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    ANKRD39 ankyrin repeat domain 39 [ Homo sapiens (human) ]

    Gene ID: 51239, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ANKRD39provided by HGNC
    Official Full Name
    ankyrin repeat domain 39provided by HGNC
    Primary source
    HGNC:HGNC:28640
    See related
    Ensembl:ENSG00000213337 AllianceGenome:HGNC:28640
    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
    Summary
    Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in protein K6-linked ubiquitination. Predicted to be part of BRCA1-A complex and BRCA1-BARD1 complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 6.7), adrenal (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96847990..96858016, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (97354621..97364647, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (97513727..97523753, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907859 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:97498033-97499232 Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97503062-97503618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97503619-97504173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97507205-97507810 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:97510949-97511138 Neighboring gene ankyrin repeat domain 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97531745-97532406 Neighboring gene collagen alpha-1(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97538976-97539476 Neighboring gene semaphorin 4C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97540777-97541537 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97541538-97542298 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:97547779-97548334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97553339-97553894 Neighboring gene family with sequence similarity 178 member B Neighboring gene Sharpr-MPRA regulatory region 12522 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:97564470-97564614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97569425-97569924 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:97572409-97573004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97578973-97579660 Neighboring gene uncharacterized LOC101927053

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Zhang QH, et al. Genome Res, 2000 Oct. PMID 11042152, Free PMC Article
    2. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. Rush J, et al. Nat Biotechnol, 2005 Jan. PMID 15592455
    3. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    4. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621

    See all (17) 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

    • MGC41816

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 39

    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_016466.6 → NP_057550.3  ankyrin repeat domain-containing protein 39

      See identical proteins and their annotated locations for NP_057550.3

      Status: VALIDATED

      Source sequence(s)
      BU626151, BX091421, DA769410
      Consensus CDS
      CCDS2028.1
      UniProtKB/Swiss-Prot
      Q53RE8, Q59FU2, Q8N5X5, Q9P0S5
      UniProtKB/TrEMBL
      B2R5H9
      Related
      ENSP00000377170.4, ENST00000393537.5
      Conserved Domains (3) summary
      sd00045
      Location:64 → 94
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:35 → 84
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:68 → 152
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      96847990..96858016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      97354621..97364647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53RE8.1 GenPept UniProtKB/Swiss-Prot:Q53RE8

    Gene LinkOut

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

    Chemical Information
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