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

Gene ID: 57763, updated on 5-Mar-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 cytosol and membrane. Part of protein-containing complex. Colocalizes with 3M complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 11.0), endometrium (RPKM 9.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (73552190..73565639, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (74033518..74046951, complement)
105.20220307 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
  • 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_2023_10

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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