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    ANKRA2 ankyrin repeat family A member 2 [ Homo sapiens (human) ]

    Gene ID: 57763, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANKRA2provided by HGNC
    Official Full Name
    ankyrin repeat family A member 2provided by HGNC
    Primary source
    HGNC:HGNC:13208
    See related
    Ensembl:ENSG00000164331 MIM:605787; AllianceGenome:HGNC:13208
    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
    ANKRA
    Summary
    Enables enzyme binding activity and low-density lipoprotein particle receptor binding activity. Involved in regulation of protein-containing complex assembly. Located in 3M complex; cytosol; and membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.0), endometrium (RPKM 9.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRA2 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (73552190..73565639, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (74033518..74046951, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (72848015..72861464, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:72794255-72795065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16090 Neighboring gene FUN14 domain containing 2 pseudogene 1 Neighboring gene basic transcription factor 3 Neighboring gene H3K27ac hESC enhancers GRCh37_chr5:72860724-72861278 and GRCh37_chr5:72861279-72861833 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:72895316-72895509 Neighboring gene UTP15 small subunit processome component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16091 Neighboring gene uncharacterized LOC107986423 Neighboring gene Rho guanine nucleotide exchange factor 28

    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. Assignment of ankyrin repeat, family A (RFXANK-like) 2 (ANKRA2) to human chromosome 5q12-->q13 by radiation hybrid mapping and somatic cell hybrid PCR. Rader K, et al. Cytogenet Cell Genet, 2000. PMID 10965114
    2. Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK. Gao J, et al. Biochem Biophys Res Commun, 2020 Feb 26. PMID 31864703
    3. Molecular mechanism of transcriptional repression of AhR repressor involving ANKRA2, HDAC4, and HDAC5. Oshima M, et al. Biochem Biophys Res Commun, 2007 Dec 14. PMID 17949687
    4. Characterization of ANKRA, a novel ankyrin repeat protein that interacts with the cytoplasmic domain of megalin. Rader K, et al. J Am Soc Nephrol, 2000 Dec. PMID 11095640
    5. ZNF76, a novel transcriptional repressor targeting TATA-binding protein, is modulated by sumoylation. Zheng G, et al. J Biol Chem, 2004 Oct 8. PMID 15280358

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK.
      Title: Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK.
    2. ANKRA, RFXANK, and CIITA are novel targets of class IIa HDACs which may deacetylases play a role in regulating MHCII expression
      Title: Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases.
    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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone deacetylase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of 3M complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat family A protein 2
    Names
    RFXANK-like protein 2
    ankyrin repeat, family A (RFXANK-like), 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_023039.5 → NP_075526.1  ankyrin repeat family A protein 2

      See identical proteins and their annotated locations for NP_075526.1

      Status: VALIDATED

      Source sequence(s)
      AC010279, AL558295, BC012917, DB543368
      Consensus CDS
      CCDS4020.1
      UniProtKB/Swiss-Prot
      Q9H9E1
      Related
      ENSP00000296785.3, ENST00000296785.8
      Conserved Domains (4) summary
      cd00204
      Location:176 → 296
      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:186 → 277
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:153 → 202
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:181 → 212
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      73552190..73565639 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248560.4 → XP_005248617.1  ankyrin repeat family A protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005248617.1

      Conserved Domains (2) summary
      sd00045
      Location:113 → 144
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:118 → 208
      Ank_2; Ankyrin repeats (3 copies)

    2. XM_017009678.3 → XP_016865167.1  ankyrin repeat family A protein 2 isoform X3

      Conserved Domains (3) summary
      cd00204
      Location:15 → 135
      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:25 → 116
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:20 → 51
      ANK; ANK repeat [structural motif]

    3. XM_047417455.1 → XP_047273411.1  ankyrin repeat family A protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      74033518..74046951 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353020.1 → XP_054208995.1  ankyrin repeat family A protein 2 isoform X1

    2. XM_054353022.1 → XP_054208997.1  ankyrin repeat family A protein 2 isoform X3

    3. XM_054353021.1 → XP_054208996.1  ankyrin repeat family A protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H9E1.1 GenPept UniProtKB/Swiss-Prot:Q9H9E1

    Gene LinkOut

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

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