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Q9P2K9

- PTHD2_HUMAN

UniProt

Q9P2K9 - PTHD2_HUMAN

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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

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 – 7373CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei74 – 9421HelicalSequence AnalysisAdd
BLAST
Topological domaini95 – 462368ExtracellularSequence AnalysisAdd
BLAST
Transmembranei463 – 48321HelicalSequence AnalysisAdd
BLAST
Topological domaini484 – 4841CytoplasmicSequence Analysis
Transmembranei485 – 50521HelicalSequence AnalysisAdd
BLAST
Topological domaini506 – 5083ExtracellularSequence Analysis
Transmembranei509 – 52921HelicalSequence AnalysisAdd
BLAST
Topological domaini530 – 57344CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei574 – 59421HelicalSequence AnalysisAdd
BLAST
Topological domaini595 – 5951ExtracellularSequence Analysis
Transmembranei596 – 61621HelicalSequence AnalysisAdd
BLAST
Topological domaini617 – 729113CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei730 – 75021HelicalSequence AnalysisAdd
BLAST
Topological domaini751 – 1182432ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1183 – 120321HelicalSequence AnalysisAdd
BLAST
Topological domaini1204 – 12041CytoplasmicSequence Analysis
Transmembranei1205 – 122521HelicalSequence AnalysisAdd
BLAST
Topological domaini1226 – 129166ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1292 – 131221HelicalSequence AnalysisAdd
BLAST
Topological domaini1313 – 13208CytoplasmicSequence Analysis
Transmembranei1321 – 134121HelicalSequence AnalysisAdd
BLAST
Topological domaini1342 – 135817ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1359 – 137921HelicalSequence AnalysisAdd
BLAST
Topological domaini1380 – 139213CytoplasmicSequence AnalysisAdd
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 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

BgeeiQ9P2K9.
CleanExiHS_PTCHD2.
ExpressionAtlasiQ9P2K9. baseline and differential.
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.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00530000063208.
HOGENOMiHOG000115763.
HOVERGENiHBG108304.
InParanoidiQ9P2K9.
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

        10         20         30         40         50
MDTEDDPLLQ DVWLEEEQEE EEATGETFLG AQKPGPQPGA GGQCCWRHWP
60 70 80 90 100
LASRPPASGF WSTLGWAFTN PCCAGLVLFL GCSIPMALSA FMFLYYPPLD
110 120 130 140 150
IDISYNAFEI RNHEASQRFD ALTLALKSQF GSWGRNRRDL ADFTSETLQR
160 170 180 190 200
LISEQLQQLH LGNRSRQASR APRVIPAASL GGPGPYRDTS AAQKPTANRS
210 220 230 240 250
GRLRRETPPL EDLAANQSED PRNQRLSKNG RYQPSIPPHA AVAANQSRAR
260 270 280 290 300
RGASRWDYSR AYVSANTQTH AHWRIELIFL ARGDAERNIF TSERLVTIHE
310 320 330 340 350
IERKIMDHPG FREFCWKPHE VLKDLPLGSY SYCSPPSSLM TYFFPTERGG
360 370 380 390 400
KIYYDGMGQD LADIRGSLEL AMTHPEFYWY VDEGLSADNL KSSLLRSEIL
410 420 430 440 450
FGAPLPNYYS VDDRWEEQRA KFQSFVVTYV AMLAKQSTSK VQVLYGGTDL
460 470 480 490 500
FDYEVRRTFN NDMLLAFISS SCIAALVYIL TSCSVFLSFF GIASIGLSCL
510 520 530 540 550
VALFLYHVVF GIQYLGILNG VAAFVIVGIG VDDVFVFINT YRQATHLEDP
560 570 580 590 600
QLRMIHTVQT AGKATFFTSL TTAAAYAANV FSQIPAVHDF GLFMSLIVSC
610 620 630 640 650
CWLAVLVTMP AALGLWSLYL APLESSCQTS CHQNCSRKTS LHFPGDVFAA
660 670 680 690 700
PEQVGGSPAQ GPIPYLDDDI PLLEVEEEPV SLELGDVSLV SVSPEGLQPA
710 720 730 740 750
SNTGSRGHLI VQLQELLHHW VLWSAVKSRW VIVGLFVSIL ILSLVFASRL
760 770 780 790 800
RPASRAPLLF RPDTNIQVLL DLKYNLSAEG ISCITCSGLF QEKPHSLQNN
810 820 830 840 850
IRTSLEKKRR GSGVPWASRP EATLQDFPGT VYISKVKSQG HPAVYRLSLN
860 870 880 890 900
ASLPAPWQAV SPGDGEVPSF QVYRAPFGNF TKKLTACMST VGLLQAASPS
910 920 930 940 950
RKWMLTTLAC DAKRGWKFDF SFYVATKEQQ HTRKLYFAQS HKPPFHGRVC
960 970 980 990 1000
MAPPGCLLSS SPDGPTKGFF FVPSEKVPKA RLSATFGFNP CVNTGCGKPA
1010 1020 1030 1040 1050
VRPLVDTGAM VFVVFGIIGV NRTRQVDNHV IGDPGSVVYD SSFDLFKEIG
1060 1070 1080 1090 1100
HLCHLCKAIA ANSELVKPGG AQCLPSGYSI SSFLQMLHPE CKELPEPNLL
1110 1120 1130 1140 1150
PGQLSHGAVG VREGRVQWIS MAFESTTYKG KSSFQTYSDY LRWESFLQQQ
1160 1170 1180 1190 1200
LQALPEGSVL RRGFQTCEHW KQIFMEIVGV QSALCGLVLS LLICVAAVAV
1210 1220 1230 1240 1250
FTTHILLLLP VLLSILGIVC LVVTIMYWSG WEMGAVEAIS LSILVGSSVD
1260 1270 1280 1290 1300
YCVHLVEGYL LAGENLPPHQ AEDARTQRQW RTLEAVRHVG VAIVSSALTT
1310 1320 1330 1340 1350
VIATVPLFFC IIAPFAKFGK IVALNTGVSI LYTLTVSTAL LGIMAPSSFT
1360 1370 1380 1390
RTRTSFLKAL GAVLLAGALG LGACLVLLQS GYKIPLPAGA SL
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. Curated
The sequence CAB55303.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAH70606.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI22474.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
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 GC01P011540.
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.
GeneTreei ENSGT00530000063208.
HOGENOMi HOG000115763.
HOVERGENi HBG108304.
InParanoidi Q9P2K9.
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

Bgeei Q9P2K9.
CleanExi HS_PTCHD2.
ExpressionAtlasi Q9P2K9. baseline and differential.
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: November 26, 2014
This is version 89 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