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Q9Y6C5 (PTC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. 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·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein patched homolog 2

Short name=PTC2
Gene names
Name:PTCH2
ORF Names:UNQ560/PRO1121/PRO57079
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1203 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).

Subcellular location

Membrane; Multi-pass membrane protein.

Involvement in disease

Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Sequence similarities

Belongs to the patched family.

Contains 1 SSD (sterol-sensing) domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y6C5-1)

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: Q9Y6C5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1143-1203: WGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGPATG → PEEI

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12031203Protein patched homolog 2
PRO_0000205970

Regions

Topological domain1 – 5757Cytoplasmic Potential
Transmembrane58 – 7821Helical; Potential
Topological domain79 – 392314Extracellular Potential
Transmembrane393 – 41321Helical; Potential
Topological domain414 – 42815Cytoplasmic Potential
Transmembrane429 – 44921Helical; Potential
Topological domain450 – 4578Extracellular Potential
Transmembrane458 – 47821Helical; Potential
Topological domain479 – 50123Cytoplasmic Potential
Transmembrane502 – 52221Helical; Potential
Topological domain523 – 5319Extracellular Potential
Transmembrane532 – 55221Helical; Potential
Topological domain553 – 686134Cytoplasmic Potential
Transmembrane687 – 70721Helical; Potential
Topological domain708 – 963256Extracellular Potential
Transmembrane964 – 98421Helical; Potential
Topological domain985 – 9917Cytoplasmic Potential
Transmembrane992 – 101221Helical; Potential
Topological domain10131Extracellular Potential
Transmembrane1014 – 103421Helical; Potential
Topological domain1035 – 106430Cytoplasmic Potential
Transmembrane1065 – 108521Helical; Potential
Topological domain1086 – 10938Extracellular Potential
Transmembrane1094 – 111421Helical; Potential
Topological domain1115 – 120389Cytoplasmic Potential
Domain394 – 552159SSD

Amino acid modifications

Glycosylation3701N-linked (GlcNAc...) Potential
Glycosylation8121N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1143 – 120361WGASS…GPATG → PEEI in isoform 2.
VSP_004542
Natural variant3461E → Q. Ref.5
Corresponds to variant rs11573578 [ dbSNP | Ensembl ].
VAR_018935
Natural variant4931E → K. Ref.5
Corresponds to variant rs11573581 [ dbSNP | Ensembl ].
VAR_018936
Natural variant6221H → Y. Ref.5
Corresponds to variant rs11573586 [ dbSNP | Ensembl ].
VAR_018937
Natural variant9881T → M. Ref.5
Corresponds to variant rs11573590 [ dbSNP | Ensembl ].
VAR_018938
Natural variant9951V → M.
Corresponds to variant rs11573591 [ dbSNP | Ensembl ].
VAR_050466
Natural variant10191V → M. Ref.5
Corresponds to variant rs11573591 [ dbSNP | Ensembl ].
VAR_018939
Natural variant11211I → M. Ref.5
Corresponds to variant rs11573598 [ dbSNP | Ensembl ].
VAR_018940

Experimental info

Sequence conflict21T → N in AAD25953. Ref.2
Sequence conflict1201R → L in AAD25953. Ref.2
Sequence conflict1751R → W in AAC79847. Ref.1
Sequence conflict1751R → W in AAQ88919. Ref.4
Sequence conflict1751R → W in AAQ89375. Ref.4
Sequence conflict7531Q → R in AAD25953. Ref.2
Sequence conflict7871N → S in AAD25953. Ref.2
Sequence conflict8331P → L in AAD17260. Ref.3
Sequence conflict8371S → G in AAD25953. Ref.2
Sequence conflict8461D → E in AAD25953. Ref.2
Sequence conflict8971L → F in AAD17260. Ref.3
Sequence conflict12031G → GDYKDDDDK in AAQ88919. Ref.4

Sequences

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

Last modified January 24, 2001. Version 2.
Checksum: 4FAB06999782C031

FASTA1,203130,544
        10         20         30         40         50         60 
MTRSPPLREL PPSYTPPART AAPQILAGSL KAPLWLRAYF QGLLFSLGCG IQRHCGKVLF 

        70         80         90        100        110        120 
LGLLAFGALA LGLRMAIIET NLEQLWVEVG SRVSQELHYT KEKLGEEAAY TSQMLIQTAR 

       130        140        150        160        170        180 
QEGENILTPE ALGLHLQAAL TASKVQVSLY GKSWDLNKIC YKSGVPLIEN GMIERMIEKL 

       190        200        210        220        230        240 
FPCVILTPLD CFWEGAKLQG GSAYLPGRPD IQWTNLDPEQ LLEELGPFAS LEGFRELLDK 

       250        260        270        280        290        300 
AQVGQAYVGR PCLHPDDLHC PPSAPNHHSR QAPNVAHELS GGCHGFSHKF MHWQEELLLG 

       310        320        330        340        350        360 
GMARDPQGEL LRAEALQSTF LLMSPRQLYE HFRGDYQTHD IGWSEEQAST VLQAWQRRFV 

       370        380        390        400        410        420 
QLAQEALPEN ASQQIHAFSS TTLDDILHAF SEVSAARVVG GYLLMLAYAC VTMLRWDCAQ 

       430        440        450        460        470        480 
SQGSVGLAGV LLVALAVASG LGLCALLGIT FNAATTQVLP FLALGIGVDD VFLLAHAFTE 

       490        500        510        520        530        540 
ALPGTPLQER MGECLQRTGT SVVLTSINNM AAFLMAALVP IPALRAFSLQ AAIVVGCTFV 

       550        560        570        580        590        600 
AVMLVFPAIL SLDLRRRHCQ RLDVLCCFSS PCSAQVIQIL PQELGDGTVP VGIAHLTATV 

       610        620        630        640        650        660 
QAFTHCEASS QHVVTILPPQ AHLVPPPSDP LGSELFSPGG STRDLLGQEE ETRQKAACKS 

       670        680        690        700        710        720 
LPCARWNLAH FARYQFAPLL LQSHAKAIVL VLFGALLGLS LYGATLVQDG LALTDVVPRG 

       730        740        750        760        770        780 
TKEHAFLSAQ LRYFSLYEVA LVTQGGFDYA HSQRALFDLH QRFSSLKAVL PPPATQAPRT 

       790        800        810        820        830        840 
WLHYYRNWLQ GIQAAFDQDW ASGRITRHSY RNGSEDGALA YKLLIQTGDA QEPLDFSQLT 

       850        860        870        880        890        900 
TRKLVDREGL IPPELFYMGL TVWVSSDPLG LAASQANFYP PPPEWLHDKY DTTGENLRIP 

       910        920        930        940        950        960 
PAQPLEFAQF PFLLRGLQKT ADFVEAIEGA RAACAEAGQA GVHAYPSGSP FLFWEQYLGL 

       970        980        990       1000       1010       1020 
RRCFLLAVCI LLVCTFLVCA LLLLNPWTAG LIVLVLAMMT VELFGIMGFL GIKLSAIPVV 

      1030       1040       1050       1060       1070       1080 
ILVASVGIGV EFTVHVALGF LTTQGSRNLR AAHALEHTFA PVTDGAISTL LGLLMLAGSH 

      1090       1100       1110       1120       1130       1140 
FDFIVRYFFA ALTVLTLLGL LHGLVLLPVL LSILGPPPEV IQMYKESPEI LSPPAPQGGG 

      1150       1160       1170       1180       1190       1200 
LRWGASSSLP QSFARVTTSM TVAIHPPPLP GAYIHPAPDE PPWSPAATSS GNLSSRGPGP 


ATG 

« Hide

Isoform 2 [UniParc].

Checksum: FC9A05E2E37C455F
Show »

FASTA1,146124,909

References

« Hide 'large scale' references
[1]"Characterization of two patched receptors for the vertebrate hedgehog protein family."
Carpenter D., Stone D.M., Brush J., Ryan A., Armanini M., Frantz G., Rosenthal A., de Sauvage F.J.
Proc. Natl. Acad. Sci. U.S.A. 95:13630-13634(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32."
Smyth I., Narang M.A., Evans T., Heimann C., Nakamura Y., Chenevix-Trench G., Pietsch T., Wicking C., Wainwright B.J.
Hum. Mol. Genet. 8:291-297(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MDB AND BCC.
[3]"PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas."
Zaphiropoulos P.G., Unden A.B., Rahnama F., Hollingsworth R.E., Toftgard R.
Cancer Res. 59:787-792(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[4]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]NIEHS SNPs program
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-346; LYS-493; TYR-622; MET-988; MET-1019 AND MET-1121.
[6]"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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF091501 mRNA. Translation: AAC79847.1.
AF087651 mRNA. Translation: AAD25953.1.
AF119569 mRNA. Translation: AAD17260.1.
AY358555 mRNA. Translation: AAQ88919.1.
AY359016 mRNA. Translation: AAQ89375.1.
AY438664 Genomic DNA. Translation: AAR05447.1.
AL136380, AL592166 Genomic DNA. Translation: CAI23127.1.
AL592166, AL136380 Genomic DNA. Translation: CAI13000.1.
CCDSCCDS516.1. [Q9Y6C5-1]
CCDS53312.1. [Q9Y6C5-2]
RefSeqNP_001159764.1. NM_001166292.1. [Q9Y6C5-2]
NP_003729.3. NM_003738.4. [Q9Y6C5-1]
UniGeneHs.591497.

3D structure databases

ProteinModelPortalQ9Y6C5.
SMRQ9Y6C5. Positions 968-1115.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114195. 3 interactions.
IntActQ9Y6C5. 1 interaction.
STRING9606.ENSP00000361266.

PTM databases

PhosphoSiteQ9Y6C5.

Polymorphism databases

DMDM12643356.

Proteomic databases

PaxDbQ9Y6C5.
PRIDEQ9Y6C5.

Protocols and materials databases

DNASU8643.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372192; ENSP00000361266; ENSG00000117425. [Q9Y6C5-1]
ENST00000447098; ENSP00000389703; ENSG00000117425. [Q9Y6C5-2]
GeneID8643.
KEGGhsa:8643.
UCSCuc010olf.2. human. [Q9Y6C5-1]
uc021omv.1. human. [Q9Y6C5-2]

Organism-specific databases

CTD8643.
GeneCardsGC01M045286.
HGNCHGNC:9586. PTCH2.
HPAHPA046839.
MIM155255. phenotype.
603673. gene.
605462. phenotype.
neXtProtNX_Q9Y6C5.
Orphanet141276. Commissural facial cleft.
PharmGKBPA33938.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG313603.
HOGENOMHOG000231331.
HOVERGENHBG003801.
InParanoidQ9Y6C5.
KOK11101.
OMAHCEASSQ.
OrthoDBEOG7HMS06.
PhylomeDBQ9Y6C5.
TreeFamTF106489.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
SignaLinkQ9Y6C5.

Gene expression databases

BgeeQ9Y6C5.
CleanExHS_PTCH2.
GenevestigatorQ9Y6C5.

Family and domain databases

InterProIPR003392. Patched.
IPR000731. SSD.
IPR004766. TM_rcpt_patched.
[Graphical view]
PfamPF02460. Patched. 1 hit.
[Graphical view]
TIGRFAMsTIGR00918. 2A060602. 1 hit.
PROSITEPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi8643.
NextBio32403.
PROQ9Y6C5.
SOURCESearch...

Entry information

Entry namePTC2_HUMAN
AccessionPrimary (citable) accession number: Q9Y6C5
Secondary accession number(s): O95341 expand/collapse secondary AC list , O95856, Q53Z57, Q5QP87, Q6UX14
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: January 24, 2001
Last modified: July 9, 2014
This is version 120 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