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    CCDC121 coiled-coil domain containing 121 [ Homo sapiens (human) ]

    Gene ID: 79635, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC121provided by HGNC
    Official Full Name
    coiled-coil domain containing 121provided by HGNC
    Primary source
    HGNC:HGNC:25833
    See related
    Ensembl:ENSG00000176714 AllianceGenome:HGNC:25833
    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
    Expression
    Broad expression in testis (RPKM 10.2), ovary (RPKM 3.8) and 22 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CCDC121 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27625638..27629012, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27668723..27672097, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27848505..27851879, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4379 Neighboring gene SPATA31 subfamily H member 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27788766-27789965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15508 Neighboring gene zinc finger protein 512 Neighboring gene Sharpr-MPRA regulatory region 1109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15511 Neighboring gene GPN-loop GTPase 1 Neighboring gene small nucleolar RNA SNORA36 family Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27875474-27876673 Neighboring gene SPT7 like, STAGA complex subunit gamma

    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. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Kraja AT, et al. Diabetes, 2011 Apr. PMID 21386085, Free PMC Article
    2. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    4. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
    5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article

    See all (13) 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
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13646, FLJ43364

    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
    coiled-coil domain-containing protein 121

    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_001142683.3 → NP_001136155.1  coiled-coil domain-containing protein 121 isoform 2

      See identical proteins and their annotated locations for NP_001136155.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AC074091, AK125354, BC066936, BC066969, DB325100, DB452051
      Consensus CDS
      CCDS46247.1
      UniProtKB/Swiss-Prot
      Q6ZUS5
      Related
      ENSP00000412150.2, ENST00000394775.3
      Conserved Domains (1) summary
      pfam14988
      Location:197 → 402
      DUF4515; Domain of unknown function (DUF4515)

    2. NM_024584.5 → NP_078860.2  coiled-coil domain-containing protein 121 isoform 3

      See identical proteins and their annotated locations for NP_078860.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 2. The encoded isoform (3) is shorter than isoform 2.
      Source sequence(s)
      AC074091, AK125354, BC066936
      Consensus CDS
      CCDS1759.1
      UniProtKB/Swiss-Prot
      B3KW66, J3KQZ8, Q6ZUS5, Q9H8G6
      Related
      ENSP00000339087.2, ENST00000324364.4
      Conserved Domains (1) summary
      pfam14988
      Location:35 → 240
      DUF4515; Domain of unknown function (DUF4515)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27625638..27629012 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27668723..27672097 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001142682.1: Suppressed sequence

      Description
      NM_001142682.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZUS5.1 GenPept UniProtKB/Swiss-Prot:Q6ZUS5

    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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