U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 79839, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    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
    Summary
    Enables protein serine/threonine kinase binding activity. Involved in centriole-centriole cohesion. Located in centriole. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in placenta (RPKM 1.5), lung (RPKM 1.1) and 20 other tissues See more
    Orthologs
    all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See CCDC102B in Genome Data Viewer
    Location:
    18q22.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (68715216..69058121)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (68931337..69431013)
    RS_2024_09 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 SDHC 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

    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

    Go to the top of the page Help

    See Variation Viewer (GRCh37.p13)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    Preferred Names
    coiled-coil domain-containing protein 102B

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools