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    ANKRD62 ankyrin repeat domain 62 [ Homo sapiens (human) ]

    Gene ID: 342850, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD62provided by HGNC
    Official Full Name
    ankyrin repeat domain 62provided by HGNC
    Primary source
    HGNC:HGNC:35241
    See related
    Ensembl:ENSG00000181626 AllianceGenome:HGNC:35241
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DKFZp779B1634
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ANKRD62 in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12093843..12181684)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (12256607..12344651)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12093842..12129763)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9305 Neighboring gene ADGRA3 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12086167-12086899 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12089047-12089547 Neighboring gene nuclear factor kappa B subunit 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13100 Neighboring gene RNA, U6 small nuclear 324, pseudogene Neighboring gene succinate dehydrogenase complex subunit D pseudogene 1 Neighboring gene phosphomannomutase 2 pseudogene 2 Neighboring gene C18orf61 intron ENCODE-defined enhancer Neighboring gene uncharacterized LOC497259 Neighboring gene MIX23 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. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    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

    Homology

    Clone Names

    • DKFZp686E2239

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 62

    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.

    mRNA and Protein(s)

    1. NM_001277333.2 → NP_001264262.1  ankyrin repeat domain-containing protein 62

      See identical proteins and their annotated locations for NP_001264262.1

      Status: VALIDATED

      Source sequence(s)
      AP002414, BX648696, BX649021, DW010010, DW010011, EG328348
      Consensus CDS
      CCDS67439.1
      UniProtKB/Swiss-Prot
      A6NC57
      Related
      ENSP00000467740.2, ENST00000587848.3
      Conserved Domains (5) summary
      cd00204
      Location:66 → 191
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:76 → 167
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:42 → 92
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:561 → 846
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:73 → 102
      ANK; ANK repeat [structural motif]

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      12093843..12181684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001753188.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      12256607..12344651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008484999.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NC57.4 GenPept UniProtKB/Swiss-Prot:A6NC57

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