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    ANKRD7 ankyrin repeat domain 7 [ Homo sapiens (human) ]

    Gene ID: 56311, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ANKRD7provided by HGNC
    Official Full Name
    ankyrin repeat domain 7provided by HGNC
    Primary source
    HGNC:HGNC:18588
    See related
    Ensembl:ENSG00000106013 MIM:610731; AllianceGenome:HGNC:18588
    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
    TSA806
    Summary
    Predicted to act upstream of or within blastocyst hatching. Located in centrosome and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 443.3) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q31.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (118224704..118242732)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (119540436..119558474)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117864758..117882786)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375470 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:117830912-117831127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26548 Neighboring gene LSM8 homolog, U6 small nuclear RNA associated Neighboring gene NANOG hESC enhancer GRCh37_chr7:117893129-117893637 Neighboring gene uncharacterized LOC102724495 Neighboring gene uncharacterized LOC124901815

    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. ANKRD7 and CYTL1 are novel risk genes for alcohol drinking behavior. Chen XD, et al. Chin Med J (Engl), 2012 Mar. PMID 22613542, Free PMC Article
    2. Isolation of three testis-specific genes (TSA303, TSA806, TSA903) by a differential mRNA display method. Ozaki K, et al. Genomics, 1996 Sep 1. PMID 8812458
    3. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
    4. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    5. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

    See all (9) 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

    Potential readthrough

    Included gene: LSM8

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 7
    Names
    testicular tissue protein Li 19
    testis-specific ankyrin motif containing protein
    testis-specific protein TSA806

    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_019644.4 → NP_062618.2  ankyrin repeat domain-containing protein 7

      See identical proteins and their annotated locations for NP_062618.2

      Status: VALIDATED

      Source sequence(s)
      AA435914, AC004029, AI126287, AK302407
      Consensus CDS
      CCDS43638.1
      UniProtKB/Swiss-Prot
      B4DYF5, Q92527, Q96QN1, Q9UDM3
      UniProtKB/TrEMBL
      A0A140VJE5
      Related
      ENSP00000265224.4, ENST00000265224.9
      Conserved Domains (3) summary
      cd00204
      Location:53 → 178
      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 ...
      sd00045
      Location:60 → 122
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:158 → 211
      Ank_4; Ankyrin repeats (many 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      118224704..118242732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      119540436..119558474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001077708.1: Suppressed sequence

      Description
      NM_001077708.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92527.3 GenPept UniProtKB/Swiss-Prot:Q92527

    Gene LinkOut

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

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