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Q9P2K9

- PTHD2_HUMAN

UniProt

Q9P2K9 - PTHD2_HUMAN

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Protein
Patched domain-containing protein 2
Gene
PTCHD2, DISP3, KIAA1337
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7373Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei74 – 9421Helical; Reviewed prediction
Add
BLAST
Topological domaini95 – 462368Extracellular Reviewed prediction
Add
BLAST
Transmembranei463 – 48321Helical; Reviewed prediction
Add
BLAST
Topological domaini484 – 4841Cytoplasmic Reviewed prediction
Transmembranei485 – 50521Helical; Reviewed prediction
Add
BLAST
Topological domaini506 – 5083Extracellular Reviewed prediction
Transmembranei509 – 52921Helical; Reviewed prediction
Add
BLAST
Topological domaini530 – 57344Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei574 – 59421Helical; Reviewed prediction
Add
BLAST
Topological domaini595 – 5951Extracellular Reviewed prediction
Transmembranei596 – 61621Helical; Reviewed prediction
Add
BLAST
Topological domaini617 – 729113Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei730 – 75021Helical; Reviewed prediction
Add
BLAST
Topological domaini751 – 1182432Extracellular Reviewed prediction
Add
BLAST
Transmembranei1183 – 120321Helical; Reviewed prediction
Add
BLAST
Topological domaini1204 – 12041Cytoplasmic Reviewed prediction
Transmembranei1205 – 122521Helical; Reviewed prediction
Add
BLAST
Topological domaini1226 – 129166Extracellular Reviewed prediction
Add
BLAST
Transmembranei1292 – 131221Helical; Reviewed prediction
Add
BLAST
Topological domaini1313 – 13208Cytoplasmic Reviewed prediction
Transmembranei1321 – 134121Helical; Reviewed prediction
Add
BLAST
Topological domaini1342 – 135817Extracellular Reviewed prediction
Add
BLAST
Transmembranei1359 – 137921Helical; Reviewed prediction
Add
BLAST
Topological domaini1380 – 139213Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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 2
PRO_0000308329Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini457 – 615159SSD
Add
BLAST

Sequence similaritiesi

Belongs to the patched family.

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.
VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 86 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

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