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    SOWAHC sosondowah ankyrin repeat domain family member C [ Homo sapiens (human) ]

    Gene ID: 65124, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SOWAHCprovided by HGNC
    Official Full Name
    sosondowah ankyrin repeat domain family member Cprovided by HGNC
    Primary source
    HGNC:HGNC:26149
    See related
    Ensembl:ENSG00000198142 AllianceGenome:HGNC:26149
    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
    ANKRD57; C2orf26
    Orthologs
    mouse all
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    Genomic context

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    See SOWAHC in Genome Data Viewer
    Location:
    2q13
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (109614364..109618990)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (110075428..110080054)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (110371941..110376567)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RAN binding protein 2 Neighboring gene SH3 domain containing ring finger 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:109933325-109934314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:109934315-109935303 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:109964015-109964260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16362 Neighboring gene microRNA 4266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110012695-110013196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110013197-110013696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110031578-110032191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110032192-110032804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110046278-110046841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110063255-110063754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:110065234-110065738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110275114-110275653 Neighboring gene Sharpr-MPRA regulatory region 2497 Neighboring gene MPRA-validated peak3814 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110352345-110352845 Neighboring gene septin 10 Neighboring gene ribosomal protein L37 pseudogene 12 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:110370433-110371342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110428681-110429181 Neighboring gene uncharacterized LOC105373545 Neighboring gene BMS1 pseudogene 19

    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. Methylation‑driven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma. Zhu Q, et al. Mol Med Rep, 2020 Mar. PMID 32016477, Free PMC Article
    2. An ancient genomic regulatory block conserved across bilaterians and its dismantling in tetrapods by retrogene replacement. Maeso I, et al. Genome Res, 2012 Apr. PMID 22234889, Free PMC Article
    3. DEPDC1B coordinates de-adhesion events and cell-cycle progression at mitosis. Marchesi S, et al. Dev Cell, 2014 Nov 24. PMID 25458010, Free PMC Article
    4. Expanding the Interactome of TES by Exploiting TES Modules with Different Subcellular Localizations. Sala S, et al. J Proteome Res, 2017 May 5. PMID 28378594
    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 (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Methylationdriven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma.
      Title: Methylation‑driven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein SOWAHC
    Names
    ankyrin repeat domain 57
    ankyrin repeat domain-containing protein 57
    protein sosondowah homolog C

    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_023016.4 → NP_075392.2  ankyrin repeat domain-containing protein SOWAHC

      See identical proteins and their annotated locations for NP_075392.2

      Status: VALIDATED

      Source sequence(s)
      AC011753, AK023346, AK025523, BC066772
      Consensus CDS
      CCDS33270.1
      UniProtKB/Swiss-Prot
      Q53LP3, Q8NE15, Q9H6U1
      Related
      ENSP00000365830.2, ENST00000356454.5
      Conserved Domains (3) summary
      cd00204
      Location:301 → 375
      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:272 → 372
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:302 → 338
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      109614364..109618990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      110075428..110080054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53LP3.1 GenPept UniProtKB/Swiss-Prot:Q53LP3

    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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    Tools
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