Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    PAX8 paired box 8 [ Homo sapiens (human) ]

    Gene ID: 7849, updated on 23-Jul-2017
    Official Symbol
    PAX8provided by HGNC
    Official Full Name
    paired box 8provided by HGNC
    Primary source
    HGNC:HGNC:8622
    See related
    Ensembl:ENSG00000125618 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]
    Orthologs
    Location:
    2q14.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (113215997..113278950, 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 pleckstrin and Sec7 domain containing 4 Neighboring gene uncharacterized LOC107985935 Neighboring gene PAX8 antisense RNA 1 Neighboring gene uncharacterized LOC105373567 Neighboring gene uncharacterized LOC101927400 Neighboring gene uncharacterized LOC107985936

    • 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 Jun 15 11:32:44 2016

    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)

    ClinGen Genome Curation Page
    Haploinsufficency

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

    ClinGen 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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ39476, FLJ43001

    Gene Ontology Provided by GOA

    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 
    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 
    sulfur compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    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
    nucleoplasm 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
    PubMed 
    Preferred Names
    paired box protein Pax-8
    Names
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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
      ENSP00000395498.3, OTTHUMP00000203723, ENST00000429538.7, OTTHUMT00000250353
      Conserved Domains (2) summary
      smart00351
      Location:9133
      PAX; Paired Box domain
      pfam12403
      Location:337448
      Pax2_C; Paired-box protein 2 C terminal
    2. NM_013952.3NP_039246.1  paired box protein Pax-8 isoform PAX8C

      See identical proteins and their annotated locations for 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
      UniProtKB/TrEMBL
      A0A024R524
      Related
      ENSP00000314750.5, OTTHUMP00000203724, ENST00000348715.9, OTTHUMT00000250356
      Conserved Domains (1) summary
      smart00351
      Location:9133
      PAX; Paired Box domain
    3. NM_013953.3NP_039247.1  paired box protein Pax-8 isoform PAX8D

      See identical proteins and their annotated locations for 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
      UniProtKB/TrEMBL
      A0A024R4X8
      Related
      ENSP00000263335.7, OTTHUMP00000158659, ENST00000263335.11, OTTHUMT00000250354
      Conserved Domains (1) summary
      smart00351
      Location:9133
      PAX; Paired Box domain
    4. NM_013992.3NP_054698.1  paired box protein Pax-8 isoform PAX8E

      See identical proteins and their annotated locations for 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
      ENSP00000380768.3, OTTHUMP00000158660, ENST00000397647.7, OTTHUMT00000250355
      Conserved Domains (1) summary
      smart00351
      Location:9133
      PAX; Paired Box domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      113215997..113278950 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511793.1XP_011510095.1  paired box protein Pax-8 isoform X6

      Conserved Domains (2) summary
      smart00351
      Location:65190
      PAX; Paired Box domain
      pfam12403
      Location:338442
      Pax2_C; Paired-box protein 2 C terminal
    2. XM_011511792.1XP_011510094.1  paired box protein Pax-8 isoform X5

      Conserved Domains (1) summary
      smart00351
      Location:65190
      PAX; Paired Box domain
    3. XM_011511790.1XP_011510092.1  paired box protein Pax-8 isoform X1

      Conserved Domains (2) summary
      smart00351
      Location:65190
      PAX; Paired Box domain
      pfam12403
      Location:394505
      Pax2_C; Paired-box protein 2 C terminal
    4. XM_011511791.1XP_011510093.1  paired box protein Pax-8 isoform X2

      Conserved Domains (2) summary
      smart00351
      Location:65190
      PAX; Paired Box domain
      pfam12403
      Location:394459
      Pax2_C; Paired-box protein 2 C terminal
    5. XM_011511794.1XP_011510096.1  paired box protein Pax-8 isoform X7

      See identical proteins and their annotated locations for XP_011510096.1

      UniProtKB/TrEMBL
      A0A024R531
      Conserved Domains (2) summary
      smart00351
      Location:9133
      PAX; Paired Box domain
      pfam12403
      Location:281385
      Pax2_C; Paired-box protein 2 C terminal
    6. XM_017004878.1XP_016860367.1  paired box protein Pax-8 isoform X3

    7. XM_017004879.1XP_016860368.1  paired box protein Pax-8 isoform X4

    RNA

    1. XR_923021.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      113977965..114040915 complement
      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.
    Support Center