Aliases for CCDC102B Gene

Aliases for CCDC102B Gene

  • Coiled-Coil Domain Containing 102B 2 3 5
  • Coiled-Coil Domain-Containing Protein 102B 3 4
  • C18orf14 3 4
  • HsT1731 2 3
  • AN 2 3
  • Chromosome 18 Open Reading Frame 14 2
  • Aminoacylase 1-Like 2
  • CCDC102B 5
  • FLJ23594 2
  • ACY1L 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. Diseases associated with CCDC102B include Myopia and Diaphragmatic Hernia, Congenital. An important paralog of this gene is CCDC102A.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC102B Gene

Genomics for CCDC102B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC102B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J068713 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.4 -408 3.2 TBP MXD4 MNT IKZF1 SMAD5 ETS1 POLR2A BHLHE40 ELF1 HOMEZ CCDC102B TMX3 lnc-CCDC102B-1 lnc-CD226-6 lnc-CD226-7
GH18J068796 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 250.2 +83.7 83738 4.1 JUND EP300 CCDC102B lnc-TMX3-3 piR-45012-258 DOK6
GH18J068771 Promoter 0.3 EPDnew 250.2 +56.1 56126 0.1 CCDC102B ENSG00000263637 HSALNG0122215 ENSG00000276092 DOK6
GH18J068839 Enhancer 0.8 FANTOM5 ENCODE 5.6 +126.1 126137 3.4 CEBPA CEBPB EP300 STAT3 JUND NFE2L2 CEBPG BHLHE40 JUN ZNF384 CCDC102B RF00026-495 RNU6-39P lnc-TMX3-3 DOK6
GH18J068864 Enhancer 0.5 Ensembl 6.6 +150.1 150091 1 CEBPA RXRA ZBTB33 SPI1 HNF4A MAX NR2F2 SP1 YY1 lnc-DOK6-5 SDHCP1 CCDC102B RF00026-495 RNU6-39P DOK6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC102B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC102B

Top Transcription factor binding sites by QIAGEN in the CCDC102B gene promoter:
  • FOXF2
  • FOXL1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • GCNF-1
  • GCNF-2
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2

Genomic Locations for CCDC102B Gene

Latest Assembly
499,142 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
339,974 bases
Plus strand

(GRCh37/hg19 by Ensembl)
339,981 bases
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:
    Recommended name:
    Coiled-coil domain-containing protein 102B
    Protein Accession:
    Secondary Accessions:
    • A1A4H1
    • Q7Z467
    • Q8NDK7
    • Q9H5C1

    Protein attributes for CCDC102B Gene

    513 amino acids
    Molecular mass:
    60448 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH56269.1; Type=Miscellaneous discrepancy; Note=wrong intron-exon boundaries.; Evidence={ECO:0000305}; Sequence=AAI26449.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI26451.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15706.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD38721.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD38721.2; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC102B Gene


neXtProt entry for CCDC102B Gene

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

Gene Families for CCDC102B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC102B Gene


Suggested Antigen Peptide Sequences for CCDC102B Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain containing 102B (A1A4H1_HUMAN)
  • Coiled-coil domain-containing protein 102B (C102B_HUMAN)
genes like me logo Genes that share domains with CCDC102B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC102B Gene

Function for CCDC102B Gene

Phenotypes From GWAS Catalog for CCDC102B Gene

Gene Ontology (GO) - Molecular Function for CCDC102B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC102B: view
genes like me logo Genes that share phenotypes with CCDC102B: view

miRNA for CCDC102B Gene

miRTarBase miRNAs that target CCDC102B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC102B

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

Localization for CCDC102B Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC102B gene
Compartment Confidence
cytosol 3
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

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

Pathways & Interactions for CCDC102B Gene

PathCards logo

SuperPathways for CCDC102B Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC102B Gene


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

mRNA/cDNA for CCDC102B Gene

16 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC102B

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

No ASD Table

Relevant External Links for CCDC102B Gene

GeneLoc Exon Structure for

Expression for CCDC102B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for CCDC102B Gene

Protein tissue co-expression partners for CCDC102B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC102B

SOURCE GeneReport for Unigene cluster for CCDC102B Gene:

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

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia CCDC102B 30 31
  • 98.77 (n)
(Canis familiaris)
Mammalia CCDC102B 30 31
  • 83.3 (n)
(Bos Taurus)
Mammalia CCDC102B 30 31
  • 81.33 (n)
(Monodelphis domestica)
Mammalia CCDC102B 31
  • 61 (a)
(Gallus gallus)
Aves CCDC102B 31
  • 43 (a)
(Anolis carolinensis)
Reptilia CCDC102B 31
  • 42 (a)
(Caenorhabditis elegans)
Secernentea F53F10.1 31
  • 32 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
-- 31
  • 29 (a)
Species where no ortholog for CCDC102B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

Gene Tree for CCDC102B (if available)
Gene Tree for CCDC102B (if available)
Evolutionary constrained regions (ECRs) for CCDC102B: view image

Paralogs for CCDC102B Gene

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

  • C102B_HUMAN
  • A1A4H1_HUMAN
  • C9JV39_HUMAN
  • J3QL62_HUMAN
genes like me logo Genes that share paralogs with CCDC102B: view

Variants for CCDC102B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC102B Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs146661486 Benign: not provided 68,897,237(+) G/A
NM_024781.3(CCDC102B):c.1072G>A (p.Glu358Lys)
rs17080065 Benign: not provided. - 69,010,945(+) C/Ap.Asn425Lys
NM_024781.3(CCDC102B):c.1275C>A (p.Asn425Lys)
rs34102373 Benign: not provided. - 68,897,274(+) A/Gp.Glu370Gly
NM_024781.3(CCDC102B):c.1109A>G (p.Glu370Gly)
rs61998185 Benign: not provided 68,836,841(+) C/T
NM_024781.3(CCDC102B):c.78C>T (p.Arg26=)
rs75713049 Benign: not provided 68,838,809(+) C/G
NM_024781.3(CCDC102B):c.710C>G (p.Thr237Arg)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC102B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv3390n100 CNV gain 25217958
dgv6022n54 CNV loss 21841781
dgv6023n54 CNV loss 21841781
dgv6024n54 CNV loss 21841781
dgv6025n54 CNV loss 21841781
dgv6026n54 CNV gain 21841781
esv1283313 CNV insertion 17803354
esv1339608 CNV insertion 17803354
esv1721304 CNV insertion 17803354
esv2094660 CNV deletion 18987734
esv2597360 CNV insertion 19546169
esv2653298 CNV deletion 19546169
esv2717282 CNV deletion 23290073
esv2717283 CNV deletion 23290073
esv2758736 CNV gain+loss 17122850
esv3400309 CNV insertion 20981092
esv3404232 CNV insertion 20981092
esv3404524 CNV insertion 20981092
esv3424253 CNV insertion 20981092
esv3574164 CNV gain 25503493
esv3583130 CNV loss 25503493
esv3642948 CNV loss 21293372
esv3642952 CNV loss 21293372
esv3642954 CNV loss 21293372
esv3642955 CNV loss 21293372
esv3642957 CNV loss 21293372
esv3893127 CNV gain 25118596
esv3893130 CNV loss 25118596
esv9513 CNV gain 19470904
nsv1058755 CNV gain 25217958
nsv1065082 CNV loss 25217958
nsv1123189 CNV deletion 24896259
nsv1133064 OTHER inversion 24896259
nsv1138639 CNV deletion 24896259
nsv1139686 CNV duplication 24896259
nsv131067 CNV insertion 16902084
nsv458117 CNV gain 19166990
nsv458144 CNV gain 19166990
nsv458147 CNV loss 19166990
nsv458168 CNV loss 19166990
nsv458171 CNV gain 19166990
nsv470431 CNV gain 18288195
nsv470432 CNV loss 18288195
nsv507880 OTHER sequence alteration 20534489
nsv510463 OTHER sequence alteration 20534489
nsv520275 CNV loss 19592680
nsv524761 CNV loss 19592680
nsv526548 CNV loss 19592680
nsv527349 CNV loss 19592680
nsv528146 CNV loss 19592680
nsv577329 CNV gain 21841781
nsv577369 CNV gain 21841781
nsv577370 CNV gain 21841781
nsv577371 CNV loss 21841781
nsv577372 CNV loss 21841781
nsv577373 CNV loss 21841781
nsv577374 CNV loss 21841781
nsv577375 CNV loss 21841781
nsv577376 CNV loss 21841781
nsv577378 CNV loss 21841781
nsv577382 CNV loss 21841781
nsv577388 CNV loss 21841781
nsv577390 CNV loss 21841781
nsv577394 CNV loss 21841781
nsv577395 CNV gain 21841781
nsv833684 CNV loss 17160897

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)

Additional Variant Information for CCDC102B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC102B Gene

Disorders for CCDC102B Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC102B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
  • near vision
diaphragmatic hernia, congenital
  • dih
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC102B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CCDC102B: view

No data available for 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 (Nature genetics 2004) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3

Products for CCDC102B Gene

Sources for CCDC102B Gene