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    CCDC102B coiled-coil domain containing 102B [ Homo sapiens (human) ]

    Gene ID: 79839, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CCDC102Bprovided by HGNC
    Official Full Name
    coiled-coil domain containing 102Bprovided by HGNC
    Primary source
    HGNC:HGNC:26295
    See related
    Ensembl:ENSG00000150636 AllianceGenome:HGNC:26295
    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
    AN; ACY1L; HsT1731; C18orf14
    Expression
    Broad expression in placenta (RPKM 1.5), lung (RPKM 1.1) and 20 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    18q22.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (68715216..69058121)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (68931337..69431013)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (66382453..66722426)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:66231510-66232069 Neighboring gene metallothionein-like 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13474 Neighboring gene thioredoxin related transmembrane protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:66457198-66457835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:66457836-66458472 Neighboring gene RNA, U6 small nuclear 39, pseudogene Neighboring gene succinate dehydrogenase complex subunit C pseudogene 1 Neighboring gene aminoacylase 1 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49334 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49336 Neighboring gene uncharacterized LOC124904376 Neighboring gene uncharacterized LOC107985134

    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. CCDC102B confers risk of low vision and blindness in high myopia. Hosoda Y, et al. Nat Commun, 2018 May 3. PMID 29725004, Free PMC Article
    2. Human aminoacylase-1: cloning, regional assignment to distal chromosome 3p21.1, and identification of a cross-hybridizing sequence on chromosome 18. Miller YE, et al. Genomics, 1990 Sep. PMID 1707030
    3. CCDC102B functions in centrosome linker assembly and centrosome cohesion. Xia Y, et al. J Cell Sci, 2018 Dec 3. PMID 30404835
    4. Genome-wide association study of liver enzymes in korean children. Park TJ, et al. Genomics Inform, 2013 Sep. PMID 24124411, Free PMC Article
    5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC102B is phosphorylated by Nek2A (an isoform encoded by NEK2) and is disassociated from the centrosome at the onset of mitosis. Findings reveal a molecular role for CCDC102B in centrosome cohesion and centrosome linker assembly.
      Title: CCDC102B functions in centrosome linker assembly and centrosome cohesion.
    2. development of myopic maculopathy thus likely exhibits a unique background apart from the development of myopia itself; elucidation of the roles of CCDC102B in myopic maculopathy development may thus provide insights into preventive methods for blindness in patients with high myopia
      Title: CCDC102B confers risk of low vision and blindness in high myopia.
    3. 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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    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
    Genome-wide association study of liver enzymes in korean children.
    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)

    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

    • FLJ23594, MGC161726, MGC161728, DKFZp434K1426, DKFZp686I08254

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in centriole-centriole cohesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 102B

    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_001093729.2 → NP_001087198.2  coiled-coil domain-containing protein 102B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC011087, AC022035, AC040896, AC096708
      Consensus CDS
      CCDS11996.2
      UniProtKB/Swiss-Prot
      A1A4H1, Q68D86, Q7Z467, Q8NDK7, Q9H5C1
      Conserved Domains (1) summary
      COG1196
      Location:220 → 511
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    2. NM_024781.3 → NP_079057.3  coiled-coil domain-containing protein 102B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC011087, AC022035, AC096708
      Consensus CDS
      CCDS11996.2
      UniProtKB/Swiss-Prot
      A1A4H1, Q68D86, Q7Z467, Q8NDK7, Q9H5C1
      Related
      ENSP00000353377.5, ENST00000360242.9
      Conserved Domains (1) summary
      COG1196
      Location:220 → 511
      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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      68715216..69058121
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437804.1 → XP_047293760.1  coiled-coil domain-containing protein 102B isoform X1

    2. XM_017025973.2 → XP_016881462.1  coiled-coil domain-containing protein 102B isoform X1

      Conserved Domains (1) summary
      pfam14662
      Location:345 → 511
      KASH_CCD; Coiled-coil region of CCDC155 or KASH

    3. XM_047437806.1 → XP_047293762.1  coiled-coil domain-containing protein 102B isoform X2

    4. XM_047437805.1 → XP_047293761.1  coiled-coil domain-containing protein 102B isoform X1

    5. XM_017025974.2 → XP_016881463.1  coiled-coil domain-containing protein 102B isoform X1

      Conserved Domains (1) summary
      pfam14662
      Location:345 → 511
      KASH_CCD; Coiled-coil region of CCDC155 or KASH

    6. XM_047437807.1 → XP_047293763.1  coiled-coil domain-containing protein 102B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      68931337..69431013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319110.1 → XP_054175085.1  coiled-coil domain-containing protein 102B isoform X1

    2. XM_054319111.1 → XP_054175086.1  coiled-coil domain-containing protein 102B isoform X1

    3. XM_054319113.1 → XP_054175088.1  coiled-coil domain-containing protein 102B isoform X1

    4. XM_054319112.1 → XP_054175087.1  coiled-coil domain-containing protein 102B isoform X1

    5. XM_054319118.1 → XP_054175093.1  coiled-coil domain-containing protein 102B isoform X1

    6. XM_054319115.1 → XP_054175090.1  coiled-coil domain-containing protein 102B isoform X4

    7. XM_054319114.1 → XP_054175089.1  coiled-coil domain-containing protein 102B isoform X3

    8. XM_054319117.1 → XP_054175092.1  coiled-coil domain-containing protein 102B isoform X6

    9. XM_054319116.1 → XP_054175091.1  coiled-coil domain-containing protein 102B isoform X5

    10. XM_054319119.1 → XP_054175094.1  coiled-coil domain-containing protein 102B isoform X7

    RNA

    1. XR_008485022.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68D86.4 GenPept UniProtKB/Swiss-Prot:Q68D86

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