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    TPO thyroid peroxidase [ Homo sapiens (human) ]

    Gene ID: 7173, updated on 7-Apr-2024

    Summary

    Official Symbol
    TPOprovided by HGNC
    Official Full Name
    thyroid peroxidaseprovided by HGNC
    Primary source
    HGNC:HGNC:12015
    See related
    Ensembl:ENSG00000115705 MIM:606765; AllianceGenome:HGNC:12015
    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
    MSA; TPX; TDH2A
    Summary
    This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]
    Annotation information
    Note: TPO (Gene ID: 7173) and THPO (Gene ID: 7066) share the TPO symbol/alias in common. TPO is a widely used alternative name for thrombopoietin (THPO), which can be confused with the official symbol for TPO, thyroid peroxidase. [27 Jun 2018]
    Expression
    Restricted expression toward thyroid (RPKM 463.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2p25.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (1374047..1543673)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (1414928..1549090)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (1417235..1547445)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene syntrophin gamma 2 Neighboring gene uncharacterized LOC124905965 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:1260844-1260999 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:1265169-1266368 Neighboring gene Sharpr-MPRA regulatory region 1386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:1309663-1310386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:1310387-1311109 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:1312058-1312678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:1312679-1313298 Neighboring gene uncharacterized LOC105373359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:1370519-1371072 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:1391744-1392312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:1407339-1407839 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:1421072-1422271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:1451513-1452123 Neighboring gene uncharacterized LOC124905966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:1492359-1492916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:1492917-1493474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:1499759-1500394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:1519727-1520228 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:1544276-1545475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11103 Neighboring gene uncharacterized LOC102723730 Neighboring gene NANOG hESC enhancer GRCh37_chr2:1575946-1576447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:1586454-1586968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:1586969-1587483 Neighboring gene uncharacterized LOC124907722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:1594967-1595486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:1595487-1596006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:1596007-1596524

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Associated conditions

    Description Tests
    Deficiency of iodide peroxidase
    MedGen: C1291299 OMIM: 274500 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
    EBI GWAS Catalog
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    EBI GWAS Catalog
    Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
    EBI GWAS Catalog

    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 calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables iodide peroxidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables peroxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peroxidase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic hemopoiesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hydrogen peroxide catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid hormone generation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid hormone generation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    thyroid peroxidase
    Names
    thyroid microsomal antigen
    thyroperoxidase
    NP_000538.3
    NP_001193673.1
    NP_001193674.1
    NP_783650.1
    NP_783652.1
    NP_783653.1
    XP_011508682.2
    XP_024308853.1
    XP_024308855.1
    XP_024308856.1
    XP_024308857.1
    XP_024308858.1
    XP_024308859.1
    XP_024308860.1
    XP_024308861.1
    XP_047301608.1
    XP_047301609.1
    XP_047301610.1
    XP_047301611.1
    XP_047301612.1
    XP_047301613.1
    XP_054199614.1
    XP_054199615.1
    XP_054199616.1
    XP_054199617.1
    XP_054199618.1
    XP_054199619.1
    XP_054199620.1
    XP_054199621.1
    XP_054199622.1
    XP_054199623.1
    XP_054199624.1
    XP_054199625.1

    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_011581.2 RefSeqGene

      Range
      44418..174628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000547.6NP_000538.3  thyroid peroxidase isoform a precursor

      See identical proteins and their annotated locations for NP_000538.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as TPO1).
      Source sequence(s)
      AC141930, AW874082, BC063107, BC095448, J02969
      Consensus CDS
      CCDS1643.1
      UniProtKB/Swiss-Prot
      P07202, P09934, P09935, Q8IUL0, Q8NF94, Q8NF95, Q8NF96, Q8NF97, Q8TCI9
      UniProtKB/TrEMBL
      Q502Y3
      Related
      ENSP00000318820.7, ENST00000345913.8
      Conserved Domains (3) summary
      cd00033
      Location:742795
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:167734
      thyroid_peroxidase; Thyroid peroxidase (TPO)
      pfam07645
      Location:796838
      EGF_CA; Calcium-binding EGF domain
    2. NM_001206744.2NP_001193673.1  thyroid peroxidase isoform a precursor

      See identical proteins and their annotated locations for NP_001193673.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks a segment in the 5' UTR and encodes the same isoform (a, also known as TPO1), compared to variant 1.
      Source sequence(s)
      AC141930, BC095448, Y00406
      Consensus CDS
      CCDS1643.1
      UniProtKB/Swiss-Prot
      P07202, P09934, P09935, Q8IUL0, Q8NF94, Q8NF95, Q8NF96, Q8NF97, Q8TCI9
      UniProtKB/TrEMBL
      Q502Y3
      Related
      ENSP00000329869.4, ENST00000329066.9
      Conserved Domains (3) summary
      cd00033
      Location:742795
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:167734
      thyroid_peroxidase; Thyroid peroxidase (TPO)
      pfam07645
      Location:796838
      EGF_CA; Calcium-binding EGF domain
    3. NM_001206745.2NP_001193674.1  thyroid peroxidase isoform b precursor

      See identical proteins and their annotated locations for NP_001193674.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks a segment in the 5' UTR and an in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b, also known as TPO2) that is shorter than isoform a.
      Source sequence(s)
      AC141930, BC063107, BE046044, J02969, X17358
      Consensus CDS
      CCDS1644.1
      UniProtKB/TrEMBL
      Q502Y3
      Conserved Domains (4) summary
      cd00033
      Location:685738
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:167677
      thyroid_peroxidase; Thyroid peroxidase (TPO)
      pfam03098
      Location:151642
      An_peroxidase; Animal haem peroxidase
      pfam07645
      Location:739781
      EGF_CA; Calcium-binding EGF domain
    4. NM_175719.4NP_783650.1  thyroid peroxidase isoform b precursor

      See identical proteins and their annotated locations for NP_783650.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b, also known as TPO2) that is shorter than isoform a.
      Source sequence(s)
      AC141930, AW874082, BC063107, BC095448, J02970
      Consensus CDS
      CCDS1644.1
      UniProtKB/TrEMBL
      Q502Y3
      Related
      ENSP00000371636.3, ENST00000382201.7
      Conserved Domains (4) summary
      cd00033
      Location:685738
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:167677
      thyroid_peroxidase; Thyroid peroxidase (TPO)
      pfam03098
      Location:151642
      An_peroxidase; Animal haem peroxidase
      pfam07645
      Location:739781
      EGF_CA; Calcium-binding EGF domain
    5. NM_175721.3NP_783652.1  thyroid peroxidase isoform d precursor

      See identical proteins and their annotated locations for NP_783652.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (d, also known as TPO4) compared to isoform a. This variant lacks the 5'-most non-coding exon because of alternate splicing, the extension at the 5' end is uncertain.
      Source sequence(s)
      AW874082, AY136822, CB986756, DA958481, M55702, X17358, Y00406
      UniProtKB/TrEMBL
      Q502Y3
      Related
      ENSP00000263886.6, ENST00000346956.7
      Conserved Domains (3) summary
      cd00033
      Location:742795
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:167734
      thyroid_peroxidase; Thyroid peroxidase (TPO)
      pfam03098
      Location:151699
      An_peroxidase; Animal haem peroxidase
    6. NM_175722.3NP_783653.1  thyroid peroxidase isoform e precursor

      See identical proteins and their annotated locations for NP_783653.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (e, also known as TPO5) that is shorter than isoform a. This variant lacks the 5'-most non-coding exon because of alternate splicing, the extension at the 5' end is uncertain.
      Source sequence(s)
      AF439430, AF533528, AW874082, BC095448, CD608890, DA958481
      Consensus CDS
      CCDS1646.1
      UniProtKB/TrEMBL
      Q502Y3
      Related
      ENSP00000371633.1, ENST00000382198.5
      Conserved Domains (4) summary
      cd00033
      Location:569622
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cl14561
      Location:1561
      An_peroxidase_like; Animal heme peroxidases and related proteins
      pfam03098
      Location:151526
      An_peroxidase; Animal haem peroxidase
      pfam07645
      Location:623665
      EGF_CA; Calcium-binding EGF domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      1374047..1543673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445652.1XP_047301608.1  thyroid peroxidase isoform X3

    2. XM_047445655.1XP_047301611.1  thyroid peroxidase isoform X3

    3. XM_047445654.1XP_047301610.1  thyroid peroxidase isoform X3

    4. XM_047445656.1XP_047301612.1  thyroid peroxidase isoform X3

    5. XM_047445653.1XP_047301609.1  thyroid peroxidase isoform X3

    6. XM_024453089.2XP_024308857.1  thyroid peroxidase isoform X3

      UniProtKB/TrEMBL
      H0Y6H4
      Conserved Domains (2) summary
      cd00033
      Location:742795
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:167734
      thyroid_peroxidase; Thyroid peroxidase (TPO)
    7. XM_011510380.4XP_011508682.2  thyroid peroxidase isoform X2

      UniProtKB/TrEMBL
      Q53QT2
      Conserved Domains (3) summary
      cd00033
      Location:754807
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:179746
      thyroid_peroxidase; Thyroid peroxidase (TPO)
      pfam07645
      Location:808850
      EGF_CA; Calcium-binding EGF domain
    8. XM_024453090.2XP_024308858.1  thyroid peroxidase isoform X4

      UniProtKB/TrEMBL
      Q502Y3
      Conserved Domains (2) summary
      cd00033
      Location:754807
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:179746
      thyroid_peroxidase; Thyroid peroxidase (TPO)
    9. XM_047445657.1XP_047301613.1  thyroid peroxidase isoform X5

    10. XM_024453091.2XP_024308859.1  thyroid peroxidase isoform X6

      UniProtKB/TrEMBL
      Q502Y3
      Conserved Domains (3) summary
      cd00033
      Location:697750
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:179689
      thyroid_peroxidase; Thyroid peroxidase (TPO)
      pfam07645
      Location:751793
      EGF_CA; Calcium-binding EGF domain
    11. XM_024453092.2XP_024308860.1  thyroid peroxidase isoform X7

      UniProtKB/TrEMBL
      Q502Y3
      Conserved Domains (2) summary
      cd00033
      Location:697750
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:179689
      thyroid_peroxidase; Thyroid peroxidase (TPO)
    12. XM_024453093.2XP_024308861.1  thyroid peroxidase isoform X8

      UniProtKB/TrEMBL
      Q502Y3
      Conserved Domains (3) summary
      cd00033
      Location:581634
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam07645
      Location:635677
      EGF_CA; Calcium-binding EGF domain
      cl14561
      Location:13573
      An_peroxidase_like; Animal heme peroxidases and related proteins
    13. XM_024453085.2XP_024308853.1  thyroid peroxidase isoform X1

      UniProtKB/TrEMBL
      H0Y6H4
      Conserved Domains (2) summary
      cd00033
      Location:754807
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:179746
      thyroid_peroxidase; Thyroid peroxidase (TPO)
    14. XM_024453088.2XP_024308856.1  thyroid peroxidase isoform X3

      UniProtKB/TrEMBL
      H0Y6H4
      Conserved Domains (2) summary
      cd00033
      Location:742795
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:167734
      thyroid_peroxidase; Thyroid peroxidase (TPO)
    15. XM_024453087.2XP_024308855.1  thyroid peroxidase isoform X3

      UniProtKB/TrEMBL
      H0Y6H4
      Related
      ENSP00000405788.1, ENST00000422464.5
      Conserved Domains (2) summary
      cd00033
      Location:742795
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd09825
      Location:167734
      thyroid_peroxidase; Thyroid peroxidase (TPO)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187529.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      96661..223095
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      1414928..1549090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343642.1XP_054199617.1  thyroid peroxidase isoform X10

    2. XM_054343640.1XP_054199615.1  thyroid peroxidase isoform X10

    3. XM_054343641.1XP_054199616.1  thyroid peroxidase isoform X10

    4. XM_054343646.1XP_054199621.1  thyroid peroxidase isoform X13

    5. XM_054343645.1XP_054199620.1  thyroid peroxidase isoform X12

    6. XM_054343650.1XP_054199625.1  thyroid peroxidase isoform X15

    7. XM_054343643.1XP_054199618.1  thyroid peroxidase isoform X1

    8. XM_054343639.1XP_054199614.1  thyroid peroxidase isoform X9

    9. XM_054343647.1XP_054199622.1  thyroid peroxidase isoform X14

    10. XM_054343648.1XP_054199623.1  thyroid peroxidase isoform X4

    11. XM_054343644.1XP_054199619.1  thyroid peroxidase isoform X11

    12. XM_054343649.1XP_054199624.1  thyroid peroxidase isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175720.1: Suppressed sequence

      Description
      NM_175720.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.