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    ANKRD60 ankyrin repeat domain 60 [ Homo sapiens (human) ]

    Gene ID: 140731, updated on 17-Sep-2024

    Summary

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    Official Symbol
    ANKRD60provided by HGNC
    Official Full Name
    ankyrin repeat domain 60provided by HGNC
    Primary source
    HGNC:HGNC:16217
    See related
    Ensembl:ENSG00000124227 AllianceGenome:HGNC:16217
    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
    C20orf86; bA196N14.3
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD60 in Genome Data Viewer
    Location:
    20q13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (58216126..58228653, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (59997151..60009656, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (56791182..56803709, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985434 Neighboring gene uncharacterized LOC105372694 Neighboring gene ciliary microtubule inner protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56750743-56751243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13069 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:56816520-56817020 Neighboring gene protein phosphatase 4 regulatory subunit 1 like (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56877500-56878000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13071 Neighboring gene RAB22A, member RAS oncogene family

    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 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. Identification of 15 loci influencing height in a Korean population. Kim JJ, et al. J Hum Genet, 2010 Jan. PMID 19893584
    2. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article
    4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Identification of 15 loci influencing height in a Korean population.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Identification of 15 loci influencing height in a Korean population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 60

    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_001304369.2 → NP_001291298.1  ankyrin repeat domain-containing protein 60

      See identical proteins and their annotated locations for NP_001291298.1

      Status: VALIDATED

      Source sequence(s)
      AL354776
      Consensus CDS
      CCDS77596.1
      UniProtKB/Swiss-Prot
      Q4VXE6, Q9BZ19
      Related
      ENSP00000396747.1, ENST00000457363.2
      Conserved Domains (4) summary
      cd01769
      Location:103 → 163
      UBL; Ubiquitin-like domain of UBL
      cd00204
      Location:171 → 298
      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 ...
      pfam13857
      Location:239 → 293
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:223 → 250
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      58216126..58228653 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439903.1 → XP_047295859.1  ankyrin repeat domain-containing protein 60 isoform X2

    2. XM_047439902.1 → XP_047295858.1  ankyrin repeat domain-containing protein 60 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      59997151..60009656 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323014.1 → XP_054178989.1  ankyrin repeat domain-containing protein 60 isoform X2

    2. XM_054323013.1 → XP_054178988.1  ankyrin repeat domain-containing protein 60 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_080674.1: Suppressed sequence

      Description
      NM_080674.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZ19.3 GenPept UniProtKB/Swiss-Prot:Q9BZ19

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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