Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CCDC102B Gene

Aliases for CCDC102B Gene

  • Coiled-Coil Domain Containing 102B 2 3 5
  • C18orf14 3 4
  • Chromosome 18 Open Reading Frame 14 2
  • Aminoacylase 1-Like 2
  • HsT1731 3
  • ACY1L 3
  • AN 3

External Ids for CCDC102B Gene

Previous HGNC Symbols for CCDC102B Gene

  • C18orf14
  • ACY1L

Previous GeneCards Identifiers for CCDC102B Gene

  • GC18P064616
  • GC18P064533
  • GC18P066382
  • GC18P063100

Summaries for CCDC102B Gene

GeneCards Summary for CCDC102B Gene

CCDC102B (Coiled-Coil Domain Containing 102B) is a Protein Coding gene. An important paralog of this gene is CCDC102A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC102B Gene

Genomics for CCDC102B Gene

Regulatory Elements for CCDC102B Gene

Enhancers for CCDC102B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CCDC102B on UCSC Golden Path with GeneCards custom track

Promoters for CCDC102B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CCDC102B on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC102B Gene

Chromosome:
18
Start:
68,715,209 bp from pter
End:
69,171,081 bp from pter
Size:
455,873 bases
Orientation:
Plus strand

Genomic View for CCDC102B Gene

Genes around CCDC102B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC102B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC102B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC102B Gene

Proteins for CCDC102B Gene

  • Protein details for CCDC102B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68D86-C102B_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 102B
    Protein Accession:
    Q68D86
    Secondary Accessions:
    • Q7Z467
    • Q8NDK7
    • Q9H5C1

    Protein attributes for CCDC102B Gene

    Size:
    513 amino acids
    Molecular mass:
    60448 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH56269.1; Type=Miscellaneous discrepancy; Note=wrong intron-exon boundaries.; Evidence={ECO:0000305}; Sequence=BAB15706.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD38721.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD38721.2; Type=Frameshift; Positions=200; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC102B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC102B Gene

Proteomics data for CCDC102B Gene at MOPED

Post-translational modifications for CCDC102B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC102B Gene

Domains & Families for CCDC102B Gene

Protein Domains for CCDC102B Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC102B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC102B: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC102B Gene

Function for CCDC102B Gene

Phenotypes for CCDC102B Gene

genes like me logo Genes that share phenotypes with CCDC102B: view

Animal Model Products

CRISPR Products

miRNA for CCDC102B Gene

miRTarBase miRNAs that target CCDC102B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC102B Gene

Localization for CCDC102B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC102B Gene COMPARTMENTS Subcellular localization image for CCDC102B gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC102B Gene

Pathways & Interactions for CCDC102B Gene

SuperPathways for CCDC102B Gene

No Data Available

Interacting Proteins for CCDC102B Gene

Gene Ontology (GO) - Biological Process for CCDC102B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC102B Gene

Drugs & Compounds for CCDC102B Gene

No Compound Related Data Available

Transcripts for CCDC102B Gene

Unigene Clusters for CCDC102B Gene

Coiled-coil domain containing 102B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC102B Gene

No ASD Table

Relevant External Links for CCDC102B Gene

GeneLoc Exon Structure for
CCDC102B
ECgene alternative splicing isoforms for
CCDC102B

Expression for CCDC102B Gene

mRNA expression in normal human tissues for CCDC102B Gene

mRNA differential expression in normal tissues according to GTEx for CCDC102B Gene

This gene is overexpressed in Lung (x6.9).

Protein differential expression in normal tissues from HIPED for CCDC102B Gene

This gene is overexpressed in Esophagus (63.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CCDC102B Gene



SOURCE GeneReport for Unigene cluster for CCDC102B Gene Hs.280781

genes like me logo Genes that share expression patterns with CCDC102B: view

Protein tissue co-expression partners for CCDC102B Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CCDC102B Gene

Orthologs for CCDC102B Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC102B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CCDC102B 35
  • 81.33 (n)
  • 73.57 (a)
CCDC102B 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC102B 35
  • 83.3 (n)
  • 77.22 (a)
CCDC102B 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC102B 35
  • 98.77 (n)
  • 97.66 (a)
CCDC102B 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC102B 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC102B 36
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC102B 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F53F10.1 36
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
-- 36
  • 30 (a)
OneToMany
Species with no ortholog for CCDC102B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for CCDC102B Gene

ENSEMBL:
Gene Tree for CCDC102B (if available)
TreeFam:
Gene Tree for CCDC102B (if available)

Paralogs for CCDC102B Gene

Paralogs for CCDC102B Gene

(1) SIMAP similar genes for CCDC102B Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CCDC102B: view

Variants for CCDC102B Gene

Sequence variations from dbSNP and Humsavar for CCDC102B Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs745894 - 68,874,769(-) ACTCA(A/C)AAATC nc-transcript-variant, reference, missense
rs9963788 - 69,010,955(+) AACAT(C/G)CCTAC nc-transcript-variant, reference, missense
rs572020 - 68,837,222(-) GTAAC(A/T)TTAGC nc-transcript-variant, reference, missense
rs2187094 - 68,846,378(-) CATAC(C/T)TCCAC nc-transcript-variant, reference, missense
rs34102373 - 68,897,274(+) ACTTG(A/G)AAGAG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CCDC102B Gene

Variant ID Type Subtype PubMed ID
nsv458117 CNV Gain 19166990
esv847 CNV CNV 17122850
dgv1044e1 CNV Complex 17122850
dgv3446n71 CNV Gain 21882294
esv268163 CNV Insertion 20981092
esv274202 CNV Insertion 20981092
esv1283313 CNV Insertion 17803354
esv2094660 CNV Deletion 18987734
esv2717282 CNV Deletion 23290073
nsv909809 CNV Gain 21882294
nsv833684 CNV Loss 17160897
nsv507880 CNV Insertion 20534489
nsv458144 CNV Gain 19166990
esv1339608 CNV Insertion 17803354
nsv520275 CNV Loss 19592680
esv9513 CNV Gain 19470904
esv2597360 CNV Insertion 19546169
esv273600 CNV Insertion 20981092
esv271308 CNV Insertion 20981092
nsv131067 CNV Insertion 16902084
esv1721304 CNV Insertion 17803354
nsv528146 CNV Loss 19592680
nsv510463 CNV Loss 20534489
esv2717283 CNV Deletion 23290073
nsv909810 CNV Loss 21882294
nsv909811 CNV Loss 21882294
nsv909812 CNV Loss 21882294
dgv3447n71 CNV Loss 21882294
nsv524761 CNV Loss 19592680
nsv470431 CNV Gain 18288195
nsv909817 CNV Loss 21882294
nsv458147 CNV Loss 19166990
dgv3448n71 CNV Loss 21882294
nsv470432 CNV Loss 18288195
nsv526548 CNV Loss 19592680
nsv527349 CNV Loss 19592680
nsv458168 CNV Loss 19166990
esv2653298 CNV Deletion 19546169
nsv458171 CNV Gain 19166990

Variation tolerance for CCDC102B Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.25; 94.05% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CCDC102B Gene

Disorders for CCDC102B Gene

Relevant External Links for CCDC102B

Genetic Association Database (GAD)
CCDC102B
Human Genome Epidemiology (HuGE) Navigator
CCDC102B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC102B

No disorders were found for CCDC102B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC102B Gene

Publications for CCDC102B Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for CCDC102B Gene

Sources for CCDC102B Gene

Content