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Protein

Protein patched homolog 2

Gene

PTCH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  • hedgehog family protein binding Source: BHF-UCL
  • hedgehog receptor activity Source: BHF-UCL
  • smoothened binding Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117425-MONOMER.
ReactomeiR-HSA-373080. Class B/2 (Secretin family receptors).
SignaLinkiQ9Y6C5.
SIGNORiQ9Y6C5.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein patched homolog 2
Short name:
PTC2
Gene namesi
Name:PTCH2
ORF Names:UNQ560/PRO1121/PRO57079
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:9586. PTCH2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 57CytoplasmicSequence analysisAdd BLAST57
Transmembranei58 – 78HelicalSequence analysisAdd BLAST21
Topological domaini79 – 392ExtracellularSequence analysisAdd BLAST314
Transmembranei393 – 413HelicalSequence analysisAdd BLAST21
Topological domaini414 – 428CytoplasmicSequence analysisAdd BLAST15
Transmembranei429 – 449HelicalSequence analysisAdd BLAST21
Topological domaini450 – 457ExtracellularSequence analysis8
Transmembranei458 – 478HelicalSequence analysisAdd BLAST21
Topological domaini479 – 501CytoplasmicSequence analysisAdd BLAST23
Transmembranei502 – 522HelicalSequence analysisAdd BLAST21
Topological domaini523 – 531ExtracellularSequence analysis9
Transmembranei532 – 552HelicalSequence analysisAdd BLAST21
Topological domaini553 – 686CytoplasmicSequence analysisAdd BLAST134
Transmembranei687 – 707HelicalSequence analysisAdd BLAST21
Topological domaini708 – 963ExtracellularSequence analysisAdd BLAST256
Transmembranei964 – 984HelicalSequence analysisAdd BLAST21
Topological domaini985 – 991CytoplasmicSequence analysis7
Transmembranei992 – 1012HelicalSequence analysisAdd BLAST21
Topological domaini1013ExtracellularSequence analysis1
Transmembranei1014 – 1034HelicalSequence analysisAdd BLAST21
Topological domaini1035 – 1064CytoplasmicSequence analysisAdd BLAST30
Transmembranei1065 – 1085HelicalSequence analysisAdd BLAST21
Topological domaini1086 – 1093ExtracellularSequence analysis8
Transmembranei1094 – 1114HelicalSequence analysisAdd BLAST21
Topological domaini1115 – 1203CytoplasmicSequence analysisAdd BLAST89

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Medulloblastoma (MDB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMalignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
See also OMIM:155255
Basal cell carcinoma (BCC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:605462

Organism-specific databases

DisGeNETi8643.
MalaCardsiPTCH2.
MIMi155255. phenotype.
605462. phenotype.
OpenTargetsiENSG00000117425.
Orphaneti141276. Commissural facial cleft.
PharmGKBiPA33938.

Polymorphism and mutation databases

BioMutaiPTCH2.
DMDMi12643356.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002059701 – 1203Protein patched homolog 2Add BLAST1203

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi370N-linked (GlcNAc...)Sequence analysis1
Glycosylationi812N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y6C5.
PeptideAtlasiQ9Y6C5.
PRIDEiQ9Y6C5.

PTM databases

iPTMnetiQ9Y6C5.
PhosphoSitePlusiQ9Y6C5.

Expressioni

Gene expression databases

BgeeiENSG00000117425.
CleanExiHS_PTCH2.
ExpressionAtlasiQ9Y6C5. baseline and differential.
GenevisibleiQ9Y6C5. HS.

Organism-specific databases

HPAiHPA046839.

Interactioni

GO - Molecular functioni

  • hedgehog family protein binding Source: BHF-UCL
  • smoothened binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi114195. 2 interactors.
IntActiQ9Y6C5. 1 interactor.
STRINGi9606.ENSP00000361266.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6C5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini394 – 552SSDPROSITE-ProRule annotationAdd BLAST159

Sequence similaritiesi

Belongs to the patched family.Curated
Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1935. Eukaryota.
ENOG410XRKU. LUCA.
GeneTreeiENSGT00800000124043.
HOGENOMiHOG000231331.
HOVERGENiHBG003801.
InParanoidiQ9Y6C5.
KOiK11101.
OMAiGAYIHPA.
OrthoDBiEOG091G0LGQ.
PhylomeDBiQ9Y6C5.
TreeFamiTF106489.

Family and domain databases

InterProiIPR003392. Ptc/Disp.
IPR000731. SSD.
IPR004766. TM_rcpt_patched.
[Graphical view]
PfamiPF02460. Patched. 1 hit.
PF12349. Sterol-sensing. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00918. 2A060602. 1 hit.
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y6C5-1) [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
MTRSPPLREL PPSYTPPART AAPQILAGSL KAPLWLRAYF QGLLFSLGCG
60 70 80 90 100
IQRHCGKVLF LGLLAFGALA LGLRMAIIET NLEQLWVEVG SRVSQELHYT
110 120 130 140 150
KEKLGEEAAY TSQMLIQTAR QEGENILTPE ALGLHLQAAL TASKVQVSLY
160 170 180 190 200
GKSWDLNKIC YKSGVPLIEN GMIERMIEKL FPCVILTPLD CFWEGAKLQG
210 220 230 240 250
GSAYLPGRPD IQWTNLDPEQ LLEELGPFAS LEGFRELLDK AQVGQAYVGR
260 270 280 290 300
PCLHPDDLHC PPSAPNHHSR QAPNVAHELS GGCHGFSHKF MHWQEELLLG
310 320 330 340 350
GMARDPQGEL LRAEALQSTF LLMSPRQLYE HFRGDYQTHD IGWSEEQAST
360 370 380 390 400
VLQAWQRRFV QLAQEALPEN ASQQIHAFSS TTLDDILHAF SEVSAARVVG
410 420 430 440 450
GYLLMLAYAC VTMLRWDCAQ SQGSVGLAGV LLVALAVASG LGLCALLGIT
460 470 480 490 500
FNAATTQVLP FLALGIGVDD VFLLAHAFTE ALPGTPLQER MGECLQRTGT
510 520 530 540 550
SVVLTSINNM AAFLMAALVP IPALRAFSLQ AAIVVGCTFV AVMLVFPAIL
560 570 580 590 600
SLDLRRRHCQ RLDVLCCFSS PCSAQVIQIL PQELGDGTVP VGIAHLTATV
610 620 630 640 650
QAFTHCEASS QHVVTILPPQ AHLVPPPSDP LGSELFSPGG STRDLLGQEE
660 670 680 690 700
ETRQKAACKS LPCARWNLAH FARYQFAPLL LQSHAKAIVL VLFGALLGLS
710 720 730 740 750
LYGATLVQDG LALTDVVPRG TKEHAFLSAQ LRYFSLYEVA LVTQGGFDYA
760 770 780 790 800
HSQRALFDLH QRFSSLKAVL PPPATQAPRT WLHYYRNWLQ GIQAAFDQDW
810 820 830 840 850
ASGRITRHSY RNGSEDGALA YKLLIQTGDA QEPLDFSQLT TRKLVDREGL
860 870 880 890 900
IPPELFYMGL TVWVSSDPLG LAASQANFYP PPPEWLHDKY DTTGENLRIP
910 920 930 940 950
PAQPLEFAQF PFLLRGLQKT ADFVEAIEGA RAACAEAGQA GVHAYPSGSP
960 970 980 990 1000
FLFWEQYLGL RRCFLLAVCI LLVCTFLVCA LLLLNPWTAG LIVLVLAMMT
1010 1020 1030 1040 1050
VELFGIMGFL GIKLSAIPVV ILVASVGIGV EFTVHVALGF LTTQGSRNLR
1060 1070 1080 1090 1100
AAHALEHTFA PVTDGAISTL LGLLMLAGSH FDFIVRYFFA ALTVLTLLGL
1110 1120 1130 1140 1150
LHGLVLLPVL LSILGPPPEV IQMYKESPEI LSPPAPQGGG LRWGASSSLP
1160 1170 1180 1190 1200
QSFARVTTSM TVAIHPPPLP GAYIHPAPDE PPWSPAATSS GNLSSRGPGP

ATG
Length:1,203
Mass (Da):130,544
Last modified:January 24, 2001 - v2
Checksum:i4FAB06999782C031
GO
Isoform 2 (identifier: Q9Y6C5-2) [UniParc]FASTAAdd to basket

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

Show »
Length:1,146
Mass (Da):124,909
Checksum:iFC9A05E2E37C455F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2T → N in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti120R → L in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti175R → W in AAC79847 (PubMed:9811851).Curated1
Sequence conflicti175R → W in AAQ88919 (PubMed:12975309).Curated1
Sequence conflicti175R → W in AAQ89375 (PubMed:12975309).Curated1
Sequence conflicti753Q → R in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti787N → S in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti833P → L in AAD17260 (PubMed:10029063).Curated1
Sequence conflicti837S → G in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti846D → E in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti897L → F in AAD17260 (PubMed:10029063).Curated1
Sequence conflicti1203G → GDYKDDDDK in AAQ88919 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018935346E → Q.1 PublicationCorresponds to variant rs11573578dbSNPEnsembl.1
Natural variantiVAR_018936493E → K.1 PublicationCorresponds to variant rs11573581dbSNPEnsembl.1
Natural variantiVAR_018937622H → Y.1 PublicationCorresponds to variant rs11573586dbSNPEnsembl.1
Natural variantiVAR_018938988T → M.1 PublicationCorresponds to variant rs11573590dbSNPEnsembl.1
Natural variantiVAR_050466995V → M.Corresponds to variant rs11573591dbSNPEnsembl.1
Natural variantiVAR_0189391019V → M.1 PublicationCorresponds to variant rs11573591dbSNPEnsembl.1
Natural variantiVAR_0189401121I → M.1 PublicationCorresponds to variant rs11573598dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0045421143 – 1203WGASS…GPATG → PEEI in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS516.1. [Q9Y6C5-1]
CCDS53312.1. [Q9Y6C5-2]
RefSeqiNP_001159764.1. NM_001166292.1. [Q9Y6C5-2]
NP_003729.3. NM_003738.4. [Q9Y6C5-1]
UniGeneiHs.591497.

Genome annotation databases

EnsembliENST00000372192; ENSP00000361266; ENSG00000117425. [Q9Y6C5-1]
ENST00000447098; ENSP00000389703; ENSG00000117425. [Q9Y6C5-2]
GeneIDi8643.
KEGGihsa:8643.
UCSCiuc010olf.3. human. [Q9Y6C5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS516.1. [Q9Y6C5-1]
CCDS53312.1. [Q9Y6C5-2]
RefSeqiNP_001159764.1. NM_001166292.1. [Q9Y6C5-2]
NP_003729.3. NM_003738.4. [Q9Y6C5-1]
UniGeneiHs.591497.

3D structure databases

ProteinModelPortaliQ9Y6C5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114195. 2 interactors.
IntActiQ9Y6C5. 1 interactor.
STRINGi9606.ENSP00000361266.

PTM databases

iPTMnetiQ9Y6C5.
PhosphoSitePlusiQ9Y6C5.

Polymorphism and mutation databases

BioMutaiPTCH2.
DMDMi12643356.

Proteomic databases

PaxDbiQ9Y6C5.
PeptideAtlasiQ9Y6C5.
PRIDEiQ9Y6C5.

Protocols and materials databases

DNASUi8643.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372192; ENSP00000361266; ENSG00000117425. [Q9Y6C5-1]
ENST00000447098; ENSP00000389703; ENSG00000117425. [Q9Y6C5-2]
GeneIDi8643.
KEGGihsa:8643.
UCSCiuc010olf.3. human. [Q9Y6C5-1]

Organism-specific databases

CTDi8643.
DisGeNETi8643.
GeneCardsiPTCH2.
HGNCiHGNC:9586. PTCH2.
HPAiHPA046839.
MalaCardsiPTCH2.
MIMi155255. phenotype.
603673. gene.
605462. phenotype.
neXtProtiNX_Q9Y6C5.
OpenTargetsiENSG00000117425.
Orphaneti141276. Commissural facial cleft.
PharmGKBiPA33938.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1935. Eukaryota.
ENOG410XRKU. LUCA.
GeneTreeiENSGT00800000124043.
HOGENOMiHOG000231331.
HOVERGENiHBG003801.
InParanoidiQ9Y6C5.
KOiK11101.
OMAiGAYIHPA.
OrthoDBiEOG091G0LGQ.
PhylomeDBiQ9Y6C5.
TreeFamiTF106489.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117425-MONOMER.
ReactomeiR-HSA-373080. Class B/2 (Secretin family receptors).
SignaLinkiQ9Y6C5.
SIGNORiQ9Y6C5.

Miscellaneous databases

GenomeRNAii8643.
PROiQ9Y6C5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117425.
CleanExiHS_PTCH2.
ExpressionAtlasiQ9Y6C5. baseline and differential.
GenevisibleiQ9Y6C5. HS.

Family and domain databases

InterProiIPR003392. Ptc/Disp.
IPR000731. SSD.
IPR004766. TM_rcpt_patched.
[Graphical view]
PfamiPF02460. Patched. 1 hit.
PF12349. Sterol-sensing. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00918. 2A060602. 1 hit.
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPTC2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6C5
Secondary accession number(s): O95341
, O95856, Q53Z57, Q5QP87, Q6UX14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: January 24, 2001
Last modified: November 2, 2016
This is version 143 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.