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    CCDC59 coiled-coil domain containing 59 [ Homo sapiens (human) ]

    Gene ID: 29080, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCDC59provided by HGNC
    Official Full Name
    coiled-coil domain containing 59provided by HGNC
    Primary source
    HGNC:HGNC:25005
    See related
    Ensembl:ENSG00000133773 MIM:619280; AllianceGenome:HGNC:25005
    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
    BR22; TAP26; HSPC128
    Summary
    Enables RNA binding activity. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 20.9), testis (RPKM 10.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q21.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (82352303..82358805, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (82331767..82338265, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (82746082..82752584, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2426 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:82495963-82497162 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:82514940-82515440 Neighboring gene uncharacterized LOC105369873 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:82540979-82541568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:82707907-82708408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:82751975-82752535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:82752536-82753096 Neighboring gene methyltransferase like 25 Neighboring gene Sharpr-MPRA regulatory region 15106 Neighboring gene hepatitis A virus cellular receptor 1 pseudogene Neighboring gene uncharacterized LOC107987180

    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. BR22, a 26 kDa thyroid transcription factor-1 associated protein (TAP26), is expressed in human lung cells. Yang MC, et al. Eur Respir J, 2003 Jul. PMID 12882447
    2. BR22, a novel protein, interacts with thyroid transcription factor-1 and activates the human surfactant protein B promoter. Yang YS, et al. Am J Respir Cell Mol Biol, 2001 Jan. PMID 11152647
    3. The TTF-1/TAP26 complex differentially modulates surfactant protein-B (SP-B) and -C (SP-C) promoters in lung cells. Yang MC, et al. Biochem Biophys Res Commun, 2006 Jun 2. PMID 16630564
    4. Genome-wide association analyses identify variants in developmental genes associated with hypospadias. Geller F, et al. Nat Genet, 2014 Sep. PMID 25108383
    5. FOXA1 Directs H3K4 Monomethylation at Enhancers via Recruitment of the Methyltransferase MLL3. Jozwik KM, et al. Cell Rep, 2016 Dec 6. PMID 27926873, Free PMC Article

    See all (42) 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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10294, DKFZp686K1021

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    thyroid transcription factor 1-associated protein 26
    Names
    TTF-1-associated protein 26
    TTF-1-associated protein BR2
    coiled-coil domain-containing protein 59

    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_014167.5 → NP_054886.2  thyroid transcription factor 1-associated protein 26

      See identical proteins and their annotated locations for NP_054886.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC083811, BC020647, BG538660
      Consensus CDS
      CCDS9023.1
      UniProtKB/Swiss-Prot
      Q9H2V5, Q9NW62, Q9P031
      Related
      ENSP00000256151.7, ENST00000256151.8
      Conserved Domains (1) summary
      pfam08524
      Location:160 → 238
      rRNA_processing; rRNA processing

    RNA

    1. NR_033192.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC083811, BM846580, DA666239

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      82352303..82358805 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      82331767..82338265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P031.2 GenPept UniProtKB/Swiss-Prot:Q9P031

    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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    Research Materials
    Tools
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