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    CCDC116 coiled-coil domain containing 116 [ Homo sapiens (human) ]

    Gene ID: 164592, updated on 10-Dec-2024

    Summary

    Official Symbol
    CCDC116provided by HGNC
    Official Full Name
    coiled-coil domain containing 116provided by HGNC
    Primary source
    HGNC:HGNC:26688
    See related
    Ensembl:ENSG00000161180 AllianceGenome:HGNC:26688
    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 centrosome. Implicated in lung cancer. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 8.7) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCDC116 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21632760..21637329)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (22046244..22050813)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21987049..21991618)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RIMS binding protein 3C Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21908512-21908665 Neighboring gene Sharpr-MPRA regulatory region 10827 Neighboring gene ubiquitin conjugating enzyme E2 L3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21914232-21914792 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21920997-21921184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21945023-21945836 Neighboring gene VISTA enhancer hs2026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21977501-21978034 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21979673-21979941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21982145-21982752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21986781-21987280 Neighboring gene YdjC chitooligosaccharide deacetylase homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13512 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr22:22006055-22006725 Neighboring gene stromal cell derived factor 2 like 1 Neighboring gene uncharacterized LOC107985532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22006726-22007397 Neighboring gene microRNA 301b

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36046

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 116

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001331066.2NP_001317995.1  coiled-coil domain-containing protein 116 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK302030, AP000553
      Consensus CDS
      CCDS87008.1
      UniProtKB/Swiss-Prot
      Q8IYX3
      Related
      ENSP00000476296.1, ENST00000607942.5
    2. NM_152612.3NP_689825.2  coiled-coil domain-containing protein 116 isoform 1

      See identical proteins and their annotated locations for NP_689825.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP000553, BC033499
      Consensus CDS
      CCDS13791.1
      UniProtKB/Swiss-Prot
      B7Z7H5, Q8IYX3, Q8N9Y9
      Related
      ENSP00000292779.3, ENST00000292779.4
      Conserved Domains (1) summary
      pfam15774
      Location:18401
      DUF4702; Domain of unknown function (DUF4702)

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      21632760..21637329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441169.1XP_047297125.1  coiled-coil domain-containing protein 116 isoform X2

    2. XM_006724159.3XP_006724222.1  coiled-coil domain-containing protein 116 isoform X1

      Conserved Domains (1) summary
      pfam15774
      Location:84467
      DUF4702; Domain of unknown function (DUF4702)
    3. XM_011529985.2XP_011528287.1  coiled-coil domain-containing protein 116 isoform X4

      Conserved Domains (1) summary
      pfam15774
      Location:84287
      DUF4702; Domain of unknown function (DUF4702)
    4. XM_011529984.3XP_011528286.1  coiled-coil domain-containing protein 116 isoform X3

      Conserved Domains (1) summary
      pfam15774
      Location:1366
      DUF4702; Domain of unknown function (DUF4702)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      22046244..22050813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325194.1XP_054181169.1  coiled-coil domain-containing protein 116 isoform X2

    2. XM_054325193.1XP_054181168.1  coiled-coil domain-containing protein 116 isoform X1

    3. XM_054325195.1XP_054181170.1  coiled-coil domain-containing protein 116 isoform X3