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    ANKMY2 ankyrin repeat and MYND domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 57037, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ANKMY2provided by HGNC
    Official Full Name
    ankyrin repeat and MYND domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:25370
    See related
    Ensembl:ENSG00000106524 AllianceGenome:HGNC:25370
    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
    ZMYND20
    Summary
    Predicted to enable enzyme binding activity and metal ion binding activity. Predicted to be located in cilium. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 13.9), thyroid (RPKM 13.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7p21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (16599779..16645754, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (16729480..16775453, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (16639404..16685379, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 72 Neighboring gene ataxin 2 like pseudogene Neighboring gene uncharacterized LOC105375169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25669 Neighboring gene NANOG hESC enhancer GRCh37_chr7:16687980-16688491 Neighboring gene NANOG hESC enhancer GRCh37_chr7:16697377-16697960 Neighboring gene basic leucine zipper and W2 domains 2 Neighboring gene Sharpr-MPRA regulatory region 12164 Neighboring gene tetraspanin 13 Neighboring gene uncharacterized LOC124901593

    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. Identification of Small-Molecule PHD2 Zinc Finger Inhibitors that Activate Hypoxia Inducible Factor. Arsenault PR, et al. Chembiochem, 2016 Dec 14. PMID 27770548, Free PMC Article
    2. Role of the ANKMY2-FKBP38 axis in regulation of the Sonic hedgehog (Shh) signaling pathway. Saita S, et al. J Biol Chem, 2014 Sep 12. PMID 25077969, Free PMC Article
    3. Interactome Analysis of Human Phospholipase D and Phosphatidic Acid-Associated Protein Network. Kattan RE, et al. Mol Cell Proteomics, 2022 Feb. PMID 35007762, Free PMC Article
    4. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article
    5. hnRNPA1 couples nuclear export and translation of specific mRNAs downstream of FGF-2/S6K2 signalling. Roy R, et al. Nucleic Acids Res, 2014 Nov 10. PMID 25324306, Free PMC Article

    See all (27) citations in PubMed

    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

    • DKFZp564O043

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and MYND domain-containing protein 2

    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_020319.3 → NP_064715.1  ankyrin repeat and MYND domain-containing protein 2

      See identical proteins and their annotated locations for NP_064715.1

      Status: VALIDATED

      Source sequence(s)
      BC015453, BC035353
      Consensus CDS
      CCDS5361.1
      UniProtKB/Swiss-Prot
      A4D124, Q659G1, Q8IV38, Q96BL3
      UniProtKB/TrEMBL
      B3KN56
      Related
      ENSP00000303570.2, ENST00000306999.7
      Conserved Domains (4) summary
      cd00204
      Location:31 → 132
      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 ...
      sd00045
      Location:45 → 77
      ANK; ANK repeat [structural motif]
      pfam01753
      Location:320 → 357
      zf-MYND; MYND finger
      cl26073
      Location:30 → 236
      Ank_2; Ankyrin repeats (3 copies)

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      16599779..16645754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      16729480..16775453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IV38.1 GenPept UniProtKB/Swiss-Prot:Q8IV38

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous