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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
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Genomic context

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See ANKMY2 in Genome Data Viewer
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

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