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TPO thyroid peroxidase [ Homo sapiens (human) ]

Gene ID: 7173, updated on 8-Dec-2018

Summary

Official Symbol
TPOprovided by HGNC
Official Full Name
thyroid peroxidaseprovided by HGNC
Primary source
HGNC:HGNC:12015
See related
Ensembl:ENSG00000115705 MIM:606765
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

Genomic context

See TPO in Genome Data Viewer
Location:
2p25.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (1413288..1542727)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (1417233..1547445)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene SNTG2 antisense RNA 1 Neighboring gene syntrophin gamma 2 Neighboring gene uncharacterized LOC105373359 Neighboring gene adhesive plaque matrix protein-like Neighboring gene peroxidasin

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iodide peroxidase activity IEA
Inferred from Electronic Annotation
more info
 
peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
embryonic hemopoiesis IDA
Inferred from Direct Assay
more info
PubMed 
hormone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
hydrogen peroxide catabolic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone generation IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone generation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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_024308854.1
XP_024308855.1
XP_024308856.1
XP_024308857.1
XP_024308858.1
XP_024308859.1
XP_024308860.1
XP_024308861.1

NCBI Reference Sequences (RefSeq)

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_011581.1 RefSeqGene

    Range
    4999..134265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000547.5NP_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)
    AW874082, BC063107, BC095448, J02969
    Consensus CDS
    CCDS1643.1
    UniProtKB/Swiss-Prot
    P07202
    UniProtKB/TrEMBL
    Q502Y3, Q6P534
    Related
    ENSP00000318820.7, ENST00000345913.8
    Conserved Domains (4) 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
    pfam07645
    Location:796838
    EGF_CA; Calcium-binding EGF domain
  2. NM_001206744.1NP_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)
    BC063107, BC095448, BE046044, Y00406
    Consensus CDS
    CCDS1643.1
    UniProtKB/Swiss-Prot
    P07202
    UniProtKB/TrEMBL
    Q502Y3, Q6P534
    Related
    ENSP00000329869.4, ENST00000329066.8
    Conserved Domains (4) 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
    pfam07645
    Location:796838
    EGF_CA; Calcium-binding EGF domain
  3. NM_001206745.1NP_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)
    BC063107, BE046044, J02969, X17358
    Consensus CDS
    CCDS1644.1
    UniProtKB/Swiss-Prot
    P07202
    UniProtKB/TrEMBL
    Q6P534
    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_175719.3NP_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)
    AW874082, BC063107, BC095448, J02970
    Consensus CDS
    CCDS1644.1
    UniProtKB/Swiss-Prot
    P07202
    UniProtKB/TrEMBL
    Q502Y3, Q6P534
    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/Swiss-Prot
    P07202
    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/Swiss-Prot
    P07202
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    1413288..1542727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453089.1XP_024308857.1  thyroid peroxidase isoform X4

    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)
  2. XM_024453087.1XP_024308855.1  thyroid peroxidase isoform X4

    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)
  3. XM_024453088.1XP_024308856.1  thyroid peroxidase isoform X4

    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)
  4. XM_024453085.1XP_024308853.1  thyroid peroxidase isoform X1

    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)
  5. XM_024453092.1XP_024308860.1  thyroid peroxidase isoform X7

    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)
  6. XM_024453090.1XP_024308858.1  thyroid peroxidase isoform X5

    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)
  7. XM_011510380.3XP_011508682.2  thyroid peroxidase isoform X3

    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_024453086.1XP_024308854.1  thyroid peroxidase isoform X2

    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
  9. XM_024453091.1XP_024308859.1  thyroid peroxidase isoform X6

    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
  10. XM_024453093.1XP_024308861.1  thyroid peroxidase isoform X8

    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

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187529.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    96659..223095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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