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    PAX8 paired box 8 [ Homo sapiens (human) ]

    Gene ID: 7849, updated on 28-Oct-2024

    Summary

    Official Symbol
    PAX8provided by HGNC
    Official Full Name
    paired box 8provided by HGNC
    Primary source
    HGNC:HGNC:8622
    See related
    Ensembl:ENSG00000125618 MIM:167415; AllianceGenome:HGNC:8622
    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
    PAX-8
    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]
    Expression
    Biased expression in thyroid (RPKM 261.2) and kidney (RPKM 40.3) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PAX8 in Genome Data Viewer
    Location:
    2q14.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (113215997..113278921, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (113642573..113705473, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113973574..114036498, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16412 Neighboring gene interleukin 1 receptor antagonist Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11879 Neighboring gene Sharpr-MPRA regulatory region 7144 Neighboring gene uncharacterized LOC124907872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113929890-113930390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113930391-113930891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16417 Neighboring gene pleckstrin and Sec7 domain containing 4 Neighboring gene Sharpr-MPRA regulatory region 2961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11881 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113998497-113999696 Neighboring gene PAX8 antisense RNA 1 Neighboring gene PAX8 promoter region Neighboring gene uncharacterized LOC105373567 Neighboring gene long intergenic non-protein coding RNA 2966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:114099097-114099596 Neighboring gene uncharacterized LOC124906070

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Hypothyroidism, congenital, nongoitrous, 2
    MedGen: C1869118 OMIM: 218700 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2021-11-09)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-11-09)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ39476, FLJ43001

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in branching involved in ureteric bud morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to gonadotropin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in central nervous system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in inner ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in mesenchymal to epithelial transition involved in metanephros morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in mesonephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephric S-shaped body morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in metanephric comma-shaped body morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in metanephric distal convoluted tubule development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephric epithelium development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in metanephric nephron tubule formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process involved in metanephric collecting duct development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process involved in metanephric nephron tubule development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of mesenchymal cell apoptotic process involved in metanephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in otic vesicle development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of metanephric DCT cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of thyroid hormone generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pronephric field specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pronephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of metanephric nephron tubule epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of thyroid-stimulating hormone secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sulfur compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid gland development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in thyroid gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thyroid-stimulating hormone signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in urogenital system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    paired box protein Pax-8
    Names
    paired domain gene 8

    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_012384.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_003466.4 → NP_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, Q09155, Q16337, Q16338, Q16339, Q4ZG35, Q96J49
      UniProtKB/TrEMBL
      A0A024R4X3, A0A7P0T907, R9W7C9
      Related
      ENSP00000395498.3, ENST00000429538.8
      Conserved Domains (2) summary
      smart00351
      Location:9 → 133
      PAX; Paired Box domain
      pfam12403
      Location:337 → 448
      Pax2_C; Paired-box protein 2 C terminal
    2. NM_013952.4 → NP_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
      Related
      ENSP00000314750.5, ENST00000348715.9
      Conserved Domains (1) summary
      smart00351
      Location:9 → 133
      PAX; Paired Box domain
    3. NM_013953.4 → NP_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
      Related
      ENSP00000263335.7, ENST00000263335.11
      Conserved Domains (1) summary
      smart00351
      Location:9 → 133
      PAX; Paired Box domain
    4. NM_013992.4 → NP_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, ENST00000397647.7
      Conserved Domains (1) summary
      smart00351
      Location:9 → 133
      PAX; Paired Box domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      113642573..113705473 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.