Q9P2K9 (PTHD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Patched domain-containing protein 2

Alternative name(s):
Protein dispatched homolog 3

Gene names

Name:	PTCHD2
Synonyms:	DISP3, KIAA1337

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1392 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cholesterol homeostasis Inferred from sequence or structural similarity PubMed 19179482. Source: UniProtKB regulation of lipid transport Non-traceable author statement Ref.4. Source: UniProtKB smoothened signaling pathway Non-traceable author statement PubMed 16258256. Source: UniProtKB
Cellular_component	endoplasmic reticulum Inferred from sequence or structural similarity PubMed 19179482. Source: UniProtKB integral to membrane Non-traceable author statement Ref.4. Source: UniProtKB nuclear membrane Inferred from sequence or structural similarity PubMed 19179482. Source: UniProtKB
Molecular_function	hedgehog receptor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1392	1392	Patched domain-containing protein 2		PRO_0000308329
Regions
	Topological domain	1 – 73	73	Cytoplasmic Potential
	Transmembrane	74 – 94	21	Helical; Potential
	Topological domain	95 – 462	368	Extracellular Potential
	Transmembrane	463 – 483	21	Helical; Potential
	Topological domain	484	1	Cytoplasmic Potential
	Transmembrane	485 – 505	21	Helical; Potential
	Topological domain	506 – 508	3	Extracellular Potential
	Transmembrane	509 – 529	21	Helical; Potential
	Topological domain	530 – 573	44	Cytoplasmic Potential
	Transmembrane	574 – 594	21	Helical; Potential
	Topological domain	595	1	Extracellular Potential
	Transmembrane	596 – 616	21	Helical; Potential
	Topological domain	617 – 729	113	Cytoplasmic Potential
	Transmembrane	730 – 750	21	Helical; Potential
	Topological domain	751 – 1182	432	Extracellular Potential
	Transmembrane	1183 – 1203	21	Helical; Potential
	Topological domain	1204	1	Cytoplasmic Potential
	Transmembrane	1205 – 1225	21	Helical; Potential
	Topological domain	1226 – 1291	66	Extracellular Potential
	Transmembrane	1292 – 1312	21	Helical; Potential
	Topological domain	1313 – 1320	8	Cytoplasmic Potential
	Transmembrane	1321 – 1341	21	Helical; Potential
	Topological domain	1342 – 1358	17	Extracellular Potential
	Transmembrane	1359 – 1379	21	Helical; Potential
	Topological domain	1380 – 1392	13	Cytoplasmic Potential
	Domain	457 – 615	159	SSD
Amino acid modifications
	Glycosylation	163	1	N-linked (GlcNAc...) Potential
	Glycosylation	1021	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	934 – 1392	459	Missing in isoform 2.		VSP_028966
	Natural variant	39	1	G → R. Corresponds to variant rs41274528 [ dbSNP | Ensembl ].		VAR_061496
	Natural variant	51	1	L → V. Corresponds to variant rs3738159 [ dbSNP | Ensembl ].		VAR_036796
	Natural variant	182	1	G → S. Ref.1 Corresponds to variant rs2817580 [ dbSNP | Ensembl ].		VAR_036797
	Natural variant	650	1	A → T. Ref.1 Corresponds to variant rs2072994 [ dbSNP | Ensembl ].		VAR_036798
	Natural variant	661	1	G → A. Corresponds to variant rs2072993 [ dbSNP | Ensembl ].		VAR_036799
	Natural variant	948	1	R → H. Corresponds to variant rs12096312 [ dbSNP | Ensembl ].		VAR_036800

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 23, 2007. Version 2. Checksum: D72303B2F94CD5DF	FASTA	1,392	153,048
	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
	Isoform 2 [UniParc]. Checksum: 36DBB4BE0E831FD7	FASTA	933	103,766
	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 RKWMLTTLAC DAKRGWKFDF SFYVATKEQQ HTR

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00002283. IPI00853396.
RefSeq	NP_065831.1. NM_020780.1.
UniGene	Hs.202355.
3D structure databases
ProteinModelPortal	Q9P2K9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9P2K9. 3 interactions.
MINT	MINT-1367736.
STRING	9606.ENSP00000294484.
PTM databases
PhosphoSite	Q9P2K9.
Polymorphism databases
DMDM	160017977.
Proteomic databases
PaxDb	Q9P2K9.
PRIDE	Q9P2K9.
Protocols and materials databases
DNASU	57540.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000294484; ENSP00000294484; ENSG00000204624.
GeneID	57540.
KEGG	hsa:57540.
UCSC	uc001ash.4. human.
Organism-specific databases
CTD	57540.
GeneCards	GC01P011442.
H-InvDB	HIX0000124.
HGNC	HGNC:29251. PTCHD2.
HPA	HPA054579.
MIM	611251. gene.
neXtProt	NX_Q9P2K9.
PharmGKB	PA142671116.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG277261.
HOGENOM	HOG000115763.
HOVERGEN	HBG108304.
OMA	AFESTTY.
OrthoDB	EOG4GXFKW.
Gene expression databases
ArrayExpress	Q9P2K9.
Bgee	Q9P2K9.
CleanEx	HS_PTCHD2.
Genevestigator	Q9P2K9.
Family and domain databases
InterPro	IPR004869. MMPL-typ. IPR003392. Patched. IPR000731. SSD. [Graphical view]
Pfam	PF03176. MMPL. 1 hit. PF02460. Patched. 1 hit. [Graphical view]
PROSITE	PS50156. SSD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57540.
NextBio	63974.
SOURCE	Search...

Entry information

Entry name

PTHD2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 76 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.