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    ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 245, updated on 22-Oct-2024

    Summary

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    Official Symbol
    ALOX12P2provided by HGNC
    Official Full Name
    arachidonate 12-lipoxygenase pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:432
    See related
    Ensembl:ENSG00000291084 AllianceGenome:HGNC:432
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALOX12E
    Expression
    Broad expression in testis (RPKM 1.2), thyroid (RPKM 0.7) and 14 other tissues See more
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    Genomic context

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    See ALOX12P2 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (6853576..6900349)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (6754289..6801050)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6756895..6803668)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene F-box protein 39 Neighboring gene GATA motif-containing MPRA enhancer 34 Neighboring gene tektin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8079 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:6757097-6758296 Neighboring gene uncharacterized LOC124903907 Neighboring gene uncharacterized LOC124903908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6796999-6797500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6797501-6798000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6817614-6818183 Neighboring gene uncharacterized LOC124903906 Neighboring gene Spi-C transcription factor pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13. Sun D, et al. Cytogenet Cell Genet, 1998. PMID 9691181
    2. Characterization of human 12-lipoxygenase genes. Funk CD, et al. Proc Natl Acad Sci U S A, 1992 May 1. PMID 1570320, Free PMC Article
    3. Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. Winham SJ, et al. Mol Psychiatry, 2014 Sep. PMID 24322204
    4. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • 12-lipoxygenase-related protein
    • hair and skin epidermal-type 12-lipoxygenase-related pseudogene

    Clone Names

    • MGC43625

    NCBI Reference Sequences (RefSeq)

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    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.

    RNA

    1. NR_002710.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AC027763, AL832768, BC041851
      Related
      ENST00000772349.1

    2. NR_120453.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons and includes two alternate exons, compared to variant 1.
      Source sequence(s)
      AF020774, AL832768, BC041851, BU689660, DB019000
      Related
      ENST00000570890.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      6853576..6900349
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      6754289..6801050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_001072.1: Suppressed sequence

      Description
      NG_001072.1: This RefSeq was permanently suppressed because it represents a genomic segment and is replaced by a transcribed pseudogene with multiple exons.
    Nucleotide Protein
    Heading Accession and Version

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