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

Gene ID: 79839, updated on 27-Nov-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
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
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Genomic context

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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

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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 (22) 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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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)

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_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

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