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    SOWAHB sosondowah ankyrin repeat domain family member B [ Homo sapiens (human) ]

    Gene ID: 345079, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SOWAHBprovided by HGNC
    Official Full Name
    sosondowah ankyrin repeat domain family member Bprovided by HGNC
    Primary source
    HGNC:HGNC:32958
    See related
    Ensembl:ENSG00000186212 AllianceGenome:HGNC:32958
    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
    ANKRD56
    Orthologs
    mouse all
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    Genomic context

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    See SOWAHB in Genome Data Viewer
    Location:
    4q21.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (76894152..76898144, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (80234914..80238906, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (77815305..77819297, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene putative uncharacterized protein encoded by LINC00596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15493 Neighboring gene microtubule affinity regulating kinase 2 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr4:77811512-77811696 Neighboring gene ribosomal protein L26 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15496 Neighboring gene uncharacterized LOC105377294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15498 Neighboring gene septin 11 Neighboring gene thioredoxin pseudogene 6

    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. Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution. Boueiz A, et al. Am J Respir Crit Care Med, 2017 Mar 15. PMID 27669027, Free PMC Article
    2. Ankyrins, multifunctional proteins involved in many cellular pathways. Hryniewicz-Jankowska A, et al. Folia Histochem Cytobiol, 2002. PMID 12219834
    3. Identification of a Set of Genes Improving Survival Prediction in Kidney Renal Clear Cell Carcinoma through Integrative Reanalysis of Transcriptomic Data. Ruan B, et al. Dis Markers, 2020. PMID 33110456, Free PMC Article
    4. 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
    5. The ankyrin repeat: a diversity of interactions on a common structural framework. Sedgwick SG, et al. Trends Biochem Sci, 1999 Aug. PMID 10431175

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of a Set of Genes Improving Survival Prediction in Kidney Renal Clear Cell Carcinoma through Integrative Reanalysis of Transcriptomic Data.
      Title: Identification of a Set of Genes Improving Survival Prediction in Kidney Renal Clear Cell Carcinoma through Integrative Reanalysis of Transcriptomic Data.
    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein SOWAHB
    Names
    ankyrin repeat domain 56
    ankyrin repeat domain-containing protein 56
    protein sosondowah homolog B

    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_001029870.3 → NP_001025041.1  ankyrin repeat domain-containing protein SOWAHB

      See identical proteins and their annotated locations for NP_001025041.1

      Status: VALIDATED

      Source sequence(s)
      AC104687, BC137255
      Consensus CDS
      CCDS34017.1
      UniProtKB/Swiss-Prot
      A6NEL2, B2RP29
      Related
      ENSP00000334879.2, ENST00000334306.4
      Conserved Domains (2) summary
      cd00204
      Location:630 → 707
      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:631 → 667
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      76894152..76898144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      80234914..80238906 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NEL2.1 GenPept UniProtKB/Swiss-Prot:A6NEL2

    Gene LinkOut

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

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