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

Gene ID: 57639, updated on 2-Nov-2024

Summary

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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; SPGF94
Summary
Involved in spermatid development. Located in several cellular components, including microtubule organizing center; midbody; and sperm flagellum. Implicated in spermatogenic failure 94. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 14.9), skin (RPKM 7.4) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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See CCDC146 in Genome Data Viewer
Location:
7q11.23
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (77122615..77295204)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (78373727..78546266)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76751932..76924521)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SNF2 related chromatin remodeling ATPase 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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. Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse. Muroňová J, et al. Elife, 2024 Mar 5. PMID 38441556, Free PMC Article
  2. Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice. Ye JW, et al. Zool Res, 2024 Sep 18. PMID 39245651, Free PMC Article
  3. The Human Centrosomal Protein CCDC146 Binds Chlamydia trachomatis Inclusion Membrane Protein CT288 and Is Recruited to the Periphery of the Chlamydia-Containing Vacuole. Almeida F, et al. Front Cell Infect Microbiol, 2018. PMID 30094225, Free PMC Article
  4. Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis by sensing nutrients. Zhang YK, et al. Nat Commun, 2017 Sep 6. PMID 28878358, Free PMC Article
  5. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. Firat-Karalar EN, et al. J Cell Sci, 2014 Oct 1. PMID 25074808, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.
    Title: Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.
  2. Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
    Title: Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
  3. The results suggest a model in which chlamydial proteins other than CT288 recruit CCDC146 to the periphery of the inclusion, where the CT288-CCDC146 interaction might contribute to modulate the function of this host protein.
    Title: The Human Centrosomal Protein CCDC146 Binds Chlamydia trachomatis Inclusion Membrane Protein CT288 and Is Recruited to the Periphery of the Chlamydia-Containing Vacuole.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1505

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in manchette assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in nucleus organization IEA
Inferred from Electronic Annotation
more info
  
involved_in single fertilization IEA
Inferred from Electronic Annotation
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatid development ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in midbody IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm head-tail coupling apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
coiled-coil domain-containing protein 146

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_020879.3 → NP_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:68 → 859
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

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_000007.14 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    A8K8X6, Q8IYE0, Q9P223

  2. XM_047420664.1 → XP_047276620.1  coiled-coil domain-containing protein 146 isoform X3

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

    Related
    ENST00000415740.6

  4. XM_047420665.1 → XP_047276621.1  coiled-coil domain-containing protein 146 isoform X4

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

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

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

  8. XM_047420667.1 → XP_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_054358720.1 → XP_054214695.1  coiled-coil domain-containing protein 146 isoform X1

    UniProtKB/Swiss-Prot
    A8K8X6, Q8IYE0, Q9P223

  2. XM_054358722.1 → XP_054214697.1  coiled-coil domain-containing protein 146 isoform X3

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

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

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

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

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYE0.2 GenPept UniProtKB/Swiss-Prot:Q8IYE0

Gene LinkOut

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