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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
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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

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