. Translation: AAQ88919.1.
    AY359016 mRNA. Translation: AAQ89375.1.
    AY438664 Genomic DNA. Translation: AAR05447.1.
    AL136380, AL592166 Genomic DNA. Translation: CAI23127.1.
    AL592166, AL136380 Genomic DNA. Translation: CAI13000.1.
    CCDSiCCDS516.1. [Q9Y6C5-1]
    CCDS53312.1. [Q9Y6C5-2]
    RefSeqiNP_001159764.1. NM_001166292.1. [Q9Y6C5-2]
    NP_003729.3. NM_003738.4. [Q9Y6C5-1]
    UniGeneiHs.591497.

    Genome annotation databases

    EnsembliENST00000372192; ENSP00000361266; ENSG00000117425. [Q9Y6C5-1]
    ENST00000447098; ENSP00000389703; ENSG00000117425. [Q9Y6C5-2]
    GeneIDi8643.
    KEGGihsa:8643.
    UCSCiuc010olf.2. human. [Q9Y6C5-1]
    uc021omv.1. human. [Q9Y6C5-2]

    Polymorphism databases

    DMDMi12643356.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF091501 mRNA. Translation: AAC79847.1 .
    AF087651 mRNA. Translation: AAD25953.1 .
    AF119569 mRNA. Translation: AAD17260.1 .
    AY358555 mRNA. Translation: AAQ88919.1 .
    AY359016 mRNA. Translation: AAQ89375.1 .
    AY438664 Genomic DNA. Translation: AAR05447.1 .
    AL136380 , AL592166 Genomic DNA. Translation: CAI23127.1 .
    AL592166 , AL136380 Genomic DNA. Translation: CAI13000.1 .
    CCDSi CCDS516.1. [Q9Y6C5-1 ]
    CCDS53312.1. [Q9Y6C5-2 ]
    RefSeqi NP_001159764.1. NM_001166292.1. [Q9Y6C5-2 ]
    NP_003729.3. NM_003738.4. [Q9Y6C5-1 ]
    UniGenei Hs.591497.

    3D structure databases

    ProteinModelPortali Q9Y6C5.
    SMRi Q9Y6C5. Positions 968-1115.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114195. 3 interactions.
    IntActi Q9Y6C5. 1 interaction.
    STRINGi 9606.ENSP00000361266.

    PTM databases

    PhosphoSitei Q9Y6C5.

    Polymorphism databases

    DMDMi 12643356.

    Proteomic databases

    PaxDbi Q9Y6C5.
    PRIDEi Q9Y6C5.

    Protocols and materials databases

    DNASUi 8643.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372192 ; ENSP00000361266 ; ENSG00000117425 . [Q9Y6C5-1 ]
    ENST00000447098 ; ENSP00000389703 ; ENSG00000117425 . [Q9Y6C5-2 ]
    GeneIDi 8643.
    KEGGi hsa:8643.
    UCSCi uc010olf.2. human. [Q9Y6C5-1 ]
    uc021omv.1. human. [Q9Y6C5-2 ]

    Organism-specific databases

    CTDi 8643.
    GeneCardsi GC01M045286.
    HGNCi HGNC:9586. PTCH2.
    HPAi HPA046839.
    MIMi 155255. phenotype.
    603673. gene.
    605462. phenotype.
    neXtProti NX_Q9Y6C5.
    Orphaneti 141276. Commissural facial cleft.
    PharmGKBi PA33938.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG313603.
    HOGENOMi HOG000231331.
    HOVERGENi HBG003801.
    InParanoidi Q9Y6C5.
    KOi K11101.
    OMAi HCEASSQ.
    OrthoDBi EOG7HMS06.
    PhylomeDBi Q9Y6C5.
    TreeFami TF106489.

    Enzyme and pathway databases

    Reactomei REACT_18372. Class B/2 (Secretin family receptors).
    SignaLinki Q9Y6C5.

    Miscellaneous databases

    GenomeRNAii 8643.
    NextBioi 32403.
    PROi Q9Y6C5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9Y6C5.
    CleanExi HS_PTCH2.
    Genevestigatori Q9Y6C5.

    Family and domain databases

    InterProi IPR003392. Patched.
    IPR000731. SSD.
    IPR004766. TM_rcpt_patched.
    [Graphical view ]
    Pfami PF02460. Patched. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00918. 2A060602. 1 hit.
    PROSITEi PS50156. SSD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of two patched receptors for the vertebrate hedgehog protein family."
      Carpenter D., Stone D.M., Brush J., Ryan A., Armanini M., Frantz G., Rosenthal A., de Sauvage F.J.
      Proc. Natl. Acad. Sci. U.S.A. 95:13630-13634(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32."
      Smyth I., Narang M.A., Evans T., Heimann C., Nakamura Y., Chenevix-Trench G., Pietsch T., Wicking C., Wainwright B.J.
      Hum. Mol. Genet. 8:291-297(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MDB AND BCC.
    3. "PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas."
      Zaphiropoulos P.G., Unden A.B., Rahnama F., Hollingsworth R.E., Toftgard R.
      Cancer Res. 59:787-792(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. NIEHS SNPs program
      Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-346; LYS-493; TYR-622; MET-988; MET-1019 AND MET-1121.
    6. "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].

    Entry informationi

    Entry nameiPTC2_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y6C5
    Secondary accession number(s): O95341
    , O95856, Q53Z57, Q5QP87, Q6UX14
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: January 24, 2001
    Last modified: October 1, 2014
    This is version 122 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 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