Seroatlas · Human Serome Atlas

PTCH2

Protein patched homolog 2

Also known as: PTC2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y6C5
Gene
PTCH2
Ensembl
ENSG00000117425
Chromosome
1
Canonical length
1203 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nucleoli,Plasma membrane

OverviewNCBI Gene

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 cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

1203 residues, UniProt reviewed canonical sequence.

>Q9Y6C5|PTCH2
     1  MTRSPPLREL PPSYTPPART AAPQILAGSL KAPLWLRAYF QGLLFSLGCG IQRHCGKVLF
    61  LGLLAFGALA LGLRMAIIET NLEQLWVEVG SRVSQELHYT KEKLGEEAAY TSQMLIQTAR
   121  QEGENILTPE ALGLHLQAAL TASKVQVSLY GKSWDLNKIC YKSGVPLIEN GMIERMIEKL
   181  FPCVILTPLD CFWEGAKLQG GSAYLPGRPD IQWTNLDPEQ LLEELGPFAS LEGFRELLDK
   241  AQVGQAYVGR PCLHPDDLHC PPSAPNHHSR QAPNVAHELS GGCHGFSHKF MHWQEELLLG
   301  GMARDPQGEL LRAEALQSTF LLMSPRQLYE HFRGDYQTHD IGWSEEQAST VLQAWQRRFV
   361  QLAQEALPEN ASQQIHAFSS TTLDDILHAF SEVSAARVVG GYLLMLAYAC VTMLRWDCAQ
   421  SQGSVGLAGV LLVALAVASG LGLCALLGIT FNAATTQVLP FLALGIGVDD VFLLAHAFTE
   481  ALPGTPLQER MGECLQRTGT SVVLTSINNM AAFLMAALVP IPALRAFSLQ AAIVVGCTFV
   541  AVMLVFPAIL SLDLRRRHCQ RLDVLCCFSS PCSAQVIQIL PQELGDGTVP VGIAHLTATV
   601  QAFTHCEASS QHVVTILPPQ AHLVPPPSDP LGSELFSPGG STRDLLGQEE ETRQKAACKS
   661  LPCARWNLAH FARYQFAPLL LQSHAKAIVL VLFGALLGLS LYGATLVQDG LALTDVVPRG
   721  TKEHAFLSAQ LRYFSLYEVA LVTQGGFDYA HSQRALFDLH QRFSSLKAVL PPPATQAPRT
   781  WLHYYRNWLQ GIQAAFDQDW ASGRITRHSY RNGSEDGALA YKLLIQTGDA QEPLDFSQLT
   841  TRKLVDREGL IPPELFYMGL TVWVSSDPLG LAASQANFYP PPPEWLHDKY DTTGENLRIP
   901  PAQPLEFAQF PFLLRGLQKT ADFVEAIEGA RAACAEAGQA GVHAYPSGSP FLFWEQYLGL
   961  RRCFLLAVCI LLVCTFLVCA LLLLNPWTAG LIVLVLAMMT VELFGIMGFL GIKLSAIPVV
  1021  ILVASVGIGV EFTVHVALGF LTTQGSRNLR AAHALEHTFA PVTDGAISTL LGLLMLAGSH
  1081  FDFIVRYFFA ALTVLTLLGL LHGLVLLPVL LSILGPPPEV IQMYKESPEI LSPPAPQGGG
  1141  LRWGASSSLP QSFARVTTSM TVAIHPPPLP GAYIHPAPDE PPWSPAATSS GNLSSRGPGP
  1201  ATG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTCH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
12
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
71 nTPM

Expression across tissuesHPA

Tissue

  • salivary gland: 71 nTPM
  • parathyroid gland: 56 nTPM
  • testis: 25 nTPM
  • ovary: 24 nTPM
  • cerebellum: 12 nTPM
  • pituitary gland: 9.2 nTPM

Single-cell type

  • leydig cells: 1,885 nCPM
  • peritubular myoid cells: 756 nCPM
  • salivary acinar cells: 238 nCPM
  • bergmann glia: 204 nCPM
  • sertoli cells: 163 nCPM
  • mucous neck cells: 110 nCPM

Immune cell

  • plasmacytoid DC: 3.6 nTPM
  • basophil: 2.5 nTPM
  • classical monocyte: 1.9 nTPM
  • naive B-cell: 1.4 nTPM
  • myeloid DC: 1.2 nTPM
  • MAIT T-cell: 1 nTPM

Brain region

  • cerebellum: 25 nTPM
  • hypothalamus: 25 nTPM
  • thalamus: 25 nTPM
  • basal ganglia: 23 nTPM
  • midbrain: 21 nTPM
  • cerebral cortex: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTCH2.

Disease | AllUniProt

Conditions PTCH2 is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 1,144 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on PTCH2 was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.85
gnomAD pLI
0
gnomAD missense Z
0.78
DepMap mean gene effect
-0.22
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PTCH2 as an antibody target. Whether an autoantibody or antibody against PTCH2 could matter depends on whether native PTCH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PTCH2 is annotated at the cell surface, where native PTCH2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PTCH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PTCH2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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