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    ANKRD40 ankyrin repeat domain 40 [ Homo sapiens (human) ]

    Gene ID: 91369, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ANKRD40provided by HGNC
    Official Full Name
    ankyrin repeat domain 40provided by HGNC
    Primary source
    HGNC:HGNC:28233
    See related
    Ensembl:ENSG00000154945 AllianceGenome:HGNC:28233
    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
    Expression
    Ubiquitous expression in fat (RPKM 27.4), brain (RPKM 23.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD40 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50693198..50707914, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51560394..51575123, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48770559..48785275, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel subunit alpha1 G Neighboring gene uncharacterized LOC101927253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8706 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48715992-48717191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48717641-48718411 Neighboring gene ATP binding cassette subfamily C member 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48738547-48739746 Neighboring gene Sharpr-MPRA regulatory region 5804 Neighboring gene ABCC3 (B) eExon liver enhancer Neighboring gene Sharpr-MPRA regulatory region 2031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48802297-48802796 Neighboring gene LUC7 like 3 pre-mRNA splicing factor Neighboring gene Sharpr-MPRA regulatory region 5668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12389 Neighboring gene ANKRD40 C-terminal like

    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. Proteomic dissection of the von Hippel-Lindau (VHL) interactome. Lai Y, et al. J Proteome Res, 2011 Nov 4. PMID 21942715, Free PMC Article
    2. The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. O'Loughlin T, et al. EMBO Rep, 2018 Apr. PMID 29467281, Free PMC Article
    3. SARS-CoV-2 Disrupts Splicing, Translation, and Protein Trafficking to Suppress Host Defenses. Banerjee AK, et al. Cell, 2020 Nov 25. PMID 33080218, Free PMC Article
    4. SARS-CoV-2 spike protein induces endothelial inflammation via ACE2 independently of viral replication. Montezano AC, et al. Sci Rep, 2023 Aug 28. PMID 37640791, Free PMC Article
    5. UM171 Preserves Epigenetic Marks that Are Reduced in Ex Vivo Culture of Human HSCs via Potentiation of the CLR3-KBTBD4 Complex. Chagraoui J, et al. Cell Stem Cell, 2021 Jan 7. PMID 33417871

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC15396, DKFZp451K241

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 40

    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_052855.4 → NP_443087.1  ankyrin repeat domain-containing protein 40

      See identical proteins and their annotated locations for NP_443087.1

      Status: VALIDATED

      Source sequence(s)
      AC005921, BC012978
      Consensus CDS
      CCDS11572.1
      UniProtKB/Swiss-Prot
      Q6AI12, Q96E32
      UniProtKB/TrEMBL
      A8IK34
      Related
      ENSP00000285243.6, ENST00000285243.7
      Conserved Domains (4) summary
      cd00204
      Location:14 → 93
      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:48 → 93
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:14 → 64
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:14 → 40
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50693198..50707914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51560394..51575123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6AI12.2 GenPept UniProtKB/Swiss-Prot:Q6AI12

    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