Aliases for CCDC102A Gene

Aliases for CCDC102A Gene

  • Coiled-Coil Domain Containing 102A 2 3 5
  • Coiled-Coil Domain-Containing Protein 102A 3 4
  • CCDC102A 5
  • MGC10992 2

External Ids for CCDC102A Gene

Previous GeneCards Identifiers for CCDC102A Gene

  • GC16M056104
  • GC16M057546
  • GC16M043413

Summaries for CCDC102A Gene

GeneCards Summary for CCDC102A Gene

CCDC102A (Coiled-Coil Domain Containing 102A) is a Protein Coding gene. Diseases associated with CCDC102A include Diabetic Cataract. An important paralog of this gene is MYH6.

Additional gene information for CCDC102A Gene

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 CCDC102A Gene

Genomics for CCDC102A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC102A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC102A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC102A

Top Transcription factor binding sites by QIAGEN in the CCDC102A gene promoter:
  • AP-1
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Fos
  • c-Jun
  • MIF-1
  • Pax-4a
  • SEF-1 (1)
  • Spz1

Genomic Locations for CCDC102A Gene

Genomic Locations for CCDC102A Gene
chr16:57,512,178-57,538,305
(GRCh38/hg38)
Size:
26,128 bases
Orientation:
Minus strand
chr16:57,546,090-57,570,511
(GRCh37/hg19)
Size:
24,422 bases
Orientation:
Minus strand

Genomic View for CCDC102A Gene

Genes around CCDC102A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC102A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC102A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC102A Gene

Proteins for CCDC102A Gene

  • Protein details for CCDC102A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A19-C102A_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 102A
    Protein Accession:
    Q96A19
    Secondary Accessions:
    • Q9BT74

    Protein attributes for CCDC102A Gene

    Size:
    550 amino acids
    Molecular mass:
    62596 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC102A Gene

Post-translational modifications for CCDC102A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC102A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC102A Gene

Domains & Families for CCDC102A Gene

Gene Families for CCDC102A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC102A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC102A Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 102A (C102A_HUMAN)
genes like me logo Genes that share domains with CCDC102A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC102A Gene

Function for CCDC102A Gene

Phenotypes From GWAS Catalog for CCDC102A Gene

Gene Ontology (GO) - Molecular Function for CCDC102A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
genes like me logo Genes that share ontologies with CCDC102A: view
genes like me logo Genes that share phenotypes with CCDC102A: view

Animal Model Products

CRISPR Products

miRNA for CCDC102A Gene

miRTarBase miRNAs that target CCDC102A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC102A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC102A Gene

Localization for CCDC102A Gene

Subcellular locations from

COMPARTMENTS
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 CCDC102A gene
Compartment Confidence
nucleus 3
cytoskeleton 2
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC102A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016459 myosin complex IEA --
genes like me logo Genes that share ontologies with CCDC102A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCDC102A Gene

Pathways & Interactions for CCDC102A Gene

PathCards logo

SuperPathways for CCDC102A Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC102A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC102A Gene

Drugs & Compounds for CCDC102A Gene

No Compound Related Data Available

Transcripts for CCDC102A Gene

mRNA/cDNA for CCDC102A Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC102A

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC102A Gene

No ASD Table

Relevant External Links for CCDC102A Gene

GeneLoc Exon Structure for
CCDC102A

Expression for CCDC102A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC102A Gene

Protein differential expression in normal tissues from HIPED for CCDC102A Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (32.0) and Heart (24.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC102A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC102A

SOURCE GeneReport for Unigene cluster for CCDC102A Gene:

Hs.644611

Evidence on tissue expression from TISSUES for CCDC102A Gene

  • Nervous system(4.3)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with CCDC102A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC102A Gene

Orthologs for CCDC102A Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC102A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC102A 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC102A 30 31
  • 91.14 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC102A 30 31
  • 88.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc102a 30
  • 86.58 (n)
Mouse
(Mus musculus)
Mammalia Ccdc102a 30 17 31
  • 86.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC102A 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC102A 30 31
  • 78.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC102A 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc102a 30
  • 64.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii ccdc102a 30 31
  • 68.7 (n)
OneToOne
wufc66e01 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007348 30
  • 56.09 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31638 30 31
  • 55.36 (n)
OneToOne
Species where no ortholog for CCDC102A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CCDC102A Gene

ENSEMBL:
Gene Tree for CCDC102A (if available)
TreeFam:
Gene Tree for CCDC102A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC102A: view image

Paralogs for CCDC102A Gene

(2) SIMAP similar genes for CCDC102A Gene using alignment to 2 proteins:

  • C102A_HUMAN
  • L0R6E4_HUMAN
genes like me logo Genes that share paralogs with CCDC102A: view

Variants for CCDC102A Gene

Additional dbSNP identifiers (rs#s) for CCDC102A Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC102A Gene

Variant ID Type Subtype PubMed ID
esv28778 CNV loss 19812545
nsv1055537 CNV loss 25217958
nsv572723 CNV loss 21841781
nsv833245 CNV loss 17160897
nsv952683 CNV deletion 24416366

Variation tolerance for CCDC102A Gene

Residual Variation Intolerance Score: 41.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC102A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC102A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC102A Gene

Disorders for CCDC102A Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC102A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
diabetic cataract
  • cataract - diabetic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC102A

genes like me logo Genes that share disorders with CCDC102A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC102A Gene

Publications for CCDC102A Gene

  1. 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
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  3. Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. (PMID: 29478914) Yamauchi T … Maeda T (Cancer cell 2018) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for CCDC102A Gene

  • Biorbyt antibodies for CCDC102A

Sources for CCDC102A Gene