Research
General Information
ZIRC
ZFIN ID: ZDB-GENE-040426-1960
Gene Name: ATPase, H+ transporting, lysosomal accessory protein 2
Gene Symbol: atp6ap2
Previous Names: pekin (1), pn (1), wu:fj36c03, wu:fq15e04, zgc:73194
Location: Chr: 22   Details
Nomenclature History
GENE EXPRESSION
All Expression Data: 9 figures from 3 publications
Directly Submitted Expression Data: 4 figures (7 images) from Thisse et al., 2004 [MGC:73194]
  4 figures (14 images) from Rauch et al., 2003 [fq15e04]
Wild-type Stages, Structures: Segmentation:20-25 somites (19.0h-22.0h) to Larval:Day 5 (120.0h-144.0h, 3.9mm, 6 teeth)
  brain, central nervous system, epiphysis, forebrain (all 12) expand
Curated Microarray Expression: GEO (1)
MUTANTS AND TARGETED KNOCKDOWNS
Mutant lines: 5 genotypes
Alleles: hi3681Tg, p250
Knockdown reagents: MO1-atp6ap2 (1), MO2-atp6ap2 (1), MO3-atp6ap2 (1)
PHENOTYPE
Data: 5 figures from 3 publications
Observed in: anatomical system, bile ductule, brain, central nervous system (all 27) expand

Phenotype of Human Orthologue OMIM Phenotype ID
?Mental retardation, X-linked, syndromic, Hedera type 300423
?Parkinsonism with spasticity, X-linked 300911
GENE ONTOLOGY
Ontology GO Term
Biological Process intrahepatic bile duct development (more)
Cellular Component integral component of membrane (more)
Molecular Function receptor activity (more)
GO Terms (all 3)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR012493 (1)
  • Pfam:PF07850 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA atp6ap2-001 (1) 1619
    atp6ap2-002 (1) 841
    atp6ap2-003 (1) 658
    GENE PRODUCT DESCRIPTION
    ANTIBODIES No data available
    CONSTRUCTS WITH SEQUENCES FROM atp6ap2 No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    atp6ap2 Contained in: [BAC] DKEY-119G10 (1)
    atp6ap2 Encodes: [EST] fj36c03 (1), fq15e04 (1)
    [cDNA] MGC:73194 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_213023 (1) 1627 bp
    Genomic GenBank:BX649485 (1) 77573 bp
    Select Tool
    Polypeptide UniProtKB:F1QIH1 (1) 386 aa
    Sequence Clusters UniGene:120094 (1)
    Sequence Information (all 18)
    OTHER atp6ap2 GENE PAGES
  • Gene:406296 (1)
  • VEGA:OTTDARG00000009490 (1)
  • Ensembl(Zv9):ENSDARG00000008735 (1)
  • ORTHOLOGY
      Evidence
    Species Symbol Chr (Position) Accession # AA CL
    Zebrafish atp6ap2 22  
    Human ATP6AP2 X (Xp11.4)
  • OMIM:300556
  • Gene:10159
  • Orthology Details
    CITATIONS (22)