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Q9P2K9 (PTHD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Patched domain-containing protein 2
Alternative name(s):
Protein dispatched homolog 3
Gene names
Name:PTCHD2
Synonyms:DISP3, KIAA1337
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1392 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Expressed in brain and testis. Ref.4

Developmental stage

Expressed in fetal brain. Ref.4

Sequence similarities

Belongs to the patched family.

Contains 1 SSD (sterol-sensing) domain.

Sequence caution

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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P2K9-1)

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.
Isoform 2 (identifier: Q9P2K9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     934-1392: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13921392Patched domain-containing protein 2
PRO_0000308329

Regions

Topological domain1 – 7373Cytoplasmic Potential
Transmembrane74 – 9421Helical; Potential
Topological domain95 – 462368Extracellular Potential
Transmembrane463 – 48321Helical; Potential
Topological domain4841Cytoplasmic Potential
Transmembrane485 – 50521Helical; Potential
Topological domain506 – 5083Extracellular Potential
Transmembrane509 – 52921Helical; Potential
Topological domain530 – 57344Cytoplasmic Potential
Transmembrane574 – 59421Helical; Potential
Topological domain5951Extracellular Potential
Transmembrane596 – 61621Helical; Potential
Topological domain617 – 729113Cytoplasmic Potential
Transmembrane730 – 75021Helical; Potential
Topological domain751 – 1182432Extracellular Potential
Transmembrane1183 – 120321Helical; Potential
Topological domain12041Cytoplasmic Potential
Transmembrane1205 – 122521Helical; Potential
Topological domain1226 – 129166Extracellular Potential
Transmembrane1292 – 131221Helical; Potential
Topological domain1313 – 13208Cytoplasmic Potential
Transmembrane1321 – 134121Helical; Potential
Topological domain1342 – 135817Extracellular Potential
Transmembrane1359 – 137921Helical; Potential
Topological domain1380 – 139213Cytoplasmic Potential
Domain457 – 615159SSD

Amino acid modifications

Glycosylation1631N-linked (GlcNAc...) Potential
Glycosylation10211N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence934 – 1392459Missing in isoform 2.
VSP_028966
Natural variant391G → R.
Corresponds to variant rs41274528 [ dbSNP | Ensembl ].
VAR_061496
Natural variant511L → V.
Corresponds to variant rs3738159 [ dbSNP | Ensembl ].
VAR_036796
Natural variant1821G → S. Ref.1
Corresponds to variant rs2817580 [ dbSNP | Ensembl ].
VAR_036797
Natural variant6501A → T. Ref.1
Corresponds to variant rs2072994 [ dbSNP | Ensembl ].
VAR_036798
Natural variant6611G → A.
Corresponds to variant rs2072993 [ dbSNP | Ensembl ].
VAR_036799
Natural variant9481R → H.
Corresponds to variant rs12096312 [ dbSNP | Ensembl ].
VAR_036800

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 23, 2007. Version 2.
Checksum: D72303B2F94CD5DF

FASTA1,392153,048
        10         20         30         40         50         60 
MDTEDDPLLQ DVWLEEEQEE EEATGETFLG AQKPGPQPGA GGQCCWRHWP LASRPPASGF 

        70         80         90        100        110        120 
WSTLGWAFTN PCCAGLVLFL GCSIPMALSA FMFLYYPPLD IDISYNAFEI RNHEASQRFD 

       130        140        150        160        170        180 
ALTLALKSQF GSWGRNRRDL ADFTSETLQR LISEQLQQLH LGNRSRQASR APRVIPAASL 

       190        200        210        220        230        240 
GGPGPYRDTS AAQKPTANRS GRLRRETPPL EDLAANQSED PRNQRLSKNG RYQPSIPPHA 

       250        260        270        280        290        300 
AVAANQSRAR RGASRWDYSR AYVSANTQTH AHWRIELIFL ARGDAERNIF TSERLVTIHE 

       310        320        330        340        350        360 
IERKIMDHPG FREFCWKPHE VLKDLPLGSY SYCSPPSSLM TYFFPTERGG KIYYDGMGQD 

       370        380        390        400        410        420 
LADIRGSLEL AMTHPEFYWY VDEGLSADNL KSSLLRSEIL FGAPLPNYYS VDDRWEEQRA 

       430        440        450        460        470        480 
KFQSFVVTYV AMLAKQSTSK VQVLYGGTDL FDYEVRRTFN NDMLLAFISS SCIAALVYIL 

       490        500        510        520        530        540 
TSCSVFLSFF GIASIGLSCL VALFLYHVVF GIQYLGILNG VAAFVIVGIG VDDVFVFINT 

       550        560        570        580        590        600 
YRQATHLEDP QLRMIHTVQT AGKATFFTSL TTAAAYAANV FSQIPAVHDF GLFMSLIVSC 

       610        620        630        640        650        660 
CWLAVLVTMP AALGLWSLYL APLESSCQTS CHQNCSRKTS LHFPGDVFAA PEQVGGSPAQ 

       670        680        690        700        710        720 
GPIPYLDDDI PLLEVEEEPV SLELGDVSLV SVSPEGLQPA SNTGSRGHLI VQLQELLHHW 

       730        740        750        760        770        780 
VLWSAVKSRW VIVGLFVSIL ILSLVFASRL RPASRAPLLF RPDTNIQVLL DLKYNLSAEG 

       790        800        810        820        830        840 
ISCITCSGLF QEKPHSLQNN IRTSLEKKRR GSGVPWASRP EATLQDFPGT VYISKVKSQG 

       850        860        870        880        890        900 
HPAVYRLSLN ASLPAPWQAV SPGDGEVPSF QVYRAPFGNF TKKLTACMST VGLLQAASPS 

       910        920        930        940        950        960 
RKWMLTTLAC DAKRGWKFDF SFYVATKEQQ HTRKLYFAQS HKPPFHGRVC MAPPGCLLSS 

       970        980        990       1000       1010       1020 
SPDGPTKGFF FVPSEKVPKA RLSATFGFNP CVNTGCGKPA VRPLVDTGAM VFVVFGIIGV 

      1030       1040       1050       1060       1070       1080 
NRTRQVDNHV IGDPGSVVYD SSFDLFKEIG HLCHLCKAIA ANSELVKPGG AQCLPSGYSI 

      1090       1100       1110       1120       1130       1140 
SSFLQMLHPE CKELPEPNLL PGQLSHGAVG VREGRVQWIS MAFESTTYKG KSSFQTYSDY 

      1150       1160       1170       1180       1190       1200 
LRWESFLQQQ LQALPEGSVL RRGFQTCEHW KQIFMEIVGV QSALCGLVLS LLICVAAVAV 

      1210       1220       1230       1240       1250       1260 
FTTHILLLLP VLLSILGIVC LVVTIMYWSG WEMGAVEAIS LSILVGSSVD YCVHLVEGYL 

      1270       1280       1290       1300       1310       1320 
LAGENLPPHQ AEDARTQRQW RTLEAVRHVG VAIVSSALTT VIATVPLFFC IIAPFAKFGK 

      1330       1340       1350       1360       1370       1380 
IVALNTGVSI LYTLTVSTAL LGIMAPSSFT RTRTSFLKAL GAVLLAGALG LGACLVLLQS 

      1390 
GYKIPLPAGA SL 

« Hide

Isoform 2 [UniParc].

Checksum: 36DBB4BE0E831FD7
Show »

FASTA933103,766

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41247.1. [Q9P2K9-1]
RefSeqNP_065831.1. NM_020780.1. [Q9P2K9-1]
UniGeneHs.202355.

3D structure databases

ProteinModelPortalQ9P2K9.
SMRQ9P2K9. Positions 724-751.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121599. 2 interactions.
IntActQ9P2K9. 3 interactions.
MINTMINT-1367736.
STRING9606.ENSP00000294484.

PTM databases

PhosphoSiteQ9P2K9.

Polymorphism databases

DMDM160017977.

Proteomic databases

PaxDbQ9P2K9.
PRIDEQ9P2K9.

Protocols and materials databases

DNASU57540.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000294484; ENSP00000294484; ENSG00000204624. [Q9P2K9-1]
GeneID57540.
KEGGhsa:57540.
UCSCuc001ash.4. human. [Q9P2K9-1]

Organism-specific databases

CTD57540.
GeneCardsGC01P011442.
H-InvDBHIX0000124.
HGNCHGNC:29251. PTCHD2.
HPAHPA054579.
MIM611251. gene.
neXtProtNX_Q9P2K9.
PharmGKBPA142671116.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG277261.
HOGENOMHOG000115763.
HOVERGENHBG108304.
OMAAFESTTY.
OrthoDBEOG725DGN.
PhylomeDBQ9P2K9.
TreeFamTF331579.

Enzyme and pathway databases

SignaLinkQ9P2K9.

Gene expression databases

ArrayExpressQ9P2K9.
BgeeQ9P2K9.
CleanExHS_PTCHD2.
GenevestigatorQ9P2K9.

Family and domain databases

InterProIPR004869. MMPL_dom.
IPR003392. Patched.
IPR000731. SSD.
[Graphical view]
PfamPF03176. MMPL. 1 hit.
PF02460. Patched. 1 hit.
[Graphical view]
PROSITEPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57540.
NextBio63974.
PROQ9P2K9.
SOURCESearch...

Entry information

Entry namePTHD2_HUMAN
AccessionPrimary (citable) accession number: Q9P2K9
Secondary accession number(s): Q5VTU9, Q9UJD6
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM