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PAX8 paired box 8 [ Homo sapiens (human) ]

Gene ID: 7849, updated on 6-Jul-2014
Official Symbol
PAX8provided by HGNC
Official Full Name
paired box 8provided by HGNC
Primary source
HGNC:8622
See related
Ensembl:ENSG00000125618; HPRD:01335; MIM:167415; Vega:OTTHUMG00000128529
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
Summary
This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
See PAX8 in Epigenomics, MapViewer
Location:
2q13
Exon count :
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (113215997..113278921, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113973574..114036527, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene interleukin 1 receptor antagonist Neighboring gene pleckstrin and Sec7 domain containing 4 Neighboring gene PAX8 antisense RNA 1 Neighboring gene uncharacterized LOC101927382 Neighboring gene uncharacterized LOC101927400 Neighboring gene Ig kappa chain V-I region Walker-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Thyroid agenesis
MedGen: C1563716 OMIM: 218700 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-10-30)

ISCA Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2013-10-30)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
NHGRI GWA Catalog
  • Id Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Id Signaling Pathway, organism-specific biosystemInhibitor of DNA binding (ID) proteins are members of the helix-loop-helix (HLH) family of proteins which lack a DNA binding domain themselves but bind to other family members inhibiting their DNA bi...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • TSH signaling pathway, organism-specific biosystem (from WikiPathways)
    TSH signaling pathway, organism-specific biosystemHuman thyroid stimulating hormone (TSH) is a glycoprotein secreted by the anterior part of the pituitary gland (1). TSH plays an important physiological role in the regulation of the hypothalamic-pit...
  • Thyroid cancer, organism-specific biosystem (from KEGG)
    Thyroid cancer, organism-specific biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
  • Thyroid cancer, conserved biosystem (from KEGG)
    Thyroid cancer, conserved biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
  • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
    Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroid hormone synthesis, conserved biosystem (from KEGG)
    Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
    Transcriptional misregulation in cancer, organism-specific biosystem
    Transcriptional misregulation in cancer
  • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
    Transcriptional misregulation in cancer, conserved biosystem
    Transcriptional misregulation in cancer
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
thyroid-stimulating hormone receptor activity TAS
Traceable Author Statement
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
branching involved in ureteric bud morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to gonadotropin stimulus IDA
Inferred from Direct Assay
more info
PubMed 
central nervous system development IEP
Inferred from Expression Pattern
more info
PubMed 
inner ear morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
kidney development IEP
Inferred from Expression Pattern
more info
PubMed 
mesenchymal to epithelial transition involved in metanephros morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
mesonephric tubule development IEA
Inferred from Electronic Annotation
more info
 
mesonephros development ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric S-shaped body morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric comma-shaped body morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric distal convoluted tubule development ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric epithelium development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric nephron tubule formation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process involved in metanephric collecting duct development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process involved in metanephric nephron tubule development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of mesenchymal cell apoptotic process involved in metanephros development ISS
Inferred from Sequence or Structural Similarity
more info
 
otic vesicle development IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of metanephric DCT cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of thyroid hormone generation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
pronephric field specification ISS
Inferred from Sequence or Structural Similarity
more info
 
pronephros development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of metanephric nephron tubule epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of thyroid-stimulating hormone secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
thyroid gland development IEP
Inferred from Expression Pattern
more info
PubMed 
thyroid gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
thyroid-stimulating hormone signaling pathway TAS
Traceable Author Statement
more info
PubMed 
transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
urogenital system development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
paired box protein Pax-8
Names
paired box protein Pax-8
paired domain gene 8

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_012384.1 

    Range
    5001..67925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003466.3NP_003457.1  paired box protein Pax-8 isoform PAX8A

    See proteins identical to NP_003457.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (PAX8A) represents the longest transcript and encodes the longest isoform (PAX8A).
    Source sequence(s)
    AC016683, AU141429, BC001060, BM726535
    Consensus CDS
    CCDS46398.1
    UniProtKB/Swiss-Prot
    Q06710
    UniProtKB/TrEMBL
    R9W7C9
    Related
    ENSP00000395498, OTTHUMP00000203723, ENST00000429538, OTTHUMT00000250353
    Conserved Domains (3) summary
    cd00131
    Location:9135
    Blast Score: 639
    PAX; Paired Box domain
    pfam12403
    Location:334449
    Blast Score: 405
    Pax2_C; Paired-box protein 2 C terminal
    pfam13551
    Location:31133
    Blast Score: 86
    HTH_29; Winged helix-turn helix
  2. NM_013952.3NP_039246.1  paired box protein Pax-8 isoform PAX8C

    See proteins identical to NP_039246.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (PAX8C) uses an alternate splice site in the 3' coding region, compared to variant PAX8A, that results in a frameshift and an early stop codon. It encodes isoform PAX8C which has a shorter and distinct C-terminus compared to isoform PAX8A.
    Source sequence(s)
    AC016683, AU141429, BC001060, BM726535, S77904
    Consensus CDS
    CCDS46399.1
    UniProtKB/Swiss-Prot
    Q06710
    Related
    ENSP00000314750, OTTHUMP00000203724, ENST00000348715, OTTHUMT00000250356
    Conserved Domains (2) summary
    cd00131
    Location:9135
    Blast Score: 624
    PAX; Paired Box domain
    pfam13551
    Location:31133
    Blast Score: 86
    HTH_29; Winged helix-turn helix
  3. NM_013953.3NP_039247.1  paired box protein Pax-8 isoform PAX8D

    See proteins identical to NP_039247.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (PAX8D) lacks two alternate exons, compared to variant PAX8A, that results in a frameshift and an early stop codon. The encoded isoform (PAX8D) is shorter and has a distinct C-terminus compared to isoform PAX8A.
    Source sequence(s)
    AC016683, AU141429, BC001060, BM726535, S77905
    Consensus CDS
    CCDS42736.1
    UniProtKB/Swiss-Prot
    Q06710
    Related
    ENSP00000263335, OTTHUMP00000158659, ENST00000263335, OTTHUMT00000250354
    Conserved Domains (2) summary
    cd00131
    Location:9135
    Blast Score: 622
    PAX; Paired Box domain
    pfam13551
    Location:31133
    Blast Score: 84
    HTH_29; Winged helix-turn helix
  4. NM_013992.3NP_054698.1  paired box protein Pax-8 isoform PAX8E

    See proteins identical to NP_054698.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (PAX8E) lacks three alternate exons, compared to variant PAX8A, that results in a frameshift and an early stop codon. The encoded isoform (PAX8E) is shorter and has a distinct C-terminus compared to isoform PAX8A.
    Source sequence(s)
    AC016683, AU141429, BC001060, BM726535, S77906
    Consensus CDS
    CCDS42735.1
    UniProtKB/Swiss-Prot
    Q06710
    Related
    ENSP00000380768, OTTHUMP00000158660, ENST00000397647, OTTHUMT00000250355
    Conserved Domains (2) summary
    cd00131
    Location:9135
    Blast Score: 618
    PAX; Paired Box domain
    pfam13551
    Location:31133
    Blast Score: 85
    HTH_29; Winged helix-turn helix

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    113215997..113278921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    106427614..106522962
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    113977965..114040915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_013951.3: Suppressed sequence

    Description
    NM_013951.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

Supplemental Content

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