• Gene id: 8643

Gene Summary

• Gene Symbol: PTCH2   Gene   UCSC   Ensembl
• Aliases: PTC2
• Gene name: patched 2
• Alternate names: protein patched homolog 2, patched homolog 2,
• Gene location: 1p34.1 (44843252: 44819843)     Exons: 23     NC_000001.11
• Gene summary(Entrez): This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal
• OMIM: 603673

Protein Summary

• Protein general information: Q9Y6C5  
  • Name: Protein patched homolog 2 (PTC2)
  • Length: 1203  
  • Mass: 130544
• Sequence:

  MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLFLGLLAFGALALGLRM
  AIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTARQEGENILTPEALGLHLQAALTASKVQVSLY
  GKSWDLNKICYKSGVPLIENGMIERMIEKLFPCVILTPLDCFWEGAKLQGGSAYLPGRPDIQWTNLDPEQLLEEL
  GPFASLEGFRELLDKAQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELSGGCHGFSHKFMHWQEELLLG
  GMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQASTVLQAWQRRFVQLAQEALPENASQQI
  HAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQSQGSVGLAGVLLVALAVASGLGLCALLGIT
  FNAATTQVLPFLALGIGVDDVFLLAHAFTEALPGTPLQERMGECLQRTGTSVVLTSINNMAAFLMAALVPIPALR
  AFSLQAAIVVGCTFVAVMLVFPAILSLDLRRRHCQRLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATV
  QAFTHCEASSQHVVTILPPQAHLVPPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKSLPCARWNLAHFARYQ
  FAPLLLQSHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRGTKEHAFLSAQLRYFSLYEVALVTQGGFDYA
  HSQRALFDLHQRFSSLKAVLPPPATQAPRTWLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLI
  QTGDAQEPLDFSQLTTRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIP
  PAQPLEFAQFPFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGLRRCFLLAVCILLVCT
  FLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVVILVASVGIGVEFTVHVALGFLTTQGSRNLR
  AAHALEHTFAPVTDGAISTLLGLLMLAGSHFDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEVIQMYK
  ESPEILSPPAPQGGGLRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGP
  ATG

• Structural information:
  • Protein Domains: (394..55-)
    (/note="SSD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00199"-)
  • Interpro: IPR003392  IPR000731  IPR004766  
  • Prosite: PS50156
  • STRING: ENSP00000361266
• Other Databases: GeneCards:  PTCH2  Malacards:  PTCH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005119	smoothened binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0097108	hedgehog family protein binding	IBA	molecular function
GO:0008158	hedgehog receptor activity	IBA	molecular function
GO:0001558	regulation of cell growth	IMP	biological process
GO:0008158	hedgehog receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045606	positive regulation of epidermal cell differentiation	IEA	biological process
GO:0042633	hair cycle	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0001709	cell fate determination	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0009957	epidermal cell fate specification	IEA	biological process
GO:0008158	hedgehog receptor activity	TAS	molecular function
GO:0005119	smoothened binding	IPI	molecular function
GO:0097108	hedgehog family protein binding	TAS	molecular function
GO:0097108	hedgehog family protein binding	IPI	molecular function
GO:0097108	hedgehog family protein binding	IPI	molecular function
GO:0097108	hedgehog family protein binding	IPI	molecular function
GO:0045879	negative regulation of smoothened signaling pathway	TAS	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05217	Basal cell carcinoma
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Basal cell nevus syndrome	KEGG:H00895
Basal cell nevus syndrome	KEGG:H00895
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq