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    TGFBR2 transforming growth factor beta receptor 2 [ Homo sapiens (human) ]

    Gene ID: 7048, updated on 3-Nov-2024

    Summary

    Official Symbol
    TGFBR2provided by HGNC
    Official Full Name
    transforming growth factor beta receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:11773
    See related
    Ensembl:ENSG00000163513 MIM:190182; AllianceGenome:HGNC:11773
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAT3; FAA3; LDS2; MFS2; RIIC; LDS1B; LDS2B; TAAD2; TBRII; TBR-ii; TGFR-2; tbetaR-II; TGFbeta-RII
    Summary
    The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in fat (RPKM 81.0), lung (RPKM 74.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TGFBR2 in Genome Data Viewer
    Location:
    3p24.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (30606356..30694142)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (30608862..30696629)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (30647848..30735634)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927995 Neighboring gene uncharacterized LOC105377013 Neighboring gene Sharpr-MPRA regulatory region 9798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19624 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:30590862-30591747 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:30592706-30593238 Neighboring gene NANOG hESC enhancer GRCh37_chr3:30593324-30593858 Neighboring gene long intergenic non-protein coding RNA 1985 Neighboring gene HNF1 motif-containing MPRA enhancer 129 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14158 Neighboring gene KLHL25 pseudogene 1 Neighboring gene glutamate decarboxylase like 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69439 Neighboring gene formin binding protein 1 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr3:30949959-30950520 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:31037859-31038360 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:31068205-31068399 Neighboring gene MPRA-validated peak4584 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr3:31137307-31137898 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31167054-31167555 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31183687-31184252 Neighboring gene microRNA 466

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TGFBR2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-06-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2024-06-26)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    EBI GWAS Catalog
    Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
    EBI GWAS Catalog
    Genome-wide association analysis identifies susceptibility loci for migraine without aura.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag The amplified luminescent proximity homogeneous assay (AlphaScreen) identifies the interaction of HIV-1 Gag with TGFBR2 PubMed
    Vpu vpu Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse HIV-1 Vpu-mediated profibrogenic activation of LX2 cells, suggesting that TGF-beta mediates these effects PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables activin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables activin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glycosaminoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables kinase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables transforming growth factor beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transforming growth factor beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transforming growth factor beta receptor activity IC
    Inferred by Curator
    more info
    PubMed 
    enables transforming growth factor beta receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transforming growth factor beta receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transforming growth factor beta receptor activity, type II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables type I transforming growth factor beta receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type III transforming growth factor beta receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Langerhans cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aorta morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in aortic valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrioventricular valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood vessel development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in branching involved in blood vessel morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bronchus morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac left ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in cell proliferation involved in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardial cushion fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth plate cartilage chondrocyte growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inferior endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens fiber cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung lobe morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membranous septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in miRNA transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in myeloid dendritic cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pattern specification process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of B cell tolerance induction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of CD4-positive, alpha-beta T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NK T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell tolerance induction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of epithelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of mesenchymal cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of tolerance induction to self antigen ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cholesterol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in secondary palate development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in superior endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in trachea formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in tricuspid valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in caveola IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transforming growth factor beta ligand-receptor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of transforming growth factor beta ligand-receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    TGF-beta receptor type-2
    Names
    TGF-beta receptor type IIB
    TGF-beta type II receptor
    transforming growth factor beta receptor II
    transforming growth factor beta receptor type IIC
    transforming growth factor, beta receptor II (70/80kDa)
    transforming growth factor, beta receptor II alpha
    transforming growth factor, beta receptor II beta
    transforming growth factor, beta receptor II delta
    transforming growth factor, beta receptor II epsilon
    transforming growth factor, beta receptor II gamma
    NP_001020018.1
    NP_001394055.1
    NP_001394056.1
    NP_001394057.1
    NP_001394058.1
    NP_001394059.1
    NP_001394061.1
    NP_001394062.1
    NP_001394063.1
    NP_001394064.1
    NP_001394065.1
    NP_001394066.1
    NP_001394067.1
    NP_001394068.1
    NP_003233.4
    XP_047304743.1
    XP_054203641.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007490.1 RefSeqGene

      Range
      5001..92641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_779

    mRNA and Protein(s)

    1. NM_001024847.3NP_001020018.1  TGF-beta receptor type-2 isoform A precursor

      See identical proteins and their annotated locations for NP_001020018.1

      Status: REVIEWED

      Source sequence(s)
      AC096921
      Consensus CDS
      CCDS33727.1
      UniProtKB/TrEMBL
      A0AAQ5BI03, D2JYI1
      Related
      ENSP00000351905.4, ENST00000359013.4
      Conserved Domains (2) summary
      cd14055
      Location:273567
      STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor
      pfam08917
      Location:74177
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
    2. NM_001407126.1NP_001394055.1  TGF-beta receptor type-2 isoform C precursor

      Status: REVIEWED

      Source sequence(s)
      AC096921
    3. NM_001407127.1NP_001394056.1  TGF-beta receptor type-2 isoform D precursor

      Status: REVIEWED

      Source sequence(s)
      AC096921
    4. NM_001407128.1NP_001394057.1  TGF-beta receptor type-2 isoform E

      Status: REVIEWED

      Source sequence(s)
      AC096921
    5. NM_001407129.1NP_001394058.1  TGF-beta receptor type-2 isoform F

      Status: REVIEWED

      Source sequence(s)
      AC096921
    6. NM_001407130.1NP_001394059.1  TGF-beta receptor type-2 isoform G precursor

      Status: REVIEWED

      Source sequence(s)
      AC096921
    7. NM_001407132.1NP_001394061.1  TGF-beta receptor type-2 isoform H

      Status: REVIEWED

      Source sequence(s)
      AC096921
      UniProtKB/TrEMBL
      A0AAQ5BI06
      Related
      ENSP00000519657.1, ENST00000714390.1
    8. NM_001407133.1NP_001394062.1  TGF-beta receptor type-2 isoform H

      Status: REVIEWED

      Source sequence(s)
      AC096921
      UniProtKB/TrEMBL
      A0AAQ5BI06
    9. NM_001407134.1NP_001394063.1  TGF-beta receptor type-2 isoform H

      Status: REVIEWED

      Source sequence(s)
      AC096921
      UniProtKB/TrEMBL
      A0AAQ5BI06
    10. NM_001407135.1NP_001394064.1  TGF-beta receptor type-2 isoform H

      Status: REVIEWED

      Source sequence(s)
      AC096921
      UniProtKB/TrEMBL
      A0AAQ5BI06
    11. NM_001407136.1NP_001394065.1  TGF-beta receptor type-2 isoform H

      Status: REVIEWED

      Source sequence(s)
      AC096921
      UniProtKB/TrEMBL
      A0AAQ5BI06
    12. NM_001407137.1NP_001394066.1  TGF-beta receptor type-2 isoform I precursor

      Status: REVIEWED

      Source sequence(s)
      AC096921
    13. NM_001407138.1NP_001394067.1  TGF-beta receptor type-2 isoform J

      Status: REVIEWED

      Source sequence(s)
      AC096921
    14. NM_001407139.1NP_001394068.1  TGF-beta receptor type-2 isoform K precursor

      Status: REVIEWED

      Source sequence(s)
      AC096921
    15. NM_003242.6NP_003233.4  TGF-beta receptor type-2 isoform B precursor

      See identical proteins and their annotated locations for NP_003233.4

      Status: REVIEWED

      Source sequence(s)
      AC096921, BC040499, M85079
      Consensus CDS
      CCDS2648.1
      UniProtKB/Swiss-Prot
      B4DTV5, P37173, Q15580, Q6DKT6, Q99474
      UniProtKB/TrEMBL
      A0AAQ5BI03, A3QNQ0
      Related
      ENSP00000295754.5, ENST00000295754.10
      Conserved Domains (2) summary
      cd14055
      Location:248542
      STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor
      pfam08917
      Location:49152
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      30606356..30694142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448787.1XP_047304743.1  TGF-beta receptor type-2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      30608862..30696629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347666.1XP_054203641.1  TGF-beta receptor type-2 isoform X1