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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
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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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