ZFIN ID: ZDB-GENE-990415-8
Gene Name: paired box 2a
Gene Symbol: pax2a    Nomenclature History

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Previous Names: Pax-2, pax-b, pax2.1, Pax2.1, pax2a1, paxb, cb378 (1), no isthmus, noi, pax[zf-b]

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 13 Mapping Details/Browsers
Description: Exhibits sequence-specific DNA binding activity. Involved in several processes, including animal organ development; cilium assembly; and peripheral nervous system development. Localizes to the nucleus. Used to study coloboma. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 7 and renal coloboma syndrome. Is expressed in several structures, including immature eye; mesoderm; nervous system; neural keel; and pronephros. Orthologous to human PAX2 (paired box 2).
Genome Resources: Alliance (1),  Gene:30425 (1),  Ensembl(GRCz11):ENSDARG00000028148 (2)
GENE EXPRESSION
All Expression Data: 747 figures from 518 publications
Directly Submitted Expression Data: 6 figures (47 images) from Thisse et al., 2001 [cb378]
Wild-type Stages, Structures: Cleavage:8-cell (1.25h-1.5h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
b593 Unknown Unknown Unknown ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • cu17 Small Deletion Unknown Unknown CRISPR
    pax2a_unspecified Unspecified Unknown Unknown
    rk9 Unknown Unknown Unknown
    sa11077 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa22324 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa24936 Point Mutation Unknown Premature Stop ENU
    tb21 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • th44 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • tm243a Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • tu29a Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • ty22b Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • ty31a Point Mutation Unknown Missense ENU
    umn100 Small Deletion Exon 2 Unknown TALEN
    umn101 Insertion Exon 2 Unknown TALEN
    uy221Tg Transgenic Insertion 5' UTR Unknown DNA_AND_CRISPR
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-pax2a 1
    CRISPR2-pax2a 1
    CRISPR3-pax2a 1
    CRISPR4-pax2a 1
    CRISPR5-pax2a 2
    CRISPR6-pax2a
    1
    MO1-pax2a N/A 6
    MO2-pax2a N/A 1
    MO3-pax2a N/A 3
    MO4-pax2a N/A 5
    MO5-pax2a N/A 1
    MO6-pax2a N/A 1
    TALEN1-pax2a
    1
    PHENOTYPE
    Data: 53 figures from 32 publications
    Observed in:
    DISEASE ASSOCIATED WITH pax2a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    focal segmental glomerulosclerosis 7 Alliance Glomerulosclerosis, focal segmental, 7 616002
    renal coloboma syndrome Alliance Papillorenal syndrome 120330
    DISEASE ASSOCIATED WITH pax2a VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    coloboma pax2atu29a/tu29a standard conditions Moosajee et al., 2008
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process anterior/posterior pattern specification (more)
    Cellular Component nucleus (more)
    Molecular Function DNA binding (more)
    GO Terms (all 28)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR001523 Paired domain
    Domain IPR022130 Paired-box protein 2 C-terminal
    Homologous_superfamily IPR009057 Homeobox-like domain superfamily
    Homologous_superfamily IPR036388 Winged helix-like DNA-binding domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA pax2a-202 (1)    Ensembl 3050
    pax2a-203 (1)    Ensembl 1148
    pax2a-205 (1)    Ensembl 1126
    pax2a-206 (1)    Ensembl 1221
    pax2a-207 (1)    Ensembl 879
    pax2a-208 (1)    Ensembl 1202
    pax2a-209 (1)    Ensembl 1190
    pax2a-210 (1)    Ensembl 1171
    pax2a-211 (1)    Ensembl 1145
    ncRNA pax2a-006 (1) 323
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-pax2 polyclonal Rabbit IHC Covance
    25
    Ab1-pax2a polyclonal Rabbit IHC, WB 5
    CONSTRUCTS WITH SEQUENCES FROM pax2a
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(hsp70l:pax2a) hsp70l pax2a Danio rerio 1 5
    Tg(pax2a:Cre-ERT2) pax2a CreERT2 Danio rerio 3 6
    Tg(pax2a:GFP) pax2a GFP Danio rerio 1 28
    Tg(pax2a:Kaede) pax2a Kaede Danio rerio 1 4
    Tg(pax2a:lacZ) pax2a Danio rerio 1 3
    Tg(pax2a:tRFP) pax2a RFP Danio rerio 1 1
    Tg(pax2a:Venus) pax2a Venus Danio rerio 1 1
    MARKER RELATIONSHIPS
    pax2a Contained in: [BAC] CH73-104D2 (1), DKEY-254E7 (1) (order this)
    pax2a Encodes: [EST] cb378 (1)
    [cDNA] MGC:76865 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_131184 (1) 2959 nt
    Genomic GenBank:CT025909 (1) 204435 nt Blast at MegaBLAST
    Polypeptide UniProtKB:A0A0R4IAI2 (1) 417 aa
    Sequence Information (all 110)
    ORTHOLOGY for pax2a ( Chr: 13 )
    CITATIONS (910)