Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    PAX3 paired box 3 [ Homo sapiens (human) ]

    Gene ID: 5077, updated on 8-May-2017
    Official Symbol
    PAX3provided by HGNC
    Official Full Name
    paired box 3provided by HGNC
    Primary source
    HGNC:HGNC:8617
    See related
    Ensembl:ENSG00000135903 MIM:606597; Vega:OTTHUMG00000133157
    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
    WS1; WS3; CDHS; HUP2
    Summary
    This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2q36.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (222199887..222298996, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (223064606..223163715, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene heat shock protein family A (Hsp70) member 9 pseudogene 1 Neighboring gene ribosomal protein L23a pseudogene 28 Neighboring gene uncharacterized LOC107985991 Neighboring gene uncharacterized LOC105373901 Neighboring gene coiled-coil domain containing 140 Neighboring gene uncharacterized LOC440934 Neighboring gene sphingosine-1-phosphate phosphatase 2 Neighboring gene Nanog homeobox pseudogene 2

    • 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
    Craniofacial deafness hand syndrome
    MedGen: C1852510 OMIM: 122880 GeneReviews: Not available
    Compare labs
    Klein-Waardenberg's syndrome
    MedGen: C0342680 OMIM: 148820 GeneReviews: Not available
    Compare labs
    Rhabdomyosarcoma alveolar
    MedGen: C0206655 OMIM: 268220 GeneReviews: Not available
    Compare labs
    Waardenburg syndrome type 1
    MedGen: C1847800 OMIM: 193500 GeneReviews: Waardenburg Syndrome Type I
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-11-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-11-02)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    NHGRI GWA Catalog
    Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position.
    NHGRI GWA Catalog
    Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC120381, MGC120382, MGC120383, MGC120384, MGC134778

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    HMG box domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    neural crest formation IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    sensory perception of sound TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    paired box protein Pax-3
    Names
    paired box homeotic gene 3
    paired domain gene 3
    paired domain gene HuP2
    transcriptional factor PAX3

    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_011632.1 RefSeqGene

      Range
      4986..102269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000438.5NP_000429.2  paired box protein Pax-3 isoform PAX3a

      See identical proteins and their annotated locations for NP_000429.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PAX3A) differs in the 3' UTR, includes an alternate segment in the coding region, which causes a frameshift, and lacks several segments in the 3' coding region, compared to variant PAX3. The resulting protein (isoform PAX3a) has a shorter and distinct C-terminus, compared to isoform PAX3. Isoform PAX3a lacks the paired-type homeodomain.
      Source sequence(s)
      AC010980, BC101299, DA758804, S69369
      Consensus CDS
      CCDS46523.1
      UniProtKB/Swiss-Prot
      P23760
      Related
      ENSP00000386817.3, OTTHUMP00000202745, ENST00000409828.7, OTTHUMT00000328669
      Conserved Domains (1) summary
      pfam00292
      Location:34159
      PAX; 'Paired box' domain
    2. NM_001127366.2NP_001120838.1  paired box protein Pax-3 isoform PAX3i

      See identical proteins and their annotated locations for NP_001120838.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PAX3I) differs in the 3' UTR, uses an alternate in-frame splice site in the 5' coding region, and contains an alternate splice pattern in the 3' coding region, compared to variant PAX3. The resulting protein (isoform PAX3i, also known as isoform PAX3dQ-) is longer and has a distinct C-terminus, compared to isoform PAX3.
      Source sequence(s)
      AC012591, AI382779, BC101299, DA758804
      Consensus CDS
      CCDS46522.1
      UniProtKB/Swiss-Prot
      P23760
      Related
      ENSP00000386750.3, OTTHUMP00000224703, ENST00000409551.7, OTTHUMT00000375096
      Conserved Domains (3) summary
      pfam00046
      Location:221274
      Homeobox; Homeobox domain
      pfam00292
      Location:34158
      PAX; 'Paired box' domain
      pfam12360
      Location:346390
      Pax7; Paired box protein 7
    3. NM_013942.4NP_039230.1  paired box protein Pax-3 isoform PAX3b

      See identical proteins and their annotated locations for NP_039230.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PAX3B) differs in the 3' UTR, includes an alternate segment in the coding region, which causes a frameshift, and lacks several segments in the 3' coding region, compared to variant PAX3. The resulting protein (isoform PAX3a) has a shorter and distinct C-terminus, compared to isoform PAX3. Isoform PAX3b lacks the paired-type homeodomain.
      Source sequence(s)
      BC063547, BC101299, DA758804, S69370
      Consensus CDS
      CCDS2451.1
      UniProtKB/Swiss-Prot
      P23760
      Related
      ENSP00000258387.5, OTTHUMP00000164209, ENST00000258387.5, OTTHUMT00000256859
      Conserved Domains (1) summary
      pfam00292
      Location:34159
      PAX; 'Paired box' domain
    4. NM_181457.3NP_852122.1  paired box protein Pax-3 isoform PAX3

      See identical proteins and their annotated locations for NP_852122.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PAX3) encodes isoform PAX3 (also known as isoform PAX3c).
      Source sequence(s)
      AC012591, BC101299, BC101301, DA758804
      Consensus CDS
      CCDS42826.1
      UniProtKB/Swiss-Prot
      P23760
      UniProtKB/TrEMBL
      A0A024R470
      Related
      ENSP00000343052.4, OTTHUMP00000202746, ENST00000350526.8, OTTHUMT00000328670
      Conserved Domains (3) summary
      pfam00046
      Location:222275
      Homeobox; Homeobox domain
      pfam00292
      Location:34159
      PAX; 'Paired box' domain
      pfam12360
      Location:347391
      Pax7; Paired box protein 7
    5. NM_181458.3NP_852123.1  paired box protein Pax-3 isoform PAX3d

      See identical proteins and their annotated locations for NP_852123.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PAX3D) differs in the 3' UTR, and contains an alternate splice pattern in the 3' coding region, compared to variant PAX3. The resulting protein (isoform PAX3d) is longer and has a distinct C-terminus, compared to isoform PAX3.
      Source sequence(s)
      AC012591, AI382779, AK291278, BC101299, BC101301
      Consensus CDS
      CCDS42825.1
      UniProtKB/Swiss-Prot
      P23760
      Related
      ENSP00000375922.2, OTTHUMP00000202744, ENST00000392070.6, OTTHUMT00000328668
      Conserved Domains (3) summary
      pfam00046
      Location:222275
      Homeobox; Homeobox domain
      pfam00292
      Location:34159
      PAX; 'Paired box' domain
      pfam12360
      Location:347391
      Pax7; Paired box protein 7
    6. NM_181459.3NP_852124.1  paired box protein Pax-3 isoform PAX3e

      See identical proteins and their annotated locations for NP_852124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PAX3E) differs in the 3' UTR, and contains an alternate splice pattern in the 3' coding region, compared to variant PAX3. The resulting protein (isoform PAX3e) is longer and has a distinct C-terminus, compared to isoform PAX3.
      Source sequence(s)
      AC012591, AI382779, BC101299, BC101301, DA758804
      Consensus CDS
      CCDS2448.1
      UniProtKB/Swiss-Prot
      P23760
      Related
      ENSP00000375921.2, OTTHUMP00000205137, ENST00000392069.6, OTTHUMT00000334035
      Conserved Domains (3) summary
      pfam00046
      Location:222275
      Homeobox; Homeobox domain
      pfam00292
      Location:34159
      PAX; 'Paired box' domain
      pfam12360
      Location:347391
      Pax7; Paired box protein 7
    7. NM_181460.3NP_852125.1  paired box protein Pax-3 isoform PAX3h

      See identical proteins and their annotated locations for NP_852125.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PAX3H) differs in the 3' UTR, and contains an alternate splice pattern in the 3' coding region, compared to variant PAX3. The resulting protein (isoform PAX3h) is shorter and has a distinct C-terminus, compared to variant PAX3.
      Source sequence(s)
      AC012591, AI382779, BC101299, BC101301, DA758804
      Consensus CDS
      CCDS2449.1
      UniProtKB/Swiss-Prot
      P23760
      Related
      ENSP00000338767.5, OTTHUMP00000164208, ENST00000336840.10, OTTHUMT00000256858
      Conserved Domains (3) summary
      pfam00046
      Location:222275
      Homeobox; Homeobox domain
      pfam00292
      Location:34159
      PAX; 'Paired box' domain
      pfam12360
      Location:347391
      Pax7; Paired box protein 7
    8. NM_181461.3NP_852126.1  paired box protein Pax-3 isoform PAX3g

      See identical proteins and their annotated locations for NP_852126.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PAX3G) differs in the 3' UTR, and contains an alternate splice pattern in the 3' coding region, compared to variant PAX3. The resulting protein (isoform PAX3g) is shorter and has a distinct C-terminus, compared to variant PAX3.
      Source sequence(s)
      AC012591, AI382779, BC101299, BC101301, DA758804
      Consensus CDS
      CCDS2450.1
      UniProtKB/Swiss-Prot
      P23760
      Related
      ENSP00000342092.4, OTTHUMP00000164207, ENST00000344493.8, OTTHUMT00000256857
      Conserved Domains (3) summary
      pfam00046
      Location:222275
      Homeobox; Homeobox domain
      pfam00292
      Location:34159
      PAX; 'Paired box' domain
      pfam12360
      Location:347391
      Pax7; Paired box protein 7

    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
      222199887..222298996 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      223071095..223170215 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center