Details for: PTCH2

Gene ID: 8643

Symbol: PTCH2

Ensembl ID: ENSG00000117425

Description: patched 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 90.8417
    Cell Significance Index: -14.1300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 54.4465
    Cell Significance Index: -13.8100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 28.3834
    Cell Significance Index: -14.6000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.6265
    Cell Significance Index: -14.3400
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 7.6080
    Cell Significance Index: 37.9600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6619
    Cell Significance Index: -14.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.1111
    Cell Significance Index: 62.3500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1105
    Cell Significance Index: 222.7700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.0655
    Cell Significance Index: 306.5900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.8067
    Cell Significance Index: 14.9100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7085
    Cell Significance Index: 254.1300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.6526
    Cell Significance Index: 14.2900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5952
    Cell Significance Index: 22.5400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5685
    Cell Significance Index: 36.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5567
    Cell Significance Index: 16.0400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5150
    Cell Significance Index: 22.7800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4255
    Cell Significance Index: 42.0900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.4185
    Cell Significance Index: 5.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3888
    Cell Significance Index: 26.1400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3778
    Cell Significance Index: 341.1000
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 0.3637
    Cell Significance Index: 3.6400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3196
    Cell Significance Index: 19.1900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2974
    Cell Significance Index: 18.2800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2877
    Cell Significance Index: 13.0400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2847
    Cell Significance Index: 30.9700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2441
    Cell Significance Index: 168.8100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2363
    Cell Significance Index: 38.4300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2294
    Cell Significance Index: 4.9700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1922
    Cell Significance Index: 8.9600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1876
    Cell Significance Index: 4.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1843
    Cell Significance Index: 35.0700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.1811
    Cell Significance Index: 2.5400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1786
    Cell Significance Index: 24.5200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1568
    Cell Significance Index: 3.0600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1524
    Cell Significance Index: 4.3500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1451
    Cell Significance Index: 4.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1362
    Cell Significance Index: 60.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1041
    Cell Significance Index: 18.7700
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.0987
    Cell Significance Index: 0.5800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0959
    Cell Significance Index: 6.6300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0835
    Cell Significance Index: 16.5800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0581
    Cell Significance Index: 2.7300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0354
    Cell Significance Index: 1.2500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0239
    Cell Significance Index: 0.4000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0202
    Cell Significance Index: 11.0400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0084
    Cell Significance Index: 1.0300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.0028
    Cell Significance Index: 0.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0022
    Cell Significance Index: 0.2600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0021
    Cell Significance Index: 0.9400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0015
    Cell Significance Index: 2.7700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0006
    Cell Significance Index: 0.9600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0026
    Cell Significance Index: -3.5700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0050
    Cell Significance Index: -9.2500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0085
    Cell Significance Index: -5.3800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0111
    Cell Significance Index: -0.3100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0140
    Cell Significance Index: -0.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0150
    Cell Significance Index: -1.9200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0162
    Cell Significance Index: -11.9900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0164
    Cell Significance Index: -12.4400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0179
    Cell Significance Index: -13.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0241
    Cell Significance Index: -13.5800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0368
    Cell Significance Index: -0.7800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0370
    Cell Significance Index: -5.3800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0456
    Cell Significance Index: -0.6400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0599
    Cell Significance Index: -10.2300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0717
    Cell Significance Index: -8.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0732
    Cell Significance Index: -15.4200
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0767
    Cell Significance Index: -1.2300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0776
    Cell Significance Index: -10.0300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0802
    Cell Significance Index: -2.5700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0839
    Cell Significance Index: -6.4400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0910
    Cell Significance Index: -2.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0940
    Cell Significance Index: -10.7700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1038
    Cell Significance Index: -2.2100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1089
    Cell Significance Index: -1.5600
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.1141
    Cell Significance Index: -1.5400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1142
    Cell Significance Index: -11.6700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1151
    Cell Significance Index: -2.3100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1171
    Cell Significance Index: -3.7300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1229
    Cell Significance Index: -2.4300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1251
    Cell Significance Index: -3.2900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1278
    Cell Significance Index: -2.2100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1291
    Cell Significance Index: -3.7000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1301
    Cell Significance Index: -13.5500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1340
    Cell Significance Index: -3.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1346
    Cell Significance Index: -9.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1440
    Cell Significance Index: -7.4800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1457
    Cell Significance Index: -3.1500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1503
    Cell Significance Index: -1.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1507
    Cell Significance Index: -9.2400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1693
    Cell Significance Index: -12.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1779
    Cell Significance Index: -11.2100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2026
    Cell Significance Index: -10.6400
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.2053
    Cell Significance Index: -1.2700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2125
    Cell Significance Index: -1.4400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2187
    Cell Significance Index: -5.4600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2258
    Cell Significance Index: -7.9100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.2439
    Cell Significance Index: -10.6100
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.2514
    Cell Significance Index: -3.2600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2559
    Cell Significance Index: -5.3400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Structure:** The PTC2 gene is a single-pass transmembrane protein, belonging to the Patched family of proteins. It consists of seven transmembrane domains and is typically expressed on the plasma membrane. 2. **Function:** PTC2 acts as a negative regulator of the Hedgehog signaling pathway, binding to the Hedgehog ligands and preventing them from interacting with the Smoothened receptor. This interaction inhibits the activation of the Smoothened receptor, thereby suppressing the downstream signaling events. 3. **Expression:** PTC2 is widely expressed in various tissues, including the skin, brain, and testes. It is highly expressed in cells involved in epidermal development, such as keratinocytes and melanocytes. 4. **Homology:** PTC2 shares high sequence homology with the Patched 1 (PTCH1) gene, which is also a key component of the Hedgehog signaling pathway. **Pathways and Functions:** 1. **Hedgehog Signaling:** PTC2 is a negative regulator of the Hedgehog signaling pathway, which is involved in regulating cell fate determination, epidermal cell fate specification, and skin development. 2. **Cell Fate Determination:** PTC2 plays a crucial role in regulating the fate of cells during development, particularly in the epidermis. It helps to maintain the balance between cell proliferation and differentiation. 3. **Epidermal Cell Fate Specification:** PTC2 is essential for the specification of epidermal cell fate, including the differentiation of keratinocytes and melanocytes. 4. **Regulation of Cell Growth:** PTC2 helps to regulate cell growth and proliferation by modulating the Hedgehog signaling pathway. 5. **Signaling by GPCR:** PTC2 is also involved in signaling by G protein-coupled receptors (GPCRs), which are a large family of receptors that respond to a wide range of ligands. **Clinical Significance:** 1. **Skin Development Disorders:** Mutations in the PTC2 gene have been associated with skin development disorders, such as epidermal dysplasias and skin cancer. 2. **Neurodevelopmental Disorders:** Abnormal expression of PTC2 has been linked to neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 3. **Cancer:** The Hedgehog signaling pathway, in which PTC2 plays a key role, is often dysregulated in cancer, leading to uncontrolled cell growth and tumor formation. 4. **Immunological Disorders:** PTC2 has also been implicated in immunological disorders, such as autoimmune diseases and allergies, due to its role in regulating the Hedgehog signaling pathway. In conclusion, the PTC2 gene is a critical component of the Hedgehog signaling pathway, playing a significant role in regulating cell fate determination, epidermal cell fate specification, and skin development. Its dysregulation has been implicated in various human diseases, highlighting the importance of further research into the PTC2 gene and its potential therapeutic applications.

Genular Protein ID: 3477337197

Symbol: PTC2_HUMAN

Name: Protein patched homolog 2

UniProtKB Accession Codes:

Q9Y6C5 O95341 O95856 Q53Z57 Q5QP87 Q6UX14

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 6 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9811851

Title: Characterization of two patched receptors for the vertebrate hedgehog protein family.

PubMed ID: 9811851

DOI: 10.1073/pnas.95.23.13630

PubMed ID: 9931336

Title: Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32.

PubMed ID: 9931336

DOI: 10.1093/hmg/8.2.291

PubMed ID: 10029063

Title: PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas.

PubMed ID: 10029063

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 18285427

Title: A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.

PubMed ID: 18285427

DOI: 10.1136/jmg.2007.055343

Sequence Information:

  • Length: 1203
  • Mass: 130544
  • Checksum: 4FAB06999782C031
  • Sequence:
    • MTRSPPLREL PPSYTPPART AAPQILAGSL KAPLWLRAYF QGLLFSLGCG IQRHCGKVLF 
LGLLAFGALA LGLRMAIIET NLEQLWVEVG SRVSQELHYT KEKLGEEAAY TSQMLIQTAR 
QEGENILTPE ALGLHLQAAL TASKVQVSLY GKSWDLNKIC YKSGVPLIEN GMIERMIEKL 
FPCVILTPLD CFWEGAKLQG GSAYLPGRPD IQWTNLDPEQ LLEELGPFAS LEGFRELLDK 
AQVGQAYVGR PCLHPDDLHC PPSAPNHHSR QAPNVAHELS GGCHGFSHKF MHWQEELLLG 
GMARDPQGEL LRAEALQSTF LLMSPRQLYE HFRGDYQTHD IGWSEEQAST VLQAWQRRFV 
QLAQEALPEN ASQQIHAFSS TTLDDILHAF SEVSAARVVG GYLLMLAYAC VTMLRWDCAQ 
SQGSVGLAGV LLVALAVASG LGLCALLGIT FNAATTQVLP FLALGIGVDD VFLLAHAFTE 
ALPGTPLQER MGECLQRTGT SVVLTSINNM AAFLMAALVP IPALRAFSLQ AAIVVGCTFV 
AVMLVFPAIL SLDLRRRHCQ RLDVLCCFSS PCSAQVIQIL PQELGDGTVP VGIAHLTATV 
QAFTHCEASS QHVVTILPPQ AHLVPPPSDP LGSELFSPGG STRDLLGQEE ETRQKAACKS 
LPCARWNLAH FARYQFAPLL LQSHAKAIVL VLFGALLGLS LYGATLVQDG LALTDVVPRG 
TKEHAFLSAQ LRYFSLYEVA LVTQGGFDYA HSQRALFDLH QRFSSLKAVL PPPATQAPRT 
WLHYYRNWLQ GIQAAFDQDW ASGRITRHSY RNGSEDGALA YKLLIQTGDA QEPLDFSQLT 
TRKLVDREGL IPPELFYMGL TVWVSSDPLG LAASQANFYP PPPEWLHDKY DTTGENLRIP 
PAQPLEFAQF PFLLRGLQKT ADFVEAIEGA RAACAEAGQA GVHAYPSGSP FLFWEQYLGL 
RRCFLLAVCI LLVCTFLVCA LLLLNPWTAG LIVLVLAMMT VELFGIMGFL GIKLSAIPVV 
ILVASVGIGV EFTVHVALGF LTTQGSRNLR AAHALEHTFA PVTDGAISTL LGLLMLAGSH 
FDFIVRYFFA ALTVLTLLGL LHGLVLLPVL LSILGPPPEV IQMYKESPEI LSPPAPQGGG 
LRWGASSSLP QSFARVTTSM TVAIHPPPLP GAYIHPAPDE PPWSPAATSS GNLSSRGPGP 
ATG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.