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Q9P2K9

- PTHD2_HUMAN

UniProt

Q9P2K9 - PTHD2_HUMAN

Protein

Patched domain-containing protein 2

Gene

PTCHD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 2 (23 Oct 2007)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. hedgehog receptor activity Source: InterPro

    GO - Biological processi

    1. cholesterol homeostasis Source: UniProtKB
    2. regulation of lipid transport Source: UniProtKB
    3. smoothened signaling pathway Source: UniProtKB

    Enzyme and pathway databases

    SignaLinkiQ9P2K9.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Patched domain-containing protein 2
    Alternative name(s):
    Protein dispatched homolog 3
    Gene namesi
    Name:PTCHD2
    Synonyms:DISP3, KIAA1337
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:29251. PTCHD2.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. integral component of membrane Source: UniProtKB
    3. nuclear membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671116.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13921392Patched domain-containing protein 2PRO_0000308329Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi163 – 1631N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1021 – 10211N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9P2K9.
    PRIDEiQ9P2K9.

    PTM databases

    PhosphoSiteiQ9P2K9.

    Expressioni

    Tissue specificityi

    Expressed in brain and testis.1 Publication

    Developmental stagei

    Expressed in fetal brain.1 Publication

    Gene expression databases

    ArrayExpressiQ9P2K9.
    BgeeiQ9P2K9.
    CleanExiHS_PTCHD2.
    GenevestigatoriQ9P2K9.

    Organism-specific databases

    HPAiHPA054579.

    Interactioni

    Protein-protein interaction databases

    BioGridi121599. 2 interactions.
    IntActiQ9P2K9. 3 interactions.
    MINTiMINT-1367736.
    STRINGi9606.ENSP00000294484.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9P2K9.
    SMRiQ9P2K9. Positions 724-751.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 7373CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini95 – 462368ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini484 – 4841CytoplasmicSequence Analysis
    Topological domaini506 – 5083ExtracellularSequence Analysis
    Topological domaini530 – 57344CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini595 – 5951ExtracellularSequence Analysis
    Topological domaini617 – 729113CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini751 – 1182432ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1204 – 12041CytoplasmicSequence Analysis
    Topological domaini1226 – 129166ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1313 – 13208CytoplasmicSequence Analysis
    Topological domaini1342 – 135817ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1380 – 139213CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei74 – 9421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei463 – 48321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei485 – 50521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei509 – 52921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei574 – 59421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei596 – 61621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei730 – 75021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1183 – 120321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1205 – 122521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1292 – 131221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1321 – 134121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1359 – 137921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini457 – 615159SSDPROSITE-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

    eggNOGiNOG277261.
    HOGENOMiHOG000115763.
    HOVERGENiHBG108304.
    OMAiAFESTTY.
    OrthoDBiEOG725DGN.
    PhylomeDBiQ9P2K9.
    TreeFamiTF331579.

    Family and domain databases

    InterProiIPR004869. MMPL_dom.
    IPR003392. Patched.
    IPR000731. SSD.
    [Graphical view]
    PfamiPF03176. MMPL. 1 hit.
    PF02460. Patched. 1 hit.
    [Graphical view]
    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: Q9P2K9-1) [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

    MDTEDDPLLQ DVWLEEEQEE EEATGETFLG AQKPGPQPGA GGQCCWRHWP     50
    LASRPPASGF WSTLGWAFTN PCCAGLVLFL GCSIPMALSA FMFLYYPPLD 100
    IDISYNAFEI RNHEASQRFD ALTLALKSQF GSWGRNRRDL ADFTSETLQR 150
    LISEQLQQLH LGNRSRQASR APRVIPAASL GGPGPYRDTS AAQKPTANRS 200
    GRLRRETPPL EDLAANQSED PRNQRLSKNG RYQPSIPPHA AVAANQSRAR 250
    RGASRWDYSR AYVSANTQTH AHWRIELIFL ARGDAERNIF TSERLVTIHE 300
    IERKIMDHPG FREFCWKPHE VLKDLPLGSY SYCSPPSSLM TYFFPTERGG 350
    KIYYDGMGQD LADIRGSLEL AMTHPEFYWY VDEGLSADNL KSSLLRSEIL 400
    FGAPLPNYYS VDDRWEEQRA KFQSFVVTYV AMLAKQSTSK VQVLYGGTDL 450
    FDYEVRRTFN NDMLLAFISS SCIAALVYIL TSCSVFLSFF GIASIGLSCL 500
    VALFLYHVVF GIQYLGILNG VAAFVIVGIG VDDVFVFINT YRQATHLEDP 550
    QLRMIHTVQT AGKATFFTSL TTAAAYAANV FSQIPAVHDF GLFMSLIVSC 600
    CWLAVLVTMP AALGLWSLYL APLESSCQTS CHQNCSRKTS LHFPGDVFAA 650
    PEQVGGSPAQ GPIPYLDDDI PLLEVEEEPV SLELGDVSLV SVSPEGLQPA 700
    SNTGSRGHLI VQLQELLHHW VLWSAVKSRW VIVGLFVSIL ILSLVFASRL 750
    RPASRAPLLF RPDTNIQVLL DLKYNLSAEG ISCITCSGLF QEKPHSLQNN 800
    IRTSLEKKRR GSGVPWASRP EATLQDFPGT VYISKVKSQG HPAVYRLSLN 850
    ASLPAPWQAV SPGDGEVPSF QVYRAPFGNF TKKLTACMST VGLLQAASPS 900
    RKWMLTTLAC DAKRGWKFDF SFYVATKEQQ HTRKLYFAQS HKPPFHGRVC 950
    MAPPGCLLSS SPDGPTKGFF FVPSEKVPKA RLSATFGFNP CVNTGCGKPA 1000
    VRPLVDTGAM VFVVFGIIGV NRTRQVDNHV IGDPGSVVYD SSFDLFKEIG 1050
    HLCHLCKAIA ANSELVKPGG AQCLPSGYSI SSFLQMLHPE CKELPEPNLL 1100
    PGQLSHGAVG VREGRVQWIS MAFESTTYKG KSSFQTYSDY LRWESFLQQQ 1150
    LQALPEGSVL RRGFQTCEHW KQIFMEIVGV QSALCGLVLS LLICVAAVAV 1200
    FTTHILLLLP VLLSILGIVC LVVTIMYWSG WEMGAVEAIS LSILVGSSVD 1250
    YCVHLVEGYL LAGENLPPHQ AEDARTQRQW RTLEAVRHVG VAIVSSALTT 1300
    VIATVPLFFC IIAPFAKFGK IVALNTGVSI LYTLTVSTAL LGIMAPSSFT 1350
    RTRTSFLKAL GAVLLAGALG LGACLVLLQS GYKIPLPAGA SL 1392
    Length:1,392
    Mass (Da):153,048
    Last modified:October 23, 2007 - v2
    Checksum:iD72303B2F94CD5DF
    GO
    Isoform 2 (identifier: Q9P2K9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         934-1392: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:933
    Mass (Da):103,766
    Checksum:i36DBB4BE0E831FD7
    GO

    Sequence cautioni

    The sequence BAA92575.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAB55303.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAH70606.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI22474.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391G → R.
    Corresponds to variant rs41274528 [ dbSNP | Ensembl ].
    VAR_061496
    Natural varianti51 – 511L → V.
    Corresponds to variant rs3738159 [ dbSNP | Ensembl ].
    VAR_036796
    Natural varianti182 – 1821G → S.1 Publication
    Corresponds to variant rs2817580 [ dbSNP | Ensembl ].
    VAR_036797
    Natural varianti650 – 6501A → T.1 Publication
    Corresponds to variant rs2072994 [ dbSNP | Ensembl ].
    VAR_036798
    Natural varianti661 – 6611G → A.
    Corresponds to variant rs2072993 [ dbSNP | Ensembl ].
    VAR_036799
    Natural varianti948 – 9481R → H.
    Corresponds to variant rs12096312 [ dbSNP | Ensembl ].
    VAR_036800

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei934 – 1392459Missing in isoform 2. 1 PublicationVSP_028966Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037758 mRNA. Translation: BAA92575.1. Different initiation.
    AL590989, AL031735 Genomic DNA. Translation: CAH70606.1. Sequence problems.
    AL031735, AL590989 Genomic DNA. Translation: CAI22474.1. Sequence problems.
    AL117236 mRNA. Translation: CAB55303.1. Different initiation.
    CCDSiCCDS41247.1. [Q9P2K9-1]
    RefSeqiNP_065831.1. NM_020780.1. [Q9P2K9-1]
    UniGeneiHs.202355.

    Genome annotation databases

    EnsembliENST00000294484; ENSP00000294484; ENSG00000204624. [Q9P2K9-1]
    GeneIDi57540.
    KEGGihsa:57540.
    UCSCiuc001ash.4. human. [Q9P2K9-1]

    Polymorphism databases

    DMDMi160017977.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037758 mRNA. Translation: BAA92575.1 . Different initiation.
    AL590989 , AL031735 Genomic DNA. Translation: CAH70606.1 . Sequence problems.
    AL031735 , AL590989 Genomic DNA. Translation: CAI22474.1 . Sequence problems.
    AL117236 mRNA. Translation: CAB55303.1 . Different initiation.
    CCDSi CCDS41247.1. [Q9P2K9-1 ]
    RefSeqi NP_065831.1. NM_020780.1. [Q9P2K9-1 ]
    UniGenei Hs.202355.

    3D structure databases

    ProteinModelPortali Q9P2K9.
    SMRi Q9P2K9. Positions 724-751.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121599. 2 interactions.
    IntActi Q9P2K9. 3 interactions.
    MINTi MINT-1367736.
    STRINGi 9606.ENSP00000294484.

    PTM databases

    PhosphoSitei Q9P2K9.

    Polymorphism databases

    DMDMi 160017977.

    Proteomic databases

    PaxDbi Q9P2K9.
    PRIDEi Q9P2K9.

    Protocols and materials databases

    DNASUi 57540.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000294484 ; ENSP00000294484 ; ENSG00000204624 . [Q9P2K9-1 ]
    GeneIDi 57540.
    KEGGi hsa:57540.
    UCSCi uc001ash.4. human. [Q9P2K9-1 ]

    Organism-specific databases

    CTDi 57540.
    GeneCardsi GC01P011442.
    H-InvDB HIX0000124.
    HGNCi HGNC:29251. PTCHD2.
    HPAi HPA054579.
    MIMi 611251. gene.
    neXtProti NX_Q9P2K9.
    PharmGKBi PA142671116.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG277261.
    HOGENOMi HOG000115763.
    HOVERGENi HBG108304.
    OMAi AFESTTY.
    OrthoDBi EOG725DGN.
    PhylomeDBi Q9P2K9.
    TreeFami TF331579.

    Enzyme and pathway databases

    SignaLinki Q9P2K9.

    Miscellaneous databases

    GenomeRNAii 57540.
    NextBioi 63974.
    PROi Q9P2K9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9P2K9.
    Bgeei Q9P2K9.
    CleanExi HS_PTCHD2.
    Genevestigatori Q9P2K9.

    Family and domain databases

    InterProi IPR004869. MMPL_dom.
    IPR003392. Patched.
    IPR000731. SSD.
    [Graphical view ]
    Pfami PF03176. MMPL. 1 hit.
    PF02460. Patched. 1 hit.
    [Graphical view ]
    PROSITEi PS50156. SSD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS SER-182 AND THR-650.
      Tissue: Brain.
    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. Rhodes S., Huckle E.
      Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 315-1392 (ISOFORM 2).
    4. "Identification and characterization of DISP3 gene in silico."
      Katoh Y., Katoh M.
      Int. J. Oncol. 26:551-556(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

    Entry informationi

    Entry nameiPTHD2_HUMAN
    AccessioniPrimary (citable) accession number: Q9P2K9
    Secondary accession number(s): Q5VTU9, Q9UJD6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: October 23, 2007
    Last modified: October 1, 2014
    This is version 87 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