U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    CCDC146 coiled-coil domain containing 146 [ Homo sapiens (human) ]

    Gene ID: 57639, updated on 11-Apr-2024

    Summary

    Official Symbol
    CCDC146provided by HGNC
    Official Full Name
    coiled-coil domain containing 146provided by HGNC
    Primary source
    HGNC:HGNC:29296
    See related
    Ensembl:ENSG00000135205 MIM:619829; AllianceGenome:HGNC:29296
    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
    MBO2
    Summary
    Located in centriole. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 14.9), skin (RPKM 7.4) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCDC146 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (77122615..77295204)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (78373727..78546266)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76751932..76924521)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 pseudogene Neighboring gene family with sequence similarity 185, member A pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76750721-76751222 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76751223-76751722 Neighboring gene uncharacterized LOC124901678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26203 Neighboring gene ribosomal protein L7a pseudogene 43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26204 Neighboring gene uncharacterized LOC105375359 Neighboring gene fibrinogen like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18319 Neighboring gene uncharacterized LOC102723791 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:76900911-76901093 Neighboring gene NANOG hESC enhancer GRCh37_chr7:76945409-76945910 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:76977350-76977924 Neighboring gene gamma-secretase activating protein Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:77021860-77023059 Neighboring gene uncharacterized LOC101927243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18322 Neighboring gene small nucleolar RNA U13

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1505

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in manchette assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sperm axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sperm flagellum assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sperm connecting piece ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 146

    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_020879.3NP_065930.2  coiled-coil domain-containing protein 146

      See identical proteins and their annotated locations for NP_065930.2

      Status: VALIDATED

      Source sequence(s)
      AC007000, AK056542, BC036053, DB099681
      Consensus CDS
      CCDS34671.1
      UniProtKB/Swiss-Prot
      A8K8X6, Q8IYE0, Q9P223
      Related
      ENSP00000285871.4, ENST00000285871.5
      Conserved Domains (1) summary
      COG1196
      Location:68859
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    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
      77122615..77295204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420662.1XP_047276618.1  coiled-coil domain-containing protein 146 isoform X1

      UniProtKB/Swiss-Prot
      A8K8X6, Q8IYE0, Q9P223
    2. XM_047420664.1XP_047276620.1  coiled-coil domain-containing protein 146 isoform X3

    3. XM_047420669.1XP_047276625.1  coiled-coil domain-containing protein 146 isoform X8

      Related
      ENST00000415740.6
    4. XM_047420665.1XP_047276621.1  coiled-coil domain-containing protein 146 isoform X4

    5. XM_047420663.1XP_047276619.1  coiled-coil domain-containing protein 146 isoform X2

    6. XM_047420666.1XP_047276622.1  coiled-coil domain-containing protein 146 isoform X5

    7. XM_047420668.1XP_047276624.1  coiled-coil domain-containing protein 146 isoform X7

    8. XM_047420667.1XP_047276623.1  coiled-coil domain-containing protein 146 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      78373727..78546266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358720.1XP_054214695.1  coiled-coil domain-containing protein 146 isoform X1

      UniProtKB/Swiss-Prot
      A8K8X6, Q8IYE0, Q9P223
    2. XM_054358722.1XP_054214697.1  coiled-coil domain-containing protein 146 isoform X3

    3. XM_054358727.1XP_054214702.1  coiled-coil domain-containing protein 146 isoform X8

    4. XM_054358723.1XP_054214698.1  coiled-coil domain-containing protein 146 isoform X4

    5. XM_054358724.1XP_054214699.1  coiled-coil domain-containing protein 146 isoform X5

    6. XM_054358721.1XP_054214696.1  coiled-coil domain-containing protein 146 isoform X2

    7. XM_054358726.1XP_054214701.1  coiled-coil domain-containing protein 146 isoform X7

    8. XM_054358725.1XP_054214700.1  coiled-coil domain-containing protein 146 isoform X6