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    ANKRD34C ankyrin repeat domain 34C [ Homo sapiens (human) ]

    Gene ID: 390616, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ANKRD34Cprovided by HGNC
    Official Full Name
    ankyrin repeat domain 34Cprovided by HGNC
    Primary source
    HGNC:HGNC:33888
    See related
    Ensembl:ENSG00000235711 AllianceGenome:HGNC:33888
    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
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q25.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (79282722..79298239)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (77146244..77161753)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (79575064..79590581)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ANKRD34C antisense RNA 1 Neighboring gene microRNA 184 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:79574999-79575538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:79621073-79622272 Neighboring gene transmembrane p24 trafficking protein 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:79665964-79666609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9932 Neighboring gene NANOG hESC enhancer GRCh37_chr15:79711103-79711636 Neighboring gene membrane integral NOTCH2 associated receptor 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:79756173-79757372 Neighboring gene uncharacterized LOC105370918

    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. USP45 and Spindly are part of the same complex implicated in cell migration. Conte C, et al. Sci Rep, 2018 Sep 26. PMID 30258100, Free PMC Article
    2. NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90. Chen W, et al. Cell Death Dis, 2020 Jul 14. PMID 32665550, Free PMC Article
    3. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. Moutaoufik MT, et al. iScience, 2019 Sep 27. PMID 31536960, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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

    • FLJ33346, FLJ45093

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in pi-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 34C

    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_001146341.2 → NP_001139813.1  ankyrin repeat domain-containing protein 34C

      See identical proteins and their annotated locations for NP_001139813.1

      Status: VALIDATED

      Source sequence(s)
      AC011797, AK090665, AK127037, AL109678
      Consensus CDS
      CCDS53965.1
      UniProtKB/Swiss-Prot
      H3BNM1, P0C6C1
      Related
      ENSP00000401089.2, ENST00000421388.4
      Conserved Domains (3) summary
      cd00204
      Location:32 → 139
      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 ...
      pfam13637
      Location:46 → 106
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:43 → 82
      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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      79282722..79298239
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      77146244..77161753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C6C1.2 GenPept UniProtKB/Swiss-Prot:P0C6C1

    Gene LinkOut

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

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