LOCUS       NM_003738               4410 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.
ACCESSION   NM_003738
VERSION     NM_003738.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4410)
  AUTHORS   Liang,X., He,Q., Jiao,Y., Yang,H., Huang,W., Liu,K., Lin,H., Xu,L.,
            Hou,Y., Ding,Y., Zhang,Y., Huang,H. and Zhao,H.
  TITLE     Identification of rare variants in PTCH2 associated with
            non-syndromic orofacial clefts
  JOURNAL   Gene 907, 148280 (2024)
   PUBMED   38360123
  REMARK    GeneRIF: Identification of rare variants in PTCH2 associated with
            non-syndromic orofacial clefts.
REFERENCE   2  (bases 1 to 4410)
  AUTHORS   Han,J., Deng,H., Xiong,Y., Xia,X., Bao,C., Chen,L., Zhao,Q.,
            Zhong,S., Peng,L. and Zhong,C.
  TITLE     Reduced PTCH2 expression is associated with glioma development
            through its regulation of the PTEN/AKT signaling pathway
  JOURNAL   Biochem Biophys Res Commun 627, 76-83 (2022)
   PUBMED   36027694
  REMARK    GeneRIF: Reduced PTCH2 expression is associated with glioma
            development through its regulation of the PTEN/AKT signaling
            pathway.
REFERENCE   3  (bases 1 to 4410)
  AUTHORS   Yang,X.H., Xu,B.H., Zhou,D.L., Long,Y.K., Liu,Q., Huang,C., Ye,Z.L.
            and He,C.Y.
  TITLE     Inherited rare and common variants in PTCH1 and PTCH2 contributing
            to the predisposition to reproductive cancers
  JOURNAL   Gene 814, 146157 (2022)
   PUBMED   34990798
  REMARK    GeneRIF: Inherited rare and common variants in PTCH1 and PTCH2
            contributing to the predisposition to reproductive cancers.
REFERENCE   4  (bases 1 to 4410)
  AUTHORS   Fan,Z., Du,J., Liu,H., Zhang,H., Dlugosz,A.A., Wang,C.Y., Fan,M.,
            Shen,Y. and Wang,S.
  TITLE     A susceptibility locus on 1p32-1p34 for congenital macrostomia in a
            Chinese family and identification of a novel PTCH2 mutation
  JOURNAL   Am J Med Genet A 149A (3), 521-524 (2009)
   PUBMED   19208383
  REMARK    GeneRIF: A susceptibility locus on 1p32-1p34 for congenital
            macrostomia in a Chinese family and identification of a novel PTCH2
            mutation are reported.
REFERENCE   5  (bases 1 to 4410)
  AUTHORS   Fan,Z., Li,J., Du,J., Zhang,H., Shen,Y., Wang,C.Y. and Wang,S.
  TITLE     A missense mutation in PTCH2 underlies dominantly inherited NBCCS
            in a Chinese family
  JOURNAL   J Med Genet 45 (5), 303-308 (2008)
   PUBMED   18285427
  REMARK    GeneRIF: PTCH2 (2157G-->A), a novel missense mutation, underlies
            NBCCS, resulting in the loss of PTCH2 inhibitory function in the
            Shh signalling pathway.
REFERENCE   6  (bases 1 to 4410)
  AUTHORS   Rahnama,F., Toftgard,R. and Zaphiropoulos,P.G.
  TITLE     Distinct roles of PTCH2 splice variants in Hedgehog signalling
  JOURNAL   Biochem J 378 (Pt 2), 325-334 (2004)
   PUBMED   14613484
  REMARK    GeneRIF: PTCH2 isoforms have distinct roles in Hedgehog signalling.
REFERENCE   7  (bases 1 to 4410)
  AUTHORS   Villavicencio,E.H., Walterhouse,D.O. and Iannaccone,P.M.
  TITLE     The sonic hedgehog-patched-gli pathway in human development and
            disease
  JOURNAL   Am J Hum Genet 67 (5), 1047-1054 (2000)
   PUBMED   11001584
  REMARK    Review article
REFERENCE   8  (bases 1 to 4410)
  AUTHORS   Zaphiropoulos,P.G., Unden,A.B., Rahnama,F., Hollingsworth,R.E. and
            Toftgard,R.
  TITLE     PTCH2, a novel human patched gene, undergoing alternative splicing
            and up-regulated in basal cell carcinomas
  JOURNAL   Cancer Res 59 (4), 787-792 (1999)
   PUBMED   10029063
REFERENCE   9  (bases 1 to 4410)
  AUTHORS   Smyth,I., Narang,M.A., Evans,T., Heimann,C., Nakamura,Y.,
            Chenevix-Trench,G., Pietsch,T., Wicking,C. and Wainwright,B.J.
  TITLE     Isolation and characterization of human patched 2 (PTCH2), a
            putative tumour suppressor gene inbasal cell carcinoma and
            medulloblastoma on chromosome 1p32
  JOURNAL   Hum Mol Genet 8 (2), 291-297 (1999)
   PUBMED   9931336
REFERENCE   10 (bases 1 to 4410)
  AUTHORS   Carpenter,D., Stone,D.M., Brush,J., Ryan,A., Armanini,M.,
            Frantz,G., Rosenthal,A. and de Sauvage,F.J.
  TITLE     Characterization of two patched receptors for the vertebrate
            hedgehog protein family
  JOURNAL   Proc Natl Acad Sci U S A 95 (23), 13630-13634 (1998)
   PUBMED   9811851
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136380.22, AF119569.1,
            AY359016.1 and AL592166.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_003738.4.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY359016.1, AF087651.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372192.4/ ENSP00000361266.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-309               AL136380.22        18423-18731         c
            310-2818            AF119569.1         1-2509
            2819-4082           AY359016.1         2502-3765
            4083-4410           AL592166.16        85966-86293         c
FEATURES             Location/Qualifiers
     source          1..4410
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..4410
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /note="patched 2"
                     /db_xref="GeneID:8643"
                     /db_xref="HGNC:HGNC:9586"
                     /db_xref="MIM:603673"
     exon            1..393
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     CDS             322..3933
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein patched homolog 2"
                     /codon_start=1
                     /product="protein patched homolog 2 isoform 1"
                     /protein_id="NP_003729.3"
                     /db_xref="CCDS:CCDS516.1"
                     /db_xref="GeneID:8643"
                     /db_xref="HGNC:HGNC:9586"
                     /db_xref="MIM:603673"
                     /translation="MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLL
                     FSLGCGIQRHCGKVLFLGLLAFGALALGLRMAIIETNLEQLWVEVGSRVSQELHYTKE
                     KLGEEAAYTSQMLIQTARQEGENILTPEALGLHLQAALTASKVQVSLYGKSWDLNKIC
                     YKSGVPLIENGMIERMIEKLFPCVILTPLDCFWEGAKLQGGSAYLPGRPDIQWTNLDP
                     EQLLEELGPFASLEGFRELLDKAQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVA
                     HELSGGCHGFSHKFMHWQEELLLGGMARDPQGELLRAEALQSTFLLMSPRQLYEHFRG
                     DYQTHDIGWSEEQASTVLQAWQRRFVQLAQEALPENASQQIHAFSSTTLDDILHAFSE
                     VSAARVVGGYLLMLAYACVTMLRWDCAQSQGSVGLAGVLLVALAVASGLGLCALLGIT
                     FNAATTQVLPFLALGIGVDDVFLLAHAFTEALPGTPLQERMGECLQRTGTSVVLTSIN
                     NMAAFLMAALVPIPALRAFSLQAAIVVGCTFVAVMLVFPAILSLDLRRRHCQRLDVLC
                     CFSSPCSAQVIQILPQELGDGTVPVGIAHLTATVQAFTHCEASSQHVVTILPPQAHLV
                     PPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKSLPCARWNLAHFARYQFAPLLLQ
                     SHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRGTKEHAFLSAQLRYFSLYEVA
                     LVTQGGFDYAHSQRALFDLHQRFSSLKAVLPPPATQAPRTWLHYYRNWLQGIQAAFDQ
                     DWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLTTRKLVDREGLIPPELF
                     YMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIPPAQPLEFAQFPFLL
                     RGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGLRRCFLLAVCILL
                     VCTFLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVVILVASVGIGV
                     EFTVHVALGFLTTQGSRNLRAAHALEHTFAPVTDGAISTLLGLLMLAGSHFDFIVRYF
                     FAALTVLTLLGLLHGLVLLPVLLSILGPPPEVIQMYKESPEILSPPAPQGGGLRWGAS
                     SSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGPATG"
     exon            394..586
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            587..776
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            777..846
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            847..938
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1134
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1256
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1404
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1536
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1692
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1693..1785
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..1911
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1912..2030
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            2031..2379
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            2380..2692
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            2693..2835
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            2836..3016
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            3017..3297
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            3298..3435
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            3436..3578
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            3579..3678
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     exon            3679..4410
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4390..4395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /note="hexamer: AATATA"
     polyA_site      4410
                     /gene="PTCH2"
                     /gene_synonym="PTC2; SLC65B2"
                     /note="major polyA site"
ORIGIN      
        1 gcagttgcca cctcgagccc tgctgtgcgt ctcgggccag caattccgcc tgcgcgcggg
       61 acccattcct cctccagccg ccgcggccca cggcccacgg agcgggtgaa tcccggcgcc
      121 gcgccccgga cccgcagctc cctgcactcc tccctcccag ccgctttaac acccacaccc
      181 cacagtctct cccacgcccg cgccttggcg gccccactga atccctacgc ggggcccagc
      241 ggtaccggga gaccgggcta gcctatggga gcgcccagat aacgcgggtt gggggcgccc
      301 gcgcccccca tccccgccag catgactcga tcgccgcccc tcagagagct gcccccgagt
      361 tacacacccc cagctcgaac cgcagcaccc cagatcctag ctgggagcct gaaggctcca
      421 ctctggcttc gtgcttactt ccagggcctg ctcttctctc tgggatgcgg gatccagaga
      481 cattgtggca aagtgctctt tctgggactg ttggcctttg gggccctggc attaggtctc
      541 cgcatggcca ttattgagac aaacttggaa cagctctggg tagaagtggg cagccgggtg
      601 agccaggagc tgcattacac caaggagaag ctgggggagg aggctgcata cacctctcag
      661 atgctgatac agaccgcacg ccaggaggga gagaacatcc tcacacccga agcacttggc
      721 ctccacctcc aggcagccct cactgccagt aaagtccaag tatcactcta tgggaagtcc
      781 tgggatttga acaaaatctg ctacaagtca ggagttcccc ttattgaaaa tggaatgatt
      841 gagcggatga ttgagaagct gtttccgtgc gtgatcctca cccccctcga ctgcttctgg
      901 gagggagcca aactccaagg gggctccgcc tacctgcccg gccgcccgga tatccagtgg
      961 accaacctgg atccagagca gctgctggag gagctgggtc cctttgcctc ccttgagggc
     1021 ttccgggagc tgctagacaa ggcacaggtg ggccaggcct acgtggggcg gccctgtctg
     1081 caccctgatg acctccactg cccacctagt gcccccaacc atcacagcag gcaggctccc
     1141 aatgtggctc acgagctgag tgggggctgc catggcttct cccacaaatt catgcactgg
     1201 caggaggaat tgctgctggg aggcatggcc agagaccccc aaggagagct gctgagggca
     1261 gaggccctgc agagcacctt cttgctgatg agtccccgcc agctgtacga gcatttccgg
     1321 ggtgactatc agacacatga cattggctgg agtgaggagc aggccagcac agtgctacaa
     1381 gcctggcagc ggcgctttgt gcagctggcc caggaggccc tgcctgagaa cgcttcccag
     1441 cagatccatg ccttctcctc caccaccctg gatgacatcc tgcatgcgtt ctctgaagtc
     1501 agtgctgccc gtgtggtggg aggctatctg ctcatgctgg cctatgcctg tgtgaccatg
     1561 ctgcggtggg actgcgccca gtcccagggt tccgtgggcc ttgccggggt actgctggtg
     1621 gccctggcgg tggcctcagg ccttgggctc tgtgccctgc tcggcatcac cttcaatgct
     1681 gccactaccc aggtgctgcc cttcttggct ctgggaatcg gcgtggatga cgtattcctg
     1741 ctggcgcatg ccttcacaga ggctctgcct ggcacccctc tccaggagcg catgggcgag
     1801 tgtctgcagc gcacgggcac cagtgtcgta ctcacatcca tcaacaacat ggccgccttc
     1861 ctcatggctg ccctcgttcc catccctgcg ctgcgagcct tctccctaca ggcggccata
     1921 gtggttggct gcacctttgt agccgtgatg cttgtcttcc cagccatcct cagcctggac
     1981 ctacggcggc gccactgcca gcgccttgat gtgctctgct gcttctccag tccctgctct
     2041 gctcaggtga ttcagatcct gccccaggag ctgggggacg ggacagtacc agtgggcatt
     2101 gcccacctca ctgccacagt tcaagccttt acccactgtg aagccagcag ccagcatgtg
     2161 gtcaccatcc tgcctcccca agcccacctg gtgcccccac cttctgaccc actgggctct
     2221 gagctcttca gccctggagg gtccacacgg gaccttctag gccaggagga ggagacaagg
     2281 cagaaggcag cctgcaagtc cctgccctgt gcccgctgga atcttgccca tttcgcccgc
     2341 tatcagtttg ccccgttgct gctccagtca catgctaagg ccatcgtgct ggtgctcttt
     2401 ggtgctcttc tgggcctgag cctctacgga gccaccttgg tgcaagacgg cctggccctg
     2461 acggatgtgg tgcctcgggg caccaaggag catgccttcc tgagcgccca gctcaggtac
     2521 ttctccctgt acgaggtggc cctggtgacc cagggtggct ttgactacgc ccactcccaa
     2581 cgcgccctct ttgatctgca ccagcgcttc agttccctca aggcggtgct gcccccaccg
     2641 gccacccagg caccccgcac ctggctgcac tattaccgca actggctaca gggaatccag
     2701 gctgcctttg accaggactg ggcttctggg cgcatcaccc gccactcgta ccgcaatggc
     2761 tctgaggatg gggccctggc ctacaagctg ctcatccaga ctggagacgc ccaggagcct
     2821 ctggatttca gccagctgac cacaaggaag ctggtggaca gagagggact gattccaccc
     2881 gagctcttct acatggggct gaccgtgtgg gtgagcagtg accccctggg tctggcagcc
     2941 tcacaggcca acttctaccc cccacctcct gaatggctgc acgacaaata cgacaccacg
     3001 ggggagaacc ttcgcatccc gccagctcag cccttggagt ttgcccagtt ccccttcctg
     3061 ctgcgtggcc tccagaagac tgcagacttt gtggaggcca tcgagggggc ccgggcagca
     3121 tgcgcagagg ccggccaggc tggggtgcac gcctacccca gcggctcccc cttcctcttc
     3181 tgggaacagt atctgggcct gcggcgctgc ttcctgctgg ccgtctgcat cctgctggtg
     3241 tgcactttcc tcgtctgtgc tctgctgctc ctcaacccct ggacggctgg cctcatagtg
     3301 ctggtcctgg cgatgatgac agtggaactc tttggtatca tgggtttcct gggcatcaag
     3361 ctgagtgcca tccccgtggt gatccttgtg gcctctgtag gcattggcgt tgagttcaca
     3421 gtccacgtgg ctctgggctt cctgaccacc cagggcagcc ggaacctgcg ggccgcccat
     3481 gcccttgagc acacatttgc ccccgtgacc gatggggcca tctccacatt gctgggtctg
     3541 ctcatgcttg ctggttccca ctttgacttc attgtaaggt acttctttgc ggcgctgaca
     3601 gtgctcacgc tcctgggcct cctccatgga ctcgtgctgc tgcctgtgct gctgtccatc
     3661 ctgggcccgc cgccagaggt gatacagatg tacaaggaaa gcccagagat cctgagtcca
     3721 ccagctccac agggaggcgg gcttaggtgg ggggcatcct cctccctgcc ccagagcttt
     3781 gccagagtga ctacctccat gaccgtggcc atccacccac cccccctgcc tggtgcctac
     3841 atccatccag cccctgatga gcccccttgg tcccctgctg ccactagctc tggcaacctc
     3901 agttccaggg gaccaggtcc agccactggg tgaaagagca gctgaagcac agagaccatg
     3961 tgtggggcgt gtggggtcac tgggaagcac tgggtctggt gttagacgca ggatggaccc
     4021 ctggagggcc ctgctgctgc tgcatcccct ctcccgaccc agctgtcatg ggcctccctg
     4081 atatccatac agaacagcca ccgatttgca catccaggcc tgtgtgagcc tgtatctgtg
     4141 tcacttgaga gtgaaagctg gcacttgggg ctgcagtgca gccctgtccc ccttcccacc
     4201 ccacaccact gcctgcccag ctgaccaagc ctgagggacc ctccagcacc cttccgtctg
     4261 gtgactcctg ggcaggctct ccatatccct gcccacctcc taccacatcc attatttata
     4321 tgaaaatgtc tatttttgta gtatacatac atgttagcta tgatgaaagt tttatttttt
     4381 aaagaatgaa atatattcta tgtgaactaa
//
