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

Gene ID: 342850, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12093843..12181684)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (12256607..12344651)
105.20220307 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)

Genotypes

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_2023_10

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

Gene LinkOut

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