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    CCDC126 coiled-coil domain containing 126 [ Homo sapiens (human) ]

    Gene ID: 90693, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCDC126provided by HGNC
    Official Full Name
    coiled-coil domain containing 126provided by HGNC
    Primary source
    HGNC:HGNC:22398
    See related
    Ensembl:ENSG00000169193 AllianceGenome:HGNC:22398
    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
    Summary
    Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 9.1), thyroid (RPKM 4.5) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See CCDC126 in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23597382..23644708)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23736740..23784002)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23637001..23684327)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18014 Neighboring gene CDC like kinase 2, pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:23645851-23645985 Neighboring gene FCF1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:23694754-23695254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25739 Neighboring gene family with sequence similarity 221 member A Neighboring gene serine/threonine kinase 31 Neighboring gene protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 3

    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. Novel eye genes systematically discovered through an integrated analysis of mouse transcriptomes and phenome. Chiang CY, et al. Comput Struct Biotechnol J, 2020. PMID 31934309, Free PMC Article
    2. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563, Free PMC Article
    3. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    4. Global mapping of herpesvirus-host protein complexes reveals a transcription strategy for late genes. Davis ZH, et al. Mol Cell, 2015 Jan 22. PMID 25544563, Free PMC Article
    5. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

    See all (11) 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

    Homology

    Clone Names

    • FLJ23031, MGC104248

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 126

    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_138771.4 → NP_620126.2  coiled-coil domain-containing protein 126 precursor

      See identical proteins and their annotated locations for NP_620126.2

      Status: VALIDATED

      Source sequence(s)
      AC006026, AL598772, AY358713
      Consensus CDS
      CCDS5384.1
      UniProtKB/Swiss-Prot
      A8K1J6, Q6UWP1, Q75MQ6, Q96EE4
      Related
      ENSP00000304355.3, ENST00000307471.8
      Conserved Domains (1) summary
      pfam15027
      Location:3 → 137
      DUF4525; Domain of unknown function (DUF4525)

    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
      23597382..23644708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012775.3 → XP_016868264.1  coiled-coil domain-containing protein 126 isoform X1

      UniProtKB/Swiss-Prot
      A8K1J6, Q6UWP1, Q75MQ6, Q96EE4
      Related
      ENSP00000386355.1, ENST00000410069.1
      Conserved Domains (1) summary
      pfam15027
      Location:3 → 137
      DUF4525; Domain of unknown function (DUF4525)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      23736740..23784002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359304.1 → XP_054215279.1  coiled-coil domain-containing protein 126 isoform X1

      UniProtKB/Swiss-Prot
      A8K1J6, Q6UWP1, Q75MQ6, Q96EE4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96EE4.2 GenPept UniProtKB/Swiss-Prot:Q96EE4

    Gene LinkOut

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

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