GeneID = 267020 is in our transporter list.
[Collapse all] [Expand all]
  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 267020
    Gene Symbol ATP5L2
    Aliases ATP5K2
    Description ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2
    Organism Homo sapiens
    Location 22q13.33-qter
    Genomic position NC_000022.10 43035808-43036606 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q7Z4Y8
    Mammalian Homolog
    (GeneID)
    rat : 679690
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Data comes from (unpublished integrated data)
    KEGG Compound ID:
    C00282
  • Genomic Variation --- SNP
  • Data is integrated from dbSNP and HapMap, with functionally annotated by ANNOVAR
    Note: heterozygosity is not actually estimated from 1KG data, but is put in the same line for more compact representation.
    dbSNP rsIDchrpositionpop.alleleallele countfrequencyHapMap pop. diff.genotypegenotype count (frequency) functional annotation
    rs5751318 22 43035793 ASW G / C 85 / 29 FET lg p = -37.24

    max diff AF = 0.380
    G/G / C/G / C/C 31 / 23 / 3 intronic: CYB5R3
    CEU 113 / 113 31 / 51 / 31
    CHB 199 / 75 69 / 61 / 7
    CHD 170 / 48 67 / 36 / 6
    GIH 102 / 100 23 / 56 / 22
    JPT 145 / 81 46 / 53 / 14
    LWK 189 / 31 80 / 29 / 1
    MEX 61 / 51 16 / 29 / 11
    MKK 228 / 80 84 / 60 / 10
    TSI 93 / 101 24 / 45 / 28
    YRI 249 / 45 104 / 41 / 2
    1KG C (minor)832 in 2178 = 0.38200 heterozygosity = 0.47215, with SE = 0.11467
    rs6519327 22 43036245 CEU G / A 123 / 7 FET lg p = -22.36

    max diff AF = 0.503
    G/G / A/G / A/A 58 / 7 / 0 exonic: ATP5L2

    synonymous SNV: ATP5L2, NM_001165877, exon1, c.C36T, p.T12T
    CHB 40 / 50 9 / 22 / 14
    JPT 39 / 49 9 / 21 / 14
    YRI 102 / 24 40 / 22 / 1
    1KG A (minor)569 in 2178 = 0.26125 heterozygosity = 0.38600, with SE = 0.20977
    rs6519328 22 43036470 1KG T (minor)572 in 2178 = 0.26263 heterozygosity = 0.38731, with SE = 0.20892 UTR5: ATP5L2
    rs7284660 22 43036779 1KG A (minor)571 in 2178 = 0.26217 heterozygosity = 0.38687, with SE = 0.20920 intronic: CYB5R3
    rs6002841 22 43037084 1KG G (minor)35 in 2178 = 0.01607 heterozygosity = 0.03162, with SE = 0.12170 intronic: CYB5R3
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Data comes from DGV
    Variation IDPositionVar. TypeGainLossTotal GL InvPubMed
    Variation_3242 chr22:42835727-43040434 U E CopyNumber 0 1 1 17122850
    Variation_4129 chr22:42767301-43083306 U E CopyNumber 25 17122850
  • Haplotype Information
  • Data links to UCSC Genome Browser
    ContentHyperlinkDemo example
    HapMap LD Structure (hg18)UCSC
    1000 Genomes Phase I Haplotype Clustering (hg19)UCSC
    Gene Haplotype Allele (hg19)UCSC
  • ENCODE TFBS (Transcription Factor Binding Sites) Information
  • Epigenetic Information
  • Gene Ontology (GO)
  • Protein Sequence & Features
  • Protein Domain Information
  • Protein-Protein Interaction
  • UniGene EST Expression Data
  • Allen Brain Atlas - Mouse Brain Expression Data
  • RNA-seq Expression Data
  • External Links
  • EntrezGeneID 267020
    Gene Symbol and
    Genome Browser
    ATP5L2
    UCSC Ensembl
    mRNA NM_001165877
    protein NP_001159349
    Ensembl ENST00000505920; ENSP00000421076; ENSG00000249222
    UniProt Accession Q7Z4Y8
    GeneCards GC22M043036
    UniGene Hs.664737
    HomoloGene 124391
    EMBL AF092923; BC093719; BC093721
    IPI IPI00385203
    PharmGKB PA134948694