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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
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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.