Q9Y6C5 · PTC2_HUMAN

  • Protein
    Protein patched homolog 2
  • Gene
    PTCH2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Plays a role in the control of cellular growth (PubMed:18285427).
May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentplasma membrane
Molecular Functionhedgehog family protein binding
Molecular Functionhedgehog receptor activity
Molecular Functionsmoothened binding
Biological Processcell fate determination
Biological Processepidermal cell fate specification
Biological Processhair cycle
Biological Processnegative regulation of smoothened signaling pathway
Biological Processpositive regulation of epidermal cell differentiation
Biological Processregulation of cell growth
Biological Processskin development

Keywords

Enzyme and pathway databases

Protein family/group databases

    • 2.A.6.6.14the resistance-nodulation-cell division (rnd) superfamily

Names & Taxonomy

Protein names

  • Recommended name
    Protein patched homolog 2
  • Short names
    PTC2

Gene names

    • Name
      PTCH2
    • ORF names
      UNQ560/PRO1121/PRO57079

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q9Y6C5
  • Secondary accessions
    • O95341
    • O95856
    • Q53Z57
    • Q5QP87
    • Q6UX14

Proteomes

Organism-specific databases

Subcellular Location

Features

Showing features for topological domain, transmembrane.

TypeIDPosition(s)Description
Topological domain1-57Cytoplasmic
Transmembrane58-78Helical
Topological domain79-392Extracellular
Transmembrane393-413Helical
Topological domain414-428Cytoplasmic
Transmembrane429-449Helical
Topological domain450-457Extracellular
Transmembrane458-478Helical
Topological domain479-501Cytoplasmic
Transmembrane502-522Helical
Topological domain523-531Extracellular
Transmembrane532-552Helical
Topological domain553-686Cytoplasmic
Transmembrane687-707Helical
Topological domain708-963Extracellular
Transmembrane964-984Helical
Topological domain985-991Cytoplasmic
Transmembrane992-1012Helical
Topological domain1013Extracellular
Transmembrane1014-1034Helical
Topological domain1035-1064Cytoplasmic
Transmembrane1065-1085Helical
Topological domain1086-1093Extracellular
Transmembrane1094-1114Helical
Topological domain1115-1203Cytoplasmic

Keywords

Disease & Variants

Involvement in disease

Medulloblastoma (MDB)

  • Note
    • Disease susceptibility may be associated with variants affecting the gene represented in this entry
  • Description
    Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
  • See also
    MIM:155255

Basal cell carcinoma (BCC)

  • Note
    • Disease susceptibility may be associated with variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:605462

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_018935346in dbSNP:rs11573578
Natural variantVAR_018936493in dbSNP:rs11573581
Natural variantVAR_018937622in dbSNP:rs11573586
Natural variantVAR_081391719found in a family with nevoid basal cell carcinoma syndrome; uncertain significance; does not inhibit cell growth when overexpressed in vitro; dbSNP:rs121434397
Natural variantVAR_018938988in dbSNP:rs11573590
Natural variantVAR_050466995in dbSNP:rs11573591
Natural variantVAR_0189391019in dbSNP:rs11573591
Natural variantVAR_0189401121in dbSNP:rs11573598

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 2,325 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, glycosylation.

TypeIDPosition(s)Description
ChainPRO_00002059701-1203Protein patched homolog 2
Glycosylation370N-linked (GlcNAc...) asparagine
Glycosylation812N-linked (GlcNAc...) asparagine

Keywords

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

Interaction

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for domain, region, compositional bias.

TypeIDPosition(s)Description
Domain394-552SSD
Region1171-1203Disordered
Compositional bias1185-1203Polar residues

Sequence similarities

Belongs to the patched family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

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.

  • Length
    1,203
  • Mass (Da)
    130,544
  • Last updated
    2001-01-24 v2
  • Checksum
    4FAB06999782C031
MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLFLGLLAFGALALGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTARQEGENILTPEALGLHLQAALTASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKLFPCVILTPLDCFWEGAKLQGGSAYLPGRPDIQWTNLDPEQLLEELGPFASLEGFRELLDKAQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELSGGCHGFSHKFMHWQEELLLGGMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQASTVLQAWQRRFVQLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQSQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTEALPGTPLQERMGECLQRTGTSVVLTSINNMAAFLMAALVPIPALRAFSLQAAIVVGCTFVAVMLVFPAILSLDLRRRHCQRLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATVQAFTHCEASSQHVVTILPPQAHLVPPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKSLPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRGTKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVLPPPATQAPRTWLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLTTRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIPPAQPLEFAQFPFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGLRRCFLLAVCILLVCTFLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVVILVASVGIGVEFTVHVALGFLTTQGSRNLRAAHALEHTFAPVTDGAISTLLGLLMLAGSHFDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEVIQMYKESPEILSPPAPQGGGLRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGPATG

Q9Y6C5-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 1143-1203: WGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGPATG → PEEI

Computationally mapped potential isoform sequences

There is 1 potential isoform mapped to this entry

View all
EntryEntry nameGene nameLength
H0Y7J2H0Y7J2_HUMANPTCH288

Features

Showing features for sequence conflict, alternative sequence, compositional bias.

TypeIDPosition(s)Description
Sequence conflict2in Ref. 2; AAD25953
Sequence conflict120in Ref. 2; AAD25953
Sequence conflict175in Ref. 1; AAC79847 and 4; AAQ88919/AAQ89375
Sequence conflict753in Ref. 2; AAD25953
Sequence conflict787in Ref. 2; AAD25953
Sequence conflict833in Ref. 3; AAD17260
Sequence conflict837in Ref. 2; AAD25953
Sequence conflict846in Ref. 2; AAD25953
Sequence conflict897in Ref. 3; AAD17260
Alternative sequenceVSP_0045421143-1203in isoform 2
Compositional bias1185-1203Polar residues
Sequence conflict1203in Ref. 4; AAQ88919

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AF091501
EMBL· GenBank· DDBJ
AAC79847.1
EMBL· GenBank· DDBJ
mRNA
AF087651
EMBL· GenBank· DDBJ
AAD25953.1
EMBL· GenBank· DDBJ
mRNA
AF119569
EMBL· GenBank· DDBJ
AAD17260.1
EMBL· GenBank· DDBJ
mRNA
AY358555
EMBL· GenBank· DDBJ
AAQ88919.1
EMBL· GenBank· DDBJ
mRNA
AY359016
EMBL· GenBank· DDBJ
AAQ89375.1
EMBL· GenBank· DDBJ
mRNA
AY438664
EMBL· GenBank· DDBJ
AAR05447.1
EMBL· GenBank· DDBJ
Genomic DNA
AL136380
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL592166
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.

Genome annotation databases

Similar Proteins

Disclaimer

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